#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
PPP1R26	9858	broad.mit.edu	37	9	138376461	138376461	+	Silent	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr9:138376461C>T	ENST00000356818.2	+	4	654	c.105C>T	c.(103-105)gaC>gaT	p.D35D	PPP1R26_ENST00000401470.3_Silent_p.D35D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.D35D|PPP1R26_ENST00000605286.1_Silent_p.D35D|PPP1R26_ENST00000604351.1_Silent_p.D35D	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	35					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CGGAGGCTGACGAGGGCGTGG	0.657																																						ENST00000356818.2																			0											c.(103-105)gaC>gaT		protein phosphatase 1, regulatory subunit 26							43.0	53.0	50.0					9																	138376461		2203	4299	6502	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138376461C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.105C>T	9.37:g.138376461C>T						PPP1R26_ENST00000605660.1_Silent_p.D35D|PPP1R26_ENST00000605286.1_Silent_p.D35D|PPP1R26_ENST00000604351.1_Silent_p.D35D|PPP1R26_ENST00000401470.3_Silent_p.D35D|PPP1R26_ENST00000602993.1_Intron	p.D35D	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	654	+			35					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.105C>T	CCDS6988.1																																																																																				0.657	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		29	56	0	0	0	1	0	29	56				
ABCC10	89845	broad.mit.edu	37	6	43415485	43415485	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:43415485C>T	ENST00000372530.4	+	18	3984	c.3769C>T	c.(3769-3771)Cca>Tca	p.P1257S	ABCC10_ENST00000244533.3_Missense_Mutation_p.P1229S	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1257	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCGTACCGGCCAGGGCTGCC	0.662																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3685-3687)Cca>Tca		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							142.0	146.0	145.0					6																	43415485		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415485C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3769C>T	6.37:g.43415485C>T	ENSP00000361608:p.Pro1257Ser					ABCC10_ENST00000372530.4_Missense_Mutation_p.P1257S	p.P1229S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4044	+	all_lung(25;0.00536)		1257					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3685C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230742	0.58777	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.89939	-2.59;-2.59	5.61	5.61	0.85477	ABC transporter-like (1);	0.362802	0.29814	N	0.011132	T	0.77785	0.4182	N	0.17594	0.5	0.44424	D	0.997345	P;B	0.36789	0.57;0.158	B;B	0.39258	0.295;0.066	T	0.82335	-0.0508	10	0.59425	D	0.04	-18.9539	16.1618	0.81727	0.0:0.8577:0.1423:0.0	.	1229;1257	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	1257;1229;8	ENSP00000361608:P1257S;ENSP00000244533:P1229S	ENSP00000244533:P1229S	P	+	1	0	ABCC10	43523463	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.228000	0.42981	2.641000	0.89580	0.591000	0.81541	CCA		0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		110	127	0	0	0	1	0	110	127				
TUBB8P7	197331	broad.mit.edu	37	16	90162132	90162132	+	RNA	SNP	C	C	T	rs41303771		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:90162132C>T	ENST00000564451.1	+	0	1485				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGGCTGAGCTCACCCAGCAGA	0.607																																						ENST00000567960.1																			0																																																			197331							g.chr16:90162132C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162132C>T						TUBB8P7_ENST00000564451.1_RNA								0	868	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	85	0	0	0	1	0	5	85				
ATP1B1	481	broad.mit.edu	37	1	169100776	169100776	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:169100776A>G	ENST00000367816.1	+	7	1424	c.895A>G	c.(895-897)Att>Gtt	p.I299V	ATP1B1_ENST00000499679.3_Missense_Mutation_p.I243V|ATP1B1_ENST00000367815.4_Missense_Mutation_p.I299V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.I291V			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	299	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TGATGTAAAAATTGAAGTTAA	0.368																																						ENST00000367816.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14						c.(895-897)Att>Gtt		ATPase, Na+/K+ transporting, beta 1 polypeptide							71.0	69.0	69.0					1																	169100776		2203	4300	6503	SO:0001583	missense	481				ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:169100776A>G	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.895A>G	1.37:g.169100776A>G	ENSP00000356790:p.Ile299Val					ATP1B1_ENST00000499679.3_Missense_Mutation_p.I243V|ATP1B1_ENST00000367815.3_Missense_Mutation_p.I299V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.I291V	p.I299V			P05026	AT1B1_HUMAN			7	1424	+	all_hematologic(923;0.208)		299					Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	37	c.895A>G	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	A	9.852	1.194005	0.22037	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.29655	1.57;1.57;1.59;1.56	5.46	4.29	0.51040	.	0.194361	0.53938	D	0.000041	T	0.09024	0.0223	N	0.25890	0.77	0.22081	N	0.999375	B	0.21688	0.059	B	0.21546	0.035	T	0.11155	-1.0599	9	0.32370	T	0.25	-14.7659	8.2346	0.31618	0.5875:0.0:0.0:0.4125	.	299	P05026	AT1B1_HUMAN	V	299;299;243;291	ENSP00000356790:I299V;ENSP00000356789:I299V;ENSP00000423450:I243V;ENSP00000356787:I291V	ENSP00000356787:I291V	I	+	1	0	ATP1B1	167367400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.138000	0.31491	2.076000	0.62316	0.528000	0.53228	ATT		0.368	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			5	101	0	0	0	1	0	5	101				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	41	0	0	0	1	0	3	41				
IL16	3603	broad.mit.edu	37	15	81575036	81575036	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr15:81575036T>A	ENST00000302987.4	+	8	1138	c.1138T>A	c.(1138-1140)Tct>Act	p.S380T	IL16_ENST00000394660.2_Missense_Mutation_p.S380T			Q14005	IL16_HUMAN	interleukin 16	380	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAATGCATCTCTGGCATTTT	0.607																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(1138-1140)Tct>Act		interleukin 16							163.0	172.0	169.0					15																	81575036		2144	4243	6387	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81575036T>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1138T>A	15.37:g.81575036T>A	ENSP00000302935:p.Ser380Thr					IL16_ENST00000302987.4_Missense_Mutation_p.S380T	p.S380T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			9	1498	+			380			Interaction with GRIN2A.|PDZ 2.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1138T>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616051	0.66672	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.16743	2.32;2.32	5.46	5.46	0.80206	PDZ/DHR/GLGF (3);	0.179052	0.27253	N	0.020213	T	0.23451	0.0567	N	0.16066	0.365	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.65684	0.867;0.937	T	0.09952	-1.0651	10	0.28530	T	0.3	.	15.5247	0.75894	0.0:0.0:0.0:1.0	.	380;380	Q14005;Q14005-2	IL16_HUMAN;.	T	380;380;212;380	ENSP00000378155:S380T;ENSP00000302935:S380T	ENSP00000302935:S380T	S	+	1	0	IL16	79362091	1.000000	0.71417	0.938000	0.37757	0.653000	0.38743	3.398000	0.52579	2.067000	0.61834	0.482000	0.46254	TCT		0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		5	202	0	0	0	1	0	5	202				
