#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PSG7	5676	broad.mit.edu	37	19	43433784	43433784	+	RNA	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:43433784A>G	ENST00000406070.2	-	0	615				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)				TTGCATCTGGAGTCTCAGGAT	0.527																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							252.0	246.0	248.0					19																	43433784		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433784A>G			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.43433784A>G						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	615	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.527	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		98	230	0	0	0	1	0	98	230				
PRSS55	203074	broad.mit.edu	37	8	10388838	10388838	+	Silent	SNP	C	C	T	rs35035741		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr8:10388838C>T	ENST00000328655.3	+	3	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.N127N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.N127N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGGGACCAACGACTTAACTA	0.507																																						ENST00000328655.3																			1	Substitution - coding silent(1)	p.N127N(1)	endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(379-381)aaC>aaT		protease, serine, 55							134.0	127.0	129.0					8																	10388838		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10388838C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.381C>T	8.37:g.10388838C>T						PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.N127N	p.N127N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			3	421	+			127			Peptidase S1.		E5RJX5	Silent	SNP	ENST00000328655.3	37	c.381C>T	CCDS5976.1																																																																																				0.507	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		31	104	0	0	0	1	0	31	104				
FAM214B	80256	broad.mit.edu	37	9	35107992	35107992	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35107992C>T	ENST00000378561.1	-	2	3335	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	FAM214B_ENST00000378557.1_Missense_Mutation_p.E94K|FAM214B_ENST00000322813.5_Missense_Mutation_p.E94K|FAM214B_ENST00000378554.2_Missense_Mutation_p.E94K|FAM214B_ENST00000488109.2_Missense_Mutation_p.E94K|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000603301.1_Missense_Mutation_p.E94K|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000605244.1_Missense_Mutation_p.E94K			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	94						nucleus (GO:0005634)											GATGGTTCTTCAGGGGGTAGT	0.637																																						ENST00000378561.1																			0											c.(280-282)Gaa>Aaa		family with sequence similarity 214, member B							44.0	48.0	47.0					9																	35107992		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35107992C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.280G>A	9.37:g.35107992C>T	ENSP00000367823:p.Glu94Lys					FAM214B_ENST00000605244.1_Missense_Mutation_p.E94K|FAM214B_ENST00000378554.2_Missense_Mutation_p.E94K|FAM214B_ENST00000488109.2_Missense_Mutation_p.E94K|FAM214B_ENST00000378557.1_Missense_Mutation_p.E94K|FAM214B_ENST00000603301.1_Missense_Mutation_p.E94K|FAM214B_ENST00000322813.5_Missense_Mutation_p.E94K|FAM214B_ENST00000378566.1_Intron	p.E94K			Q7L5A3	K1539_HUMAN			2	3335	-			94					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.280G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640610	0.67244	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.71	4.71	0.59529	.	0.081322	0.51477	D	0.000088	T	0.59280	0.2182	L	0.55481	1.735	0.30661	N	0.754412	D	0.69078	0.997	D	0.73380	0.98	T	0.59193	-0.7500	9	0.38643	T	0.18	-0.6901	9.9909	0.41870	0.1613:0.7007:0.138:0.0	.	94	Q7L5A3	K1539_HUMAN	K	94	.	ENSP00000319897:E94K	E	-	1	0	KIAA1539	35097992	0.997000	0.39634	0.999000	0.59377	0.948000	0.59901	1.868000	0.39509	2.455000	0.83008	0.555000	0.69702	GAA		0.637	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		21	40	0	0	0	1	0	21	40				
USP29	57663	broad.mit.edu	37	19	57642572	57642572	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:57642572C>T	ENST00000254181.4	+	4	2983	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	USP29_ENST00000598197.1_Silent_p.S843S|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	843	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTACATCAGCGATGTGTATG	0.483																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2527-2529)agC>agT		ubiquitin specific peptidase 29							84.0	75.0	78.0					19																	57642572		2203	4300	6503	SO:0001819	synonymous_variant	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642572C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2529C>T	19.37:g.57642572C>T						USP29_ENST00000598197.1_Silent_p.S843S	p.S843S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2983	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	843						Silent	SNP	ENST00000254181.4	37	c.2529C>T	CCDS33124.1																																																																																				0.483	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			26	35	0	0	0	1	0	26	35				
JTB	10899	broad.mit.edu	37	1	153947216	153947216	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:153947216C>T	ENST00000271843.4	-	5	815	c.380G>A	c.(379-381)cGt>cAt	p.R127H	JTB_ENST00000368589.1_Missense_Mutation_p.R98H|JTB_ENST00000356648.1_Missense_Mutation_p.R98H|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	127					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGTCGCTGACGAATGATGAC	0.498																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(379-381)cGt>cAt		jumping translocation breakpoint							144.0	130.0	135.0					1																	153947216		2203	4300	6503	SO:0001583	missense	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153947216C>T	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.380G>A	1.37:g.153947216C>T	ENSP00000271843:p.Arg127His					JTB_ENST00000368589.1_Missense_Mutation_p.R98H|JTB_ENST00000356648.1_Missense_Mutation_p.R98H	p.R127H	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	815	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		127					O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	c.380G>A	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453364	0.84209	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.67523	-0.27	5.53	4.62	0.57501	.	0.059857	0.64402	D	0.000002	T	0.75110	0.3805	M	0.75615	2.305	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	T	0.79610	-0.1732	10	0.87932	D	0	-11.8565	12.0934	0.53739	0.0:0.9177:0.0:0.0823	.	127	O76095	JTB_HUMAN	H	127;98;98;98	ENSP00000271843:R127H	ENSP00000271843:R127H	R	-	2	0	JTB	152213840	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.634000	0.67833	1.560000	0.49568	0.655000	0.94253	CGT		0.498	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		26	43	0	0	0	1	0	26	43				
SETD3	84193	broad.mit.edu	37	14	99871554	99871554	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:99871554G>A	ENST00000331768.5	-	10	1238	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	360					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGGGATGCCGGCACGAGCCAA	0.428																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1078-1080)gCc>gTc		SET domain containing 3							164.0	155.0	158.0					14																	99871554		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99871554G>A	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1079C>T	14.37:g.99871554G>A	ENSP00000327436:p.Ala360Val						p.A360V	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			10	1238	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	360					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1079C>T	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737862	0.30774	.	.	ENSG00000183576	ENST00000331768	T	0.17854	2.25	5.54	4.64	0.57946	Rubisco LS methyltransferase, substrate-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.53249	1.67	0.80722	D	1	P	0.45348	0.856	B	0.39094	0.29	T	0.05131	-1.0904	10	0.02654	T	1	-39.7125	14.5575	0.68113	0.0705:0.0:0.9295:0.0	.	360	Q86TU7	SETD3_HUMAN	V	360	ENSP00000327436:A360V	ENSP00000327436:A360V	A	-	2	0	SETD3	98941307	1.000000	0.71417	0.885000	0.34714	0.844000	0.47949	7.527000	0.81931	1.477000	0.48234	0.655000	0.94253	GCC		0.428	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		4	174	0	0	0	1	0	4	174				
TLN1	7094	broad.mit.edu	37	9	35724224	35724224	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35724224G>A	ENST00000314888.9	-	6	972	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	TLN1_ENST00000540444.1_Missense_Mutation_p.R207W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	207	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGGGTCCCGGGAATCCACA	0.587																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(619-621)Cgg>Tgg		talin 1							85.0	73.0	77.0					9																	35724224		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35724224G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.619C>T	9.37:g.35724224G>A	ENSP00000316029:p.Arg207Trp					TLN1_ENST00000540444.1_Missense_Mutation_p.R207W	p.R207W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	972	-	all_epithelial(49;0.167)		207			FERM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.619C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759211	0.69763	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.78924	-1.22;-1.22	5.39	5.39	0.77823	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88793	0.6533	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	D	0.90345	0.4362	10	0.87932	D	0	-18.0375	13.3561	0.60629	0.0:0.0:0.7224:0.2776	.	207;207	Q5TCU5;Q9Y490	.;TLN1_HUMAN	W	207	ENSP00000316029:R207W;ENSP00000442981:R207W	ENSP00000316029:R207W	R	-	1	2	TLN1	35714224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.211000	0.42825	2.525000	0.85131	0.655000	0.94253	CGG		0.587	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		3	46	0	0	0	1	0	3	46				
GLS2	27165	broad.mit.edu	37	12	56873645	56873645	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:56873645A>C	ENST00000311966.4	-	3	601	c.323T>G	c.(322-324)cTc>cGc	p.L108R	GLS2_ENST00000539272.1_Missense_Mutation_p.L108R|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	108					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	GCAGTCTCGGAGCCGAGGATC	0.537																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(322-324)cTc>cGc		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						81.0	70.0	74.0					12																	56873645		2203	4300	6503	SO:0001583	missense	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56873645A>C		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.323T>G	12.37:g.56873645A>C	ENSP00000310447:p.Leu108Arg					GLS2_ENST00000539272.1_Missense_Mutation_p.L108R	p.L108R	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			3	601	-			108					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.323T>G	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608736	0.87258	.	.	ENSG00000135423	ENST00000311966;ENST00000461077;ENST00000539272	T	0.52526	0.66	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	M	0.67397	2.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.69639	-0.5091	10	0.87932	D	0	-11.281	14.0828	0.64937	1.0:0.0:0.0:0.0	.	108	Q9UI32	GLSL_HUMAN	R	108	ENSP00000310447:L108R	ENSP00000310447:L108R	L	-	2	0	GLS2	55159912	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.566000	0.90734	2.226000	0.72624	0.533000	0.62120	CTC		0.537	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		9	30	0	0	0	1	0	9	30				
