#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_match_norm_validation_allele1	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_tumor_sample
CPTP	80772	broad.mit.edu	37	1	1262754	1262754	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:1262754G>A	ENST00000343938.4	+	3	667	c.256G>A	c.(256-258)Gag>Aag	p.E86K	CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000545578.1_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|GLTPD1_ENST00000464957.1_3'UTR|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000411962.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN		86					ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGCCCACGAGCTGAGCAA	0.706																																						uc001aeo.2		NaN																	0					0						c.(256-258)GAG>AAG		glycolipid transfer protein domain containing 1							21.0	22.0	22.0					1																	1262754		2190	4294	6484	SO:0001583	missense	80772					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr1:1262754G>A																												ENST00000343938.4:c.256G>A	1.37:g.1262754G>A	ENSP00000343890:p.Glu86Lys					CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	p.E86K	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	671	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	86					Q4G0E6|Q7L5A4	Missense_Mutation	SNP	ENST00000343938.4	37	c.256G>A	CCDS30555.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513896	0.64522	.	.	ENSG00000224051	ENST00000343938	.	.	.	5.02	4.1	0.47936	Glycolipid transfer protein domain (3);	0.000000	0.85682	U	0.000000	T	0.69869	0.3159	M	0.92691	3.335	0.80722	D	1	P	0.38504	0.634	B	0.36418	0.224	T	0.76732	-0.2851	9	0.87932	D	0	-24.2889	13.4086	0.60929	0.0769:0.0:0.9231:0.0	.	86	Q5TA50	GLTD1_HUMAN	K	86	.	ENSP00000343890:E86K	E	+	1	0	GLTPD1	1252617	1.000000	0.71417	0.201000	0.23476	0.001000	0.01503	9.618000	0.98365	1.105000	0.41606	-0.258000	0.10820	GAG		0.706	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008742.1				5	15	0	0	0	0.000602	0	5	15		
PRAMEF12	390999	broad.mit.edu	37	1	12835183	12835183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:12835183C>T	ENST00000357726.4	+	1	200	c.173C>T	c.(172-174)gCc>gTc	p.A58V		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	58					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTGCAGGCCTGGCCCTTC	0.577																																						uc001aui.2		NaN																	0				ovary(3)	3						c.(172-174)GCC>GTC		PRAME family member 12							80.0	85.0	83.0					1																	12835183		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12835183C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.173C>T	1.37:g.12835183C>T	ENSP00000350358:p.Ala58Val						p.A58V	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	200	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	58						Missense_Mutation	SNP	ENST00000357726.4	37	c.173C>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.284333	0.40394	.	.	ENSG00000116726	ENST00000357726	T	0.15139	2.45	2.68	1.73	0.24493	.	0.898344	0.09686	N	0.769021	T	0.29945	0.0749	L	0.55990	1.75	0.22185	N	0.999301	D	0.69078	0.997	D	0.65140	0.932	T	0.15093	-1.0449	10	0.31617	T	0.26	.	6.9745	0.24666	0.0:0.8446:0.0:0.1554	.	58	O95522	PRA12_HUMAN	V	58	ENSP00000350358:A58V	ENSP00000350358:A58V	A	+	2	0	PRAMEF12	12757770	0.031000	0.19500	0.998000	0.56505	0.306000	0.27790	0.071000	0.14594	0.646000	0.30693	0.195000	0.17529	GCC		0.577	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1		XM_372760		17	76	0	0	0	0.00499	0	17	76		
UBR4	23352	broad.mit.edu	37	1	19473366	19473366	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:19473366G>T	ENST00000375254.3	-	52	7785	c.7758C>A	c.(7756-7758)aaC>aaA	p.N2586K	UBR4_ENST00000375267.2_Missense_Mutation_p.N2586K|UBR4_ENST00000375226.2_Missense_Mutation_p.N2597K|UBR4_ENST00000375217.2_Missense_Mutation_p.N2586K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2586					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGACAAGGTTGTTGGGGCGCA	0.517																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7756-7758)AAC>AAA		retinoblastoma-associated factor 600							216.0	203.0	207.0					1																	19473366		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19473366G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7758C>A	1.37:g.19473366G>T	ENSP00000364403:p.Asn2586Lys					UBR4_uc001bbk.1_Missense_Mutation_p.N240K	p.N2586K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	52	7762	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2586					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7758C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426677	0.62733	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.22134	1.98;1.98;1.97;1.99	5.95	3.1	0.35709	.	0.051811	0.85682	D	0.000000	T	0.12008	0.0292	N	0.22421	0.69	0.80722	D	1	P	0.37781	0.608	B	0.27380	0.079	T	0.06881	-1.0802	10	0.51188	T	0.08	.	11.6461	0.51261	0.1836:0.0:0.8164:0.0	.	2586	Q5T4S7	UBR4_HUMAN	K	2586;2586;2586;2597;201;1307	ENSP00000364403:N2586K;ENSP00000364416:N2586K;ENSP00000364365:N2586K;ENSP00000364374:N2597K	ENSP00000364365:N2586K	N	-	3	2	UBR4	19345953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.595000	0.61048	0.428000	0.26173	0.563000	0.77884	AAC		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		25	155	1	0	9.86323e-18	0.003954	1.13853e-17	25	155		
GRIK3	2899	broad.mit.edu	37	1	37271789	37271789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:37271789C>A	ENST00000373091.3	-	14	2246	c.2230G>T	c.(2230-2232)Gag>Tag	p.E744*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.E744*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	744					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTGACGTACTCGATGGTGGTG	0.637																																						uc001caz.2		NaN																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2230-2232)GAG>TAG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						191.0	137.0	155.0					1																	37271789		2203	4300	6503	SO:0001587	stop_gained	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271789C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2230G>T	1.37:g.37271789C>A	ENSP00000362183:p.Glu744*					GRIK3_uc001cba.1_Nonsense_Mutation_p.E744*	p.E744*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2365	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	744			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Nonsense_Mutation	SNP	ENST00000373091.3	37	c.2230G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	39	7.634530	0.98403	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.31	5.31	0.75309	.	0.060434	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9665	0.92698	0.0:1.0:0.0:0.0	.	.	.	.	X	744	.	ENSP00000362183:E744X	E	-	1	0	GRIK3	37044376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.484000	0.83849	0.549000	0.68633	GAG		0.637	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831		21	34	1	0	1.66031e-10	0.003954	1.83714e-10	21	34		
RLF	6018	broad.mit.edu	37	1	40704314	40704314	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:40704314C>A	ENST00000372771.4	+	8	3967	c.3940C>A	c.(3940-3942)Cat>Aat	p.H1314N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1314					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATTGTATTCATAAAACTTG	0.368																																						uc001cfc.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(3940-3942)CAT>AAT		rearranged L-myc fusion							60.0	56.0	57.0					1																	40704314		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40704314C>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3940C>A	1.37:g.40704314C>A	ENSP00000361857:p.His1314Asn					RLF_uc001cfd.3_Missense_Mutation_p.H1005N	p.H1314N	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	3971	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1314			C2H2-type 10.		Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.3940C>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893390	0.72524	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15017	2.46	5.91	5.91	0.95273	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.100543	0.64402	D	0.000002	T	0.39911	0.1096	L	0.52573	1.65	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.74674	0.973;0.984	T	0.04203	-1.0969	10	0.87932	D	0	-12.7303	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1007;1314	F5H2M5;Q13129	.;RLF_HUMAN	N	1314;1007	ENSP00000361857:H1314N	ENSP00000361857:H1314N	H	+	1	0	RLF	40476901	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.796000	0.62496	2.793000	0.96121	0.655000	0.94253	CAT		0.368	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421		8	37	1	0	1.12685e-05	0.004482	1.17721e-05	8	37		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801782	74801782	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:74801782G>C	ENST00000370899.3	+	9	971	c.934G>C	c.(934-936)Gga>Cga	p.G312R	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.G325R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G312R|TNNI3K_ENST00000326637.3_Missense_Mutation_p.G211R|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.G312R	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		ATCTGCAAAAGGATTCTTGAA	0.358																																						uc001dgf.1		NaN																	0				large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(631-633)GGA>CGA		TNNI3 interacting kinase isoform b							97.0	95.0	96.0					1																	74801782		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74801782G>C			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.934G>C	1.37:g.74801782G>C	ENSP00000359936:p.Gly312Arg					TNNI3K_uc001dgc.1_Missense_Mutation_p.G312R|TNNI3K_uc001dgd.2_Missense_Mutation_p.G312R|TNNI3K_uc001dge.1_Missense_Mutation_p.G312R	p.G211R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			7	682	+			211			ANK 5.			Missense_Mutation	SNP	ENST00000370899.3	37	c.631G>C		.	.	.	.	.	.	.	.	.	.	G	24.6	4.549502	0.86127	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.74842	-0.69;-0.69;-0.88;-0.88;-0.69	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.85489	0.1184	10	0.59425	D	0.04	.	18.768	0.91880	0.0:0.0:1.0:0.0	.	211;312;312;312	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	R	312;312;312;312;211	ENSP00000359936:G312R;ENSP00000359932:G312R;ENSP00000450895:G312R;ENSP00000359928:G312R;ENSP00000322251:G211R	ENSP00000322251:G211R	G	+	1	0	RP11-653A5.2;AC093158.1	74574370	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.080000	0.94040	2.669000	0.90835	0.585000	0.79938	GGA		0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3				23	41	0	0	0	0.014323	0	23	41		
RPF1	80135	broad.mit.edu	37	1	84944970	84944970	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:84944970G>T	ENST00000370654.5	+	1	21	c.6G>T	c.(4-6)gcG>gcT	p.A2A	RPF1_ENST00000370656.1_Silent_p.A2A	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	2					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AGACCATGGCGAAAGCCGGGG	0.552																																						uc001djv.3		NaN																	0					0						c.(4-6)GCG>GCT		RNA processing factor 1							24.0	25.0	25.0					1																	84944970		2202	4293	6495	SO:0001819	synonymous_variant	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84944970G>T	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.6G>T	1.37:g.84944970G>T							p.A2A	NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN			1	51	+			2					Q5VSK7|Q6AHX1|Q8WXZ8	Silent	SNP	ENST00000370654.5	37	c.6G>T	CCDS695.1																																																																																				0.552	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1		NM_025065		11	19	1	0	1.61879e-10	0.013537	1.80187e-10	11	19		
RPL5	6125	broad.mit.edu	37	1	93300335	93300335	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:93300335G>A	ENST00000370321.3	+	4	279		c.e4-1		SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TCTTACTATAGATTGCTTATG	0.388																																						uc001doz.2		NaN																	0					0						c.e4-1		ribosomal protein L5							117.0	126.0	123.0					1																	93300335		2203	4300	6503	SO:0001630	splice_region_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300335G>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.190-1G>A	1.37:g.93300335G>A						FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.I14_splice|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank	p.I64_splice	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	268	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)						Q32LZ3|Q53HH6|Q9H3F4	Splice_Site	SNP	ENST00000370321.3	37	c.190_splice	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166429	0.78339	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6065	0.91268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPL5	93072923	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	9.779000	0.99018	2.393000	0.81446	0.650000	0.86243	.		0.388	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2		NM_000969	Intron	67	80	0	0	0	0.01441	0	67	80		
MYBPHL	343263	broad.mit.edu	37	1	109838858	109838858	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:109838858G>A	ENST00000357155.1	-	6	914	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	289	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CCACTCACCCGGGGAGAGGCG	0.562																																						uc001dxk.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(865-867)CGG>TGG		myosin binding protein H-like							63.0	72.0	69.0					1																	109838858		2203	4300	6503	SO:0001583	missense	343263							g.chr1:109838858G>A	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.865C>T	1.37:g.109838858G>A	ENSP00000349678:p.Arg289Trp					MYBPHL_uc010ovh.1_Missense_Mutation_p.R266W|MYBPHL_uc001dxl.2_Intron	p.R289W	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	6	915	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	289			Ig-like C2-type 2.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.865C>T	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659056	0.67586	.	.	ENSG00000221986	ENST00000357155	T	0.67865	-0.29	5.16	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74023	0.3662	M	0.85859	2.78	0.34411	D	0.696363	D;D	0.71674	0.994;0.998	P;D	0.64321	0.901;0.924	T	0.77728	-0.2479	9	0.87932	D	0	.	10.7326	0.46107	0.0:0.0:0.3838:0.6162	.	266;289	B7ZME5;A2RUH7	.;MBPHL_HUMAN	W	289	ENSP00000349678:R289W	ENSP00000349678:R289W	R	-	1	2	MYBPHL	109640381	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.154000	0.50693	1.028000	0.39785	0.561000	0.74099	CGG		0.562	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1		NM_001010985		43	102	0	0	0	0.009718	0	43	102		
SPAG17	200162	broad.mit.edu	37	1	118623868	118623868	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:118623868G>C	ENST00000336338.5	-	15	2130	c.2065C>G	c.(2065-2067)Cga>Gga	p.R689G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	689						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAAGGTTCTCGGTTGCTTTCA	0.363																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2065-2067)CGA>GGA		sperm associated antigen 17							158.0	145.0	149.0					1																	118623868		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118623868G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2065C>G	1.37:g.118623868G>C	ENSP00000337804:p.Arg689Gly						p.R689G	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	15	2133	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	689					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2065C>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	2.658	-0.280488	0.05642	.	.	ENSG00000155761	ENST00000336338	T	0.19394	2.15	3.72	-1.66	0.08265	.	1.654840	0.03254	N	0.182300	T	0.04092	0.0114	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36138	-0.9760	10	0.38643	T	0.18	.	4.2545	0.10710	0.0:0.3305:0.1904:0.4791	.	689	Q6Q759	SPG17_HUMAN	G	689	ENSP00000337804:R689G	ENSP00000337804:R689G	R	-	1	2	SPAG17	118425391	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.679000	0.05203	-0.304000	0.08843	-1.058000	0.02302	CGA		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		22	126	0	0	0	0.00333	0	22	126		
ANKRD35	148741	broad.mit.edu	37	1	145563013	145563013	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:145563013C>T	ENST00000355594.4	+	10	2788	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	901										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCGGGGGCGCTCCGAGCA	0.667																																					Melanoma(9;127 754 22988 51047)	uc001eob.1		NaN																	0				ovary(4)|skin(1)	5						c.(2701-2703)CGC>TGC		ankyrin repeat domain 35							26.0	31.0	29.0					1																	145563013		2203	4296	6499	SO:0001583	missense	148741							g.chr1:145563013C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2701C>T	1.37:g.145563013C>T	ENSP00000347802:p.Arg901Cys					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R744C	p.R901C	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	2809	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		901			Potential.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.2701C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661682	0.67700	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.58652	0.32	5.49	4.58	0.56647	.	0.000000	0.52532	D	0.000080	T	0.42063	0.1186	M	0.73598	2.24	0.80722	D	1	B	0.22541	0.071	B	0.14578	0.011	T	0.54105	-0.8343	10	0.87932	D	0	-5.5799	10.0746	0.42353	0.0:0.9104:0.0:0.0896	.	901	Q8N283	ANR35_HUMAN	C	810;901	ENSP00000347802:R901C	ENSP00000347802:R901C	R	+	1	0	ANKRD35	144274370	0.967000	0.33354	0.998000	0.56505	0.845000	0.48019	1.825000	0.39081	1.559000	0.49555	0.650000	0.86243	CGC		0.667	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1		NM_144698		9	36	0	0	0	0.004482	0	9	36		
GPR89B	51463	broad.mit.edu	37	1	147400669	147400669	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:147400669C>G	ENST00000314163.7	+	1	164	c.20C>G	c.(19-21)tCc>tGc	p.S7C		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	7					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					CTGATCGACTCCAGCATCATG	0.662																																						uc001epv.3		NaN																	0					0						c.(19-21)TCC>TGC		G protein-coupled receptor 89B							98.0	100.0	99.0					1																	147400669		2203	4300	6503	SO:0001583	missense	51463				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:147400669C>G	U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.20C>G	1.37:g.147400669C>G	ENSP00000358233:p.Ser7Cys					GPR89B_uc010ozs.1_Missense_Mutation_p.S7C|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'Flank	p.S7C	NM_016334	NP_057418	B7ZAQ6	GPHRA_HUMAN			1	164	+	all_hematologic(923;0.0276)		7			Helical; (Potential).		A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	ENST00000314163.7	37	c.20C>G	CCDS930.1	.	.	.	.	.	.	.	.	.	.	c	12.51	1.960500	0.34565	.	.	ENSG00000188092	ENST00000314163	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	.	.	.	0.58432	D	0.999998	B	0.14805	0.011	B	0.12156	0.007	T	0.10613	-1.0622	8	0.23302	T	0.38	-11.7047	12.6707	0.56866	0.0:1.0:0.0:0.0	.	7	B4DT03	.	C	7	.	ENSP00000358233:S7C	S	+	2	0	GPR89B	145867293	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.586000	0.53950	2.119000	0.64992	0.557000	0.71058	TCC		0.662	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037481.2		NM_016334		24	58	0	0	0	0.005443	0	24	58		