HCN1	348980	broad.mit.edu	37	5	45262355	45262355	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr5:45262355G>A	ENST00000303230.4	-	8	2398	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	781					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R781R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGACTTCCCGGGTCAGGTTG	0.637																																						ENST00000303230.4																			1	Substitution - coding silent(1)	p.R781R(1)	lung(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2341-2343)Cgg>Tgg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							73.0	69.0	71.0					5																	45262355		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262355G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2341C>T	5.37:g.45262355G>A	ENSP00000307342:p.Arg781Trp						p.R781W	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2398	-			781						Missense_Mutation	SNP	ENST00000303230.4	37	c.2341C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385393	0.61956	.	.	ENSG00000164588	ENST00000303230	T	0.76709	-1.04	5.02	1.49	0.22878	.	0.109401	0.38164	N	0.001782	T	0.79981	0.4540	L	0.27053	0.805	0.36489	D	0.868304	D	0.89917	1.0	D	0.79784	0.993	D	0.84234	0.0468	10	0.87932	D	0	.	14.7417	0.69461	0.0:0.0:0.508:0.492	.	781	O60741	HCN1_HUMAN	W	781	ENSP00000307342:R781W	ENSP00000307342:R781W	R	-	1	2	HCN1	45298112	0.292000	0.24362	0.658000	0.29665	0.980000	0.70556	2.305000	0.43664	0.552000	0.29026	0.655000	0.94253	CGG		0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		13	43	0	0	0	1	0	13	43				
ATRX	546	broad.mit.edu	37	X	76855943	76855943	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:76855943G>A	ENST00000373344.5	-	23	5871	c.5657C>T	c.(5656-5658)cCt>cTt	p.P1886L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P1848L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1886					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAAACACCAAGGATGAGTCCA	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5656-5658)cCt>cTt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						203.0	179.0	187.0					X																	76855943		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855943G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5657C>T	X.37:g.76855943G>A	ENSP00000362441:p.Pro1886Leu					ATRX_ENST00000395603.3_Missense_Mutation_p.P1848L|ATRX_ENST00000480283.1_5'UTR	p.P1886L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5871	-			1886					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5657C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735976	0.69189	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94184	-3.37;-3.37	5.26	5.26	0.73747	SNF2-related (1);	0.000000	0.64402	U	0.000001	D	0.98160	0.9392	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99851	1.1071	10	0.87932	D	0	-8.1757	17.9366	0.89014	0.0:0.0:1.0:0.0	.	1848;1886	P46100-4;P46100	.;ATRX_HUMAN	L	1886;1848	ENSP00000362441:P1886L;ENSP00000378967:P1848L	ENSP00000362441:P1886L	P	-	2	0	ATRX	76742599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.169000	0.68431	0.538000	0.68166	CCT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		175	302	0	0	0	1	0	175	302				
SVIL	6840	broad.mit.edu	37	10	29840161	29840161	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr10:29840161A>T	ENST00000355867.4	-	6	944	c.192T>A	c.(190-192)gaT>gaA	p.D64E	SVIL_ENST00000375400.3_Missense_Mutation_p.D64E|SVIL_ENST00000375398.2_Missense_Mutation_p.D64E	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	64	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTAGAGAAGAATCAGAAGTTT	0.458																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(190-192)gaT>gaA		supervillin							59.0	49.0	52.0					10																	29840161		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29840161A>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.192T>A	10.37:g.29840161A>T	ENSP00000348128:p.Asp64Glu					SVIL_ENST00000355867.4_Missense_Mutation_p.D64E|SVIL_ENST00000375400.3_Missense_Mutation_p.D64E	p.D64E			O95425	SVIL_HUMAN			8	641	-		Breast(68;0.103)	64			Interaction with MYLK (By similarity).		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.192T>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454035	0.43634	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.41065	1.01;1.01;1.01	5.41	-1.99	0.07457	.	0.904331	0.09632	N	0.776148	T	0.26557	0.0649	L	0.47716	1.5	0.80722	D	1	B;B	0.31274	0.003;0.317	B;B	0.26517	0.015;0.07	T	0.24440	-1.0160	9	.	.	.	-8.3486	1.8974	0.03261	0.4488:0.2275:0.2176:0.1061	.	64;64	O95425-2;O95425	.;SVIL_HUMAN	E	64	ENSP00000364549:D64E;ENSP00000364547:D64E;ENSP00000348128:D64E	.	D	-	3	2	SVIL	29880167	0.943000	0.32029	0.440000	0.26846	0.862000	0.49288	0.080000	0.14802	-0.230000	0.09840	0.482000	0.46254	GAT		0.458	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			17	39	0	0	0	1	0	17	39				
PCDHB7	56129	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr5:140553676C>T	ENST00000231137.3	+	1	1434	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	420	Cadherin 4. {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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1258-1260)acC>acT									142.0	128.0	133.0					5																	140553676		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553676C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1260C>T	5.37:g.140553676C>T							p.T420T	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1434	+			420			Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1260C>T	CCDS4249.1																																																																																				0.512	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	108	0	0	0	1	0	4	108				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	28	0	0	0	1	0	4	28				
TBC1D32	221322	broad.mit.edu	37	6	121491568	121491568	+	Intron	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:121491568C>T	ENST00000398212.2	-	23	2620				TBC1D32_ENST00000275159.6_Silent_p.E892E|TBC1D32_ENST00000398197.2_Intron	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32						cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TCTCAGAAATCTCCAAGATAT	0.353																																						ENST00000275159.6																			0											c.(2674-2676)gaG>gaA		TBC1 domain family, member 32							48.0	49.0	48.0					6																	121491568		876	1991	2867	SO:0001627	intron_variant	221322							g.chr6:121491568C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2571-9366G>A	6.37:g.121491568C>T						TBC1D32_ENST00000398212.2_Intron|TBC1D32_ENST00000398197.2_Intron	p.E892E							23	2675	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.2676G>A	CCDS43501.1																																																																																				0.353	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		14	44	0	0	0	1	0	14	44				
ZAN	7455	broad.mit.edu	37	7	100391825	100391825	+	RNA	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:100391825C>T	ENST00000348028.3	+	0	8016				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCCCTTCAGCTGCAGAGCGG	0.637																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							76.0	84.0	81.0					7																	100391825		2042	4201	6243			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100391825C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391825C>T						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	8280	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		33	36	0	0	0	1	0	33	36				
GPR132	29933	broad.mit.edu	37	14	105517581	105517581	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr14:105517581G>A	ENST00000329797.3	-	4	1804	c.893C>T	c.(892-894)aCg>aTg	p.T298M	GPR132_ENST00000392585.2_Missense_Mutation_p.T289M|GPR132_ENST00000539291.2_Missense_Mutation_p.T298M|GPR132_ENST00000546679.1_5'Flank	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	298					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCCGTTCACCGTGGACAGGCA	0.562																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(892-894)aCg>aTg		G protein-coupled receptor 132							111.0	91.0	98.0					14																	105517581		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517581G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.893C>T	14.37:g.105517581G>A	ENSP00000328818:p.Thr298Met					GPR132_ENST00000392585.2_Missense_Mutation_p.T289M|GPR132_ENST00000539291.2_Missense_Mutation_p.T298M	p.T298M	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1804	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	298					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.893C>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273952	0.59649	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.71341	-0.56;-0.56;-0.56	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.122079	0.53938	D	0.000056	T	0.82208	0.4987	M	0.64676	1.99	0.45502	D	0.998464	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83726	0.0195	10	0.56958	D	0.05	.	16.9482	0.86236	0.0:0.0:1.0:0.0	.	289;298	B4E144;Q9UNW8	.;GP132_HUMAN	M	298;289;298	ENSP00000328818:T298M;ENSP00000376364:T289M;ENSP00000438094:T298M	ENSP00000328818:T298M	T	-	2	0	GPR132	104588626	1.000000	0.71417	0.533000	0.28001	0.507000	0.33981	5.178000	0.65037	2.300000	0.77407	0.563000	0.77884	ACG		0.562	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		13	41	0	0	0	1	0	13	41				