SPNS3	201305	broad.mit.edu	37	17	4352564	4352564	+	Missense_Mutation	SNP	G	G	A	rs147966930	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:4352564G>A	ENST00000355530.2	+	7	1085	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPNS3_ENST00000333476.2_Missense_Mutation_p.A142T|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	269					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGGAGTGACCGCCATGGCCTT	0.657													g|||	4	0.000798722	0.0008	0.0	5008	,	,		15626	0.0		0.003	False		,,,				2504	0.0					ENST00000355530.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(805-807)Gcc>Acc		spinster homolog 3 (Drosophila)			THR/ALA	1,4405	2.1+/-5.4	0,1,2202	98.0	88.0	92.0		805	3.1	1.0	17	dbSNP_134	92	9,8591	7.1+/-27.0	0,9,4291	yes	missense	SPNS3	NM_182538.4	58	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	benign	269/513	4352564	10,12996	2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4352564G>A		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.805G>A	17.37:g.4352564G>A	ENSP00000347721:p.Ala269Thr					SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.A142T	p.A269T	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			7	1085	+			269					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.805G>A	CCDS11045.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	21.4	4.137991	0.77775	2.27E-4	0.001047	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59224	0.28;0.28	5.15	3.06	0.35304	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.112777	0.64402	D	0.000012	T	0.66376	0.2783	M	0.71920	2.185	0.42985	D	0.994474	D;D	0.69078	0.997;0.987	P;P	0.60473	0.875;0.846	T	0.65067	-0.6258	10	0.52906	T	0.07	-14.8186	6.1412	0.20261	0.0867:0.0:0.5745:0.3388	.	142;269	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	T	269;142	ENSP00000347721:A269T;ENSP00000333207:A142T	ENSP00000333207:A142T	A	+	1	0	SPNS3	4299313	0.984000	0.35163	0.997000	0.53966	0.801000	0.45260	1.882000	0.39648	0.608000	0.30000	0.651000	0.88453	GCC		0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		19	90	0	0	0	1	0	19	90				
EQTN	54586	broad.mit.edu	37	9	27284733	27284733	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:27284733C>T	ENST00000380032.3	-	8	956	c.873G>A	c.(871-873)tcG>tcA	p.S291S	LINC00032_ENST00000425633.1_lincRNA|EQTN_ENST00000537675.1_Silent_p.S262S	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	291					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.S291S(1)									ACCGGGTAACCGACTCATCGT	0.353																																						ENST00000380032.3																			1	Substitution - coding silent(1)	p.S291S(1)	central_nervous_system(1)								c.(871-873)tcG>tcA		equatorin, sperm acrosome associated							111.0	102.0	105.0					9																	27284733		2203	4300	6503	SO:0001819	synonymous_variant	54586							g.chr9:27284733C>T	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.873G>A	9.37:g.27284733C>T						EQTN_ENST00000537675.1_Silent_p.S262S	p.S291S	NM_020641.2	NP_065692.2					8	956	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP	ENST00000380032.3	37	c.873G>A	CCDS35001.1																																																																																				0.353	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		31	19	0	0	0	1	0	31	19				
TIE1	7075	broad.mit.edu	37	1	43772556	43772556	+	Missense_Mutation	SNP	G	G	A	rs150406982		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:43772556G>A	ENST00000372476.3	+	4	609	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	TIE1_ENST00000538015.1_Missense_Mutation_p.R177Q|TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000441333.2_Missense_Mutation_p.R177Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	177					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGGATGGGCGGTTCCTGCTG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17876	0.0		0.0	False		,,,				2504	0.0					ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(529-531)cGg>cAg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		530	-0.8	1.0	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	TIE1	NM_005424.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	177/1139	43772556	1,13005	2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772556G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.530G>A	1.37:g.43772556G>A	ENSP00000361554:p.Arg177Gln					TIE1_ENST00000538015.1_Missense_Mutation_p.R177Q|TIE1_ENST00000441333.2_Missense_Mutation_p.R177Q	p.R177Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			4	609	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	177					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.530G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	6.254	0.415067	0.11870	2.27E-4	0.0	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.41758	0.99;0.99;0.99	5.13	-0.749	0.11084	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.353740	0.05537	N	0.564949	T	0.25754	0.0627	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.20261	0.0;0.002;0.007;0.043;0.001	B;B;B;B;B	0.14578	0.0;0.001;0.001;0.011;0.001	T	0.19257	-1.0311	10	0.12766	T	0.61	.	7.1433	0.25568	0.4791:0.0:0.4099:0.111	.	132;177;177;177;177	B4DTW8;B5A952;B5A950;B5A948;P35590	.;.;.;.;TIE1_HUMAN	Q	177	ENSP00000361554:R177Q;ENSP00000401903:R177Q;ENSP00000440063:R177Q	ENSP00000361554:R177Q	R	+	2	0	TIE1	43545143	0.000000	0.05858	0.956000	0.39512	0.331000	0.28603	-0.790000	0.04604	-0.033000	0.13736	-0.362000	0.07510	CGG		0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		28	49	0	0	0	1	0	28	49				
AKAP9	10142	broad.mit.edu	37	7	91727520	91727520	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:91727520G>T	ENST00000359028.2	+	43	10942	c.10717G>T	c.(10717-10719)Ggt>Tgt	p.G3573C	AKAP9_ENST00000358100.2_Missense_Mutation_p.G3519C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3569C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3573					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGCCAGCAAGGTGAAGAGGT	0.303			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(10717-10719)Ggt>Tgt		A kinase (PRKA) anchor protein 9							36.0	36.0	36.0					7																	91727520		2203	4297	6500	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91727520G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10717G>T	7.37:g.91727520G>T	ENSP00000351922:p.Gly3573Cys					AKAP9_ENST00000358100.2_Missense_Mutation_p.G3519C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3569C	p.G3573C			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		43	10942	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3573					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.10717G>T		.	.	.	.	.	.	.	.	.	.	G	4.488	0.090575	0.08632	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03468	4.01;4.01;4.01;3.92	4.74	1.87	0.25490	.	0.377447	0.19514	N	0.112447	T	0.03011	0.0089	L	0.41027	1.25	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.003;0.002;0.003;0.003	B;B;B;B;B	0.14578	0.001;0.011;0.005;0.011;0.011	T	0.42515	-0.9447	10	0.40728	T	0.16	.	1.7324	0.02934	0.281:0.1364:0.4427:0.1398	.	844;3573;3573;3569;3561	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	C	3569;3573;3519;3573;1415	ENSP00000348573:G3569C;ENSP00000351922:G3573C;ENSP00000350813:G3519C;ENSP00000378042:G1415C	ENSP00000348573:G3569C	G	+	1	0	AKAP9	91565456	0.000000	0.05858	0.030000	0.17652	0.280000	0.26924	0.056000	0.14256	0.294000	0.22547	0.591000	0.81541	GGT		0.303	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	49	1	0	0.000978159	1	0.00099298	11	49				
TRPM6	140803	broad.mit.edu	37	9	77415326	77415326	+	Silent	SNP	C	C	T	rs570964806		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:77415326C>T	ENST00000360774.1	-	17	2319	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	TRPM6_ENST00000451710.3_Silent_p.L694L|TRPM6_ENST00000376871.3_Intron|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376864.4_Silent_p.L694L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.L689L|TRPM6_ENST00000449912.2_Silent_p.L689L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	694					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATACGTCAACAGCGTCATGG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		17506	0.001		0.0	False		,,,				2504	0.0					ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2080-2082)ctG>ctA		transient receptor potential cation channel, subfamily M, member 6							130.0	106.0	114.0					9																	77415326		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415326C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2082G>A	9.37:g.77415326C>T						TRPM6_ENST00000449912.2_Silent_p.L689L|TRPM6_ENST00000376864.4_Silent_p.L694L|TRPM6_ENST00000361255.3_Silent_p.L689L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.L694L|TRPM6_ENST00000376871.3_Intron	p.L694L			Q9BX84	TRPM6_HUMAN			17	2319	-			694					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.2082G>A	CCDS6647.1																																																																																				0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		16	37	0	0	0	1	0	16	37				
MEI1	150365	broad.mit.edu	37	22	42166858	42166858	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:42166858G>A	ENST00000401548.3	+	20	2477	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	MEI1_ENST00000400107.1_Missense_Mutation_p.E181K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.E131K	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGCAGCTATGAGGAACTGGA	0.542																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2437-2439)Gag>Aag		meiosis inhibitor 1							127.0	123.0	124.0					22																	42166858		2013	4175	6188	SO:0001583	missense	150365						binding	g.chr22:42166858G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2437G>A	22.37:g.42166858G>A	ENSP00000384115:p.Glu813Lys					MEI1_ENST00000540880.1_Missense_Mutation_p.E131K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.E181K	p.E813K	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			20	2477	+			813						Missense_Mutation	SNP	ENST00000401548.3	37	c.2437G>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035639	0.35893	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.44482	1.95;1.95;0.92	4.99	2.65	0.31530	.	0.569519	0.19134	N	0.121846	T	0.29783	0.0744	L	0.54323	1.7	0.19575	N	0.999965	P;B;P;P	0.43938	0.458;0.386;0.822;0.642	B;B;B;B	0.35039	0.137;0.085;0.194;0.14	T	0.30387	-0.9980	10	0.56958	D	0.05	-4.3577	4.7339	0.12979	0.2015:0.2362:0.5623:0.0	.	181;56;181;813	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	K	813;181;131	ENSP00000384115:E813K;ENSP00000382978:E181K;ENSP00000437436:E131K	ENSP00000382978:E181K	E	+	1	0	MEI1	40496804	0.998000	0.40836	0.655000	0.29622	0.974000	0.67602	2.790000	0.47821	1.236000	0.43740	0.655000	0.94253	GAG		0.542	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		23	43	0	0	0	1	0	23	43				
LY75	4065	broad.mit.edu	37	2	160692107	160692107	+	Missense_Mutation	SNP	C	C	T	rs374255543		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:160692107C>T	ENST00000263636.4	-	26	3584	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1186H|LY75_ENST00000553424.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1186H|LY75_ENST00000554112.1_Missense_Mutation_p.R1186H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1186	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGCCCAGCGACTAAAATG	0.413																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(3556-3558)cGc>cAc		lymphocyte antigen 75							114.0	106.0	109.0					2																	160692107		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160692107C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3557G>A	2.37:g.160692107C>T	ENSP00000263636:p.Arg1186His					LY75_ENST00000553424.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1186H|LY75_ENST00000554112.1_Missense_Mutation_p.R1186H	p.R1186H	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	26	3584	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.3557G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603952	0.87157	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.89	5.0	0.66597	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.458258	0.16216	N	0.224276	T	0.64549	0.2608	L	0.45744	1.44	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.72982	0.965;0.979;0.855	T	0.61456	-0.7059	10	0.42905	T	0.14	-6.085	12.127	0.53922	0.0:0.9192:0.0:0.0808	.	1186;1186;1186	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	1186	ENSP00000451511:R1186H;ENSP00000451446:R1186H;ENSP00000263636:R1186H;ENSP00000423463:R1186H;ENSP00000421035:R1186H	ENSP00000423463:R1186H	R	-	2	0	LY75;LY75-CD302	160400353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	1.468000	0.48064	0.655000	0.94253	CGC		0.413	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			20	32	0	0	0	1	0	20	32				