HIST2H2AC	8338	broad.mit.edu	37	1	149858559	149858559	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:149858559G>T	ENST00000331380.2	+	1	35	c.35G>T	c.(34-36)cGc>cTc	p.R12L	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCAAGGCCCGCGCCAAGGCC	0.582																																						uc001etd.2		NaN																	0				ovary(1)|skin(1)	2						c.(34-36)CGC>CTC		histone cluster 2, H2ac							78.0	86.0	83.0					1																	149858559		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858559G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.35G>T	1.37:g.149858559G>T	ENSP00000332194:p.Arg12Leu					HIST2H2BE_uc001etc.2_5'Flank	p.R12L	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	35	+	Breast(34;0.0124)|all_hematologic(923;0.127)		12					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.35G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643489	0.47258	.	.	ENSG00000184260	ENST00000331380	T	0.46063	0.88	5.81	4.88	0.63580	Histone-fold (2);Histone H2A (1);	0.000000	0.44688	D	0.000428	T	0.30448	0.0765	M	0.80982	2.52	0.44995	D	0.99801	P	0.48230	0.907	B	0.33690	0.168	T	0.48328	-0.9045	10	0.87932	D	0	.	15.5214	0.75869	0.0:0.139:0.861:0.0	.	12	Q16777	H2A2C_HUMAN	L	12	ENSP00000332194:R12L	ENSP00000332194:R12L	R	+	2	0	HIST2H2AC	148125183	0.975000	0.34042	0.995000	0.50966	0.931000	0.56810	5.589000	0.67523	1.424000	0.47217	0.655000	0.94253	CGC		0.582	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1		NM_003517		74	111	1	0	3.76054e-38	0.01441	4.5369e-38	74	111		
ATP1A4	480	broad.mit.edu	37	1	160143967	160143967	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160143967G>C	ENST00000368081.4	+	14	2529	c.2058G>C	c.(2056-2058)caG>caC	p.Q686H	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	686					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			agcttgatcagatcctccaga	0.493																																						uc001fve.3		NaN																	0				ovary(2)|skin(2)	4						c.(2056-2058)CAG>CAC		Na+/K+ -ATPase alpha 4 subunit isoform 1							129.0	117.0	121.0					1																	160143967		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160143967G>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2058G>C	1.37:g.160143967G>C	ENSP00000357060:p.Gln686His					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q189H	p.Q686H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	2537	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		686			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2058G>C	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684119	0.47991	.	.	ENSG00000132681	ENST00000368081	D	0.97114	-4.25	4.27	-4.39	0.03611	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.826177	0.10856	N	0.626686	D	0.85423	0.5693	N	0.16833	0.445	0.44635	D	0.997613	B	0.02656	0.0	B	0.08055	0.003	T	0.65845	-0.6069	10	0.59425	D	0.04	.	6.9363	0.24468	0.0803:0.5655:0.1434:0.2109	.	686	Q13733	AT1A4_HUMAN	H	686	ENSP00000357060:Q686H	ENSP00000357060:Q686H	Q	+	3	2	ATP1A4	158410591	0.000000	0.05858	0.006000	0.13384	0.846000	0.48090	-1.332000	0.02670	-0.749000	0.04747	0.655000	0.94253	CAG		0.493	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1		NM_144699		18	70	0	0	0	0.012319	0	18	70		
ATP1A4	480	broad.mit.edu	37	1	160143998	160143998	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160143998G>C	ENST00000368081.4	+	14	2560	c.2089G>C	c.(2089-2091)Gct>Cct	p.A697P	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	697					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			gatcgtgtttgctcgGACCTC	0.537																																						uc001fve.3		NaN																	0				ovary(2)|skin(2)	4						c.(2089-2091)GCT>CCT		Na+/K+ -ATPase alpha 4 subunit isoform 1							121.0	108.0	113.0					1																	160143998		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160143998G>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2089G>C	1.37:g.160143998G>C	ENSP00000357060:p.Ala697Pro					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.A200P	p.A697P	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	2568	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		697			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2089G>C	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904886	0.92035	.	.	ENSG00000132681	ENST00000368081	D	0.97831	-4.56	4.27	4.27	0.50696	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.99042	4.41	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.98507	1.0617	10	0.87932	D	0	.	14.5908	0.68362	0.0:0.0:1.0:0.0	.	697	Q13733	AT1A4_HUMAN	P	697	ENSP00000357060:A697P	ENSP00000357060:A697P	A	+	1	0	ATP1A4	158410622	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.619000	0.98369	2.371000	0.80710	0.655000	0.94253	GCT		0.537	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1		NM_144699		16	79	0	0	0	0.006122	0	16	79		
ATP1A4	480	broad.mit.edu	37	1	160146388	160146388	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:160146388G>C	ENST00000368081.4	+	17	3057	c.2586G>C	c.(2584-2586)caG>caC	p.Q862H	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	862					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTATGGACAGATTGGTGCGC	0.527																																						uc001fve.3		NaN																	0				ovary(2)|skin(2)	4						c.(2584-2586)CAG>CAC		Na+/K+ -ATPase alpha 4 subunit isoform 1							51.0	44.0	47.0					1																	160146388		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160146388G>C	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2586G>C	1.37:g.160146388G>C	ENSP00000357060:p.Gln862His					ATP1A4_uc001fvf.3_Intron|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q365H|ATP1A4_uc001fvh.2_5'Flank	p.Q862H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	3065	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		862			Helical; (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2586G>C	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034731	0.54896	.	.	ENSG00000132681	ENST00000368081	D	0.95980	-3.87	4.7	2.79	0.32731	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95677	0.8594	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94901	0.8056	10	0.87932	D	0	.	5.5544	0.17109	0.1916:0.1681:0.6403:0.0	.	862	Q13733	AT1A4_HUMAN	H	862	ENSP00000357060:Q862H	ENSP00000357060:Q862H	Q	+	3	2	ATP1A4	158413012	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.241000	0.43097	1.121000	0.41925	0.561000	0.74099	CAG		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1		NM_144699		15	45	0	0	0	0.00499	0	15	45		
HSPA6	3310	broad.mit.edu	37	1	161495361	161495361	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:161495361G>C	ENST00000309758.4	+	1	1326	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	305					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCGCTTTGAGGAACTGTG	0.627																																						uc001gap.2		NaN																	0				skin(1)	1						c.(913-915)GAG>CAG		heat shock 70kDa protein 6 (HSP70B')							26.0	29.0	28.0					1																	161495361		2202	4300	6502	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495361G>C		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.913G>C	1.37:g.161495361G>C	ENSP00000310219:p.Glu305Gln					HSPA6_uc001gaq.2_Missense_Mutation_p.E305Q	p.E305Q	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1573	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		305					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.913G>C	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	18.55	3.648758	0.67358	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01246	5.11	3.12	3.12	0.35913	.	0.000000	0.39341	U	0.001397	T	0.08802	0.0218	H	0.97587	4.035	0.47065	D	0.999307	D	0.89917	1.0	D	0.97110	1.0	T	0.01930	-1.1245	10	0.87932	D	0	.	11.6907	0.51514	0.0:0.0:1.0:0.0	.	305	P17066	HSP76_HUMAN	Q	305;281	ENSP00000310219:E305Q	ENSP00000310219:E305Q	E	+	1	0	HSPA6	159761985	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.653000	0.74382	1.544000	0.49359	0.543000	0.68304	GAG		0.627	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1		NM_002155		20	19	0	0	0	0.010504	0	20	19		
ZBTB37	84614	broad.mit.edu	37	1	173839474	173839474	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:173839474T>G	ENST00000367701.5	+	2	302	c.111T>G	c.(109-111)aaT>aaG	p.N37K	GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367702.1_Missense_Mutation_p.N37K|ZBTB37_ENST00000427304.1_Missense_Mutation_p.N37K|ZBTB37_ENST00000432989.1_Missense_Mutation_p.N37K|ZBTB37_ENST00000367704.1_Missense_Mutation_p.N37K			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TTGTGGTCAATGTGCAAGGAC	0.507																																						uc009wwp.1		NaN																	0					0						c.(109-111)AAT>AAG		zinc finger and BTB domain containing 37 isoform							111.0	104.0	106.0					1																	173839474		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839474T>G	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.111T>G	1.37:g.173839474T>G	ENSP00000356674:p.Asn37Lys					GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.N37K|ZBTB37_uc001gjq.3_Missense_Mutation_p.N37K|ZBTB37_uc001gjr.2_Missense_Mutation_p.N37K	p.N37K	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	387	+			37			BTB.		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.111T>G	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436569	0.25813	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.6	-1.54	0.08584	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.082525	0.85682	D	0.000000	T	0.37625	0.1010	N	0.02865	-0.47	0.58432	D	0.999998	D;B	0.63880	0.993;0.071	D;B	0.72982	0.979;0.099	T	0.47971	-0.9075	10	0.35671	T	0.21	.	12.1451	0.54018	0.0:0.3661:0.0:0.6339	.	37;37	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	K	37	ENSP00000356677:N37K;ENSP00000415293:N37K;ENSP00000409408:N37K;ENSP00000356675:N37K;ENSP00000356674:N37K	ENSP00000356674:N37K	N	+	3	2	ZBTB37	172106097	0.176000	0.23096	0.987000	0.45799	0.978000	0.69477	-0.499000	0.06413	-0.530000	0.06349	-0.371000	0.07208	AAT		0.507	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2		NM_032522		39	92	0	0	0	0.004878	0	39	92		
HMCN1	83872	broad.mit.edu	37	1	185987360	185987360	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:185987360G>C	ENST00000271588.4	+	34	5575	c.5346G>C	c.(5344-5346)aaG>aaC	p.K1782N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K1782N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1782	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTCAAGATTTTATTAA	0.398																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(5344-5346)AAG>AAC		hemicentin 1 precursor							150.0	149.0	149.0					1																	185987360		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185987360G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5346G>C	1.37:g.185987360G>C	ENSP00000271588:p.Lys1782Asn						p.K1782N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			34	5575	+			1782			Ig-like C2-type 15.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5346G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871653	0.33069	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.89	4.03	0.46877	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387678	0.30060	N	0.010509	T	0.57301	0.2044	L	0.28608	0.87	0.29644	N	0.844461	P	0.41131	0.739	P	0.48270	0.572	T	0.52109	-0.8619	10	0.21014	T	0.42	.	6.5926	0.22656	0.2017:0.0:0.672:0.1263	.	1782	Q96RW7	HMCN1_HUMAN	N	1782	ENSP00000271588:K1782N;ENSP00000356462:K1782N	ENSP00000271588:K1782N	K	+	3	2	HMCN1	184253983	1.000000	0.71417	0.905000	0.35620	0.354000	0.29330	2.812000	0.47994	0.838000	0.34948	0.563000	0.77884	AAG		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		30	90	0	0	0	0.008361	0	30	90		
CFHR5	81494	broad.mit.edu	37	1	196967415	196967415	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:196967415T>A	ENST00000256785.4	+	7	1237	c.1128T>A	c.(1126-1128)aaT>aaA	p.N376K	CFHR5_ENST00000367414.5_Missense_Mutation_p.N400K			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	376	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGAAATGGAATCCTGAAGTAG	0.308																																						uc001gts.3		NaN																	0				breast(1)|skin(1)	2						c.(1126-1128)AAT>AAA		complement factor H-related 5 precursor							42.0	41.0	41.0					1																	196967415		2203	4296	6499	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196967415T>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1128T>A	1.37:g.196967415T>A	ENSP00000256785:p.Asn376Lys						p.N376K	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			7	1256	+			376			Sushi 6.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1128T>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523650	0.44866	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64085	-0.08;-0.08	3.28	-5.86	0.02304	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.40719	0.1128	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.24006	0.05	T	0.34104	-0.9842	9	0.54805	T	0.06	.	0.8522	0.01175	0.1639:0.2234:0.3344:0.2782	.	376	Q9BXR6	FHR5_HUMAN	K	400;376	ENSP00000356384:N400K;ENSP00000256785:N376K	ENSP00000256785:N376K	N	+	3	2	CFHR5	195234038	0.000000	0.05858	0.078000	0.20375	0.159000	0.22180	-0.986000	0.03747	-1.321000	0.02281	0.240000	0.17902	AAT		0.308	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2		NM_030787		10	29	0	0	0	0.013537	0	10	29		
ZP4	57829	broad.mit.edu	37	1	238048117	238048117	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:238048117G>T	ENST00000366570.4	-	10	1500	c.1342C>A	c.(1342-1344)Cag>Aag	p.Q448K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	448	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCAGCAGGCTGGCAGACTGAC	0.498																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NaN																	0				ovary(2)|skin(1)	3						c.(1342-1344)CAG>AAG		zona pellucida glycoprotein 4 preproprotein							81.0	69.0	73.0					1																	238048117		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048117G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1342C>A	1.37:g.238048117G>T	ENSP00000355529:p.Gln448Lys					LOC100130331_uc010pyc.1_Intron	p.Q448K	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		10	1342	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	448			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1342C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253371	0.39797	.	.	ENSG00000116996	ENST00000366570	D	0.81821	-1.54	5.08	5.08	0.68730	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.665589	0.15070	N	0.282291	T	0.77478	0.4136	L	0.55834	1.745	0.32084	N	0.592694	B	0.15141	0.012	B	0.18263	0.021	T	0.74144	-0.3760	10	0.22109	T	0.4	-7.0965	16.3283	0.82996	0.0:0.0:1.0:0.0	.	448	Q12836	ZP4_HUMAN	K	448	ENSP00000355529:Q448K	ENSP00000355529:Q448K	Q	-	1	0	ZP4	236114740	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	3.075000	0.50073	2.517000	0.84864	0.655000	0.94253	CAG		0.498	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1				9	23	1	0	2.74318e-10	0.006214	3.0175e-10	9	23		
OR2T12	127064	broad.mit.edu	37	1	248458286	248458286	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:248458286T>A	ENST00000317996.1	-	1	594	c.595A>T	c.(595-597)Atc>Ttc	p.I199F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACACAGCAGATGTACATGGCG	0.537																																						uc010pzj.1		NaN																	0				skin(2)|ovary(1)	3						c.(595-597)ATC>TTC		olfactory receptor, family 2, subfamily T,							50.0	40.0	43.0					1																	248458286		2201	4296	6497	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458286T>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.595A>T	1.37:g.248458286T>A	ENSP00000324583:p.Ile199Phe						p.I199F	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	595	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		199			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.595A>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	t	13.79	2.343447	0.41498	.	.	ENSG00000177201	ENST00000317996	T	0.00084	8.75	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.267421	0.20443	U	0.092260	T	0.00178	0.0005	L	0.38733	1.17	0.09310	N	1	D	0.64830	0.994	D	0.69654	0.965	T	0.53927	-0.8369	10	0.42905	T	0.14	.	1.2219	0.01926	0.205:0.429:0.2038:0.1622	.	199	Q8NG77	O2T12_HUMAN	F	199	ENSP00000324583:I199F	ENSP00000324583:I199F	I	-	1	0	OR2T12	246524909	0.000000	0.05858	0.074000	0.20217	0.295000	0.27426	-3.851000	0.00350	-0.308000	0.08792	0.147000	0.16070	ATC		0.537	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1		NM_001004692		15	79	0	0	0	0.004007	0	15	79		
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A	rs370636108		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr1:248685648G>A	ENST00000343414.4	+	1	733	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473																																						uc001ien.1		NaN																	0				ovary(2)|skin(1)	3						c.(700-702)CGC>CAC		olfactory receptor, family 2, subfamily G,		G	HIS/ARG	0,4406		0,0,2203	101.0	104.0	103.0		701	2.9	0.0	1		103	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	234/317	248685648	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685648G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.701G>A	1.37:g.248685648G>A	ENSP00000341291:p.Arg234His						p.R234H	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	701	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	234			Cytoplasmic (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.701G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.29	1.596315	0.28445	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00333	8.07	3.83	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	U	0.000372	T	0.00875	0.0029	M	0.91872	3.25	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.19128	-1.0315	10	0.87932	D	0	.	10.4637	0.44594	0.1003:0.0:0.8997:0.0	.	234	Q5TZ20	OR2G6_HUMAN	H	234	ENSP00000341291:R234H	ENSP00000341291:R234H	R	+	2	0	OR2G6	246752271	0.012000	0.17670	0.001000	0.08648	0.108000	0.19459	1.615000	0.36922	0.810000	0.34279	0.400000	0.26472	CGC		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1		XM_372842		21	58	0	0	0	0.008871	0	21	58		