PREX2	80243	broad.mit.edu	37	8	68965465	68965465	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:68965465A>C	ENST00000288368.4	+	9	1354	c.1077A>C	c.(1075-1077)gaA>gaC	p.E359D	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	359	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTGAAAGAAAGAGAACGGC	0.378																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1075-1077)gaA>gaC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							115.0	111.0	112.0					8																	68965465		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68965465A>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1077A>C	8.37:g.68965465A>C	ENSP00000288368:p.Glu359Asp					PREX2_ENST00000529398.1_3'UTR	p.E359D	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1354	+			359			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1077A>C	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212010	0.79240	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.88586	-2.4	5.74	3.41	0.39046	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.055062	0.64402	D	0.000001	D	0.93504	0.7927	M	0.85197	2.74	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.997	D	0.92611	0.6099	10	0.87932	D	0	.	7.0984	0.25323	0.695:0.0:0.305:0.0	.	359;359;359	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	D	359	ENSP00000288368:E359D	ENSP00000288368:E359D	E	+	3	2	PREX2	69128019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.288000	0.43514	1.009000	0.39289	0.533000	0.62120	GAA		0.378	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		17	116	0	0	0	1	0	17	116				
RBM12B	389677	broad.mit.edu	37	8	94747087	94747087	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:94747087T>C	ENST00000399300.2	-	3	1765	c.1552A>G	c.(1552-1554)Ata>Gta	p.I518V	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.I518V|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	518							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTGAGTATATTGGTGGGTCT	0.443																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1552-1554)Ata>Gta		RNA binding motif protein 12B							109.0	104.0	105.0					8																	94747087		1851	4100	5951	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747087T>C		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1552A>G	8.37:g.94747087T>C	ENSP00000382239:p.Ile518Val					RBM12B_ENST00000517700.1_Missense_Mutation_p.I518V|RBM12B_ENST00000520961.1_Intron	p.I518V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1765	-	Breast(36;4.14e-07)		518					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1552A>G	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.661918	0.00006	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.05925	3.37;3.37	5.64	-7.75	0.01236	.	1.977070	0.02096	N	0.053534	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40701	-0.9549	10	0.06365	T	0.9	-0.0157	1.6073	0.02687	0.1634:0.284:0.1624:0.3902	.	518	Q8IXT5	RB12B_HUMAN	V	518	ENSP00000382239:I518V;ENSP00000427729:I518V	ENSP00000382239:I518V	I	-	1	0	RBM12B	94816263	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.636000	0.05465	-1.736000	0.01352	-2.299000	0.00261	ATA		0.443	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		38	120	0	0	0	1	0	38	120				
KCNA6	3742	broad.mit.edu	37	12	4919742	4919742	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr12:4919742G>A	ENST00000280684.3	+	1	1401	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	KCNA6_ENST00000433855.1_Missense_Mutation_p.V179I|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	179					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.V179I(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CATCGCCATCGTCTCCGTGTT	0.592										HNSCC(72;0.22)																												ENST00000433855.1																			1	Substitution - Missense(1)	p.V179I(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(535-537)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 6							67.0	59.0	62.0					12																	4919742		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919742G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.535G>A	12.37:g.4919742G>A	ENSP00000280684:p.Val179Ile	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I	p.V179I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1401	+			179						Missense_Mutation	SNP	ENST00000280684.3	37	c.535G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446111	0.43429	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76060	-0.99;-0.99	4.99	4.99	0.66335	.	0.127069	0.52532	D	0.000077	T	0.60560	0.2278	N	0.25647	0.755	0.58432	D	0.999995	B	0.29188	0.236	B	0.19148	0.024	T	0.57670	-0.7771	10	0.16896	T	0.51	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	179	P17658	KCNA6_HUMAN	I	179	ENSP00000408321:V179I;ENSP00000280684:V179I	ENSP00000280684:V179I	V	+	1	0	KCNA6	4790003	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.798000	0.85924	2.595000	0.87683	0.563000	0.77884	GTC		0.592	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		27	43	0	0	0	1	0	27	43				
L3MBTL1	26013	broad.mit.edu	37	20	42162707	42162707	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr20:42162707G>A	ENST00000427442.2	+	14	1666	c.1507G>A	c.(1507-1509)Gct>Act	p.A503T	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A435T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A503T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	435					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGGGGCCTCTGCTGTCCCCAC	0.572																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1303-1305)Gct>Act		l(3)mbt-like 1 (Drosophila)							77.0	81.0	80.0					20																	42162707		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42162707G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1507G>A	20.37:g.42162707G>A	ENSP00000402107:p.Ala503Thr					L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A435T|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.A503T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A503T	p.A435T			Q9Y468	LMBL1_HUMAN			11	1435	+			435					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1303G>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947477	0.92593	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.92	4.97	0.65823	.	0.050077	0.85682	D	0.000000	T	0.61912	0.2385	M	0.61703	1.905	0.58432	D	0.999998	D;P;D;D	0.89917	0.963;0.927;1.0;0.998	P;P;D;D	0.72982	0.664;0.539;0.979;0.927	T	0.65421	-0.6172	10	0.62326	D	0.03	.	15.8684	0.79084	0.0:0.1445:0.8555:0.0	.	503;87;435;435	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	T	503;503;435;435;435;221;87	ENSP00000402107:A503T;ENSP00000398516:A503T;ENSP00000362227:A435T;ENSP00000403316:A435T;ENSP00000362226:A435T;ENSP00000410139:A221T	ENSP00000362225:A87T	A	+	1	0	L3MBTL1	41596121	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.706000	0.84615	1.495000	0.48549	0.655000	0.94253	GCT		0.572	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		4	92	0	0	0	1	0	4	92				