KLK5	25818	broad.mit.edu	37	19	51453167	51453167	+	Silent	SNP	G	G	A	rs201029495		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:51453167G>A	ENST00000336334.3	-	3	631	c.279C>T	c.(277-279)tgC>tgT	p.C93C	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Silent_p.C93C|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.C93C	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	93	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACACCGCCCCGCAGTAGAGCT	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		8732	0.0		0.0	False		,,,				2504	0.0					ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(277-279)tgC>tgT		kallikrein-related peptidase 5							45.0	39.0	41.0					19																	51453167		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453167G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.279C>T	19.37:g.51453167G>A						KLK5_ENST00000391809.2_Silent_p.C93C|KLK5_ENST00000593428.1_Silent_p.C93C	p.C93C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	3	631	-		all_neural(266;0.026)	93			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.279C>T	CCDS12810.1																																																																																				0.627	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		16	30	0	0	0	1	0	16	30				
LILRP2	79166	broad.mit.edu	37	19	55221848	55221848	+	RNA	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:55221848A>G	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		TCAGCTCAGAACGAGGTGGGG	0.637																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221848A>G	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221848A>G														0	1415	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		7	30	0	0	0	1	0	7	30				
MKRN1	23608	broad.mit.edu	37	7	140154464	140154464	+	Silent	SNP	G	G	A	rs147839699		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:140154464G>A	ENST00000255977.2	-	8	1526	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MKRN1_ENST00000474576.1_Silent_p.N370N|MKRN1_ENST00000437223.2_Silent_p.N168N	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	434					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTCTTCATCGTTGTCAAAGG	0.498													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21788	0.0		0.0	False		,,,				2504	0.0					ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1300-1302)aaC>aaT		makorin ring finger protein 1		G		2,4404	6.2+/-15.9	0,2,2201	114.0	94.0	101.0		1302	4.0	1.0	7	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous	MKRN1	NM_013446.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		434/483	140154464	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154464G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1302C>T	7.37:g.140154464G>A						MKRN1_ENST00000474576.1_Silent_p.N370N|MKRN1_ENST00000437223.2_Silent_p.N168N	p.N434N	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			8	1526	-	Melanoma(164;0.00956)		434					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.1302C>T	CCDS5860.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.48	1.950777	0.34471	4.54E-4	0.0	ENSG00000133606	ENST00000463142	.	.	.	4.92	3.96	0.45880	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45512	-0.9256	5	0.24483	T	0.36	.	10.1504	0.42788	0.1632:0.0:0.8368:0.0	.	.	.	.	M	87	.	ENSP00000417346:T87M	T	-	2	0	MKRN1	139800933	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.470000	0.53100	2.563000	0.86464	0.650000	0.86243	ACG		0.498	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		16	41	0	0	0	1	0	16	41				
LILRP2	79166	broad.mit.edu	37	19	55221850	55221850	+	RNA	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:55221850G>A	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		AGCTCAGAACGAGGTGGGGCA	0.637																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221850G>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221850G>A														0	1415	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		7	33	0	0	0	1	0	7	33				
CA14	23632	broad.mit.edu	37	1	150234987	150234987	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:150234987C>A	ENST00000369111.4	+	5	1433	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	155					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TGAGAGGCCTCAGGGCCTGGC	0.498																																						ENST00000369111.4																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(463-465)Cag>Aag		carbonic anhydrase XIV							117.0	114.0	115.0					1																	150234987		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150234987C>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.463C>A	1.37:g.150234987C>A	ENSP00000358107:p.Gln155Lys						p.Q155K	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1433	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		155					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.463C>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028145	0.75390	.	.	ENSG00000118298	ENST00000369111	T	0.66099	-0.19	5.95	5.95	0.96441	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.240324	0.43260	D	0.000592	T	0.43634	0.1256	N	0.24115	0.695	0.35598	D	0.807636	D	0.54207	0.965	P	0.47015	0.534	T	0.54918	-0.8221	10	0.66056	D	0.02	.	13.4541	0.61189	0.0:0.843:0.157:0.0	.	155	Q9ULX7	CAH14_HUMAN	K	155	ENSP00000358107:Q155K	ENSP00000358107:Q155K	Q	+	1	0	CA14	148501611	0.990000	0.36364	0.988000	0.46212	0.912000	0.54170	2.303000	0.43646	2.817000	0.96982	0.563000	0.77884	CAG		0.498	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		40	59	1	0	3.38236e-24	1	3.71505e-24	40	59				
AGBL5	60509	broad.mit.edu	37	2	27278663	27278663	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:27278663G>A	ENST00000360131.4	+	7	1181	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R341H|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	341					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCACTCTCGTCTGAACTCC	0.542																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(1021-1023)cGt>cAt		ATP/GTP binding protein-like 5							106.0	94.0	98.0					2																	27278663		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278663G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1022G>A	2.37:g.27278663G>A	ENSP00000353249:p.Arg341His					AGBL5_ENST00000323064.8_Missense_Mutation_p.R341H	p.R341H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			7	1181	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		341					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1022G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435072	0.62955	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.34275	1.37;1.37	5.88	5.01	0.66863	.	0.294275	0.41712	N	0.000826	T	0.28333	0.0700	L	0.31804	0.96	0.38729	D	0.953615	B;B;B	0.25007	0.116;0.024;0.095	B;B;B	0.22880	0.042;0.025;0.025	T	0.09335	-1.0679	10	0.38643	T	0.18	-1.3506	14.0673	0.64839	0.0736:0.0:0.9264:0.0	.	341;341;341	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	H	341	ENSP00000323681:R341H;ENSP00000353249:R341H	ENSP00000323681:R341H	R	+	2	0	AGBL5	27132167	0.929000	0.31497	0.669000	0.29828	0.978000	0.69477	4.148000	0.58085	1.500000	0.48636	0.491000	0.48974	CGT		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		24	42	0	0	0	1	0	24	42				
DSC3	1825	broad.mit.edu	37	18	28598767	28598767	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:28598767C>T	ENST00000360428.4	-	8	1023		c.e8-1		DSC3_ENST00000434452.1_Splice_Site	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCTACAACCTGGAAACAAA	0.333																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e8-1		desmocollin 3							109.0	100.0	103.0					18																	28598767		2202	4299	6501	SO:0001630	splice_region_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28598767C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.943-1G>A	18.37:g.28598767C>T						DSC3_ENST00000360428.4_Splice_Site		NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		8	1097	-								A6NN35|Q14200|Q9HAZ9	Splice_Site	SNP	ENST00000360428.4	37		CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135715	0.77662	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.689	0.91576	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSC3	26852765	1.000000	0.71417	0.996000	0.52242	0.867000	0.49689	6.445000	0.73456	2.739000	0.93911	0.579000	0.79373	.		0.333	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	Intron	16	36	0	0	0	1	0	16	36				
ZBTB11	27107	broad.mit.edu	37	3	101370258	101370258	+	Missense_Mutation	SNP	T	T	G	rs549056576		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:101370258T>G	ENST00000312938.4	-	11	3494	c.2914A>C	c.(2914-2916)Atg>Ctg	p.M972L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	972					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTTCCTGCATGCCTGCTGTT	0.448																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2914-2916)Atg>Ctg		zinc finger and BTB domain containing 11							205.0	176.0	186.0					3																	101370258		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370258T>G	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2914A>C	3.37:g.101370258T>G	ENSP00000326200:p.Met972Leu						p.M972L	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			11	3494	-			972					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2914A>C	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	8.937	0.964863	0.18583	.	.	ENSG00000066422	ENST00000312938	T	0.09445	2.98	5.61	2.04	0.26737	.	0.216731	0.49305	D	0.000149	T	0.03305	0.0096	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.29301	T	0.29	-4.2963	5.2562	0.15548	0.0:0.2815:0.1431:0.5754	.	972	O95625	ZBT11_HUMAN	L	972	ENSP00000326200:M972L	ENSP00000326200:M972L	M	-	1	0	ZBTB11	102852948	0.998000	0.40836	0.931000	0.37212	0.951000	0.60555	0.734000	0.26101	0.432000	0.26286	0.454000	0.30748	ATG		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		40	88	0	0	0	1	0	40	88				
TRAT1	50852	broad.mit.edu	37	3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	rs148894492	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:108549621C>T	ENST00000295756.6	+	2	342	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	38					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16849	0.0		0.001	False		,,,				2504	0.0					ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(112-114)Cga>Tga		T cell receptor associated transmembrane adaptor 1		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	142.0	136.0	138.0		112	1.1	0.4	3	dbSNP_134	138	0,8600		0,0,4300	yes	stop-gained	TRAT1	NM_016388.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		38/187	108549621	1,13005	2203	4300	6503	SO:0001587	stop_gained	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549621C>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.112C>T	3.37:g.108549621C>T	ENSP00000295756:p.Arg38*					TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	p.R38*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			2	342	+			38					Q9NZX5	Nonsense_Mutation	SNP	ENST00000295756.6	37	c.112C>T	CCDS33813.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.819018	0.96982	2.27E-4	0.0	ENSG00000163519	ENST00000295756	.	.	.	5.16	1.11	0.20524	.	0.444625	0.18520	N	0.138817	.	.	.	.	.	.	0.48571	D	0.99967	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9002	11.9934	0.53188	0.6059:0.3941:0.0:0.0	.	.	.	.	X	38	.	ENSP00000295756:R38X	R	+	1	2	TRAT1	110032311	0.346000	0.24844	0.413000	0.26509	0.880000	0.50808	0.102000	0.15272	0.015000	0.14971	0.591000	0.81541	CGA		0.418	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		24	42	0	0	0	1	0	24	42				