SLC39A12	221074	broad.mit.edu	37	10	18292239	18292239	+	Silent	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:18292239C>A	ENST00000377369.2	+	12	2172	c.1899C>A	c.(1897-1899)atC>atA	p.I633I	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377371.3_Silent_p.I632I|SLC39A12_ENST00000539911.1_Silent_p.I499I|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Silent_p.I596I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	633					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGACTGGATCTTCACAGTCA	0.393																																						uc001ipo.2		NaN																	0				ovary(1)|breast(1)	2						c.(1897-1899)ATC>ATA		solute carrier family 39 (zinc transporter),							179.0	160.0	167.0					10																	18292239		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292239C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1899C>A	10.37:g.18292239C>A						SLC39A12_uc001ipn.2_Silent_p.I596I|SLC39A12_uc001ipp.2_Silent_p.I632I|SLC39A12_uc010qck.1_Silent_p.I499I|uc001ipq.1_RNA	p.I633I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			12	2172	+			633			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1899C>A	CCDS44362.1																																																																																				0.393	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_152725		93	112	1	0	1.13049e-35	0.01441	1.35514e-35	93	112		
WAPAL	23063	broad.mit.edu	37	10	88259960	88259960	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr10:88259960C>A	ENST00000298767.5	-	3	1512	c.1040G>T	c.(1039-1041)aGt>aTt	p.S347I		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	347	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CCCTCTAAAACTGGTCCCACA	0.463																																						uc001kdo.2		NaN																	0				ovary(1)	1						c.(1039-1041)AGT>ATT		wings apart-like homolog							189.0	160.0	170.0					10																	88259960		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88259960C>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1040G>T	10.37:g.88259960C>A	ENSP00000298767:p.Ser347Ile					WAPAL_uc001kdn.2_Missense_Mutation_p.S390I|WAPAL_uc009xsw.2_Missense_Mutation_p.S347I	p.S347I	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1482	-			347			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.1040G>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759737	0.69763	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.32515	1.45	5.77	5.77	0.91146	.	0.201913	0.47455	D	0.000227	T	0.41236	0.1150	L	0.44542	1.39	0.80722	D	1	P;P;D	0.59767	0.94;0.94;0.986	B;B;P	0.51016	0.36;0.36;0.656	T	0.14643	-1.0465	10	0.59425	D	0.04	.	19.9883	0.97356	0.0:1.0:0.0:0.0	.	347;347;390	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	I	432;347;432	ENSP00000298767:S347I	ENSP00000298767:S347I	S	-	2	0	WAPAL	88249940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.197000	0.51028	2.717000	0.92951	0.650000	0.86243	AGT		0.463	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2		NM_015045		45	48	1	0	7.88023e-25	0.01441	9.21002e-25	45	48		
OR51M1	390059	broad.mit.edu	37	11	5410829	5410829	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:5410829G>T	ENST00000328611.3	+	1	223	c.201G>T	c.(199-201)ctG>ctT	p.L67L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	67					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTCGTCTGCACACACCCA	0.463																																						uc010qzc.1		NaN																	0					0						c.(199-201)CTG>CTT		olfactory receptor, family 51, subfamily M,							161.0	150.0	153.0					11																	5410829		2045	4184	6229	SO:0001819	synonymous_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5410829G>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.201G>T	11.37:g.5410829G>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L67L	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	201	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	67					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.201G>T	CCDS53596.1																																																																																				0.463	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1		NM_001004756		20	75	1	0	1.33834e-09	0.007413	1.46356e-09	20	75		
DBX1	120237	broad.mit.edu	37	11	20178183	20178183	+	Intron	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:20178183C>T	ENST00000524983.2	-	4	961				DBX1_ENST00000227256.3_Silent_p.A242A			A6NMT0	DBX1_HUMAN	developing brain homeobox 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CTCCGGGGGACGCACGGGGGC	0.622																																						uc001mpw.1		NaN																	0				ovary(1)	1						c.(724-726)GCG>GCA		developing brain homeobox 1							27.0	37.0	34.0					11																	20178183		2198	4291	6489	SO:0001627	intron_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178183C>T			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.673-64G>A	11.37:g.20178183C>T							p.A242A	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			4	726	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Silent	SNP	ENST00000524983.2	37	c.726G>A																																																																																					0.622	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2		NM_001029865		19	18	0	0	0	0.007413	0	19	18		
OR4P4	81300	broad.mit.edu	37	11	55406051	55406051	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:55406051C>T	ENST00000314612.2	+	1	218	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGCTACACATCCACAGTGACC	0.398																																						uc010rij.1		NaN																	0				central_nervous_system(1)	1						c.(217-219)TCC>TTC		olfactory receptor, family 4, subfamily P,							153.0	131.0	139.0					11																	55406051		2179	4030	6209	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406051C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.218C>T	11.37:g.55406051C>T	ENSP00000324831:p.Ser73Phe						p.S73F	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	218	+			73			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.218C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	4.646	0.120029	0.08881	.	.	ENSG00000181927	ENST00000314612	T	0.00408	7.54	5.18	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.188271	0.26362	N	0.024802	T	0.00580	0.0019	M	0.79475	2.455	0.09310	N	1	B	0.18741	0.03	B	0.27262	0.078	T	0.32402	-0.9908	10	0.87932	D	0	-13.0065	12.4433	0.55637	0.0:0.9175:0.0:0.0825	.	73	Q8NGL7	OR4P4_HUMAN	F	73	ENSP00000324831:S73F	ENSP00000324831:S73F	S	+	2	0	OR4P4	55162627	0.015000	0.18098	0.012000	0.15200	0.000000	0.00434	2.276000	0.43408	1.172000	0.42781	-0.154000	0.13518	TCC		0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1		NM_001004124		49	99	0	0	0	0.01441	0	49	99		
OR5W2	390148	broad.mit.edu	37	11	55681672	55681672	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:55681672G>T	ENST00000344514.1	-	1	386	c.387C>A	c.(385-387)ccC>ccA	p.P129P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TATAGAGCAGGGGGTTGATGA	0.463																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NaN																	0				ovary(1)|skin(1)	2						c.(385-387)CCC>CCA		olfactory receptor, family 5, subfamily W,							73.0	71.0	71.0					11																	55681672		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681672G>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.387C>A	11.37:g.55681672G>T							p.P129P	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	387	-			129			Cytoplasmic (Potential).			Silent	SNP	ENST00000344514.1	37	c.387C>A	CCDS31513.1																																																																																				0.463	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1		NM_001001960		34	47	1	0	2.20262e-25	0.013726	2.5905e-25	34	47		
MPEG1	219972	broad.mit.edu	37	11	58979792	58979792	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:58979792C>G	ENST00000361050.3	-	1	632	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	183	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGGTTGTTCTCTAGACGGTCA	0.507																																						uc001nnu.3		NaN																	0				ovary(1)|skin(1)	2						c.(547-549)GAG>CAG		macrophage expressed gene 1 precursor							127.0	117.0	120.0					11																	58979792		1969	4142	6111	SO:0001583	missense	219972					integral to membrane		g.chr11:58979792C>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.547G>C	11.37:g.58979792C>G	ENSP00000354335:p.Glu183Gln						p.E183Q	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	703	-		all_epithelial(135;0.125)	183			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.547G>C	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575942	0.65878	.	.	ENSG00000197629	ENST00000361050	D	0.84442	-1.85	5.2	5.2	0.72013	Membrane attack complex component/perforin (MACPF) domain (3);	0.000000	0.85682	D	0.000000	D	0.89795	0.6818	L	0.56199	1.76	0.47511	D	0.999448	D	0.69078	0.997	D	0.67382	0.951	D	0.89855	0.4012	10	0.51188	T	0.08	-29.2395	15.721	0.77710	0.0:1.0:0.0:0.0	.	183	Q2M385	MPEG1_HUMAN	Q	183	ENSP00000354335:E183Q	ENSP00000354335:E183Q	E	-	1	0	MPEG1	58736368	1.000000	0.71417	0.995000	0.50966	0.857000	0.48899	7.087000	0.76893	2.453000	0.82957	0.644000	0.83932	GAG		0.507	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1		NM_001039396		36	90	0	0	0	0.004289	0	36	90		
RASGRP2	10235	broad.mit.edu	37	11	64494818	64494818	+	Nonsense_Mutation	SNP	C	C	A	rs375127966		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:64494818C>A	ENST00000354024.3	-	16	2038	c.1786G>T	c.(1786-1788)Gag>Tag	p.E596*	RASGRP2_ENST00000377497.3_Nonsense_Mutation_p.E596*|RASGRP2_ENST00000394432.3_Nonsense_Mutation_p.E596*|RASGRP2_ENST00000377494.1_Nonsense_Mutation_p.E597*	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	596					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTGTACCTCCTCCTCACGG	0.597																																						uc009ypu.2		NaN																	0					0						c.(1786-1788)GAG>TAG		RAS guanyl releasing protein 2							133.0	95.0	108.0					11																	64494818		2201	4297	6498	SO:0001587	stop_gained	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64494818C>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1786G>T	11.37:g.64494818C>A	ENSP00000338864:p.Glu596*					RASGRP2_uc001oat.2_Nonsense_Mutation_p.E499*|RASGRP2_uc001oau.2_Nonsense_Mutation_p.E452*|RASGRP2_uc009ypv.2_Nonsense_Mutation_p.E596*|RASGRP2_uc009ypw.2_Nonsense_Mutation_p.E596*	p.E596*	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			16	2013	-			596					A6NDC7|O00538|Q9UL65	Nonsense_Mutation	SNP	ENST00000354024.3	37	c.1786G>T	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	38	7.129581	0.98085	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	.	.	.	5.54	4.61	0.57282	.	0.304152	0.30043	N	0.010546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-29.4123	12.6285	0.56644	0.0:0.8336:0.1664:0.0	.	.	.	.	X	597;596;596;596	.	ENSP00000338864:E596X	E	-	1	0	RASGRP2	64251394	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.342000	0.52159	1.447000	0.47661	0.561000	0.74099	GAG		0.597	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1		NM_153819		9	49	1	0	3.09899e-07	0.004482	3.36925e-07	9	49		
PYGM	5837	broad.mit.edu	37	11	64519519	64519519	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:64519519A>G	ENST00000164139.3	-	14	2043	c.1645T>C	c.(1645-1647)Tac>Cac	p.Y549H	PYGM_ENST00000377432.3_Missense_Mutation_p.Y461H|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	549					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCTCTAGGTAGGCAGCAAAC	0.517																																						uc001oax.3		NaN																	0				ovary(2)	2						c.(1645-1647)TAC>CAC		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						197.0	167.0	177.0					11																	64519519		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519519A>G		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1645T>C	11.37:g.64519519A>G	ENSP00000164139:p.Tyr549His					PYGM_uc001oay.3_Missense_Mutation_p.Y461H	p.Y549H	NM_005609	NP_005600	P11217	PYGM_HUMAN			14	2462	-			549					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1645T>C	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293933	0.40594	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94650	-3.48;-3.48	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000092	D	0.92727	0.7688	L	0.55103	1.725	0.52501	D	0.999955	B;B	0.12630	0.005;0.006	B;B	0.26614	0.071;0.041	D	0.89572	0.3814	10	0.40728	T	0.16	-26.2519	13.9364	0.64027	1.0:0.0:0.0:0.0	.	461;549	A6NDY6;P11217	.;PYGM_HUMAN	H	461;549;530	ENSP00000366650:Y461H;ENSP00000164139:Y549H	ENSP00000164139:Y549H	Y	-	1	0	PYGM	64276095	1.000000	0.71417	0.909000	0.35828	0.777000	0.43975	5.110000	0.64622	2.179000	0.69175	0.459000	0.35465	TAC		0.517	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2		NM_005609		50	118	0	0	0	0.01441	0	50	118		
PCNXL3	399909	broad.mit.edu	37	11	65392689	65392689	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:65392689T>C	ENST00000355703.3	+	17	3506	c.2967T>C	c.(2965-2967)tgT>tgC	p.C989C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	989						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGTCTTCTGTGGCCTCCTGG	0.642																																						uc001oey.2		NaN																	0					0						c.(2965-2967)TGT>TGC		pecanex-like 3							45.0	48.0	47.0					11																	65392689		2198	4294	6492	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65392689T>C	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2967T>C	11.37:g.65392689T>C						PCNXL3_uc009yqn.2_5'UTR|PCNXL3_uc001oez.2_5'Flank	p.C989C	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			17	2967	+			989			Helical; (Potential).		Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.2967T>C	CCDS44650.1																																																																																				0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223		7	16	0	0	0	0.004482	0	7	16		
BUD13	84811	broad.mit.edu	37	11	116628530	116628531	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:116628530_116628531CC>AA	ENST00000260210.4	-	8	1658_1659	c.1635_1636GG>TT	c.(1633-1638)atGGcc>atTTcc	p.545_546MA>IS	BUD13_ENST00000375445.3_Missense_Mutation_p.411_412MA>IS	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	545					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGAAGTTGGCCATAGGGTCCC	0.45																																						uc001ppn.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(1633-1638)ATGGCC>ATTTCC		BUD13 homolog isoform 1																																				SO:0001583	missense	84811							g.chr11:116628530_116628531CC>AA	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1635_1636delinsAA	11.37:g.116628530_116628531delinsAA	ENSP00000260210:p.M545_A546delinsIS					BUD13_uc001ppo.2_Missense_Mutation_p.411_412MA>IS	p.545_546MA>IS	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	8	1669_1670	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	545_546					A8K0S0|Q96LS7	Missense_Mutation	DNP	ENST00000260210.4	37	c.1635_1636GG>TT	CCDS8374.1																																																																																				0.450	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1		NM_032725		89	153	0	0	0	0.004672	0	89	153		
OPCML	4978	broad.mit.edu	37	11	132307139	132307139	+	Missense_Mutation	SNP	C	C	T	rs375421247		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:132307139C>T	ENST00000331898.7	-	4	1219	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	OPCML_ENST00000374778.4_Missense_Mutation_p.R173Q|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R207Q|OPCML_ENST00000541867.1_Missense_Mutation_p.R214Q	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	214	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.R207P(1)|p.R214P(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TTTTACTTTCCGCACATCGGG	0.542																																						uc001qgs.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(640-642)CGG>CAG		opioid binding protein/cell adhesion		C	GLN/ARG,GLN/ARG	0,4402		0,0,2201	130.0	118.0	122.0		620,641	5.9	1.0	11		122	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	OPCML	NM_001012393.1,NM_002545.3	43,43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	207/339,214/346	132307139	1,12995	2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307139C>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.641G>A	11.37:g.132307139C>T	ENSP00000330862:p.Arg214Gln					OPCML_uc001qgu.2_Missense_Mutation_p.R207Q|OPCML_uc010sck.1_Missense_Mutation_p.R214Q|OPCML_uc001qgt.2_Missense_Mutation_p.R213Q|OPCML_uc010scl.1_Missense_Mutation_p.R173Q	p.R214Q	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	691	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	214			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.641G>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337872	0.95758	0.0	1.16E-4	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.58940	0.31;0.3;1.1;1.1	5.95	5.95	0.96441	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	L	0.45581	1.43	0.80722	D	1	P;P;P;P	0.49253	0.921;0.921;0.921;0.921	P;P;P;P	0.49853	0.474;0.624;0.474;0.474	T	0.58451	-0.7634	10	0.37606	T	0.19	-20.1115	19.9958	0.97383	0.0:1.0:0.0:0.0	.	214;207;213;214	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	Q	214;207;173;181;214	ENSP00000330862:R214Q;ENSP00000434750:R207Q;ENSP00000363910:R173Q;ENSP00000445496:R214Q	ENSP00000330862:R214Q	R	-	2	0	OPCML	131812349	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.487000	0.81328	2.825000	0.97269	0.655000	0.94253	CGG		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3		NM_001012393		16	68	0	0	0	0.008871	0	16	68		