LCA5L	150082	broad.mit.edu	37	21	40781999	40781999	+	Silent	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr21:40781999G>A	ENST00000358268.2	-	9	1716	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	LCA5L_ENST00000288350.3_Silent_p.I396I|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000380671.2_Silent_p.I396I			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	396										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTATGATCGATGTTTCCTG	0.308																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(1186-1188)atC>atT		Leber congenital amaurosis 5-like							162.0	147.0	152.0					21																	40781999		2201	4299	6500	SO:0001819	synonymous_variant	150082							g.chr21:40781999G>A	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1188C>T	21.37:g.40781999G>A						LCA5L_ENST00000380671.2_Silent_p.I396I|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Silent_p.I396I|WRB_ENST00000541890.1_Intron	p.I396I			O95447	LCA5L_HUMAN			9	1716	-		Prostate(19;1.2e-06)	396					D3DSI0|Q3ZCT0	Silent	SNP	ENST00000358268.2	37	c.1188C>T	CCDS13665.1																																																																																				0.308	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		33	64	0	0	0	1	0	33	64				
CLVS1	157807	broad.mit.edu	37	8	62370926	62370926	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:62370926C>T	ENST00000519846.1	+	6	1274	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	268	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.P268S(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGAATTTTTGCCCTCTGAATT	0.413																																						ENST00000519846.1																			1	Substitution - Missense(1)	p.P268S(1)	prostate(1)	endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(802-804)Ccc>Tcc		clavesin 1							128.0	120.0	123.0					8																	62370926		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62370926C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.802C>T	8.37:g.62370926C>T	ENSP00000428402:p.Pro268Ser					CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S|CLVS1_ENST00000518592.1_5'UTR	p.P268S			Q8IUQ0	CLVS1_HUMAN			6	1274	+			268			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.802C>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182528	0.94885	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.90844	-2.74;-2.74	5.43	5.43	0.79202	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.112886	0.64402	D	0.000008	D	0.96259	0.8780	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96452	0.9335	10	0.87932	D	0	-8.6114	19.4372	0.94801	0.0:1.0:0.0:0.0	.	268	Q8IUQ0	CLVS1_HUMAN	S	268	ENSP00000428402:P268S;ENSP00000325506:P268S	ENSP00000325506:P268S	P	+	1	0	CLVS1	62533480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.236000	0.78154	2.827000	0.97445	0.650000	0.86243	CCC		0.413	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		4	141	0	0	0	1	0	4	141				
POLD2	5425	broad.mit.edu	37	7	44154459	44154459	+	Silent	SNP	C	C	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:44154459C>G	ENST00000406581.2	-	12	1984	c.1335G>C	c.(1333-1335)ctG>ctC	p.L445L	POLD2_ENST00000223361.3_Silent_p.L431L|POLD2_ENST00000452185.1_Silent_p.L445L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	445					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCTGGCAGGCCAGGCTGCGCA	0.612																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1333-1335)ctG>ctC		polymerase (DNA directed), delta 2, accessory subunit							30.0	31.0	30.0					7																	44154459		2203	4300	6503	SO:0001819	synonymous_variant	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154459C>G		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1335G>C	7.37:g.44154459C>G						POLD2_ENST00000452185.1_Silent_p.L445L|POLD2_ENST00000223361.3_Silent_p.L431L	p.L445L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			12	1984	-			445					A4D2J4|B2R5S4	Silent	SNP	ENST00000406581.2	37	c.1335G>C	CCDS5477.1																																																																																				0.612	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		10	18	0	0	0	1	0	10	18				
CD1B	910	broad.mit.edu	37	1	158300810	158300810	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:158300810G>C	ENST00000368168.3	-	2	211	c.104C>G	c.(103-105)tCc>tGc	p.S35C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	35					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTGGTAAAGGACGAGGTCTG	0.493																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(103-105)tCc>tGc		CD1b molecule							237.0	227.0	231.0					1																	158300810		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300810G>C	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.104C>G	1.37:g.158300810G>C	ENSP00000357150:p.Ser35Cys						p.S35C	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			2	211	-	all_hematologic(112;0.0378)		35					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.104C>G	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305750	0.23736	.	.	ENSG00000158485	ENST00000368168	T	0.08282	3.11	4.15	2.24	0.28232	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.577232	0.14629	N	0.307928	T	0.13157	0.0319	M	0.84326	2.69	0.09310	N	1	D;P	0.89917	1.0;0.921	D;P	0.71870	0.975;0.448	T	0.07290	-1.0780	10	0.66056	D	0.02	-8.5429	4.8925	0.13733	0.1104:0.0:0.6785:0.211	.	35;35	B4E0D2;P29016	.;CD1B_HUMAN	C	35	ENSP00000357150:S35C	ENSP00000357150:S35C	S	-	2	0	CD1B	156567434	0.024000	0.19004	0.015000	0.15790	0.050000	0.14768	2.128000	0.42045	0.501000	0.28013	0.655000	0.94253	TCC		0.493	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		15	355	0	0	0	1	0	15	355				
LYST	1130	broad.mit.edu	37	1	235940409	235940409	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:235940409A>G	ENST00000389794.3	-	17	5588	c.5414T>C	c.(5413-5415)cTg>cCg	p.L1805P	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L1805P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1805					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATTTCGTGCAGAATGCCTTG	0.353																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5413-5415)cTg>cCg		lysosomal trafficking regulator							108.0	113.0	112.0					1																	235940409		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235940409A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5414T>C	1.37:g.235940409A>G	ENSP00000374444:p.Leu1805Pro					LYST_ENST00000389793.2_Missense_Mutation_p.L1805P|LYST_ENST00000536965.1_3'UTR	p.L1805P			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		17	5588	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1805					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5414T>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802638	0.70682	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65732	-0.17;-0.17	5.52	4.37	0.52481	.	0.215062	0.41500	D	0.000880	T	0.73908	0.3647	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	T	0.76075	-0.3092	10	0.87932	D	0	.	12.0206	0.53342	0.8704:0.0:0.0:0.1296	.	1805	Q99698	LYST_HUMAN	P	1805	ENSP00000374444:L1805P;ENSP00000374443:L1805P	ENSP00000374443:L1805P	L	-	2	0	LYST	234007032	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	8.803000	0.91915	0.990000	0.38787	0.528000	0.53228	CTG		0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			8	116	0	0	0	1	0	8	116				
G6PC3	92579	broad.mit.edu	37	17	42153351	42153351	+	Silent	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:42153351C>T	ENST00000269097.4	+	6	1212	c.981C>T	c.(979-981)ctC>ctT	p.L327L		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	327					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCTGGCCCTCGTGCCCTGGG	0.592																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(979-981)ctC>ctT		glucose 6 phosphatase, catalytic, 3							128.0	118.0	121.0					17																	42153351		2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153351C>T	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.981C>T	17.37:g.42153351C>T							p.L327L	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1212	+		Breast(137;0.00637)|Prostate(33;0.0313)	327					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.981C>T	CCDS11476.1																																																																																				0.592	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		16	152	0	0	0	1	0	16	152				