NID2	22795	broad.mit.edu	37	14	52535572	52535572	+	Silent	SNP	G	G	C			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:52535572G>C	ENST00000216286.5	-	1	140	c.141C>G	c.(139-141)ctC>ctG	p.L47L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	47					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCCTGCAGGAGCTGGTCCC	0.622																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(139-141)ctC>ctG		nidogen 2 (osteonidogen)							79.0	70.0	73.0					14																	52535572		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52535572G>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.141C>G	14.37:g.52535572G>C						NID2_ENST00000541773.1_Intron	p.L47L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			1	140	-	Breast(41;0.0639)|all_epithelial(31;0.123)		47					A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.141C>G	CCDS9706.1																																																																																				0.622	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			22	45	0	0	0	1	0	22	45				
SLC35F3	148641	broad.mit.edu	37	1	234452366	234452366	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:234452366G>A	ENST00000366617.3	+	4	868	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A283T			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	214					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGCCATCCTCGCCATCGCTGG	0.577																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(847-849)Gcc>Acc		solute carrier family 35, member F3							267.0	261.0	263.0					1																	234452366		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234452366G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.640G>A	1.37:g.234452366G>A	ENSP00000355576:p.Ala214Thr					SLC35F3_ENST00000366617.3_Missense_Mutation_p.A214T	p.A283T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		5	992	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	214					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.847G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.725361	0.96847	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.70986	-0.53;-0.53	5.73	5.73	0.89815	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.81128	0.4758	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78770	-0.2074	10	0.40728	T	0.16	-24.1132	19.8785	0.96886	0.0:0.0:1.0:0.0	.	214;283	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	T	283;214	ENSP00000355577:A283T;ENSP00000355576:A214T	ENSP00000355576:A214T	A	+	1	0	SLC35F3	232518989	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.886000	0.87288	2.695000	0.91970	0.655000	0.94253	GCC		0.577	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		165	221	0	0	0	1	0	165	221				
RELN	5649	broad.mit.edu	37	7	103138353	103138353	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103138353C>T	ENST00000428762.1	-	55	9023	c.8864G>A	c.(8863-8865)cGc>cAc	p.R2955H	RELN_ENST00000343529.5_Missense_Mutation_p.R2955H|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.R2955H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2955					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTACCGATGCGCCCCCAGTA	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8863-8865)cGc>cAc		reelin							115.0	87.0	97.0					7																	103138353		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138353C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8864G>A	7.37:g.103138353C>T	ENSP00000392423:p.Arg2955His					RELN_ENST00000343529.5_Missense_Mutation_p.R2955H|RELN_ENST00000424685.2_Missense_Mutation_p.R2955H|CTB-107G13.1_ENST00000422488.1_RNA	p.R2955H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9023	-			2955					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8864G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478511	0.96291	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	5.89	5.89	0.94794	Neuraminidase (3);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.924	T	0.47114	-0.9142	10	0.72032	D	0.01	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	2955;2955	P78509-2;P78509	.;RELN_HUMAN	H	2955;2955;2955;472;2955	ENSP00000392423:R2955H;ENSP00000345694:R2955H;ENSP00000388446:R2955H	ENSP00000345694:R2955H	R	-	2	0	RELN	102925589	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.270000	0.78493	2.793000	0.96121	0.655000	0.94253	CGC		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	45	0	0	0	1	0	13	45				
MIR494	574452	broad.mit.edu	37	14	101498379	101498379	+	RNA	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:101498379C>T	ENST00000349529.2	+	0	81				MIR495_ENST00000385010.1_RNA|MIR543_ENST00000390751.1_RNA|MIR1193_ENST00000408109.3_RNA	NR_030174.1				microRNA 494																		GAAACATTCGCGGTGCACTTC	0.498																																						ENST00000390751.1																			0																				275.0	217.0	235.0					14																	101498379		1568	3582	5150			0							g.chr14:101498379C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101498379C>T								NR_030619.1						0	56	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.498	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		16	29	0	0	0	1	0	16	29				
DNAH2	146754	broad.mit.edu	37	17	7710584	7710584	+	Missense_Mutation	SNP	G	G	A	rs200910918		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:7710584G>A	ENST00000572933.1	+	62	11019	c.9559G>A	c.(9559-9561)Ggc>Agc	p.G3187S	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3187S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3187	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATATCATCGGCCGCGTCTC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16724	0.001		0.0	False		,,,				2504	0.0					ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9559-9561)Ggc>Agc		dynein, axonemal, heavy chain 2							84.0	85.0	85.0					17																	7710584		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7710584G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9559G>A	17.37:g.7710584G>A	ENSP00000458355:p.Gly3187Ser					DNAH2_ENST00000389173.2_Missense_Mutation_p.G3187S	p.G3187S			Q9P225	DYH2_HUMAN			62	11019	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3187			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9559G>A	CCDS32551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	22.5	4.293162	0.80914	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.73575	-0.76	5.28	5.28	0.74379	Dynein heavy chain, coiled coil stalk (1);	0.123358	0.53938	D	0.000047	T	0.81014	0.4735	L	0.58583	1.82	0.80722	D	1	D;P	0.63046	0.992;0.483	P;B	0.58660	0.843;0.411	T	0.76564	-0.2913	10	0.21540	T	0.41	.	18.107	0.89523	0.0:0.0:1.0:0.0	.	3148;3187	Q9P225-2;Q9P225	.;DYH2_HUMAN	S	3148;3187	ENSP00000373825:G3187S	ENSP00000353818:G3148S	G	+	1	0	DNAH2	7651309	1.000000	0.71417	0.986000	0.45419	0.777000	0.43975	6.810000	0.75216	2.655000	0.90218	0.580000	0.79431	GGC		0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		41	65	0	0	0	1	0	41	65				
MYH13	8735	broad.mit.edu	37	17	10248578	10248578	+	Missense_Mutation	SNP	C	C	T	rs373641414		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:10248578C>T	ENST00000418404.3	-	14	1688	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	MYH13_ENST00000252172.4_Missense_Mutation_p.E509K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	509	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACTCCCACTCGATGCCTTCC	0.512																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1525-1527)Gag>Aag		myosin, heavy chain 13, skeletal muscle		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	196.0	169.0	178.0		1525	3.4	1.0	17		178	0,8600		0,0,4300	no	missense	MYH13	NM_003802.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	509/1939	10248578	2,13004	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248578C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1525G>A	17.37:g.10248578C>T	ENSP00000404570:p.Glu509Lys					MYH13_ENST00000570743.1_Missense_Mutation_p.E509K|MYH13_ENST00000252172.4_Missense_Mutation_p.E509K	p.E509K			Q9UKX3	MYH13_HUMAN			14	1688	-			509			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1525G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795500	0.70452	4.54E-4	0.0	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87650	-2.28	4.46	3.41	0.39046	Myosin head, motor domain (2);	.	.	.	.	D	0.87337	0.6152	M	0.76574	2.34	0.38310	D	0.943231	B	0.27068	0.167	B	0.30572	0.117	D	0.89325	0.3643	9	0.72032	D	0.01	.	15.1308	0.72520	0.0:0.8581:0.1419:0.0	.	509	Q9UKX3	MYH13_HUMAN	K	509;184	ENSP00000252172:E509K	ENSP00000252172:E509K	E	-	1	0	MYH13	10189303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.640000	0.61368	2.471000	0.83476	0.655000	0.94253	GAG		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		38	64	0	0	0	1	0	38	64				
A1CF	29974	broad.mit.edu	37	10	52575967	52575967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:52575967G>A	ENST00000373993.1	-	7	984	c.940C>T	c.(940-942)Cga>Tga	p.R314*	A1CF_ENST00000373997.3_Nonsense_Mutation_p.R314*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R314*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R322*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R259*|A1CF_ENST00000395489.2_Nonsense_Mutation_p.R307*|A1CF_ENST00000374001.2_Nonsense_Mutation_p.R314*|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	314					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGTGCCTCGGGTATACCTA	0.493																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(919-921)Cga>Tga		APOBEC1 complementation factor							148.0	143.0	145.0					10																	52575967		2203	4300	6503	SO:0001587	stop_gained	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52575967G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.940C>T	10.37:g.52575967G>A	ENSP00000363105:p.Arg314*					ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R322*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R314*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R259*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R314*	p.R307*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			11	1315	-			314					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	c.919C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587421	0.96590	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	5.78	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6925	0.51525	0.0:0.0:0.6786:0.3214	.	.	.	.	X	314;314;314;322;314;259;297;307	.	ENSP00000282641:R314X	R	-	1	2	A1CF	52245973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.757000	0.38400	1.413000	0.46997	0.650000	0.86243	CGA		0.493	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		10	12	0	0	0	1	0	10	12				
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	rs199933797		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:245862232G>A	ENST00000407071.2	+	14	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19181	0.0		0.001	False		,,,				2504	0.0					ENST00000366518.4																			1	Substitution - Missense(1)	p.R2024H(1)	ovary(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4927-4929)cGc>cAc		kinesin family member 26B							73.0	78.0	76.0					1																	245862232		2085	4213	6298	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862232G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6071G>A	1.37:g.245862232G>A	ENSP00000385545:p.Arg2024His					KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H	p.R1643H			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		11	5032	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2024					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4928G>A	CCDS44342.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.184039	0.78677	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87103	-2.21;-2.2	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	H	2024;1643;1640	ENSP00000385545:R2024H;ENSP00000355475:R1643H	ENSP00000355475:R1643H	R	+	2	0	KIF26B	243928855	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.033000	0.88852	2.752000	0.94435	0.655000	0.94253	CGC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		17	31	0	0	0	1	0	17	31				