ABCD2	225	broad.mit.edu	37	12	40013068	40013068	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:40013068C>T	ENST00000308666.3	-	1	485	c.350G>A	c.(349-351)aGa>aAa	p.R117K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	117	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R117T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAAAGGTTCTTGAGATTAG	0.413																																						uc001rmb.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(349-351)AGA>AAA		ATP-binding cassette, sub-family D, member 2							78.0	80.0	79.0					12																	40013068		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40013068C>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.350G>A	12.37:g.40013068C>T	ENSP00000310688:p.Arg117Lys						p.R117K	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			1	776	-			117			ABC transmembrane type-1.|Interaction with PEX19.|Helical; (Potential).		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.350G>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514422	0.85389	.	.	ENSG00000173208	ENST00000308666	D	0.99724	-6.54	4.83	4.83	0.62350	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.96720	3.87	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.96640	0.9473	9	.	.	.	-19.1669	18.1418	0.89642	0.0:1.0:0.0:0.0	.	117	Q9UBJ2	ABCD2_HUMAN	K	117	ENSP00000310688:R117K	.	R	-	2	0	ABCD2	38299335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.182000	0.77689	2.507000	0.84556	0.655000	0.94253	AGA		0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1		NM_005164		23	62	0	0	0	0.012319	0	23	62		
KSR2	283455	broad.mit.edu	37	12	117914394	117914394	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:117914394C>T	ENST00000339824.5	-	17	3184	c.2457G>A	c.(2455-2457)gaG>gaA	p.E819E	KSR2_ENST00000425217.1_Silent_p.E790E|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	819	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGTTTGTCCTCCCGCCTGG	0.602																																						uc001two.2		NaN																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(2368-2370)GAG>GAA		kinase suppressor of ras 2							50.0	59.0	56.0					12																	117914394		2062	4222	6284	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117914394C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2457G>A	12.37:g.117914394C>T							p.E790E	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			17	2425	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		819			Protein kinase.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.2370G>A																																																																																					0.602	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2		NM_173598		3	7	0	0	0	0.009096	0	3	7		
CLIP1	6249	broad.mit.edu	37	12	122818658	122818658	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:122818658C>T	ENST00000540338.1	-	13	2668		c.e13-1		CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site|CLIP1_ENST00000358808.2_Splice_Site			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTACAGTTTCTATTTAGGAT	0.343																																						uc001ucg.1		NaN																	0				ovary(2)|breast(1)	3						c.e13-1		restin isoform a							90.0	80.0	83.0					12																	122818658		2203	4300	6503	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122818658C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2627-1G>A	12.37:g.122818658C>T						CLIP1_uc001uch.1_Splice_Site_p.E865_splice|CLIP1_uc001uci.1_Splice_Site_p.E830_splice|CLIP1_uc001ucj.1_Splice_Site_p.E451_splice	p.E876_splice	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	13	2733	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							A0AVD3|Q17RS4|Q29RG0	Splice_Site	SNP	ENST00000540338.1	37	c.2627_splice	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271261	0.80469	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5197	0.95180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIP1	121384611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.059000	0.64306	2.608000	0.88229	0.561000	0.74099	.		0.343	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	Intron	5	17	0	0	0	0.000602	0	5	17		
DNAH10	196385	broad.mit.edu	37	12	124265822	124265822	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:124265822C>G	ENST00000409039.3	+	6	659	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	212	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGTAATATTCAAAGAACCAT	0.388																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(634-636)CAA>GAA		dynein, axonemal, heavy chain 10							117.0	124.0	122.0					12																	124265822		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124265822C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.634C>G	12.37:g.124265822C>G	ENSP00000386770:p.Gln212Glu						p.Q212E	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	6	659	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		212			Stem (By similarity).|Potential.		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.634C>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093033	0.01858	.	.	ENSG00000197653	ENST00000409039	T	0.20598	2.06	5.15	5.15	0.70609	.	0.335925	0.23813	U	0.044309	T	0.19287	0.0463	L	0.47716	1.5	0.24736	N	0.993067	B	0.09022	0.002	B	0.10450	0.005	T	0.37314	-0.9711	10	0.02654	T	1	.	18.293	0.90136	0.0:1.0:0.0:0.0	.	212	Q8IVF4	DYH10_HUMAN	E	212	ENSP00000386770:Q212E	ENSP00000386770:Q212E	Q	+	1	0	DNAH10	122831775	1.000000	0.71417	0.972000	0.41901	0.412000	0.31113	3.048000	0.49862	2.407000	0.81776	0.436000	0.28706	CAA		0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				68	100	0	0	0	0.01441	0	68	100		
DNAH10	196385	broad.mit.edu	37	12	124359912	124359912	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:124359912G>A	ENST00000409039.3	+	46	7744	c.7719G>A	c.(7717-7719)aaG>aaA	p.K2573K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2573	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAATGGGAAAGGCTGGAGGAG	0.438																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(7717-7719)AAG>AAA		dynein, axonemal, heavy chain 10							100.0	95.0	96.0					12																	124359912		1934	4139	6073	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124359912G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7719G>A	12.37:g.124359912G>A							p.K2573K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	46	7744	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2573			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.7719G>A	CCDS9255.2																																																																																				0.438	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				7	32	0	0	0	0.001984	0	7	32		
ARHGEF7	8874	broad.mit.edu	37	13	111929950	111929950	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr13:111929950A>C	ENST00000375741.2	+	14	1749	c.1499A>C	c.(1498-1500)tAt>tCt	p.Y500S	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y407S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y244S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y450S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y322S|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.Y156S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y479S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y397S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	500	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AATGAAAGATATCTTCTACTC	0.279																																						uc001vrs.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1498-1500)TAT>TCT		PAK-interacting exchange factor beta isoform c							106.0	107.0	107.0					13																	111929950		2203	4299	6502	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111929950A>C	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1499A>C	13.37:g.111929950A>C	ENSP00000364893:p.Tyr500Ser					ARHGEF7_uc001vrr.2_Missense_Mutation_p.Y479S|ARHGEF7_uc001vrt.2_Missense_Mutation_p.Y450S|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrv.3_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrw.3_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrx.3_Missense_Mutation_p.Y322S|ARHGEF7_uc010tjo.1_Missense_Mutation_p.Y397S|ARHGEF7_uc010tjp.1_Missense_Mutation_p.Y244S	p.Y500S	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		14	1749	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		500			PH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.1499A>C	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228893	0.58777	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000544132;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;0.72;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.11	5.11	0.69529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90837	0.7122	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.998;0.989;0.999;0.999	D	0.92205	0.5771	10	0.56958	D	0.05	.	14.9377	0.70970	1.0:0.0:0.0:0.0	.	244;397;450;500;479	E9PDQ5;B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	S	479;500;450;407;477;322;156;322;322;322;397;322;244	ENSP00000325994:Y479S;ENSP00000364893:Y500S;ENSP00000364891:Y450S;ENSP00000359657:Y407S;ENSP00000418067:Y322S;ENSP00000445384:Y156S;ENSP00000218789:Y322S;ENSP00000364888:Y322S;ENSP00000397068:Y322S;ENSP00000364889:Y397S;ENSP00000364875:Y322S;ENSP00000417596:Y244S	ENSP00000218789:Y322S	Y	+	2	0	ARHGEF7	110727951	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	8.808000	0.91939	1.928000	0.55862	0.533000	0.62120	TAT		0.279	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113511		25	44	0	0	0	0.004656	0	25	44		
OR4M1	441670	broad.mit.edu	37	14	20249177	20249177	+	Silent	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:20249177T>A	ENST00000315957.4	+	1	777	c.696T>A	c.(694-696)ggT>ggA	p.G232G		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	232			G -> D (in dbSNP:rs2815960).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGCTCAGGTGAGAATACCA	0.463																																						uc010tku.1		NaN																	0					0						c.(694-696)GGT>GGA		olfactory receptor, family 4, subfamily M,							349.0	297.0	315.0					14																	20249177		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249177T>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.696T>A	14.37:g.20249177T>A							p.G232G	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	696	+	all_cancers(95;0.00108)		232			Cytoplasmic (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.696T>A	CCDS32021.1																																																																																				0.463	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1				61	167	0	0	0	0.01441	0	61	167		
NUBPL	80224	broad.mit.edu	37	14	32315779	32315779	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:32315779C>T	ENST00000281081.7	+	9	841	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	NUBPL_ENST00000536705.1_Missense_Mutation_p.L170F|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	266					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AGCACAGACCCTTGGTCTTGA	0.428																																						uc001wrk.3		NaN																	0					0						c.(796-798)CTT>TTT		nucleotide binding protein-like							92.0	87.0	89.0					14																	32315779		1915	4121	6036	SO:0001583	missense	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32315779C>T	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.796C>T	14.37:g.32315779C>T	ENSP00000281081:p.Leu266Phe					NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Missense_Mutation_p.L170F	p.L266F	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	9	851	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		266					B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	c.796C>T	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152902	0.38021	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000536705	T;T;T	0.54071	0.59;0.85;0.85	5.56	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	L	0.52266	1.64	0.49130	D	0.99975	P;D	0.58970	0.737;0.984	B;P	0.57960	0.374;0.83	T	0.55921	-0.8064	10	0.44086	T	0.13	-31.3051	7.541	0.27737	0.0:0.8235:0.0:0.1765	.	170;266	B4DWB0;Q8TB37	.;NUBPL_HUMAN	F	132;266;170	ENSP00000447618:L132F;ENSP00000281081:L266F;ENSP00000439286:L170F	ENSP00000281081:L266F	L	+	1	0	NUBPL	31385530	0.983000	0.35010	1.000000	0.80357	0.655000	0.38815	2.210000	0.42816	2.621000	0.88768	0.655000	0.94253	CTT		0.428	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1		NM_025152		6	12	0	0	0	0.001168	0	6	12		
STOML1	9399	broad.mit.edu	37	15	74281034	74281034	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr15:74281034C>T	ENST00000316900.5	-	4	624	c.500G>A	c.(499-501)cGc>cAc	p.R167H	STOML1_ENST00000561656.1_Missense_Mutation_p.R80H|STOML1_ENST00000359750.4_Missense_Mutation_p.R167H|STOML1_ENST00000316911.6_Missense_Mutation_p.R117H|STOML1_ENST00000564777.1_Missense_Mutation_p.R117H|STOML1_ENST00000541638.1_Missense_Mutation_p.R125H	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	167						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GGCTGTCATGCGTGTGGCTGT	0.602																																						uc002awe.2		NaN																	0				skin(1)	1						c.(499-501)CGC>CAC		stomatin (EPB72)-like 1							120.0	106.0	111.0					15																	74281034		2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74281034C>T	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.500G>A	15.37:g.74281034C>T	ENSP00000319323:p.Arg167His					STOML1_uc002awf.2_Missense_Mutation_p.R167H|STOML1_uc010bje.2_Missense_Mutation_p.R167H|STOML1_uc010uld.1_Missense_Mutation_p.R125H|STOML1_uc002awh.2_Missense_Mutation_p.R117H|STOML1_uc002awg.2_Missense_Mutation_p.R117H|STOML1_uc002awi.2_Missense_Mutation_p.R80H	p.R167H	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN			4	571	-			167			Cytoplasmic (Potential).		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.500G>A	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839000	0.91117	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	4.2	4.2	0.49525	.	0.102220	0.64402	D	0.000004	D	0.97604	0.9215	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.997;0.997	D	0.98427	1.0580	10	0.87932	D	0	-17.6068	15.2955	0.73902	0.0:1.0:0.0:0.0	.	125;167;117;167;167;167	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	H	167;117;125;167	ENSP00000319323:R167H;ENSP00000319384:R117H;ENSP00000442478:R125H;ENSP00000352788:R167H	ENSP00000319323:R167H	R	-	2	0	STOML1	72068087	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.634000	0.74290	2.162000	0.67917	0.655000	0.94253	CGC		0.602	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1		NM_004809		43	34	0	0	0	0.007835	0	43	34		
SRRM2	23524	broad.mit.edu	37	16	2813316	2813316	+	Silent	SNP	C	C	T	rs137907192	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:2813316C>T	ENST00000301740.8	+	11	3336	c.2787C>T	c.(2785-2787)agC>agT	p.S929S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	929	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACAAAGAAGCCATTCTGGCT	0.493													C|||	5	0.000998403	0.0008	0.0	5008	,	,		21150	0.0		0.004	False		,,,				2504	0.0					uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2785-2787)AGC>AGT		splicing coactivator subunit SRm300		C		6,4390	11.4+/-27.6	0,6,2192	81.0	76.0	78.0		2787	1.6	1.0	16	dbSNP_134	78	41,8559	27.4+/-76.7	0,41,4259	no	coding-synonymous	SRRM2	NM_016333.3		0,47,6451	TT,TC,CC		0.4767,0.1365,0.3616		929/2753	2813316	47,12949	2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813316C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2787C>T	16.37:g.2813316C>T						SRRM2_uc002crj.1_Silent_p.S833S|SRRM2_uc002crl.1_Silent_p.S929S|SRRM2_uc010bsu.1_Silent_p.S833S	p.S929S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	3336	+			929			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.2787C>T	CCDS32373.1																																																																																				0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				6	93	0	0	0	0.001984	0	6	93		
RBFOX1	54715	broad.mit.edu	37	16	7645613	7645613	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:7645613C>T	ENST00000550418.1	+	8	1519	c.531C>T	c.(529-531)caC>caT	p.H177H	RBFOX1_ENST00000553186.1_Silent_p.H177H|RBFOX1_ENST00000436368.2_Silent_p.H197H|RBFOX1_ENST00000311745.5_Silent_p.H197H|RBFOX1_ENST00000552089.1_Silent_p.H194H|RBFOX1_ENST00000422070.4_Silent_p.H220H|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000340209.4_Silent_p.H182H|RBFOX1_ENST00000547338.1_Silent_p.H177H|RBFOX1_ENST00000547372.1_Silent_p.H220H|RBFOX1_ENST00000355637.4_Silent_p.H197H	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	177	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGAAATTACACGGCACCGTGG	0.448																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2		NaN																	0					0						c.(529-531)CAC>CAT		ataxin 2-binding protein 1 isoform 4							177.0	157.0	164.0					16																	7645613		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645613C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.531C>T	16.37:g.7645613C>T						A2BP1_uc010buf.1_Silent_p.H177H|A2BP1_uc002cyr.1_Silent_p.H176H|A2BP1_uc002cyt.2_Silent_p.H177H|A2BP1_uc010uxz.1_Silent_p.H220H|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.H177H|A2BP1_uc010uyb.1_Silent_p.H177H|A2BP1_uc002cyw.2_Silent_p.H197H|A2BP1_uc002cyy.2_Silent_p.H197H|A2BP1_uc002cyx.2_Silent_p.H197H|A2BP1_uc010uyc.1_Silent_p.H197H	p.H177H	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	8	1519	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	177			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.531C>T	CCDS55983.1																																																																																				0.448	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2		NM_145891		23	92	0	0	0	0.00333	0	23	92		
DNAH3	55567	broad.mit.edu	37	16	21061283	21061283	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:21061283C>T	ENST00000261383.3	-	30	4294	c.4295G>A	c.(4294-4296)gGg>gAg	p.G1432E	DNAH3_ENST00000415178.1_Missense_Mutation_p.G1432E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1432	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|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)		CTTGCCAGTCCCAGCTGGACC	0.522																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(4294-4296)GGG>GAG		dynein, axonemal, heavy chain 3							193.0	172.0	179.0					16																	21061283		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.chr16:21061283C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4295G>A	16.37:g.21061283C>T	ENSP00000261383:p.Gly1432Glu						p.G1432E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	30	4295	-			1432			ATP (Potential).|AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4295G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287476	0.95517	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	D;D	0.90620	-2.7;-2.7	5.92	5.92	0.95590	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	1432	Q8TD57	DYH3_HUMAN	E	1432	ENSP00000261383:G1432E;ENSP00000394245:G1432E	ENSP00000261383:G1432E	G	-	2	0	DNAH3	20968784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.704000	0.84595	2.818000	0.97014	0.655000	0.94253	GGG		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		13	67	0	0	0	0.001855	0	13	67		