NOMO2	283820	broad.mit.edu	37	16	18532210	18532210	+	Missense_Mutation	SNP	C	C	T	rs558016706	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:18532210C>T	ENST00000381474.3	-	19	2215	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	NOMO2_ENST00000543392.1_Missense_Mutation_p.R550H|NOMO2_ENST00000330537.6_Missense_Mutation_p.R717H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	717						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTCCTGCCTGCGGGCCTCGAT	0.572													.|||	2	0.000399361	0.0	0.0	5008	,	,		22713	0.0		0.002	False		,,,				2504	0.0					ENST00000330537.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						c.(2149-2151)cGc>cAc		NODAL modulator 2																																				SO:0001583	missense	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18532210C>T	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2150G>A	16.37:g.18532210C>T	ENSP00000370883:p.Arg717His					NOMO2_ENST00000381474.3_Missense_Mutation_p.R717H|NOMO2_ENST00000543392.1_Missense_Mutation_p.R550H	p.R717H	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN			19	2320	-			717					Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	c.2150G>A	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.431639	0.83776	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04317	3.67;3.65;3.65	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.72075	0.976;0.813	T	0.52480	-0.8570	10	0.41790	T	0.15	-17.7164	14.2293	0.65879	0.0:1.0:0.0:0.0	.	550;717	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	717;717;550	ENSP00000331851:R717H;ENSP00000370883:R717H;ENSP00000439970:R550H	ENSP00000331851:R717H	R	-	2	0	NOMO2	18439711	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.873000	0.75541	1.845000	0.53610	0.455000	0.32223	CGC		0.572	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		4	147	0	0	0	1	0	4	147				
SPATA13	221178	broad.mit.edu	37	13	24858319	24858319	+	Silent	SNP	C	C	T	rs367888214		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr13:24858319C>T	ENST00000382095.4	+	4	743	c.336C>T	c.(334-336)aaC>aaT	p.N112N	SPATA13_ENST00000382108.3_Silent_p.N737N|RP11-307N16.6_ENST00000382141.4_Silent_p.N615N|SPATA13_ENST00000343003.6_Silent_p.N56N|SPATA13_ENST00000424834.2_Silent_p.N737N|SPATA13_ENST00000399949.2_Silent_p.N34N|SPATA13_ENST00000409126.1_Silent_p.N34N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	112	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493													c|||	1	0.000199681	0.0	0.0	5008	,	,		18956	0.0		0.0	False		,,,				2504	0.001					ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2209-2211)aaC>aaT		spermatogenesis associated 13		T	,	1,4405	2.1+/-5.4	0,1,2202	78.0	67.0	70.0		2211,336	-10.0	0.0	13		70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPATA13	NM_001166271.1,NM_153023.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	737/1278,112/653	24858319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24858319C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.336C>T	13.37:g.24858319C>T						SPATA13_ENST00000399949.2_Silent_p.N34N|SPATA13_ENST00000382108.3_Silent_p.N737N|SPATA13_ENST00000382095.4_Silent_p.N112N|SPATA13_ENST00000343003.6_Silent_p.N56N|SPATA13_ENST00000409126.1_Silent_p.N34N	p.N737N			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	7	2684	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	112					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.2211C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	c	0.206	-1.040986	0.02013	2.27E-4	0.0	ENSG00000182957	ENST00000424834	.	.	.	5.65	-9.98	0.00438	.	.	.	.	.	T	0.69735	0.3144	.	.	.	0.41835	D	0.990096	.	.	.	.	.	.	T	0.78071	-0.2347	4	.	.	.	.	20.865	0.99795	0.0:0.2172:0.0:0.7828	.	.	.	.	W	775	.	.	R	+	1	2	SPATA13	23756319	0.018000	0.18449	0.028000	0.17463	0.116000	0.19942	-1.365000	0.02587	-2.529000	0.00492	-2.133000	0.00342	CGG		0.493	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		4	54	0	0	0	1	0	4	54				
RPGR	6103	broad.mit.edu	37	X	38156540	38156540	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:38156540G>T	ENST00000339363.3	-	11	1578	c.1411C>A	c.(1411-1413)Cca>Aca	p.P471T	RPGR_ENST00000378505.2_Missense_Mutation_p.P471T|RPGR_ENST00000342811.3_Missense_Mutation_p.P471T|RPGR_ENST00000318842.7_Missense_Mutation_p.P471T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.P409T|RPGR_ENST00000338898.3_Missense_Mutation_p.P471T			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	471					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATGTTACCTGGTTCCTCTGGC	0.393																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1411-1413)Cca>Aca		retinitis pigmentosa GTPase regulator							108.0	100.0	102.0					X																	38156540		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38156540G>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1411C>A	X.37:g.38156540G>T	ENSP00000343671:p.Pro471Thr					RPGR_ENST00000339363.3_Missense_Mutation_p.P471T|RPGR_ENST00000318842.7_Missense_Mutation_p.P471T|RPGR_ENST00000342811.3_Missense_Mutation_p.P471T|RPGR_ENST00000338898.3_Missense_Mutation_p.P471T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.P409T	p.P471T	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			11	1587	-			471					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1411C>A		.	.	.	.	.	.	.	.	.	.	G	10.26	1.302512	0.23736	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.50001	1.27;0.89;0.76;1.35;1.34;1.28	4.75	1.16	0.20824	.	0.686688	0.13173	N	0.408136	T	0.49779	0.1577	M	0.69823	2.125	0.09310	N	1	P;D	0.62365	0.882;0.991	P;P	0.57101	0.449;0.813	T	0.44544	-0.9321	10	0.07482	T	0.82	.	3.2833	0.06922	0.3111:0.2081:0.4808:0.0	.	471;471	E9PE28;Q92834-2	.;.	T	471;409;471;471;471;471	ENSP00000343671:P471T;ENSP00000308783:P409T;ENSP00000340208:P471T;ENSP00000322219:P471T;ENSP00000339531:P471T;ENSP00000367766:P471T	ENSP00000308783:P409T	P	-	1	0	RPGR	38041484	0.683000	0.27633	0.290000	0.24890	0.047000	0.14425	0.584000	0.23864	0.348000	0.23949	0.596000	0.82720	CCA		0.393	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		7	97	1	0	0.0381472	1	0.0389949	7	97				
MAGEC1	9947	broad.mit.edu	37	X	140996020	140996020	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:140996020G>T	ENST00000285879.4	+	4	3116	c.2830G>T	c.(2830-2832)Ggc>Tgc	p.G944C	MAGEC1_ENST00000406005.2_Missense_Mutation_p.G11C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	944	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTACACGGGCTACTTTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2830-2832)Ggc>Tgc		melanoma antigen family C, 1							146.0	135.0	139.0					X																	140996020		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996020G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2830G>T	X.37:g.140996020G>T	ENSP00000285879:p.Gly944Cys	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.G11C	p.G944C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3116	+	Acute lymphoblastic leukemia(192;6.56e-05)		944			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2830G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.078	0.569720	0.13560	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04809	3.55;3.55	0.837	-0.194	0.13240	.	.	.	.	.	T	0.11580	0.0282	L	0.48642	1.525	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.17561	-1.0365	8	0.72032	D	0.01	.	.	.	.	.	944	O60732	MAGC1_HUMAN	C	944;11	ENSP00000285879:G944C;ENSP00000385500:G11C	ENSP00000285879:G944C	G	+	1	0	MAGEC1	140823686	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-0.185000	0.09684	-0.128000	0.11641	0.279000	0.19357	GGC		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		116	161	1	0	9.53958e-58	1	1.07029e-57	116	161				