ROS1	6098	broad.mit.edu	37	6	117638325	117638325	+	Missense_Mutation	SNP	C	C	T	rs3752566	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:117638325C>T	ENST00000368508.3	-	38	6314	c.6116G>A	c.(6115-6117)cGt>cAt	p.R2039H	GOPC_ENST00000467125.1_5'Flank|ROS1_ENST00000368507.3_Missense_Mutation_p.R2033H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2039	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs3752566).		cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCGGGCTTTACGCAAATAAGT	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								C|||	2	0.000399361	0.0	0.0	5008	,	,		20487	0.002		0.0	False		,,,				2504	0.0					ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6115-6117)cGt>cAt		c-ros oncogene 1 , receptor tyrosine kinase		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	132.0	122.0	125.0		6116	5.3	1.0	6	dbSNP_107	125	0,8600		0,0,4300	yes	missense	ROS1	NM_002944.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2039/2348	117638325	1,13005	2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117638325C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6116G>A	6.37:g.117638325C>T	ENSP00000357494:p.Arg2039His					ROS1_ENST00000368507.3_Missense_Mutation_p.R2033H	p.R2039H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	38	6314	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2039		R -> H (in dbSNP:rs3752566).	Protein kinase.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6116G>A	CCDS5116.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	24.8	4.573733	0.86542	2.27E-4	0.0	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.83914	-1.78;-1.78	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000012	T	0.81607	0.4858	L	0.35542	1.07	0.50039	D	0.999847	D	0.62365	0.991	P	0.56612	0.802	D	0.84554	0.0646	10	0.87932	D	0	.	17.9782	0.89132	0.0:1.0:0.0:0.0	rs3752566;rs52805823;rs3752566	2039	P08922	ROS1_HUMAN	H	2039;2033	ENSP00000357494:R2039H;ENSP00000357493:R2033H	ENSP00000357493:R2033H	R	-	2	0	ROS1	117745018	0.999000	0.42202	0.998000	0.56505	0.977000	0.68977	4.231000	0.58639	2.487000	0.83934	0.655000	0.94253	CGT		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			22	44	0	0	0	1	0	22	44				
TGM6	343641	broad.mit.edu	37	20	2375141	2375141	+	Silent	SNP	C	C	T	rs147506152		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		17602	0.0		0.001	False		,,,				2504	0.0					ENST00000202625.2																			1	Substitution - coding silent(1)	p.G17G(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(49-51)ggC>ggT		transglutaminase 6	L-Glutamine(DB00130)						43.0	40.0	41.0					20																	2375141		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375141C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.51C>T	20.37:g.2375141C>T						TGM6_ENST00000381423.1_Silent_p.G17G|TGM6_ENST00000477505.1_3'UTR	p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			2	112	+			17					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.51C>T	CCDS13025.1																																																																																				0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		20	19	0	0	0	1	0	20	19				
PRR27	401137	broad.mit.edu	37	4	71024191	71024191	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:71024191G>A	ENST00000344526.5	+	3	411	c.222G>A	c.(220-222)tcG>tcA	p.S74S	C4orf40_ENST00000502294.1_Silent_p.S74S|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		74	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGTTACCTTCGTATCCCTGGA	0.473																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(220-222)tcG>tcA		chromosome 4 open reading frame 40							242.0	220.0	227.0					4																	71024191		2203	4300	6503	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71024191G>A																												ENST00000344526.5:c.222G>A	4.37:g.71024191G>A						C4orf40_ENST00000502294.1_Silent_p.S74S|C4orf40_ENST00000502441.2_Intron	p.S74S	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	411	+			74					A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.222G>A	CCDS3535.1																																																																																				0.473	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			61	103	0	0	0	1	0	61	103				
CLEC9A	283420	broad.mit.edu	37	12	10218182	10218182	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:10218182C>T	ENST00000355819.1	+	9	1290	c.677C>T	c.(676-678)aCg>aTg	p.T226M		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AACTGCAGCACGTGGAAGTAT	0.423																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(676-678)aCg>aTg		C-type lectin domain family 9, member A							216.0	181.0	193.0					12																	10218182		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10218182C>T		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.677C>T	12.37:g.10218182C>T	ENSP00000348074:p.Thr226Met						p.T226M	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			9	1290	+			226			C-type lectin.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.677C>T	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	5.425	0.263511	0.10294	.	.	ENSG00000197992	ENST00000355819	T	0.19669	2.13	4.79	-9.57	0.00562	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	2.272550	0.02443	N	0.084798	T	0.11410	0.0278	N	0.26042	0.785	0.09310	N	1	P	0.43633	0.813	B	0.40329	0.326	T	0.28235	-1.0050	10	0.32370	T	0.25	.	2.0695	0.03610	0.4097:0.2796:0.1076:0.2031	.	226	Q6UXN8	CLC9A_HUMAN	M	226	ENSP00000348074:T226M	ENSP00000348074:T226M	T	+	2	0	CLEC9A	10109449	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-4.861000	0.00177	-4.775000	0.00032	-2.148000	0.00335	ACG		0.423	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		31	55	0	0	0	1	0	31	55				
PLCXD1	55344	broad.mit.edu	37	X	209794	209794	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:209794G>A	ENST00000381657.2	+	6	1156	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PLCXD1_ENST00000399012.1_Silent_p.L214L|PLCXD1_ENST00000381663.3_Silent_p.L214L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	214					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCACGAGCTGTGGCCAGGAG	0.637																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(640-642)ctG>ctA		phosphatidylinositol-specific phospholipase C, X domain containing 1							97.0	90.0	92.0					X																	209794		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:209794G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.642G>A	X.37:g.209794G>A						PLCXD1_ENST00000399012.1_Silent_p.L214L|PLCXD1_ENST00000381663.3_Silent_p.L214L	p.L214L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			6	1156	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	214					A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.642G>A	CCDS14103.1																																																																																				0.637	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		19	31	0	0	0	1	0	19	31				
LAMA1	284217	broad.mit.edu	37	18	6985310	6985310	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:6985310C>A	ENST00000389658.3	-	39	5679	c.5586G>T	c.(5584-5586)agG>agT	p.R1862S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1862	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGACTGCGTTCCTTTGGGACA	0.502																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5584-5586)agG>agT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						199.0	166.0	177.0					18																	6985310		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985310C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5586G>T	18.37:g.6985310C>A	ENSP00000374309:p.Arg1862Ser						p.R1862S	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			39	5679	-		Colorectal(10;0.172)	1862			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5586G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	9.887	1.203180	0.22121	.	.	ENSG00000101680	ENST00000389658	T	0.16073	2.37	5.58	-1.96	0.07525	.	0.209821	0.41500	D	0.000873	T	0.12689	0.0308	M	0.69823	2.125	0.26406	N	0.976349	P	0.40144	0.704	B	0.30943	0.122	T	0.42015	-0.9476	10	0.12430	T	0.62	.	11.0006	0.47602	0.0:0.5798:0.0:0.4202	.	1862	P25391	LAMA1_HUMAN	S	1862	ENSP00000374309:R1862S	ENSP00000374309:R1862S	R	-	3	2	LAMA1	6975310	0.052000	0.20516	0.006000	0.13384	0.022000	0.10575	-0.055000	0.11807	-0.353000	0.08224	0.655000	0.94253	AGG		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		26	43	1	0	6.32553e-13	1	6.72715e-13	26	43				
CLIC3	9022	broad.mit.edu	37	9	139889191	139889191	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:139889191G>A	ENST00000494426.1	-	6	912	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	218	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGACACGTGTATTTGAA	0.682																																						ENST00000494426.1																			0				lung(1)|skin(1)	2						c.(652-654)aCg>aTg		chloride intracellular channel 3							28.0	30.0	29.0					9																	139889191		2188	4290	6478	SO:0001583	missense	9022				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity	g.chr9:139889191G>A	AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"""Ion channels / Chloride channels : Intracellular"""	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.653C>T	9.37:g.139889191G>A	ENSP00000419378:p.Thr218Met					CLIC3_ENST00000480181.1_5'UTR	p.T218M	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	912	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	218			GST C-terminal.		Q5SPZ7	Missense_Mutation	SNP	ENST00000494426.1	37	c.653C>T	CCDS7021.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894759	0.72639	.	.	ENSG00000169583	ENST00000494426	D	0.94862	-3.54	4.42	4.42	0.53409	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.90870	3.155	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	.	16.7909	0.85589	0.0:0.0:1.0:0.0	.	218	O95833	CLIC3_HUMAN	M	218	ENSP00000419378:T218M	ENSP00000419378:T218M	T	-	2	0	CLIC3	139009012	1.000000	0.71417	0.996000	0.52242	0.215000	0.24574	3.344000	0.52174	2.285000	0.76669	0.491000	0.48974	ACG		0.682	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055173.2	NM_004669		6	8	0	0	0	1	0	6	8				
RELN	5649	broad.mit.edu	37	7	103629745	103629745	+	Missense_Mutation	SNP	G	G	A	rs145135688		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103629745G>A	ENST00000428762.1	-	1	218	c.59C>T	c.(58-60)aCg>aTg	p.T20M	RELN_ENST00000343529.5_Missense_Mutation_p.T20M|RELN_ENST00000424685.2_Missense_Mutation_p.T20M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	20					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCCCTCAGCGTCGCCCCCAG	0.736													G|||	1	0.000199681	0.0008	0.0	5008	,	,		9313	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(58-60)aCg>aTg		reelin		G	MET/THR,MET/THR	5,4397		0,5,2196	15.0	18.0	17.0		59,59	3.3	1.0	7	dbSNP_134	17	0,8594		0,0,4297	no	missense,missense	RELN	NM_005045.3,NM_173054.2	81,81	0,5,6493	AA,AG,GG		0.0,0.1136,0.0385	benign,benign	20/3461,20/3459	103629745	5,12991	2201	4297	6498	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629745G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.59C>T	7.37:g.103629745G>A	ENSP00000392423:p.Thr20Met					RELN_ENST00000428762.1_Missense_Mutation_p.T20M|RELN_ENST00000343529.5_Missense_Mutation_p.T20M	p.T20M			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	1	218	-			20					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.59C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843340	0.32606	0.001136	0.0	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23754	1.89;1.89;1.89	4.3	3.32	0.38043	.	0.278938	0.27591	U	0.018684	T	0.11367	0.0277	N	0.08118	0	0.25248	N	0.989691	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.13575	-1.0504	10	0.31617	T	0.26	.	7.255	0.26171	0.1812:0.0:0.8188:0.0	.	20;20	P78509-2;P78509	.;RELN_HUMAN	M	20	ENSP00000392423:T20M;ENSP00000345694:T20M;ENSP00000388446:T20M	ENSP00000345694:T20M	T	-	2	0	RELN	103416981	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.034000	0.49751	2.212000	0.71576	0.563000	0.77884	ACG		0.736	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	36	0	0	0	1	0	13	36				