SHCBP1	79801	broad.mit.edu	37	16	46638001	46638001	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:46638001G>T	ENST00000303383.3	-	7	1244	c.978C>A	c.(976-978)tcC>tcA	p.S326S		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	326					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCTGACCGCTGGAACGGACAC	0.493																																						uc002eec.3		NaN																	0				ovary(1)|breast(1)	2						c.(976-978)TCC>TCA		SHC SH2-domain binding protein 1							111.0	106.0	108.0					16																	46638001		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46638001G>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.978C>A	16.37:g.46638001G>T							p.S326S	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			7	1018	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	326					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.978C>A	CCDS10720.1																																																																																				0.493	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1		NM_024745		25	92	1	0	4.4004e-07	0.00333	4.72917e-07	25	92		
CNOT1	23019	broad.mit.edu	37	16	58620581	58620581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:58620581G>A	ENST00000317147.5	-	7	837	c.505C>T	c.(505-507)Caa>Taa	p.Q169*	CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q169*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q169*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	169					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACCTTCTTGATTTCCACTG	0.473																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(505-507)CAA>TAA		CCR4-NOT transcription complex, subunit 1							274.0	277.0	276.0					16																	58620581		2198	4300	6498	SO:0001587	stop_gained	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58620581G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.505C>T	16.37:g.58620581G>A	ENSP00000320949:p.Gln169*					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q169*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q169*|CNOT1_uc002enz.1_Intron	p.Q169*	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	7	798	-			169					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	ENST00000317147.5	37	c.505C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	39	7.598376	0.98381	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.878	0.92346	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	.	Q	-	1	0	CNOT1	57178082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.524000	0.85096	0.555000	0.69702	CAA		0.473	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		119	165	0	0	0	0.01441	0	119	165		
WWOX	51741	broad.mit.edu	37	16	78198152	78198152	+	Missense_Mutation	SNP	C	C	T	rs369055872		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr16:78198152C>T	ENST00000566780.1	+	5	848	c.482C>T	c.(481-483)gCg>gTg	p.A161V	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000355860.3_Missense_Mutation_p.A161V|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000408984.3_Missense_Mutation_p.A161V|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Missense_Mutation_p.A161V	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	161	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATGGCAAGGGCGAGTGAAGCA	0.448																																						uc002ffk.2		NaN																	0					0						c.(481-483)GCG>GTG		WW domain-containing oxidoreductase isoform 1		C	VAL/ALA,VAL/ALA	1,3945		0,1,1972	146.0	147.0	147.0		482,482	5.6	1.0	16		147	1,8305		0,1,4152	no	missense,missense	WWOX	NM_016373.2,NM_130791.2	64,64	0,2,6124	TT,TC,CC		0.012,0.0253,0.0163	probably-damaging,probably-damaging	161/415,161/190	78198152	2,12250	1973	4153	6126	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78198152C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.482C>T	16.37:g.78198152C>T	ENSP00000457230:p.Ala161Val					WWOX_uc010vnk.1_Missense_Mutation_p.A48V|WWOX_uc002ffl.2_Missense_Mutation_p.A161V|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.A161V	p.A161V	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	5	607	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	161			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.482C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119593	0.77323	2.53E-4	1.2E-4	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000406884;ENST00000299644	T;T;T	0.53857	1.86;0.6;0.6	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.066127	0.64402	D	0.000014	T	0.63355	0.2504	L	0.59912	1.85	0.44366	D	0.997269	D;P;D	0.71674	0.998;0.875;0.967	P;P;P	0.56343	0.796;0.55;0.578	T	0.66380	-0.5938	10	0.87932	D	0	.	14.0047	0.64456	0.0:0.8481:0.1518:0.0	.	161;161;161	Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;WWOX_HUMAN;.	V	161;161;161;4	ENSP00000386161:A161V;ENSP00000348119:A161V;ENSP00000384495:A161V	ENSP00000299644:A4V	A	+	2	0	WWOX	76755653	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	3.050000	0.49877	2.623000	0.88846	0.655000	0.94253	GCG		0.448	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1				4	28	0	0	0	0.000602	0	4	28		
SMYD4	114826	broad.mit.edu	37	17	1690224	1690224	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:1690224C>A	ENST00000305513.7	-	7	1931	c.1764G>T	c.(1762-1764)aaG>aaT	p.K588N		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	588							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GAGACCTCAGCTTCTGCTGCC	0.542																																						uc002ftm.3		NaN																	0				skin(3)|kidney(2)	5						c.(1762-1764)AAG>AAT		SET and MYND domain containing 4							60.0	51.0	54.0					17																	1690224		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1690224C>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1764G>T	17.37:g.1690224C>A	ENSP00000304360:p.Lys588Asn					SMYD4_uc002ftn.1_Missense_Mutation_p.K443N	p.K588N	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			7	1932	-			588					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.1764G>T	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844480	0.51164	.	.	ENSG00000186532	ENST00000305513	T	0.80566	-1.39	5.71	3.73	0.42828	.	0.183913	0.46442	D	0.000281	T	0.75781	0.3896	M	0.70595	2.14	0.25516	N	0.98742	P	0.40000	0.698	B	0.37888	0.26	T	0.63435	-0.6638	10	0.19147	T	0.46	-22.9787	10.1468	0.42769	0.0:0.8427:0.0:0.1573	.	588	Q8IYR2	SMYD4_HUMAN	N	588	ENSP00000304360:K588N	ENSP00000304360:K588N	K	-	3	2	SMYD4	1636974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.530000	0.36007	0.781000	0.33589	-0.150000	0.13652	AAG		0.542	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4		XM_056082		13	18	1	0	1.49906e-05	0.00245	1.55736e-05	13	18		
CCDC42	146849	broad.mit.edu	37	17	8638796	8638796	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:8638796T>C	ENST00000293845.3	-	5	852	c.626A>G	c.(625-627)gAa>gGa	p.E209G	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	209										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ATCATCCTTTTCCTCCATGTA	0.602																																						uc002gln.2		NaN																	0				ovary(1)	1						c.(625-627)GAA>GGA		coiled-coil domain containing 42 isoform 1							65.0	60.0	62.0					17																	8638796		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638796T>C	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.626A>G	17.37:g.8638796T>C	ENSP00000293845:p.Glu209Gly					CCDC42_uc002glo.2_Intron	p.E209G	NM_144681	NP_653282	Q96M95	CCD42_HUMAN			5	853	-			209	Missing (in Ref. 2; AAH29224).		Potential.		Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.626A>G	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948299	0.53186	.	.	ENSG00000161973	ENST00000293845	T	0.28454	1.61	5.51	5.51	0.81932	.	0.260880	0.29009	N	0.013434	T	0.48484	0.1502	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.40040	-0.9584	10	0.48119	T	0.1	-41.4527	14.7432	0.69472	0.0:0.0:0.0:1.0	.	209	Q96M95	CCD42_HUMAN	G	209	ENSP00000293845:E209G	ENSP00000293845:E209G	E	-	2	0	CCDC42	8579521	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.496000	0.66918	2.313000	0.78055	0.455000	0.32223	GAA		0.602	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1		NM_144681		8	35	0	0	0	0.00308	0	8	35		
BRIP1	83990	broad.mit.edu	37	17	59821938	59821938	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr17:59821938T>C	ENST00000259008.2	-	15	2379	c.2112A>G	c.(2110-2112)ttA>ttG	p.L704L	BRIP1_ENST00000577598.1_Silent_p.L704L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	704					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AACGTTCTTTTAATTTTTCTA	0.343			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(2110-2112)TTA>TTG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							93.0	100.0	97.0					17																	59821938		2203	4300	6503	SO:0001819	synonymous_variant	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59821938T>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2112A>G	17.37:g.59821938T>C						BRIP1_uc002izl.1_Silent_p.L85L	p.L704L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			15	2253	-			704					Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.2112A>G	CCDS11631.1																																																																																				0.343	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		66	108	0	0	0	0.01441	0	66	108		
PTPN2	5771	broad.mit.edu	37	18	12794331	12794331	+	Silent	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:12794331A>T	ENST00000309660.5	-	9	1287	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000591497.1_Silent_p.I369I|PTPN2_ENST00000591115.1_Intron	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	398	Endoplasmic reticulum location.|Mediates interaction with STX17.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CGCCAACCAAAATGACTGACA	0.398																																						uc002krp.2		NaN																	0				skin(2)	2						c.(1192-1194)ATT>ATA		protein tyrosine phosphatase, non-receptor type							161.0	132.0	142.0					18																	12794331		2203	4300	6503	SO:0001819	synonymous_variant	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12794331A>T	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.1194T>A	18.37:g.12794331A>T						PTPN2_uc002krl.2_Intron|PTPN2_uc002krn.2_Intron|PTPN2_uc002kro.2_Intron|PTPN2_uc002krm.2_Intron	p.I398I	NM_002828	NP_002819	P17706	PTN2_HUMAN			9	1388	-		Lung NSC(161;8.94e-06)	398					A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Silent	SNP	ENST00000309660.5	37	c.1194T>A	CCDS11865.1																																																																																				0.398	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3		NM_002828, NM_080422, NM_080423		20	79	0	0	0	0.012319	0	20	79		
WDR7	23335	broad.mit.edu	37	18	54694285	54694285	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:54694285G>A	ENST00000254442.3	+	28	4531	c.4320G>A	c.(4318-4320)caG>caA	p.Q1440Q	WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000589935.1_Silent_p.Q17Q|WDR7_ENST00000357574.3_Silent_p.Q1407Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1440					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGGCACCTCAGCTGCGCTGCA	0.607																																						uc002lgk.1		NaN																	0				ovary(2)|skin(1)	3						c.(4318-4320)CAG>CAA		rabconnectin-3 beta isoform 1							77.0	74.0	75.0					18																	54694285		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54694285G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4320G>A	18.37:g.54694285G>A						WDR7_uc002lgl.1_Silent_p.Q1407Q	p.Q1440Q	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	28	4531	+			1440					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.4320G>A	CCDS11962.1																																																																																				0.607	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1				41	32	0	0	0	0.007835	0	41	32		
GALR1	2587	broad.mit.edu	37	18	74980672	74980672	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr18:74980672C>T	ENST00000299727.3	+	3	864	c.864C>T	c.(862-864)gcC>gcT	p.A288A		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	288					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GAATCACCGCCCACTGCCTGG	0.493																																						uc002lms.3		NaN																	0				lung(1)	1						c.(862-864)GCC>GCT		galanin receptor 1							89.0	89.0	89.0					18																	74980672		2203	4300	6503	SO:0001819	synonymous_variant	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980672C>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.864C>T	18.37:g.74980672C>T							p.A288A	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	1361	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	288			Helical; Name=7; (Potential).		Q4VBL7	Silent	SNP	ENST00000299727.3	37	c.864C>T	CCDS12012.1																																																																																				0.493	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1				49	28	0	0	0	0.01441	0	49	28		
AP3D1	8943	broad.mit.edu	37	19	2121015	2121015	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:2121015C>A	ENST00000345016.5	-	14	1558	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Missense_Mutation_p.D352Y|AP3D1_ENST00000355272.6_Missense_Mutation_p.D443Y|AP3D1_ENST00000350812.6_Missense_Mutation_p.D274Y	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	443					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGCCACGTCCAGCATTTGG	0.652																																						uc002luz.2		NaN																	0					0						c.(1327-1329)GAC>TAC		adaptor-related protein complex 3, delta 1							63.0	71.0	68.0					19																	2121015		2184	4280	6464	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121015C>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1327G>T	19.37:g.2121015C>A	ENSP00000344055:p.Asp443Tyr					AP3D1_uc002luy.2_Missense_Mutation_p.D352Y|AP3D1_uc002lva.2_Missense_Mutation_p.D443Y	p.D443Y	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1550	-		Hepatocellular(1079;0.137)	443			HEAT 9.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1327G>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492024	0.84962	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.57	4.57	0.56435	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.977;0.998;0.997	T	0.79897	-0.1609	10	0.87932	D	0	-22.7769	16.3169	0.82931	0.0:1.0:0.0:0.0	.	443;443;352	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	Y	352;443;443;443;274	ENSP00000349398:D352Y;ENSP00000344055:D443Y;ENSP00000347416:D443Y;ENSP00000342321:D274Y	ENSP00000341579:D443Y	D	-	1	0	AP3D1	2072015	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	7.641000	0.83368	2.103000	0.63969	0.462000	0.41574	GAC		0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1				12	50	1	0	4.3838e-07	0.001855	4.72917e-07	12	50		
FBN3	84467	broad.mit.edu	37	19	8161817	8161817	+	Silent	SNP	G	G	A	rs138081025		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:8161817G>A	ENST00000600128.1	-	43	5775	c.5361C>T	c.(5359-5361)taC>taT	p.Y1787Y	FBN3_ENST00000601739.1_Silent_p.Y1787Y|FBN3_ENST00000270509.2_Silent_p.Y1787Y			Q75N90	FBN3_HUMAN	fibrillin 3	1787	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACTTGCAGCGGTAGCTACCGG	0.607																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(5359-5361)TAC>TAT		fibrillin 3 precursor							76.0	70.0	72.0					19																	8161817		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8161817G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5361C>T	19.37:g.8161817G>A							p.Y1787Y	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			42	5382	-			1787			EGF-like 27; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.5361C>T	CCDS12196.1																																																																																				0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447		25	55	0	0	0	0.00278	0	25	55		
GATAD2A	54815	broad.mit.edu	37	19	19612809	19612809	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:19612809G>A	ENST00000360315.3	+	10	1844	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	GATAD2A_ENST00000404158.1_Missense_Mutation_p.R512H|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R140H|GATAD2A_ENST00000252577.5_Intron|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R511H	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	511					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TTGGCGTTCCGCTCAGGAGAG	0.667																																						uc010xqt.1		NaN																	0					0						c.(1531-1533)CGC>CAC		GATA zinc finger domain containing 2A							59.0	61.0	60.0					19																	19612809		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19612809G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1532G>A	19.37:g.19612809G>A	ENSP00000353463:p.Arg511His					GATAD2A_uc010xqu.1_Missense_Mutation_p.R140H|GATAD2A_uc010xqv.1_Missense_Mutation_p.R531H|GATAD2A_uc010xqw.1_Intron	p.R511H	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			10	1844	+			511					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1532G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091362	0.36855	.	.	ENSG00000167491	ENST00000360315;ENST00000537887;ENST00000404158;ENST00000358713	T;T	0.33654	1.4;1.4	4.78	3.72	0.42706	.	0.396523	0.27991	N	0.017026	T	0.26159	0.0638	L	0.46157	1.445	0.29587	N	0.848726	P;P	0.51240	0.943;0.865	B;B	0.37047	0.24;0.176	T	0.27739	-1.0065	10	0.41790	T	0.15	-23.8315	9.5191	0.39124	0.1046:0.0:0.8954:0.0	.	531;511	B5MC40;Q86YP4	.;P66A_HUMAN	H	511;140;531;511	ENSP00000353463:R511H;ENSP00000351552:R511H	ENSP00000351552:R511H	R	+	2	0	GATAD2A	19473809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.859000	0.48364	2.370000	0.80446	0.585000	0.79938	CGC		0.667	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4		NM_017660		18	69	0	0	0	0.012319	0	18	69		
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:30934886C>A	ENST00000355537.3	+	2	564	c.417C>A	c.(415-417)ttC>ttA	p.F139L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	139					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.F139F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637																																						uc002nsu.1		NaN																	1	Substitution - coding silent(1)	p.F139F(1)	ovary(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(415-417)TTC>TTA		zinc finger protein 536							66.0	54.0	58.0					19																	30934886		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934886C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.417C>A	19.37:g.30934886C>A	ENSP00000347730:p.Phe139Leu					ZNF536_uc010edd.1_Missense_Mutation_p.F139L	p.F139L	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	555	+	Esophageal squamous(110;0.0834)		139			C2H2-type 1.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.417C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428795	0.62844	.	.	ENSG00000198597	ENST00000355537	T	0.12879	2.64	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.32530	0.975	0.48762	D	0.9997	D;D	0.69078	0.997;0.997	D;D	0.75484	0.985;0.986	T	0.00695	-1.1606	10	0.87932	D	0	-29.7068	10.5512	0.45090	0.0:0.8826:0.0:0.1174	.	139;139	A7E228;O15090	.;ZN536_HUMAN	L	139	ENSP00000347730:F139L	ENSP00000347730:F139L	F	+	3	2	ZNF536	35626726	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.615000	0.46368	2.609000	0.88269	0.462000	0.41574	TTC		0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		25	67	1	0	4.87955e-14	0.005443	5.59802e-14	25	67		