COL24A1	255631	broad.mit.edu	37	1	86210382	86210382	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:86210382C>T	ENST00000370571.2	-	57	5005	c.4639G>A	c.(4639-4641)Gat>Aat	p.D1547N	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1526N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1547	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTAAGTAAATCTTTGCAGATT	0.368																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4639-4641)Gat>Aat		collagen, type XXIV, alpha 1							166.0	154.0	157.0					1																	86210382		1863	4098	5961	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210382C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4639G>A	1.37:g.86210382C>T	ENSP00000359603:p.Asp1547Asn					COL24A1_ENST00000436319.1_Missense_Mutation_p.D1526N	p.D1547N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	5005	-			1547			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4639G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209081	0.79240	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.79454	-1.27;-1.27	5.29	5.29	0.74685	Fibrillar collagen, C-terminal (3);	0.000000	0.32488	N	0.006022	D	0.90717	0.7087	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92466	0.5981	10	0.72032	D	0.01	.	19.2988	0.94134	0.0:1.0:0.0:0.0	.	1547;1526	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	N	1547;1526	ENSP00000359603:D1547N;ENSP00000392531:D1526N	ENSP00000359603:D1547N	D	-	1	0	COL24A1	85982970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.635000	0.89317	0.563000	0.77884	GAT		0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		58	39	0	0	0	1	0	58	39				
CLCN1	1180	broad.mit.edu	37	7	143018823	143018823	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:143018823A>T	ENST00000343257.2	+	5	665	c.578A>T	c.(577-579)gAa>gTa	p.E193V	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	193					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGAATCCCCGAAATGAAGACA	0.498																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(577-579)gAa>gTa		chloride channel, voltage-sensitive 1							94.0	82.0	86.0					7																	143018823		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143018823A>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.578A>T	7.37:g.143018823A>T	ENSP00000339867:p.Glu193Val					CLCN1_ENST00000495612.1_3'UTR	p.E193V	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			5	665	+	Melanoma(164;0.205)		193					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.578A>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.478175	0.84747	.	.	ENSG00000188037	ENST00000343257	D	0.94537	-3.45	5.02	5.02	0.67125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97598	0.9213	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98574	1.0647	10	0.87932	D	0	.	14.808	0.69971	1.0:0.0:0.0:0.0	.	193	P35523	CLCN1_HUMAN	V	193	ENSP00000339867:E193V	ENSP00000339867:E193V	E	+	2	0	CLCN1	142728945	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	9.339000	0.96797	1.911000	0.55334	0.454000	0.30748	GAA		0.498	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		50	87	0	0	0	1	0	50	87				
KRT74	121391	broad.mit.edu	37	12	52967343	52967343	+	Silent	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr12:52967343G>A	ENST00000305620.2	-	1	266	c.219C>T	c.(217-219)taC>taT	p.Y73Y	KRT74_ENST00000549343.1_Silent_p.Y73Y	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	73	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCTGAAGCCGTAACCTCCAG	0.617																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(217-219)taC>taT		keratin 74							41.0	48.0	46.0					12																	52967343		2203	4300	6503	SO:0001819	synonymous_variant	121391					keratin filament	structural molecule activity	g.chr12:52967343G>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.219C>T	12.37:g.52967343G>A						KRT74_ENST00000305620.2_Silent_p.Y73Y	p.Y73Y			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	257	-			73			Gly-rich.|Head.		B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	c.219C>T	CCDS8832.1																																																																																				0.617	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		17	43	0	0	0	1	0	17	43				
OR2W5	441932	broad.mit.edu	37	1	247654533	247654533	+	RNA	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:247654533G>T	ENST00000522351.1	+	0	164							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGATCTTCTGCATCCTGACC	0.498																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															156.0	139.0	145.0					1																	247654533		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654533G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654533G>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	164	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.498	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		19	53	1	0	1.00905e-13	1	1.10515e-13	19	53				
RBP3	5949	broad.mit.edu	37	10	48390173	48390173	+	Silent	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr10:48390173G>T	ENST00000224600.4	-	1	818	c.705C>A	c.(703-705)acC>acA	p.T235T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	235	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACGCCCCTGGTCTGGCTGC	0.667																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(703-705)acC>acA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						75.0	66.0	69.0					10																	48390173		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390173G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.705C>A	10.37:g.48390173G>T							p.T235T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	818	-			235			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.705C>A	CCDS7218.1																																																																																				0.667	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	49	1	0	0.217242	1	0.217242	6	49				
CD300LB	124599	broad.mit.edu	37	17	72522084	72522084	+	Missense_Mutation	SNP	C	C	T	rs548897430		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:72522084C>T	ENST00000392621.1	-	2	288	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	CD300LB_ENST00000314401.3_Missense_Mutation_p.C95Y	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	58	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GAGGATCTTGCATGTATCCCA	0.542																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(283-285)tGc>tAc		CD300 molecule-like family member b							223.0	201.0	208.0					17																	72522084		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522084C>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.284G>A	17.37:g.72522084C>T	ENSP00000376397:p.Cys95Tyr					CD300LB_ENST00000314401.3_Missense_Mutation_p.C95Y	p.C95Y	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	288	-			58			Ig-like V-type.		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.284G>A	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481994	0.26598	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.04317	3.65	5.05	5.05	0.67936	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	T	0.35941	0.0949	H	0.97758	4.07	0.38017	D	0.934721	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61347	-0.7081	10	0.87932	D	0	-2.4659	16.2484	0.82467	0.0:1.0:0.0:0.0	.	95;58	B4DQ71;A8K4G0	.;CLM7_HUMAN	Y	58;95	ENSP00000317337:C95Y	ENSP00000317337:C95Y	C	-	2	0	CD300LB	70033679	0.979000	0.34478	0.247000	0.24249	0.003000	0.03518	4.458000	0.60095	2.495000	0.84180	0.563000	0.77884	TGC		0.542	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		25	198	0	0	0	1	0	25	198				