TRDV1	28518	broad.mit.edu	37	14	22564832	22564832	+	RNA	SNP	G	G	A	rs575717965		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:22564832G>A	ENST00000390452.2	+	0	301									T cell receptor delta variable 1																		GAAATCCGTCGCCTTAACCAT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20330	0.0		0.0	False		,,,				2504	0.001					ENST00000390452.2																			0																				54.0	54.0	54.0					14																	22564832		1867	4104	5971			0							g.chr14:22564832G>A	M22198		14q11.2	2012-02-07			ENSG00000211804	ENSG00000211804		"""T cell receptors / TRD locus"""	12262	other	T cell receptor gene						3186718	Standard	NG_001332		Approved	hDV101S1			OTTHUMG00000170651		14.37:g.22564832G>A														0	301	+									RNA	SNP	ENST00000390452.2	37																																																																																						0.408	TRDV1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409899.1	NG_001332		18	36	0	0	0	1	0	18	36				
HBS1L	10767	broad.mit.edu	37	6	135290403	135290403	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:135290403G>A	ENST00000367837.5	-	16	2077	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	HBS1L_ENST00000445176.2_Missense_Mutation_p.T348M|HBS1L_ENST00000527578.1_Missense_Mutation_p.T460M|HBS1L_ENST00000367826.2_Missense_Mutation_p.T582M|HBS1L_ENST00000415177.2_Missense_Mutation_p.T559M|HBS1L_ENST00000367824.4_Missense_Mutation_p.T460M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	624					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GACTTCACCCGTGCTTTTGTT	0.318																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1870-1872)aCg>aTg		HBS1-like (S. cerevisiae)							93.0	89.0	90.0					6																	135290403		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135290403G>A	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1871C>T	6.37:g.135290403G>A	ENSP00000356811:p.Thr624Met					HBS1L_ENST00000415177.2_Missense_Mutation_p.T559M|HBS1L_ENST00000445176.2_Missense_Mutation_p.T348M|HBS1L_ENST00000527578.1_Missense_Mutation_p.T460M|HBS1L_ENST00000367824.4_Missense_Mutation_p.T460M|HBS1L_ENST00000367826.2_Missense_Mutation_p.T582M	p.T624M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	16	2077	-	Colorectal(23;0.221)		624					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1871C>T	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407931	0.83340	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.70986	-0.51;-0.48;-0.47;-0.53;-0.48;-0.52;0.6	5.81	5.81	0.92471	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.041756	0.85682	D	0.000000	D	0.88127	0.6353	H	0.94183	3.505	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74674	0.972;0.984	D	0.90445	0.4434	10	0.87932	D	0	-11.1556	20.0745	0.97737	0.0:0.0:1.0:0.0	.	582;624	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	624;460;559;582;460;494;348	ENSP00000356811:T624M;ENSP00000436256:T460M;ENSP00000389826:T559M;ENSP00000356800:T582M;ENSP00000356798:T460M;ENSP00000434533:T494M;ENSP00000415305:T348M	ENSP00000356798:T460M	T	-	2	0	HBS1L	135332096	1.000000	0.71417	0.960000	0.40013	0.999000	0.98932	4.910000	0.63321	2.750000	0.94351	0.655000	0.94253	ACG		0.318	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			3	40	0	0	0	1	0	3	40				
COL1A2	1278	broad.mit.edu	37	7	94038132	94038132	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:94038132C>T	ENST00000297268.6	+	16	1260	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	263					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P263P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCTGGCCCCAAGGTAAAAA	0.433										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	1	Substitution - coding silent(1)	p.P263P(1)	upper_aerodigestive_tract(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(787-789)ccC>ccT		collagen, type I, alpha 2	Collagenase(DB00048)						52.0	53.0	53.0					7																	94038132		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038132C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.789C>T	7.37:g.94038132C>T		HNSCC(75;0.22)					p.P263P	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	1260	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		263					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.789C>T	CCDS34682.1																																																																																				0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		11	54	0	0	0	1	0	11	54				
SEMA4A	64218	broad.mit.edu	37	1	156144877	156144877	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:156144877G>A	ENST00000368285.3	+	13	1702	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	SEMA4A_ENST00000355014.2_Splice_Site_p.G479S|SEMA4A_ENST00000368284.1_Splice_Site_p.G347S|SEMA4A_ENST00000368286.2_Splice_Site_p.G347S|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Splice_Site_p.G479S	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	479	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTCTTCCAGGGTGCAGTGTT	0.607																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.e13-1		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							137.0	133.0	134.0					1																	156144877		2203	4300	6503	SO:0001630	splice_region_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156144877G>A	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1435-1G>A	1.37:g.156144877G>A						SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Splice_Site_p.G347_splice|SEMA4A_ENST00000368282.1_Splice_Site_p.G479_splice|SEMA4A_ENST00000355014.2_Splice_Site_p.G479_splice|SEMA4A_ENST00000368284.1_Splice_Site_p.G347_splice	p.G479_splice	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			13	1702	+	Hepatocellular(266;0.158)		479			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Splice_Site	SNP	ENST00000368285.3	37	c.1434_splice	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064958	0.36470	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.27	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.456011	0.23736	N	0.045064	T	0.07954	0.0199	L	0.39020	1.185	0.49687	D	0.999818	P;P	0.39157	0.662;0.662	B;B	0.39562	0.303;0.303	T	0.14896	-1.0456	9	.	.	.	.	10.0934	0.42460	0.0986:0.0:0.9013:0.0	.	347;479	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	S	479;479;347;441;441;347;479	ENSP00000347117:G479S;ENSP00000357268:G479S;ENSP00000357267:G347S;ENSP00000357269:G347S;ENSP00000357265:G479S	.	G	+	1	0	SEMA4A	154411501	1.000000	0.71417	0.826000	0.32828	0.377000	0.30045	3.503000	0.53340	1.029000	0.39812	-0.215000	0.12644	GGT		0.607	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	Missense_Mutation	46	85	0	0	0	1	0	46	85				
LUZP2	338645	broad.mit.edu	37	11	24936025	24936025	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:24936025A>G	ENST00000336930.6	+	7	529	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	LUZP2_ENST00000533227.1_Missense_Mutation_p.K69E			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	155						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTACAGTCAAAAAAAATCCA	0.348																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(205-207)Aaa>Gaa		leucine zipper protein 2							90.0	89.0	89.0					11																	24936025		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:24936025A>G	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.463A>G	11.37:g.24936025A>G	ENSP00000336817:p.Lys155Glu					LUZP2_ENST00000336930.6_Missense_Mutation_p.K155E	p.K69E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			7	492	+			155					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.205A>G	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449597	0.63178	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	.	0.119882	0.53938	D	0.000058	T	0.35711	0.0941	L	0.34521	1.04	0.38147	D	0.938626	D	0.56035	0.974	P	0.59221	0.854	T	0.27872	-1.0061	10	0.62326	D	0.03	-18.2677	13.6113	0.62080	1.0:0.0:0.0:0.0	.	155	Q86TE4	LUZP2_HUMAN	E	155;69	ENSP00000336817:K155E;ENSP00000432952:K69E	ENSP00000336817:K155E	K	+	1	0	LUZP2	24892601	1.000000	0.71417	0.995000	0.50966	0.376000	0.30014	5.865000	0.69583	2.093000	0.63338	0.383000	0.25322	AAA		0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		18	24	0	0	0	1	0	18	24				
DCC	1630	broad.mit.edu	37	18	51013239	51013239	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:51013239G>A	ENST00000442544.2	+	26	4425	c.3809G>A	c.(3808-3810)tGt>tAt	p.C1270Y	DCC_ENST00000581580.1_Missense_Mutation_p.C905Y|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1270					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCCACCTGTGGATATCCC	0.542																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3808-3810)tGt>tAt		deleted in colorectal carcinoma							122.0	109.0	113.0					18																	51013239		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013239G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3809G>A	18.37:g.51013239G>A	ENSP00000389140:p.Cys1270Tyr					RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.C905Y	p.C1270Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4425	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1270						Missense_Mutation	SNP	ENST00000442544.2	37	c.3809G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663529	0.47572	.	.	ENSG00000187323	ENST00000442544	T	0.46451	0.87	5.48	5.48	0.80851	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	L	0.51422	1.61	0.58432	D	0.999997	D	0.69078	0.997	D	0.67725	0.953	T	0.59220	-0.7495	10	0.56958	D	0.05	-6.5822	18.1263	0.89586	0.0:0.0:1.0:0.0	.	1270	P43146	DCC_HUMAN	Y	1270	ENSP00000389140:C1270Y	ENSP00000389140:C1270Y	C	+	2	0	DCC	49267237	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.174000	0.89682	2.569000	0.86673	0.563000	0.77884	TGT		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		33	68	0	0	0	1	0	33	68				
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(15)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	1970	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		1237	118	1	0	0	1	0	1237	118				
DCAF8L2	347442	broad.mit.edu	37	X	27765735	27765735	+	Silent	SNP	C	C	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:27765735C>G	ENST00000451261.2	+	5	1122	c.723C>G	c.(721-723)acC>acG	p.T241T		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	241										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGCGTGGCACCCGGCTGGCCA	0.532																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(721-723)acC>acG		DDB1 and CUL4 associated factor 8-like 2							95.0	72.0	79.0					X																	27765735		692	1591	2283	SO:0001819	synonymous_variant	347442							g.chrX:27765735C>G		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.723C>G	X.37:g.27765735C>G							p.T241T	NM_001136533.1	NP_001130005.1					5	1122	+								B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	c.723C>G	CCDS59162.1																																																																																				0.532	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		9	3	0	0	0	1	0	9	3				
KIF20B	9585	broad.mit.edu	37	10	91486211	91486211	+	Silent	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:91486211A>G	ENST00000371728.3	+	16	2228	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	KIF20B_ENST00000416354.1_Silent_p.K721K|KIF20B_ENST00000260753.4_Silent_p.K681K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.K721K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	721					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAAATTAAAGCTGAATTAG	0.303																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(2161-2163)aaA>aaG		kinesin family member 20B							32.0	31.0	31.0					10																	91486211		2201	4293	6494	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91486211A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2163A>G	10.37:g.91486211A>G						KIF20B_ENST00000394289.2_Silent_p.K721K|KIF20B_ENST00000260753.4_Silent_p.K681K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.K721K	p.K721K			Q96Q89	KI20B_HUMAN			16	2235	+			721					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.2163A>G																																																																																					0.303	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		5	6	0	0	0	1	0	5	6				