TSHZ3	57616	broad.mit.edu	37	19	31769796	31769796	+	Silent	SNP	T	T	C	rs61747216	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:31769796T>C	ENST00000240587.4	-	2	1230	c.903A>G	c.(901-903)caA>caG	p.Q301Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	301					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGGCACTTTTTGGTAGTGTT	0.537													T|||	8	0.00159744	0.0061	0.0	5008	,	,		16593	0.0		0.0	False		,,,				2504	0.0					uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(901-903)CAA>CAG		zinc finger protein 537		T		51,4355	51.6+/-87.1	2,47,2154	85.0	82.0	83.0		903	2.4	1.0	19	dbSNP_129	83	0,8600		0,0,4300	no	coding-synonymous	TSHZ3	NM_020856.2		2,47,6454	CC,CT,TT		0.0,1.1575,0.3921		301/1082	31769796	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769796T>C	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.903A>G	19.37:g.31769796T>C							p.Q301Q	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	968	-	Esophageal squamous(110;0.226)		301					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.903A>G	CCDS12421.2																																																																																				0.537	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		44	96	0	0	0	0.009718	0	44	96		
TTC9B	148014	broad.mit.edu	37	19	40722099	40722099	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:40722099C>T	ENST00000311308.6	-	3	708	c.691G>A	c.(691-693)Ggg>Agg	p.G231R		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	231					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GTCTGGGACCCAGCCCCACTG	0.597																																						uc002onc.2		NaN																	0					0						c.(691-693)GGG>AGG		tetratricopeptide repeat domain 9B							123.0	98.0	106.0					19																	40722099		2203	4300	6503	SO:0001583	missense	148014						binding	g.chr19:40722099C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.691G>A	19.37:g.40722099C>T	ENSP00000311760:p.Gly231Arg						p.G231R	NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN			3	709	-			231					A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	c.691G>A	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.462946	0.63513	.	.	ENSG00000174521	ENST00000311308	T	0.35236	1.32	4.23	3.17	0.36434	.	0.265700	0.29529	U	0.011897	T	0.27169	0.0666	L	0.50333	1.59	0.26413	N	0.976234	P	0.44877	0.845	B	0.33568	0.166	T	0.16041	-1.0416	10	0.56958	D	0.05	-13.8782	9.9713	0.41757	0.0:0.7928:0.2072:0.0	.	231	Q8N6N2	TTC9B_HUMAN	R	231	ENSP00000311760:G231R	ENSP00000311760:G231R	G	-	1	0	TTC9B	45413939	0.000000	0.05858	0.393000	0.26258	0.252000	0.25951	-0.180000	0.09754	0.746000	0.32786	0.556000	0.70494	GGG		0.597	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1		NM_152479		32	63	0	0	0	0.003271	0	32	63		
ZNF574	64763	broad.mit.edu	37	19	42583136	42583136	+	Nonsense_Mutation	SNP	C	C	G	rs528212343		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:42583136C>G	ENST00000600245.1	+	2	1033	c.378C>G	c.(376-378)taC>taG	p.Y126*	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Y216*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Y126*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCATCCACTACGAGTGTGTGG	0.632																																						uc002osm.3		NaN																	0					0						c.(376-378)TAC>TAG		zinc finger protein 574							46.0	46.0	46.0					19																	42583136		2200	4293	6493	SO:0001587	stop_gained	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583136C>G	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.378C>G	19.37:g.42583136C>G	ENSP00000469029:p.Tyr126*					ZNF574_uc002osk.3_Nonsense_Mutation_p.Y216*	p.Y126*	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	547	+		Prostate(69;0.059)	126			C2H2-type 3.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Nonsense_Mutation	SNP	ENST00000600245.1	37	c.378C>G	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620660	0.66787	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	.	.	.	4.49	-1.53	0.08611	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0246	9.8849	0.41255	0.0:0.5394:0.0:0.4606	.	.	.	.	X	216;126	.	ENSP00000222339:Y216X	Y	+	3	2	ZNF574	47274976	0.000000	0.05858	0.998000	0.56505	0.953000	0.61014	-2.345000	0.01097	-0.211000	0.10124	-0.469000	0.05056	TAC		0.632	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752		25	80	0	0	0	0.00278	0	25	80		
IZUMO1	284359	broad.mit.edu	37	19	49248950	49248950	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:49248950C>A	ENST00000332955.2	-	2	714	c.167G>T	c.(166-168)aGg>aTg	p.R56M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	56					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ATTCTCTACCCTTTCCATCAT	0.552																																						uc002pkj.2		NaN																	0				ovary(1)	1						c.(166-168)AGG>ATG		izumo sperm-egg fusion 1 precursor							176.0	156.0	163.0					19																	49248950		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49248950C>A	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.167G>T	19.37:g.49248950C>A	ENSP00000327786:p.Arg56Met					IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	p.R56M	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	2	715	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	56			Extracellular (Potential).		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.167G>T	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548449	0.27652	.	.	ENSG00000182264	ENST00000332955	T	0.25250	1.81	4.96	-3.88	0.04205	.	0.518907	0.18348	N	0.143969	T	0.13243	0.0321	N	0.20986	0.625	0.09310	N	1	B	0.26147	0.143	B	0.30572	0.117	T	0.16424	-1.0403	10	0.48119	T	0.1	-23.0158	5.227	0.15399	0.1431:0.3522:0.0:0.5047	.	56	Q8IYV9	IZUM1_HUMAN	M	56	ENSP00000327786:R56M	ENSP00000327786:R56M	R	-	2	0	IZUMO1	53940762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.626000	0.05527	-0.385000	0.07833	-1.036000	0.02392	AGG		0.552	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1		NM_182575		41	106	1	0	6.1244e-12	0.007835	6.94099e-12	41	106		
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																														uc002pqh.2		NaN																	8	Substitution - coding silent(8)		lung(6)|urinary_tract(2)	ovary(1)|kidney(1)	2						c.(46-48)CCT>CCC	Other_BER_factors	polynucleotide kinase 3' phosphatase							10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370414A>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G						PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P	p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	1	100	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	16					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.48T>C	CCDS12783.1																																																																																				0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1		NM_007254		12	39	0	0	0	0.001855	0	12	39		
SHANK1	50944	broad.mit.edu	37	19	51171701	51171701	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr19:51171701G>A	ENST00000293441.1	-	22	3534	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S	SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000391813.1_Silent_p.S559S|SHANK1_ENST00000359082.3_Silent_p.S1163S|SHANK1_ENST00000391814.1_Silent_p.S1180S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1172					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGCTGCCCTGGCTGCTGCGGC	0.761																																						uc002psx.1		NaN																	0				large_intestine(2)	2						c.(3514-3516)AGC>AGT		SH3 and multiple ankyrin repeat domains 1							18.0	19.0	19.0					19																	51171701		1537	3337	4874	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51171701G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.3516C>T	19.37:g.51171701G>A						SHANK1_uc002psw.1_Silent_p.S556S	p.S1172S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	3535	-		all_neural(266;0.057)	1172					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.3516C>T	CCDS12799.1																																																																																				0.761	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		11	15	0	0	0	0.004007	0	11	15		
PXDN	7837	broad.mit.edu	37	2	1652948	1652948	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:1652948C>T	ENST00000252804.4	-	17	2654	c.2604G>A	c.(2602-2604)cgG>cgA	p.R868R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	868					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGCTCCTGGCCCGGGAGTCAT	0.662																																						uc002qxa.2		NaN																	0				pancreas(6)|ovary(2)	8						c.(2602-2604)CGG>CGA		peroxidasin precursor							15.0	19.0	18.0					2																	1652948		2094	4189	6283	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652948C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2604G>A	2.37:g.1652948C>T							p.R868R	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2668	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	868					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2604G>A	CCDS46221.1																																																																																				0.662	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455		10	21	0	0	0	0.010729	0	10	21		
TRAPPC12	51112	broad.mit.edu	37	2	3425691	3425691	+	Missense_Mutation	SNP	C	C	T	rs368315810		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:3425691C>T	ENST00000324266.5	+	4	1399	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R402C	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	402					vesicle-mediated transport (GO:0016192)												CCTGTGCGGACGTCTCCTCAC	0.587																																						uc002qxm.1		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1204-1206)CGT>TGT		tetratricopeptide repeat domain 15		C	CYS/ARG	0,4406		0,0,2203	44.0	42.0	43.0		1204	4.7	1.0	2		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC15	NM_016030.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	402/736	3425691	1,13005	2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3425691C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1204C>T	2.37:g.3425691C>T	ENSP00000324318:p.Arg402Cys					TTC15_uc002qxn.1_Missense_Mutation_p.R402C|TTC15_uc010ewm.1_Missense_Mutation_p.R402C	p.R402C	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	4	1410	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	402					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1204C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631362	0.87660	0.0	1.16E-4	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.53423	0.62;0.62	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.984;0.994	T	0.76030	-0.3108	10	0.62326	D	0.03	.	16.8604	0.86016	0.0:1.0:0.0:0.0	.	385;402	E7ENL7;Q8WVT3	.;TPC12_HUMAN	C	402;385;402	ENSP00000371544:R402C;ENSP00000324318:R402C	ENSP00000303612:R385C	R	+	1	0	TTC15	3404698	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.977000	0.40589	2.439000	0.82584	0.563000	0.77884	CGT		0.587	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2		NM_016030		9	22	0	0	0	0.006214	0	9	22		
WDPCP	51057	broad.mit.edu	37	2	63660991	63660991	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:63660991A>G	ENST00000272321.7	-	9	1240	c.713T>C	c.(712-714)gTt>gCt	p.V238A	WDPCP_ENST00000398544.3_Missense_Mutation_p.V79A|WDPCP_ENST00000409562.3_Missense_Mutation_p.V238A|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.V46A|WDPCP_ENST00000409120.1_Missense_Mutation_p.V46A	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	238					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CCAGCAAACAACTCTATCATG	0.433																																						uc002sch.2		NaN																	0					0						c.(712-714)GTT>GCT		hypothetical protein LOC51057 isoform 2							77.0	77.0	77.0					2																	63660991		1911	4114	6025	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63660991A>G		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.713T>C	2.37:g.63660991A>G	ENSP00000272321:p.Val238Ala					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.V79A|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.V46A|C2orf86_uc002sci.1_Missense_Mutation_p.V214A|C2orf86_uc010fcr.1_Missense_Mutation_p.V128A	p.V238A	NM_015910	NP_056994	O95876	FRITZ_HUMAN			9	1159	-			238					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.713T>C	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	A	5.096	0.203293	0.09704	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.43	2.63	0.31362	.	0.289512	0.30667	N	0.009132	T	0.23806	0.0576	N	0.05467	-0.045	0.22911	N	0.998577	B;B;B;B	0.14438	0.005;0.0;0.007;0.01	B;B;B;B	0.16722	0.016;0.001;0.007;0.009	T	0.16012	-1.0417	10	0.22109	T	0.4	-1.373	8.4054	0.32612	0.7:0.0:0.3:0.0	.	46;238;238;79	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	A	238;46;46;79;238	ENSP00000272321:V238A;ENSP00000386592:V46A;ENSP00000386769:V46A;ENSP00000381552:V79A;ENSP00000387222:V238A	ENSP00000272321:V238A	V	-	2	0	WDPCP	63514495	0.970000	0.33590	0.568000	0.28447	0.926000	0.56050	1.719000	0.38011	0.854000	0.35336	0.460000	0.39030	GTT		0.433	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1		NM_015910		16	27	0	0	0	0.008871	0	16	27		
DYSF	8291	broad.mit.edu	37	2	71894600	71894600	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:71894600G>A	ENST00000258104.3	+	47	5572	c.5295G>A	c.(5293-5295)gtG>gtA	p.V1765V	DYSF_ENST00000409744.1_Silent_p.V1773V|DYSF_ENST00000409582.3_Silent_p.V1803V|DYSF_ENST00000429174.2_Silent_p.V1786V|DYSF_ENST00000410020.3_Silent_p.V1804V|DYSF_ENST00000409762.1_Silent_p.V1782V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.V1766V|DYSF_ENST00000409366.1_Silent_p.V1787V|DYSF_ENST00000409651.1_Silent_p.V1797V|DYSF_ENST00000410041.1_Silent_p.V1783V|DYSF_ENST00000413539.2_Silent_p.V1796V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1765					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGAGCACGTGGAGTCACGGC	0.652																																						uc002sie.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(5293-5295)GTG>GTA		dysferlin isoform 8							58.0	58.0	58.0					2																	71894600		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71894600G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5295G>A	2.37:g.71894600G>A						DYSF_uc010feg.2_Silent_p.V1796V|DYSF_uc010feh.2_Silent_p.V1772V|DYSF_uc002sig.3_Silent_p.V1751V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.V1786V|DYSF_uc010fef.2_Silent_p.V1803V|DYSF_uc010fei.2_Silent_p.V1782V|DYSF_uc010fek.2_Silent_p.V1783V|DYSF_uc010fej.2_Silent_p.V1773V|DYSF_uc010fel.2_Silent_p.V1752V|DYSF_uc010feo.2_Silent_p.V1797V|DYSF_uc010fem.2_Silent_p.V1787V|DYSF_uc010fen.2_Silent_p.V1804V|DYSF_uc002sif.2_Silent_p.V1766V|DYSF_uc010yqy.1_Silent_p.V646V|DYSF_uc010yqz.1_Silent_p.V526V	p.V1765V	NM_003494	NP_003485	O75923	DYSF_HUMAN			47	5671	+			1765			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.5295G>A	CCDS1918.1																																																																																				0.652	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		20	42	0	0	0	0.007413	0	20	42		
CNGA3	1261	broad.mit.edu	37	2	98986521	98986521	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:98986521C>T	ENST00000272602.2	+	1	122	c.83C>T	c.(82-84)gCt>gTt	p.A28V	CNGA3_ENST00000436404.2_Missense_Mutation_p.A28V|CNGA3_ENST00000393504.1_Missense_Mutation_p.A28V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	28					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTCAATCGCGCTGAAAATGGC	0.502																																						uc002syt.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(82-84)GCT>GTT		cyclic nucleotide gated channel alpha 3 isoform							125.0	104.0	111.0					2																	98986521		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98986521C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.83C>T	2.37:g.98986521C>T	ENSP00000272602:p.Ala28Val					CNGA3_uc002syu.2_Missense_Mutation_p.A28V	p.A28V	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			2	500	+			28					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.83C>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	0.262	-0.998811	0.02128	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602	D;D;D	0.97114	-4.25;-4.12;-4.25	4.2	-1.21	0.09524	.	.	.	.	.	D	0.86393	0.5922	N	0.02315	-0.6	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.78432	-0.2206	9	0.02654	T	1	.	7.5788	0.27952	0.0:0.4881:0.0:0.5119	.	28;28	Q4VAP7;Q16281	.;CNGA3_HUMAN	V	28	ENSP00000377140:A28V;ENSP00000410070:A28V;ENSP00000272602:A28V	ENSP00000272602:A28V	A	+	2	0	CNGA3	98352953	0.003000	0.15002	0.002000	0.10522	0.045000	0.14185	0.105000	0.15333	-0.293000	0.08986	0.655000	0.94253	GCT		0.502	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1		NM_001298		19	27	0	0	0	0.007413	0	19	27		
TBC1D8	11138	broad.mit.edu	37	2	101670703	101670703	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:101670703G>A	ENST00000376840.4	-	4	452	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TBC1D8_ENST00000409318.1_Silent_p.F166F			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	151	GRAM 1.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGGGGAAGTTGAACCTGGCCT	0.622																																						uc010fiv.2		NaN																	0				ovary(3)	3						c.(451-453)TTC>TTT		TBC1 domain family, member 8							36.0	42.0	40.0					2																	101670703		2067	4230	6297	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101670703G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.453C>T	2.37:g.101670703G>A						TBC1D8_uc010yvw.1_Silent_p.F166F|TBC1D8_uc002tau.3_5'UTR	p.F151F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			4	584	-			151			GRAM 1.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.453C>T	CCDS46375.1																																																																																				0.622	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1		NM_007063		7	12	0	0	0	0.001984	0	7	12		