DNAH3	55567	broad.mit.edu	37	16	20952798	20952798	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:20952798A>G	ENST00000261383.3	-	59	11578	c.11579T>C	c.(11578-11580)gTc>gCc	p.V3860A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3860					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAACTTCATGACCTCTTCCAG	0.478																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(11578-11580)gTc>gCc		dynein, axonemal, heavy chain 3							205.0	192.0	197.0					16																	20952798		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952798A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11579T>C	16.37:g.20952798A>G	ENSP00000261383:p.Val3860Ala					DNAH3_ENST00000415178.1_3'UTR	p.V3860A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11578	-			3860					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11579T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	3.764	-0.048959	0.07407	.	.	ENSG00000158486	ENST00000261383	T	0.08458	3.09	5.79	5.79	0.91817	Dynein heavy chain (1);	0.437310	0.21555	N	0.072669	T	0.11324	0.0276	N	0.25332	0.735	0.58432	D	0.999996	P	0.46952	0.887	P	0.51516	0.672	T	0.28933	-1.0028	10	0.10377	T	0.69	.	16.1303	0.81428	1.0:0.0:0.0:0.0	.	3860	Q8TD57	DYH3_HUMAN	A	3860	ENSP00000261383:V3860A	ENSP00000261383:V3860A	V	-	2	0	DNAH3	20860299	0.287000	0.24315	0.072000	0.20136	0.957000	0.61999	4.310000	0.59141	2.218000	0.71995	0.533000	0.62120	GTC		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		96	147	0	0	0	1	0	96	147				
C1orf177	163747	broad.mit.edu	37	1	55279581	55279581	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:55279581C>T	ENST00000371273.3	+	7	872	c.857C>T	c.(856-858)cCc>cTc	p.P286L	C1orf177_ENST00000358193.3_Missense_Mutation_p.P286L	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	286										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCTAAACTTCCCCGAAACCCG	0.473																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(856-858)cCc>cTc		chromosome 1 open reading frame 177							88.0	95.0	93.0					1																	55279581		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55279581C>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.857C>T	1.37:g.55279581C>T	ENSP00000360320:p.Pro286Leu					C1orf177_ENST00000371273.3_Missense_Mutation_p.P286L	p.P286L	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			7	911	+			286					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.857C>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225282	0.22457	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.23552	1.9;1.9	4.98	4.98	0.66077	.	0.491436	0.20299	N	0.095066	T	0.34454	0.0898	L	0.50333	1.59	0.24281	N	0.995202	P;P	0.51351	0.944;0.944	P;P	0.50617	0.646;0.646	T	0.14476	-1.0471	10	0.54805	T	0.06	.	13.6147	0.62101	0.0:1.0:0.0:0.0	.	286;286	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	L	286	ENSP00000350924:P286L;ENSP00000360320:P286L	ENSP00000350924:P286L	P	+	2	0	C1orf177	55052169	0.344000	0.24827	0.047000	0.18901	0.105000	0.19272	2.504000	0.45416	2.588000	0.87417	0.561000	0.74099	CCC		0.473	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		35	45	0	0	0	1	0	35	45				
OR2J3	442186	broad.mit.edu	37	6	29080275	29080275	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:29080275T>C	ENST00000377169.1	+	1	608	c.608T>C	c.(607-609)aTg>aCg	p.M203T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGACCCTCATGATCACAAGC	0.473																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(607-609)aTg>aCg		olfactory receptor, family 2, subfamily J, member 3							101.0	112.0	108.0					6																	29080275		1332	2601	3933	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080275T>C		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.608T>C	6.37:g.29080275T>C	ENSP00000366374:p.Met203Thr						p.M203T	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	608	+			203					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.608T>C	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	0.911	-0.719116	0.03182	.	.	ENSG00000204701	ENST00000377169	T	0.00044	8.83	2.78	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.03281	-0.365	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.19224	-1.0312	9	0.72032	D	0.01	.	7.5106	0.27571	0.1931:0.0:0.0:0.8069	.	203	O76001	OR2J3_HUMAN	T	203	ENSP00000366374:M203T	ENSP00000366374:M203T	M	+	2	0	OR2J3	29188254	0.134000	0.22483	0.020000	0.16555	0.045000	0.14185	2.310000	0.43708	0.235000	0.21160	0.358000	0.22013	ATG		0.473	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			10	78	0	0	0	1	0	10	78				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	107	0	0	0	1	0	4	107				
AKAP12	9590	broad.mit.edu	37	6	151672064	151672064	+	Silent	SNP	G	G	A			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:151672064G>A	ENST00000253332.1	+	3	2727	c.2538G>A	c.(2536-2538)gtG>gtA	p.V846V	AKAP12_ENST00000359755.5_Silent_p.V741V|AKAP12_ENST00000402676.2_Silent_p.V846V|AKAP12_ENST00000354675.6_Silent_p.V748V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	846					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCCCGGCCGTGGTCCCTCTGT	0.557																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2536-2538)gtG>gtA		A kinase (PRKA) anchor protein 12							92.0	103.0	99.0					6																	151672064		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672064G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2538G>A	6.37:g.151672064G>A						AKAP12_ENST00000359755.5_Silent_p.V741V|AKAP12_ENST00000354675.6_Silent_p.V748V|AKAP12_ENST00000253332.1_Silent_p.V846V	p.V846V	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2778	+		Ovarian(120;0.125)	846					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2538G>A	CCDS5229.1																																																																																				0.557	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			60	90	0	0	0	1	0	60	90				
AURKC	6795	broad.mit.edu	37	19	57743156	57743156	+	Splice_Site	SNP	G	G	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr19:57743156G>T	ENST00000302804.7	+	2	290		c.e2+1		AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000598785.1_Splice_Site|AURKC_ENST00000448930.1_Splice_Site|AURKC_ENST00000599062.1_Splice_Site	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C						attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		gcccagcCATGTGAGTCCCTT	0.577																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.e2+1		aurora kinase C							104.0	102.0	103.0					19																	57743156		2203	4300	6503	SO:0001630	splice_region_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743156G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.104+1G>T	19.37:g.57743156G>T						AURKC_ENST00000448930.1_Splice_Site|AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000599062.1_Splice_Site|AURKC_ENST00000598785.1_Splice_Site		NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	2	290	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)						O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Splice_Site	SNP	ENST00000302804.7	37		CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	2.710	-0.269055	0.05716	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	.	.	.	2.72	0.579	0.17397	.	.	.	.	.	.	.	.	.	.	.	0.24208	N	0.995486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.806	0.13321	0.2984:0.0:0.7016:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AURKC	62434968	0.676000	0.27567	0.068000	0.19968	0.002000	0.02628	0.657000	0.24963	0.241000	0.21283	-0.373000	0.07131	.		0.577	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	Intron	10	96	1	0	1.76689e-08	1	1.89017e-08	10	96				