GAS7	8522	broad.mit.edu	37	17	9829985	9829985	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:9829985G>A	ENST00000432992.2	-	10	1147	c.987C>T	c.(985-987)ctC>ctT	p.L329L	GAS7_ENST00000396115.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.L269L|GAS7_ENST00000542249.1_Silent_p.L265L|GAS7_ENST00000437099.2_Silent_p.L265L|GAS7_ENST00000580865.1_Silent_p.L189L|GAS7_ENST00000585266.1_Silent_p.L269L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Silent_p.L265L	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	329					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCGGCTGGCGAGCTGCTTGC	0.602			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(805-807)ctC>ctT		growth arrest-specific 7							58.0	55.0	56.0					17																	9829985		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9829985G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.987C>T	17.37:g.9829985G>A						GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.L265L|GAS7_ENST00000437099.2_Silent_p.L265L|GAS7_ENST00000542249.1_Silent_p.L274L|GAS7_ENST00000585266.1_Silent_p.L265L|GAS7_ENST00000580865.1_Silent_p.L189L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Silent_p.L281L|GAS7_ENST00000432992.2_Silent_p.L329L	p.L269L	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			10	1117	-			329			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.807C>T	CCDS11152.1																																																																																				0.602	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		19	36	0	0	0	1	0	19	36				
CACNA1G	8913	broad.mit.edu	37	17	48683269	48683269	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:48683269G>A	ENST00000359106.5	+	23	4307	c.4307G>A	c.(4306-4308)gGg>gAg	p.G1436E	CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1413E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1436E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1436E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1436					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCTTCAAAGGGAAGTTTTTC	0.567																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4237-4239)gGg>gAg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						29.0	31.0	30.0					17																	48683269		2054	4223	6277	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48683269G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4307G>A	17.37:g.48683269G>A	ENSP00000352011:p.Gly1436Glu					CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1436E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1413E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1436E	p.G1413E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		22	4610	+	Breast(11;6.7e-17)		1436					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4238G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	31	5.084284	0.94100	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99126	1.0851	10	0.87932	D	0	.	18.9564	0.92659	0.0:0.0:1.0:0.0	.	466;1413;1436;1436;1436;1436;1436;1436;1436;1436;1436;1436;1413;1436;1436;1436;1436;1436;1413;1436;1413;1413;1413;1413;1436;1413;1436	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	E	1413;1413;1436;1413;1413;1413;1436;1436;1413;1436;1436;1436;1436;1436;1436;1413;1436;1436;1436;1436;1413;1436;1436;1436;1436;1436;251	ENSP00000353990:G1413E;ENSP00000339302:G1413E;ENSP00000392390:G1436E;ENSP00000347078:G1413E;ENSP00000409759:G1413E;ENSP00000425522:G1413E;ENSP00000426261:G1436E;ENSP00000425451:G1436E;ENSP00000422407:G1413E;ENSP00000426814:G1436E;ENSP00000427238:G1436E;ENSP00000423112:G1436E;ENSP00000420918:G1436E;ENSP00000426172:G1436E;ENSP00000423045:G1436E;ENSP00000427173:G1413E;ENSP00000426098:G1436E;ENSP00000425698:G1436E;ENSP00000426232:G1436E;ENSP00000423317:G1436E;ENSP00000350979:G1413E;ENSP00000352011:G1436E;ENSP00000414388:G1436E;ENSP00000423155:G1436E;ENSP00000422268:G1436E;ENSP00000421518:G1436E;ENSP00000427697:G251E	ENSP00000339302:G1413E	G	+	2	0	CACNA1G	46038268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.479000	0.83701	0.655000	0.94253	GGG		0.567	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		8	28	0	0	0	1	0	8	28				
LRBA	987	broad.mit.edu	37	4	151236737	151236737	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:151236737G>T	ENST00000357115.3	-	52	7945	c.7702C>A	c.(7702-7704)Cca>Aca	p.P2568T	LRBA_ENST00000510413.1_Missense_Mutation_p.P2557T|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.P2557T|LRBA_ENST00000507224.1_Missense_Mutation_p.P2557T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2568						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCCACTGGCAGCTGGTAT	0.383																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7669-7671)Cca>Aca		LPS-responsive vesicle trafficking, beach and anchor containing							113.0	102.0	106.0					4																	151236737		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151236737G>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7702C>A	4.37:g.151236737G>T	ENSP00000349629:p.Pro2568Thr					LRBA_ENST00000510413.1_Missense_Mutation_p.P2557T|LRBA_ENST00000507224.1_Missense_Mutation_p.P2557T|LRBA_ENST00000357115.3_Missense_Mutation_p.P2568T|LRBA_ENST00000503716.1_5'UTR	p.P2557T			P50851	LRBA_HUMAN			51	8142	-	all_hematologic(180;0.151)		2568					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.7669C>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.60|18.60	3.658000|3.658000	0.67586|0.67586	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;0.14	5.6|5.6	5.6|5.6	0.85130|0.85130	.|WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.82545	.|0.5060	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;B;D	.|0.89917	.|1.0;0.995;0.216;0.997	.|D;D;B;D	.|0.83275	.|0.996;0.991;0.336;0.928	.|T	.|0.81006	.|-0.1128	.|10	.|0.42905	.|T	.|0.14	.|.	19.6104|19.6104	0.95604|0.95604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2568;2557;2557;463	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	X|T	1209|2557;2557;2568;2557	.|ENSP00000446299:P2557T;ENSP00000421552:P2557T;ENSP00000349629:P2568T;ENSP00000422180:P2557T	.|ENSP00000349629:P2568T	C|P	-|-	3|1	2|0	LRBA|LRBA	151456187|151456187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.434000|9.434000	0.97515|0.97515	2.636000|2.636000	0.89361|0.89361	0.557000|0.557000	0.71058|0.71058	TGC|CCA		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			12	29	1	0	3.27435e-08	1	3.3751e-08	12	29				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	56	0	0	0	1	0	4	56				
TBC1D22A	25771	broad.mit.edu	37	22	47189507	47189507	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:47189507G>A	ENST00000337137.4	+	3	395	c.229G>A	c.(229-231)Gac>Aac	p.D77N	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D58N|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D77N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D30N	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	77							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCTGGGGAGGACGACGATGA	0.637																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(229-231)Gac>Aac		TBC1 domain family, member 22A							66.0	59.0	61.0					22																	47189507		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47189507G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.229G>A	22.37:g.47189507G>A	ENSP00000336724:p.Asp77Asn					TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D77N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D58N	p.D77N	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	3	395	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	77					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.229G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288803	0.80914	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.52983	1.58;0.64;1.51;1.31;1.63	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.65975	2.015	0.58432	D	0.999999	D;D;P;D	0.63046	0.984;0.992;0.928;0.984	P;P;P;P	0.62885	0.811;0.908;0.742;0.811	T	0.66941	-0.5796	10	0.54805	T	0.06	-8.7774	16.7435	0.85466	0.0:0.0:1.0:0.0	.	77;58;77;77	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	N	77;30;77;58;30	ENSP00000336724:D77N;ENSP00000370383:D30N;ENSP00000384036:D77N;ENSP00000347932:D58N;ENSP00000385634:D30N	ENSP00000336724:D77N	D	+	1	0	TBC1D22A	45568171	1.000000	0.71417	0.063000	0.19743	0.339000	0.28857	8.844000	0.92147	2.591000	0.87537	0.609000	0.83330	GAC		0.637	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		17	28	0	0	0	1	0	17	28				
KEL	3792	broad.mit.edu	37	7	142658889	142658889	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:142658889C>A	ENST00000355265.2	-	2	548	c.74G>T	c.(73-75)aGc>aTc	p.S25I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	25					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACCTCTTGGCTCCAGAGAGT	0.537																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(73-75)aGc>aTc		Kell blood group, metallo-endopeptidase							288.0	247.0	261.0					7																	142658889		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658889C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.74G>T	7.37:g.142658889C>A	ENSP00000347409:p.Ser25Ile					KEL_ENST00000479768.2_5'UTR	p.S25I	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			2	548	-	Melanoma(164;0.059)		25					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.74G>T	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.559|8.559	0.877329|0.877329	0.17395|0.17395	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|D;T;D	.|0.85013	.|-1.65;0.84;-1.93	4.38|4.38	2.46|2.46	0.29980|0.29980	.|.	.|0.492894	.|0.19084	.|N	.|0.123152	T|T	0.70046|0.70046	0.3179|0.3179	N|N	0.19112|0.19112	0.55|0.55	0.24453|0.24453	N|N	0.994475|0.994475	.|P	.|0.40476	.|0.718	.|B	.|0.36030	.|0.216	T|T	0.64462|0.64462	-0.6402|-0.6402	5|10	.|0.66056	.|D	.|0.02	-0.0212|-0.0212	5.4025|5.4025	0.16303|0.16303	0.0:0.6607:0.2242:0.1151|0.0:0.6607:0.2242:0.1151	.|.	.|25	.|P23276	.|KELL_HUMAN	D|I	35|25;25;6	.|ENSP00000347409:S25I;ENSP00000419889:S25I;ENSP00000420011:S6I	.|ENSP00000347409:S25I	E|S	-|-	3|2	2|0	KEL|KEL	142369011|142369011	0.077000|0.077000	0.21312|0.21312	0.554000|0.554000	0.28268|0.28268	0.011000|0.011000	0.07611|0.07611	0.498000|0.498000	0.22530|0.22530	1.072000|1.072000	0.40860|0.40860	0.555000|0.555000	0.69702|0.69702	GAG|AGC		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		67	346	1	0	3.61678e-42	1	4.03874e-42	67	346				
DCHS2	54798	broad.mit.edu	37	4	155176691	155176691	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:155176691G>A	ENST00000357232.4	-	21	5555	c.5556C>T	c.(5554-5556)taC>taT	p.Y1852Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1852	Cadherin 16. {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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTGAGCTCGTAATCTAGAA	0.443																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5554-5556)taC>taT		dachsous cadherin-related 2							146.0	130.0	136.0					4																	155176691		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176691G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5556C>T	4.37:g.155176691G>A							p.Y1852Y	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5555	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1852			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5556C>T	CCDS3785.1																																																																																				0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		18	23	0	0	0	1	0	18	23				