LRP1B	53353	broad.mit.edu	37	2	141812708	141812708	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:141812708C>A	ENST00000389484.3	-	10	2500	c.1529G>T	c.(1528-1530)gGa>gTa	p.G510V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	510	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATCACTTCCCAAGTTGAA	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1528-1530)GGA>GTA		low density lipoprotein-related protein 1B							108.0	93.0	98.0					2																	141812708		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141812708C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1529G>T	2.37:g.141812708C>A	ENSP00000374135:p.Gly510Val	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.G510V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	10	2501	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	510			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1529G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128525	0.77549	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97209	-4.29	5.45	5.45	0.79879	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.96911	0.8991	L	0.59436	1.845	0.80722	D	1	D	0.61080	0.989	P	0.54856	0.762	D	0.95671	0.8723	10	0.28530	T	0.3	.	14.8184	0.70052	0.0:0.7353:0.2647:0.0	.	510	Q9NZR2	LRP1B_HUMAN	V	510;448	ENSP00000374135:G510V	ENSP00000374135:G510V	G	-	2	0	LRP1B	141529178	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.818000	0.62657	2.569000	0.86673	0.557000	0.71058	GGA		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		10	62	1	0	1.58986e-06	0.008291	1.69888e-06	10	62		
TANC1	85461	broad.mit.edu	37	2	160074029	160074029	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:160074029G>A	ENST00000263635.6	+	20	3503	c.3266G>A	c.(3265-3267)aGa>aAa	p.R1089K	TANC1_ENST00000454300.1_Missense_Mutation_p.R983K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1089					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCCGCAGGAAGAGGGAAGCTG	0.547																																						uc002uag.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3265-3267)AGA>AAA		tetratricopeptide repeat, ankyrin repeat and							107.0	117.0	114.0					2																	160074029		2057	4222	6279	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160074029G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3266G>A	2.37:g.160074029G>A	ENSP00000263635:p.Arg1089Lys					TANC1_uc010zcm.1_Missense_Mutation_p.R1081K|TANC1_uc010fom.1_Missense_Mutation_p.R895K|TANC1_uc010fon.2_5'UTR	p.R1089K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			20	3540	+			1089			ANK 6.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3266G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211193	0.95069	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.66995	-0.24;-0.03	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	N	0.16790	0.44	0.58432	D	0.999999	P;P;D	0.54964	0.911;0.891;0.969	P;P;P	0.56960	0.621;0.487;0.81	T	0.67440	-0.5670	10	0.39692	T	0.17	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1081;983;1089	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	K	983;1089	ENSP00000396339:R983K;ENSP00000263635:R1089K	ENSP00000263635:R1089K	R	+	2	0	TANC1	159782275	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.827000	0.86722	2.813000	0.96785	0.655000	0.94253	AGA		0.547	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				35	202	0	0	0	0.004289	0	35	202		
SCN1A	6323	broad.mit.edu	37	2	166870384	166870384	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:166870384C>A	ENST00000303395.4	-	18	3574	c.3575G>T	c.(3574-3576)tGt>tTt	p.C1192F	SCN1A_ENST00000423058.2_Missense_Mutation_p.C1192F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.C1181F|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.C1164F			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1192					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTGATTTGACAACACTTGAA	0.388																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(3541-3543)TGT>TTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						217.0	192.0	200.0					2																	166870384		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166870384C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3575G>T	2.37:g.166870384C>A	ENSP00000303540:p.Cys1192Phe					SCN1A_uc002udo.3_Missense_Mutation_p.C1061F|SCN1A_uc010fpk.2_Missense_Mutation_p.C1033F	p.C1181F	NM_006920	NP_008851	P35498	SCN1A_HUMAN			18	3560	-			1192					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3542G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649814	0.87958	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.79	5.79	0.91817	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.94225	0.8146	M	0.90198	3.095	0.80722	D	1	B;D;D	0.76494	0.068;0.999;0.998	B;D;D	0.87578	0.025;0.998;0.985	D	0.94634	0.7824	10	0.87932	D	0	.	20.0271	0.97525	0.0:1.0:0.0:0.0	.	1181;1164;1192	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	F	1192;1192;1181;1164	ENSP00000407030:C1192F;ENSP00000303540:C1192F;ENSP00000364554:C1181F;ENSP00000386312:C1164F	ENSP00000303540:C1192F	C	-	2	0	SCN1A	166578630	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.910000	0.63321	2.744000	0.94065	0.650000	0.86243	TGT		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		70	100	1	0	1.76847e-28	0.01441	2.09306e-28	70	100		
PDE11A	50940	broad.mit.edu	37	2	178545579	178545579	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:178545579T>G	ENST00000286063.6	-	16	2715	c.2398A>C	c.(2398-2400)Atc>Ctc	p.I800L	PDE11A_ENST00000389683.3_Missense_Mutation_p.I356L|PDE11A_ENST00000449286.2_Missense_Mutation_p.I442L|PDE11A_ENST00000358450.4_Missense_Mutation_p.I550L|PDE11A_ENST00000409504.1_Missense_Mutation_p.I442L	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	800	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGGTTTTTGATGTTCCAATCG	0.318									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2398-2400)ATC>CTC		phosphodiesterase 11A isoform 4							130.0	123.0	125.0					2																	178545579		2202	4299	6501	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178545579T>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2398A>C	2.37:g.178545579T>G	ENSP00000286063:p.Ile800Leu					PDE11A_uc002ulp.2_Missense_Mutation_p.I356L|PDE11A_uc002ulr.2_Missense_Mutation_p.I550L|PDE11A_uc002uls.1_Missense_Mutation_p.I442L|PDE11A_uc002ult.1_Missense_Mutation_p.I550L|PDE11A_uc002ulu.1_Missense_Mutation_p.I442L	p.I800L	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		16	2716	-			800			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2398A>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	T	8.365	0.834077	0.16820	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.77	3.31	0.37934	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	1.572060	0.03320	N	0.191828	T	0.50820	0.1638	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55108	-0.8192	10	0.13853	T	0.58	.	5.8624	0.18757	0.0:0.1756:0.1445:0.6799	.	550;800	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	L	800;550;442;356;442	ENSP00000286063:I800L;ENSP00000351232:I550L;ENSP00000386539:I442L;ENSP00000374333:I356L;ENSP00000390599:I442L	ENSP00000286063:I800L	I	-	1	0	PDE11A	178253825	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.361000	0.20267	2.326000	0.78906	0.533000	0.62120	ATC		0.318	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				7	39	0	0	0	0.004482	0	7	39		
TTN	7273	broad.mit.edu	37	2	179575634	179575634	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179575634G>T	ENST00000591111.1	-	96	27463	c.27239C>A	c.(27238-27240)cCc>cAc	p.P9080H	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P9397H|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P8153H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13211	Ig-like 74.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAAAGAAGGGTGGGTTCTT	0.483																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24457-24459)CCC>CAC		titin isoform N2-A							81.0	78.0	79.0					2																	179575634		1963	4155	6118	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575634G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27239C>A	2.37:g.179575634G>T	ENSP00000465570:p.Pro9080His					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4814H	p.P8153H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	24682	-			9080					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24458C>A		.	.	.	.	.	.	.	.	.	.	G	11.75	1.733210	0.30684	.	.	ENSG00000155657	ENST00000342992	T	0.81078	-1.45	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94551	0.8245	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95769	0.8807	9	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	9080	Q8WZ42	TITIN_HUMAN	H	8153	ENSP00000343764:P8153H	ENSP00000343764:P8153H	P	-	2	0	TTN	179283879	1.000000	0.71417	0.901000	0.35422	0.055000	0.15305	7.517000	0.81783	2.882000	0.98803	0.655000	0.94253	CCC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		8	92	1	0	0.00621372	0.006214	0.00634953	8	92		
TTN	7273	broad.mit.edu	37	2	179644785	179644785	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179644785A>T	ENST00000591111.1	-	22	3895	c.3671T>A	c.(3670-3672)tTa>tAa	p.L1224*	TTN_ENST00000460472.2_Nonsense_Mutation_p.L1178*|TTN_ENST00000359218.5_Nonsense_Mutation_p.L1178*|TTN_ENST00000589042.1_Nonsense_Mutation_p.L1224*|TTN_ENST00000342992.6_Nonsense_Mutation_p.L1224*|TTN_ENST00000360870.5_Nonsense_Mutation_p.L1224*|TTN_ENST00000342175.6_Nonsense_Mutation_p.L1178*|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33436					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCTAATTAAGGCTTGTtc	0.343																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3670-3672)TTA>TAA		titin isoform N2-A							141.0	129.0	133.0					2																	179644785		2203	4299	6502	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644785A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3671T>A	2.37:g.179644785A>T	ENSP00000465570:p.Leu1224*					TTN_uc010zfh.1_Nonsense_Mutation_p.L1178*|TTN_uc010zfi.1_Nonsense_Mutation_p.L1178*|TTN_uc010zfj.1_Nonsense_Mutation_p.L1178*|TTN_uc002unb.2_Nonsense_Mutation_p.L1224*	p.L1224*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		22	3895	-			1224					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.3671T>A		.	.	.	.	.	.	.	.	.	.	A	43	10.397659	0.99397	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2965	0.82776	1.0:0.0:0.0:0.0	.	.	.	.	X	1224;1178;1178;1178;1178;1224	.	ENSP00000340554:L1178X	L	-	2	0	TTN	179353030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.366000	0.66122	2.243000	0.73865	0.528000	0.53228	TTA		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		35	61	0	0	0	0.003271	0	35	61		
TTN	7273	broad.mit.edu	37	2	179644787	179644787	+	Silent	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:179644787G>T	ENST00000591111.1	-	22	3893	c.3669C>A	c.(3667-3669)gcC>gcA	p.A1223A	TTN_ENST00000460472.2_Silent_p.A1177A|TTN_ENST00000359218.5_Silent_p.A1177A|TTN_ENST00000589042.1_Silent_p.A1223A|TTN_ENST00000342992.6_Silent_p.A1223A|TTN_ENST00000360870.5_Silent_p.A1223A|TTN_ENST00000342175.6_Silent_p.A1177A|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33435					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTAATTAAGGCTTGTtctt	0.348																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3667-3669)GCC>GCA		titin isoform N2-A							143.0	131.0	135.0					2																	179644787		2203	4299	6502	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644787G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3669C>A	2.37:g.179644787G>T						TTN_uc010zfh.1_Silent_p.A1177A|TTN_uc010zfi.1_Silent_p.A1177A|TTN_uc010zfj.1_Silent_p.A1177A|TTN_uc002unb.2_Silent_p.A1223A	p.A1223A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		22	3893	-			1223					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3669C>A																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		33	62	1	0	1.56442e-22	0.012213	1.81706e-22	33	62		
ANKRD44	91526	broad.mit.edu	37	2	197889932	197889932	+	Silent	SNP	T	T	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:197889932T>A	ENST00000328737.2	-	17	1711	c.1635A>T	c.(1633-1635)ccA>ccT	p.P545P	ANKRD44_ENST00000282272.8_Silent_p.P562P|ANKRD44_ENST00000337207.5_Silent_p.P545P|ANKRD44_ENST00000450567.1_Silent_p.P545P			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	570										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTAAGTGGAGTGGACTCTTAG	0.383																																						uc002uua.1		NaN																	0				ovary(4)|skin(1)	5						c.(1633-1635)CCA>CCT		ankyrin repeat domain 44							148.0	130.0	136.0					2																	197889932		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197889932T>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1635A>T	2.37:g.197889932T>A						ANKRD44_uc002utz.3_Silent_p.P277P	p.P545P	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		17	1712	-			570			ANK 17.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.1635A>T																																																																																					0.383	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1		NM_153697		30	51	0	0	0	0.009535	0	30	51		
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	902					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Missense(1)		urinary_tract(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(2704-2706)GAA>AAA		splicing factor 3b, subunit 1 isoform 1							123.0	120.0	121.0					2																	198265453		2202	4300	6502	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265453C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2704G>A	2.37:g.198265453C>T	ENSP00000335321:p.Glu902Lys						p.E902K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2752	-			902					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2704G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052147	0.93793	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.93763	3.455	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	D	0.88881	0.3339	9	0.62326	D	0.03	.	20.0015	0.97412	0.0:1.0:0.0:0.0	.	902	O75533	SF3B1_HUMAN	K	902	.	ENSP00000335321:E902K	E	-	1	0	SF3B1	197973698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.976000	0.70484	2.803000	0.96430	0.655000	0.94253	GAA		0.318	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				25	50	0	0	0	0.003954	0	25	50		
MAP2	4133	broad.mit.edu	37	2	210559447	210559447	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:210559447T>C	ENST00000360351.4	+	7	3059	c.2553T>C	c.(2551-2553)acT>acC	p.T851T	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.T847T|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	851					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCCCGGTAACTGATGAAAACC	0.493																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NaN																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2551-2553)ACT>ACC		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						87.0	85.0	86.0					2																	210559447		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559447T>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2553T>C	2.37:g.210559447T>C						MAP2_uc002vdc.1_Silent_p.T851T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T847T	p.T851T	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2801	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	851					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.2553T>C	CCDS2384.1																																																																																				0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		NM_001039538		13	68	0	0	0	0.001855	0	13	68		
SMARCAL1	50485	broad.mit.edu	37	2	217300080	217300080	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:217300080C>T	ENST00000357276.4	+	9	1835	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.P502L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	502	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGGTGGCTGCCATCTCTGAGC	0.547									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(1504-1506)CCA>CTA		SWI/SNF-related matrix-associated							133.0	107.0	116.0					2																	217300080		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217300080C>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1505C>T	2.37:g.217300080C>T	ENSP00000349823:p.Pro502Leu					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.P502L|SMARCAL1_uc010fvg.2_Missense_Mutation_p.P502L	p.P502L	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	9	1835	+		Renal(323;0.0458)	502			Helicase ATP-binding.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.1505C>T	CCDS2403.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.85|17.85	3.491367|3.491367	0.64074|0.64074	.|.	.|.	ENSG00000138375|ENSG00000138375	ENST00000445153|ENST00000357276;ENST00000358207;ENST00000392128	.|D;D;D	.|0.94650	.|-3.48;-3.48;-3.48	5.84|5.84	5.84|5.84	0.93424|0.93424	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98451|0.98451	0.9484|0.9484	H|H	0.97540|0.97540	4.025|4.025	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.79784	.|0.993	D|D	0.99289|0.99289	1.0898|1.0898	5|10	.|0.87932	.|D	.|0	-19.7412|-19.7412	19.116|19.116	0.93340|0.93340	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|502	.|Q9NZC9	.|SMAL1_HUMAN	Y|L	60|502;502;366	.|ENSP00000349823:P502L;ENSP00000350940:P502L;ENSP00000375974:P366L	.|ENSP00000349823:P502L	H|P	+|+	1|2	0|0	SMARCAL1|SMARCAL1	217008325|217008325	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.014000|0.014000	0.08584|0.08584	7.706000|7.706000	0.84615|0.84615	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	CAT|CCA		0.547	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2				13	62	0	0	0	0.003163	0	13	62		