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	484						8	484	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	lincRNA	DEL	AAT	AAT	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246																																						ENST00000417039.1																			0																																																			0							g.chr2:38710017_38710019delAAT																													2.37:g.38710017_38710019delAAT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.246	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			5	10						5	10	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37836301	37836301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr4:37836301delG	ENST00000381967.4	+	3	411	c.311delG	c.(310-312)agtfs	p.S104fs	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	104					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATCGTGATCAGTTTTGACGCC	0.338																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(310-312)atfs		phosphoglucomutase 2							91.0	102.0	99.0					4																	37836301		2203	4300	6503	SO:0001589	frameshift_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37836301delG	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.311delG	4.37:g.37836301delG	ENSP00000371393:p.Ser104fs					PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	p.S104fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			3	411	+			104					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Frame_Shift_Del	DEL	ENST00000381967.4	37	c.311delG	CCDS3443.1																																																																																				0.338	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		12	143						12	143	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35108990	35108990	+	5'Flank	DEL	C	C	-	rs142993601		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:35108990delC	ENST00000512012.1	-	0	0				TCP11_ENST00000311875.5_Frame_Shift_Del_p.G8fs|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000373974.4_Frame_Shift_Del_p.G8fs|TCP11_ENST00000373979.2_5'UTR|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Del_p.G8fs|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000412155.2_Frame_Shift_Del_p.G9fs			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G6fs*56(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ACCTCCTCCTCCCCCGCCGCG	0.781																																						ENST00000311875.5																			1	Deletion - Frameshift(1)	p.G6fs*56(1)	prostate(1)	breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(16-18)gafs		t-complex 11, testis-specific			,	45,1725		18,9,858	1.0	2.0	2.0		,	-4.3	0.0	6	dbSNP_134	2	393,3979		136,121,1929	no	utr-5,frameshift	TCP11	NM_018679.4,NM_001093728.1	,	154,130,2787	A1A1,A1R,RR		8.989,2.5424,7.1312	,	,	35108990	438,5704	1074	2568	3642	SO:0001631	upstream_gene_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35108990delC		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560		6.37:g.35108990delC	Exception_encountered					TCP11_ENST00000373974.4_Frame_Shift_Del_p.G8fs|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000412155.2_Frame_Shift_Del_p.G9fs|TCP11_ENST00000373979.2_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Del_p.G8fs|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000418521.2_Intron	p.G8fs			Q8WWU5	TCP11_HUMAN			1	434	-			0					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Frame_Shift_Del	DEL	ENST00000512012.1	37	c.17delG																																																																																					0.781	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		2	4						2	4	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		2	4						2	4	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	56032588	56032605	+	In_Frame_Del	DEL	GCAAGATGAGCTTTTTGA	GCAAGATGAGCTTTTTGA	-			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr15:56032588_56032605delGCAAGATGAGCTTTTTGA	ENST00000561292.1	-	2	530_547	c.372_389delTCAAAAAGCTCATCTTGC	c.(370-390)agtcaaaaagctcatcttgcc>agc	p.QKAHLA125del	PRTG_ENST00000389286.4_In_Frame_Del_p.QKAHLA125del					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTGATAAGGCAAGATGAGCTTTTTGACTAAGAATGG	0.372																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(370-390)agc>ag		protogenin																																				SO:0001651	inframe_deletion	283659				multicellular organismal development	integral to membrane		g.chr15:56032588_56032605delGCAAGATGAGCTTTTTGA	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.372_389delTCAAAAAGCTCATCTTGC	15.37:g.56032588_56032605delGCAAGATGAGCTTTTTGA	ENSP00000453335:p.Gln125_Ala130del					PRTG_ENST00000561292.1_In_Frame_Del_p.SQKAHLA124del	p.SQKAHLA124del	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	2	419_436	-			124			Ig-like 1.			In_Frame_Del	DEL	ENST00000561292.1	37	c.372_389delTCAAAAAGCTCATCTTGC																																																																																					0.372	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		24	139						24	139	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3307-3312)aaatgafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349640_89349641insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs	p.*1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3769_3770	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1104			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3309_3310insA	CCDS32513.1																																																																																				0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	243						7	243	---	---	---	---
LRRC75A	388341	broad.mit.edu	37	17	16344167	16344168	+	IGR	DEL	AA	AA	-	rs112317984|rs555182592|rs375610325	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:16344167_16344168delAA	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						actccatctcaaaaaaaaaaaa	0.411																																						ENST00000475953.1																			0																																																	SO:0001628	intergenic_variant	125144							g.chr17:16344167_16344168delAA																													17.37:g.16344177_16344178delAA						C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA		NR_027667.1						0	483	+									RNA	DEL	ENST00000409083.3	37		CCDS11178.2																																																																																				0.411	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			9	54						9	54	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42874925	42874925	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr19:42874925delG	ENST00000251268.6	+	40	7078	c.7078delG	c.(7078-7080)gggfs	p.G2360fs	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Frame_Shift_Del_p.G2293fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2360					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TAACAGCTATGGGGAGAAATG	0.602																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6877-6879)ggfs		multiple EGF-like-domains 8							60.0	52.0	55.0					19																	42874925		2202	4296	6498	SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42874925delG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7078delG	19.37:g.42874925delG	ENSP00000251268:p.Gly2360fs					MEGF8_ENST00000251268.6_Frame_Shift_Del_p.G2360fs|MEGF8_ENST00000378073.4_5'UTR	p.G2293fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			39	7512	+		Prostate(69;0.00682)	2360			Laminin EGF-like 3.		A8KAY0|O75097	Frame_Shift_Del	DEL	ENST00000251268.6	37	c.6877delG																																																																																					0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			4	5						4	5	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37555322	37555323	+	In_Frame_Ins	INS	-	-	GCG	rs570408132|rs534813259	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr20:37555322_37555323insGCG	ENST00000217429.4	+	1	368_369	c.327_328insGCG	c.(328-330)gcg>GCGgcg	p.110_110A>AA		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	80					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGGAGGGCgcggcggcggc	0.718																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(325-330)ggcggc>ggGCGcggc		family with sequence similarity 83, member D																																				SO:0001652	inframe_insertion	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555322_37555323insGCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.343_345dupGCG	20.37:g.37555329_37555331dupGCG	ENSP00000217429:p.Ala116dup						p.109_110GG>GRG	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			1	368_369	+		Myeloproliferative disorder(115;0.00878)	79					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Ins	INS	ENST00000217429.4	37	c.327_328insGCG	CCDS42872.1																																																																																				0.718	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			4	2						4	2	---	---	---	---