HERC1	8925	broad.mit.edu	37	15	63970180	63970180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr15:63970180C>A	ENST00000443617.2	-	37	7021	c.6934G>T	c.(6934-6936)Gga>Tga	p.G2312*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2312					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCATCAACTCCTCCTATCACA	0.562																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6934-6936)Gga>Tga		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							119.0	126.0	124.0					15																	63970180		2123	4242	6365	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970180C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6934G>T	15.37:g.63970180C>A	ENSP00000390158:p.Gly2312*					RP11-317G6.1_ENST00000559303.2_RNA	p.G2312*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			37	7021	-			2312					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.6934G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	50	16.267947	0.99859	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.605	0.95577	0.0:1.0:0.0:0.0	.	.	.	.	X	2312	.	ENSP00000390158:G2312X	G	-	1	0	HERC1	61757233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.635000	0.89317	0.655000	0.94253	GGA		0.562	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		27	44	1	0	5.61819e-17	1	6.07127e-17	27	44				
LRFN2	57497	broad.mit.edu	37	6	40359746	40359746	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:40359746C>A	ENST00000338305.6	-	3	2848	c.2306G>T	c.(2305-2307)aGt>aTt	p.S769I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	769						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGGTCACTCTCCTCAAA	0.642																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2305-2307)aGt>aTt		leucine rich repeat and fibronectin type III domain containing 2							45.0	46.0	46.0					6																	40359746		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359746C>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2306G>T	6.37:g.40359746C>A	ENSP00000345985:p.Ser769Ile						p.S769I	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2848	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		769					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2306G>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022447	0.35701	.	.	ENSG00000156564	ENST00000338305	T	0.61742	0.08	5.27	2.23	0.28157	.	0.337411	0.38548	N	0.001652	T	0.23886	0.0578	L	0.32530	0.975	0.28191	N	0.927767	B	0.33379	0.41	B	0.31812	0.136	T	0.08994	-1.0695	10	0.87932	D	0	.	6.4703	0.22005	0.0:0.6328:0.1393:0.2279	.	769	Q9ULH4	LRFN2_HUMAN	I	769	ENSP00000345985:S769I	ENSP00000345985:S769I	S	-	2	0	LRFN2	40467724	0.837000	0.29446	1.000000	0.80357	0.980000	0.70556	0.295000	0.19065	1.195000	0.43115	0.555000	0.69702	AGT		0.642	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		17	35	1	0	3.51602e-12	1	3.68083e-12	17	35				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			4	9						4	9	---	---	---	---
C2orf69	205327	broad.mit.edu	37	2	200790016	200790028	+	Frame_Shift_Del	DEL	ATGTTATTAGTTA	ATGTTATTAGTTA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:200790016_200790028delATGTTATTAGTTA	ENST00000319974.5	+	2	748_760	c.565_577delATGTTATTAGTTA	c.(565-579)atgttattagttaatfs	p.MLLVN189fs	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	189						extracellular region (GO:0005576)		p.L191L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GCACCTTTATATGTTATTAGTTAATGCTTTTAA	0.338																																						ENST00000319974.5																			1	Substitution - coding silent(1)	p.L191L(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						c.(565-579)atfs		chromosome 2 open reading frame 69																																				SO:0001589	frameshift_variant	205327					extracellular region		g.chr2:200790016_200790028delATGTTATTAGTTA		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.565_577delATGTTATTAGTTA	2.37:g.200790016_200790028delATGTTATTAGTTA	ENSP00000312770:p.Met189fs					C2orf69_ENST00000491721.1_Intron	p.MLLVN189fs	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN			2	748_760	+			189					Q8NE30	Frame_Shift_Del	DEL	ENST00000319974.5	37	c.565_577delATGTTATTAGTTA	CCDS46482.1																																																																																				0.338	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		30	26						30	26	---	---	---	---
SETD9	133383	broad.mit.edu	37	5	56208853	56208854	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr5:56208853_56208854delAG	ENST00000285947.2	+	3	868_869	c.482_483delAG	c.(481-483)aagfs	p.K161fs	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Frame_Shift_Del_p.K161fs	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	161	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										GTATATCAGAAGTATGAGCCGA	0.351																																						ENST00000285947.2																			0											c.(481-483)afs		SET domain containing 9																																				SO:0001589	frameshift_variant	133383							g.chr5:56208853_56208854delAG	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.482_483delAG	5.37:g.56208853_56208854delAG	ENSP00000285947:p.Lys161fs					SETD9_ENST00000541720.1_Frame_Shift_Del_p.K161fs|SETD9_ENST00000475908.1_3'UTR	p.K161fs	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN			3	868_869	+			161					F5H713	Frame_Shift_Del	DEL	ENST00000285947.2	37	c.482_483delAG	CCDS3972.1																																																																																				0.351	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		28	78						28	78	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522327	32522328	+	RNA	INS	-	-	CCCAGTAG	rs144707340		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:32522327_32522328insCCCAGTAG	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ACAGGGCTACCCCCAGTGACCT	0.51																																						ENST00000411500.1																			0																																																			0							g.chr6:32522327_32522328insCCCAGTAG	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522327_32522328insCCCAGTAG								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.510	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		2	4						2	4	---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95569452	95569453	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:95569452_95569453delTG	ENST00000346299.5	-	14	1969_1970	c.1629_1630delCA	c.(1627-1632)tacatafs	p.I544fs	MTMR2_ENST00000352297.7_Frame_Shift_Del_p.I472fs|MTMR2_ENST00000393223.3_Frame_Shift_Del_p.I472fs|MTMR2_ENST00000409459.1_Frame_Shift_Del_p.I472fs	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	544	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y471Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGCTGTTTATGTAAGACCACA	0.431																																						ENST00000393223.3																			1	Substitution - coding silent(1)	p.Y471Y(1)	pancreas(1)	autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(1411-1416)tatafs		myotubularin related protein 2																																				SO:0001589	frameshift_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95569452_95569453delTG	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1629_1630delCA	11.37:g.95569452_95569453delTG	ENSP00000345752:p.Ile544fs					MTMR2_ENST00000346299.5_Frame_Shift_Del_p.YI543fs|MTMR2_ENST00000409459.1_Frame_Shift_Del_p.YI471fs|MTMR2_ENST00000352297.7_Frame_Shift_Del_p.YI471fs	p.YI471fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			16	2075_2076	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	543			Myotubularin phosphatase.		A6NN98|Q9UPS9	Frame_Shift_Del	DEL	ENST00000346299.5	37	c.1413_1414delCA	CCDS8305.1																																																																																				0.431	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		53	72						53	72	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014173	56014174	+	RNA	DEL	AG	AG	-	rs375963888|rs372958232		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:56014173_56014174delAG	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aaaaaaaaaaagaaTTGGCACA	0.446																																						ENST00000554558.1																			0																																																			0							g.chr14:56014173_56014174delAG			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014173_56014174delAG														0	364	-									RNA	DEL	ENST00000554558.1	37																																																																																						0.446	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		6	7						6	7	---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88695241	88695241	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr16:88695241delC	ENST00000301011.5	+	16	2745	c.2545delC	c.(2545-2547)cccfs	p.P849fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P873fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	849						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCAAGCGGCCCAACACATC	0.642																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(2545-2547)ccfs		zinc finger CCCH-type containing 18							89.0	88.0	88.0					16																	88695241		2198	4300	6498	SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88695241delC	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2545delC	16.37:g.88695241delC	ENSP00000301011:p.Pro849fs					ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P873fs	p.P849fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	16	2745	+			849					Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	c.2545delC	CCDS10967.1																																																																																				0.642	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		40	83						40	83	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5085347	5085348	+	Frame_Shift_Del	DEL	AA	AA	-	rs371446049		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:5085347_5085348delAA	ENST00000399604.4	-	1	2344_2345	c.2204_2205delTT	c.(2203-2205)cttfs	p.L735fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.L735fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACATTCTTCAAGTTTCTCTCC	0.426																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2203-2205)cfs		zinc finger protein 594																																				SO:0001589	frameshift_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085347_5085348delAA	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2204_2205delTT	17.37:g.5085347_5085348delAA	ENSP00000382513:p.Leu735fs					ZNF594_ENST00000575779.1_Frame_Shift_Del_p.L735fs	p.L735fs			Q96JF6	ZN594_HUMAN			1	2344_2345	-			735					Q6RFS0	Frame_Shift_Del	DEL	ENST00000399604.4	37	c.2204_2205delTT	CCDS42241.1																																																																																				0.426	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		93	156						93	156	---	---	---	---
STXBP4	252983	broad.mit.edu	37	17	53150436	53150439	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:53150436_53150439delAAGT	ENST00000376352.2	+	13	1394_1395	c.1187_1188delAAGT	c.(1186-1188)aaa>a	p.K396fs	STXBP4_ENST00000434978.2_Splice_Site_p.K374fs	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	396					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACCAAAATAAAGTAAGCAAAGCA	0.407																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.e13+1		syntaxin binding protein 4																																				SO:0001630	splice_region_variant	252983					cytoplasm	calcium ion binding	g.chr17:53150436_53150439delAAGT	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1188+1AAGT>-	17.37:g.53150436_53150439delAAGT						STXBP4_ENST00000434978.2_Splice_Site_p.374_splice	p.396_splice	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			13	1394_1395	+			396					Q8IVZ5	Splice_Site	DEL	ENST00000376352.2	37	c.1188_splice	CCDS11584.2																																																																																				0.407	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	Frame_Shift_Del	32	38						32	38	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		5	10						5	10	---	---	---	---