TNS1	7145	broad.mit.edu	37	2	218713307	218713307	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:218713307A>G	ENST00000171887.4	-	17	2010	c.1558T>C	c.(1558-1560)Tct>Cct	p.S520P	TNS1_ENST00000419504.1_Missense_Mutation_p.S520P|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.S520P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	520					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGAGAAGAGAGTGTGCCC	0.592																																						uc002vgt.2		NaN																	0				ovary(3)|breast(1)	4						c.(1558-1560)TCT>CCT		tensin							81.0	82.0	82.0					2																	218713307		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713307A>G	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1558T>C	2.37:g.218713307A>G	ENSP00000171887:p.Ser520Pro					TNS1_uc002vgr.2_Missense_Mutation_p.S520P|TNS1_uc002vgs.2_Missense_Mutation_p.S520P|TNS1_uc010zjv.1_Missense_Mutation_p.S520P|TNS1_uc010fvj.1_Missense_Mutation_p.S588P|TNS1_uc010fvk.1_Missense_Mutation_p.S645P|TNS1_uc010fvi.1_Missense_Mutation_p.S207P	p.S520P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1956	-		Renal(207;0.0483)|Lung NSC(271;0.213)	520					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1558T>C	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727687	0.48833	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.97303	-3.84;-3.8;-3.83;-4.33	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;0.998	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.986;0.914	D	0.98674	1.0689	10	0.62326	D	0.03	.	14.4874	0.67626	1.0:0.0:0.0:0.0	.	520;574;520;520;520	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	P	520;520;520;645	ENSP00000171887:S520P;ENSP00000408724:S520P;ENSP00000406016:S520P;ENSP00000405460:S645P	ENSP00000171887:S520P	S	-	1	0	TNS1	218421552	1.000000	0.71417	0.990000	0.47175	0.022000	0.10575	9.081000	0.94049	2.068000	0.61886	0.533000	0.62120	TCT		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		14	62	0	0	0	0.004007	0	14	62		
IHH	3549	broad.mit.edu	37	2	219924972	219924972	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:219924972C>T	ENST00000295731.6	-	1	217	c.218G>A	c.(217-219)cGc>cAc	p.R73H	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	73					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCGGAGCTGCGAGCGATCTT	0.612																																						uc002vjo.1		NaN																	0				breast(1)	1						c.(217-219)CGC>CAC		Indian hedgehog homolog precursor							70.0	73.0	72.0					2																	219924972		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219924972C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.218G>A	2.37:g.219924972C>T	ENSP00000295731:p.Arg73His					hsa-mir-3131|MI0014151_5'Flank	p.R73H	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	218	-		Renal(207;0.0915)	73					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.218G>A	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606483	0.87157	.	.	ENSG00000163501	ENST00000295731	D	0.99479	-5.98	4.22	4.22	0.49857	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99591	0.9852	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97746	1.0211	10	0.87932	D	0	-23.7512	16.401	0.83641	0.0:1.0:0.0:0.0	.	73	Q14623	IHH_HUMAN	H	73	ENSP00000295731:R73H	ENSP00000295731:R73H	R	-	2	0	IHH	219633216	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.421000	0.80204	2.180000	0.69256	0.555000	0.69702	CGC		0.612	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2		NM_002181		32	54	0	0	0	0.012213	0	32	54		
KIF1A	547	broad.mit.edu	37	2	241715279	241715279	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:241715279C>T	ENST00000320389.7	-	11	1105	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	KIF1A_ENST00000498729.2_Missense_Mutation_p.R316Q	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	316	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGGTTTTCCCGGAGGAGCCA	0.577																																						uc002vzy.2		NaN																	0				lung(1)	1						c.(946-948)CGG>CAG		axonal transport of synaptic vesicles							102.0	112.0	109.0					2																	241715279		1942	4127	6069	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241715279C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.947G>A	2.37:g.241715279C>T	ENSP00000322791:p.Arg316Gln					KIF1A_uc010fzk.2_Missense_Mutation_p.R316Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R316Q	p.R316Q	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	11	1093	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	316			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.947G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	c	29.5	5.014398	0.93404	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.72167	-0.63;-0.63;-0.63	4.26	4.26	0.50523	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	T	0.59998	0.2235	N	0.00504	-1.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.978;0.959;0.992	T	0.80299	-0.1441	10	0.87932	D	0	.	16.6719	0.85269	0.0:1.0:0.0:0.0	.	316;316;316	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	Q	316	ENSP00000322791:R316Q;ENSP00000438388:R316Q;ENSP00000384231:R316Q	ENSP00000322791:R316Q	R	-	2	0	KIF1A	241363952	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.765000	0.68834	2.087000	0.62958	0.479000	0.44913	CGG		0.577	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483		6	24	0	0	0	0.001168	0	6	24		
NEU4	129807	broad.mit.edu	37	2	242757712	242757712	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:242757712C>T	ENST00000391969.2	+	5	1504	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	NEU4_ENST00000405370.1_Missense_Mutation_p.R265C|NEU4_ENST00000407683.1_Missense_Mutation_p.R265C|NEU4_ENST00000325935.6_Missense_Mutation_p.R278C|NEU4_ENST00000404257.1_Missense_Mutation_p.R277C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	265					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCCGCAGAGCGCGTGGCTTC	0.697																																						uc010fzr.2		NaN																	0					0						c.(793-795)CGC>TGC		sialidase 4							9.0	11.0	11.0					2																	242757712		2182	4278	6460	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757712C>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.793C>T	2.37:g.242757712C>T	ENSP00000375830:p.Arg265Cys					NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.R265C|NEU4_uc002wcn.1_Missense_Mutation_p.R277C|NEU4_uc002wco.1_Missense_Mutation_p.R265C|NEU4_uc002wcp.1_Missense_Mutation_p.R277C	p.R265C	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	4	879	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	265					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.793C>T	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794325	0.31777	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	4.55	4.55	0.56014	Neuraminidase (2);	0.073507	0.56097	D	0.000027	T	0.80523	0.4639	L	0.34521	1.04	0.36067	D	0.841849	P;P;D	0.61697	0.57;0.515;0.99	B;B;B	0.42738	0.026;0.015;0.396	D	0.87031	0.2135	10	0.72032	D	0.01	-15.8002	17.3258	0.87246	0.0:1.0:0.0:0.0	.	277;277;265	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	C	265;265;275;277;265;278	ENSP00000385402:R265C;ENSP00000384804:R265C;ENSP00000385149:R277C;ENSP00000375830:R265C;ENSP00000320318:R278C	ENSP00000320318:R278C	R	+	1	0	NEU4	242406385	1.000000	0.71417	0.874000	0.34290	0.171000	0.22731	1.827000	0.39102	2.076000	0.62316	0.443000	0.29094	CGC		0.697	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2		NM_080741		4	3	0	0	0	0.000602	0	4	3		
ZNF341	84905	broad.mit.edu	37	20	32349815	32349815	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:32349815G>A	ENST00000375200.1	+	8	1541	c.1176G>A	c.(1174-1176)caG>caA	p.Q392Q	ZNF341_ENST00000342427.2_Silent_p.Q385Q	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGACCGTACAGGTCATGGCCC	0.567																																						uc002wzy.2		NaN																	0				ovary(2)	2						c.(1174-1176)CAG>CAA		zinc finger protein 341							132.0	114.0	120.0					20																	32349815		2203	4300	6503	SO:0001819	synonymous_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32349815G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1176G>A	20.37:g.32349815G>A						ZNF341_uc002wzx.2_Silent_p.Q385Q|ZNF341_uc010geq.2_Silent_p.Q302Q|ZNF341_uc010ger.2_RNA	p.Q392Q	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			8	1196	+			392					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37	c.1176G>A																																																																																					0.567	ZNF341-201	KNOWN	basic	protein_coding	protein_coding					37	77	0	0	0	0.007835	0	37	77		
CPNE1	8904	broad.mit.edu	37	20	34219095	34219095	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:34219095C>T	ENST00000317619.3	-	12	1196	c.802G>A	c.(802-804)Gta>Ata	p.V268I	CPNE1_ENST00000352393.4_Splice_Site_p.V268I|CPNE1_ENST00000397446.1_Splice_Site_p.V268I|CPNE1_ENST00000397443.1_Splice_Site_p.V268I|CPNE1_ENST00000397445.1_Splice_Site_p.V268I|CPNE1_ENST00000317677.5_Splice_Site_p.V273I|CPNE1_ENST00000397442.1_Splice_Site_p.V268I			Q99829	CPNE1_HUMAN	copine I	268					lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCTGTTTCTACCTGCAAATGA	0.493																																						uc002xdf.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(802-804)GTA>ATA		copine I isoform a							195.0	194.0	194.0					20																	34219095		2203	4300	6503	SO:0001630	splice_region_variant	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34219095C>T	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.802-1G>A	20.37:g.34219095C>T						CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.V273I|CPNE1_uc002xde.2_Missense_Mutation_p.V244I|CPNE1_uc002xdg.2_Missense_Mutation_p.V268I|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.V268I|CPNE1_uc002xdi.2_Missense_Mutation_p.V268I|CPNE1_uc002xdj.2_Missense_Mutation_p.V268I|CPNE1_uc002xdk.2_Missense_Mutation_p.V268I|CPNE1_uc002xdl.2_Missense_Mutation_p.V268I|CPNE1_uc002xdm.2_Missense_Mutation_p.V268I|CPNE1_uc010gfk.1_Missense_Mutation_p.V268I	p.V268I	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		12	1165	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		268					E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.802G>A	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702260	0.15172	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664	T;T;T;T;T;T;T;T;T;T;T	0.11277	3.6;3.61;3.6;3.6;3.6;3.6;3.6;3.46;3.04;2.79;2.93	5.14	4.13	0.48395	.	0.264564	0.29544	U	0.011857	T	0.03263	0.0095	N	0.02721	-0.515	0.32823	D	0.502947	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.001	T	0.34976	-0.9807	10	0.09843	T	0.71	-11.1131	4.4796	0.11760	0.0:0.718:0.0:0.282	.	273;268;268;268;248	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	I	268;273;268;268;268;268;268;268;244;244;268	ENSP00000336945:V268I;ENSP00000317257:V273I;ENSP00000326126:V268I;ENSP00000380588:V268I;ENSP00000380587:V268I;ENSP00000380585:V268I;ENSP00000380584:V268I;ENSP00000415597:V268I;ENSP00000390626:V244I;ENSP00000416962:V244I;ENSP00000404355:V268I	ENSP00000326126:V268I	V	-	1	0	CPNE1	33682509	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.650000	0.37292	2.655000	0.90218	0.655000	0.94253	GTA		0.493	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930	Missense_Mutation	64	157	0	0	0	0.01441	0	64	157		
TTI1	9675	broad.mit.edu	37	20	36611923	36611923	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:36611923C>T	ENST00000373448.2	-	9	3443	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	TTI1_ENST00000373447.3_Missense_Mutation_p.G1069R|TTI1_ENST00000449821.1_Missense_Mutation_p.G1069R	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	1069					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCGCTGGCCCCGTGCAGCTGC	0.652																																						uc002xhl.2		NaN																	0					0						c.(3205-3207)GGG>AGG		hypothetical protein LOC9675							56.0	51.0	52.0					20																	36611923		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36611923C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.3205G>A	20.37:g.36611923C>T	ENSP00000362547:p.Gly1069Arg					KIAA0406_uc002xhm.2_Missense_Mutation_p.G1069R	p.G1069R	NM_014657	NP_055472	O43156	TTI1_HUMAN			9	3414	-		Myeloproliferative disorder(115;0.00874)	1069					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.3205G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473540	0.43942	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.15139	2.45;2.45;2.45	5.24	4.3	0.51218	.	0.109177	0.64402	D	0.000005	T	0.35740	0.0942	M	0.72894	2.215	0.48185	D	0.999607	D	0.65815	0.995	P	0.62014	0.897	T	0.10132	-1.0643	10	0.51188	T	0.08	-0.4286	11.4936	0.50396	0.0:0.9175:0.0:0.0825	.	1069	O43156	TTI1_HUMAN	R	1069	ENSP00000362547:G1069R;ENSP00000362546:G1069R;ENSP00000407270:G1069R	ENSP00000362546:G1069R	G	-	1	0	TTI1	36045337	0.696000	0.27757	0.054000	0.19295	0.004000	0.04260	3.691000	0.54720	1.449000	0.47699	-0.150000	0.13652	GGG		0.652	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657		12	32	0	0	0	0.001855	0	12	32		
CDH4	1002	broad.mit.edu	37	20	60508129	60508129	+	Missense_Mutation	SNP	G	G	A	rs142330895		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr20:60508129G>A	ENST00000360469.5	+	14	2414	c.2326G>A	c.(2326-2328)Gtc>Atc	p.V776I	CDH4_ENST00000543233.1_Missense_Mutation_p.V702I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	776					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGAGGACGACGTCCGCGACAA	0.657																																						uc002ybn.1		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(2326-2328)GTC>ATC		cadherin 4, type 1 preproprotein		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	106.0	77.0	87.0		2326	4.2	1.0	20	dbSNP_134	87	0,8600		0,0,4300	no	missense	CDH4	NM_001794.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	776/917	60508129	1,13005	2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60508129G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2326G>A	20.37:g.60508129G>A	ENSP00000353656:p.Val776Ile					CDH4_uc002ybp.1_Missense_Mutation_p.V702I	p.V776I	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		14	2340	+			776			Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2326G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811381	0.90707	2.27E-4	0.0	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.75821	-0.97;-0.97	4.18	4.18	0.49190	Cadherin, cytoplasmic domain (1);	0.065753	0.64402	D	0.000011	T	0.72843	0.3511	N	0.16903	0.455	0.80722	D	1	D	0.65815	0.995	P	0.59546	0.859	T	0.72893	-0.4154	9	.	.	.	.	16.8555	0.86005	0.0:0.0:1.0:0.0	.	776	P55283	CADH4_HUMAN	I	776;684;702	ENSP00000353656:V776I;ENSP00000443301:V702I	.	V	+	1	0	CDH4	59941524	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.471000	0.66762	2.027000	0.59764	0.563000	0.77884	GTC		0.657	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		21	56	0	0	0	0.003954	0	21	56		
PWP2	5822	broad.mit.edu	37	21	45542227	45542227	+	Silent	SNP	G	G	A	rs191186522		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr21:45542227G>A	ENST00000291576.7	+	14	1933	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	602					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CCAAGCACGCGGCCAAGGGGA	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17778	0.0		0.0	False		,,,				2504	0.0					uc002zeb.2		NaN																	0				pancreas(1)	1						c.(1804-1806)GCG>GCA		PWP2 periodic tryptophan protein homolog							84.0	58.0	67.0					21																	45542227		2203	4300	6503	SO:0001819	synonymous_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45542227G>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1806G>A	21.37:g.45542227G>A							p.A602A	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	14	1896	+			602					B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	c.1806G>A	CCDS33579.1																																																																																				0.582	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3		NM_005049		10	43	0	0	0	0.006214	0	10	43		
ITGB2	3689	broad.mit.edu	37	21	46306766	46306766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr21:46306766C>T	ENST00000397850.2	-	16	2584	c.2132G>A	c.(2131-2133)gGc>gAc	p.G711D	ITGB2_ENST00000397857.1_Missense_Mutation_p.G711D|ITGB2_ENST00000302347.5_Missense_Mutation_p.G711D|ITGB2_ENST00000397852.1_Missense_Mutation_p.G711D|ITGB2_ENST00000397854.3_Missense_Mutation_p.G654D|ITGB2_ENST00000355153.4_Missense_Mutation_p.G711D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	711					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CAGCACGATGCCTGCCACGGT	0.612																																						uc002zgd.2		NaN																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(2131-2133)GGC>GAC		integrin, beta 2 precursor	Simvastatin(DB00641)						71.0	62.0	65.0					21																	46306766		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46306766C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2132G>A	21.37:g.46306766C>T	ENSP00000380948:p.Gly711Asp					ITGB2_uc002zge.2_Missense_Mutation_p.G711D|ITGB2_uc002zgf.3_Missense_Mutation_p.G711D|ITGB2_uc011afl.1_Missense_Mutation_p.G633D|ITGB2_uc010gpw.2_Missense_Mutation_p.G654D|ITGB2_uc002zgg.2_Missense_Mutation_p.G711D	p.G711D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	14	2176	-			711			Helical; (Potential).		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.2132G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696667	0.68386	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.61;-2.87;-2.87;-2.87	4.83	3.93	0.45458	.	.	.	.	.	D	0.94958	0.8369	M	0.89214	3.015	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.901	D	0.95106	0.8234	9	0.87932	D	0	.	12.1438	0.54012	0.1729:0.8271:0.0:0.0	.	654;711	A8MYE6;P05107	.;ITB2_HUMAN	D	711;711;654;711;711;711	ENSP00000380950:G711D;ENSP00000380955:G711D;ENSP00000380952:G654D;ENSP00000347279:G711D;ENSP00000380948:G711D;ENSP00000303242:G711D	ENSP00000303242:G711D	G	-	2	0	ITGB2	45131194	0.997000	0.39634	0.002000	0.10522	0.000000	0.00434	5.633000	0.67825	1.006000	0.39211	-0.182000	0.12963	GGC		0.612	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2		NM_000211		7	57	0	0	0	0.004482	0	7	57		
IL5RA	3568	broad.mit.edu	37	3	3139839	3139839	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:3139839T>G	ENST00000446632.2	-	6	1077	c.503A>C	c.(502-504)cAg>cCg	p.Q168P	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.Q168P|IL5RA_ENST00000311981.8_Missense_Mutation_p.Q168P|IL5RA_ENST00000418488.2_Missense_Mutation_p.Q168P|IL5RA_ENST00000430514.2_Missense_Mutation_p.Q168P|IL5RA_ENST00000256452.3_Missense_Mutation_p.Q168P|IL5RA_ENST00000456302.1_Missense_Mutation_p.Q168P|IL5RA_ENST00000438560.1_Missense_Mutation_p.Q168P	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	168					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAGAAAATACTGCGTGTCCTC	0.408																																					GBM(169;430 2801 24955 28528)	uc011ask.1		NaN																	0				ovary(1)	1						c.(502-504)CAG>CCG		interleukin 5 receptor, alpha isoform 1							165.0	171.0	169.0					3																	3139839		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139839T>G	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.503A>C	3.37:g.3139839T>G	ENSP00000412209:p.Gln168Pro					IL5RA_uc010hbq.2_Missense_Mutation_p.Q168P|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.Q168P|IL5RA_uc011asl.1_Missense_Mutation_p.Q168P|IL5RA_uc011asm.1_Missense_Mutation_p.Q168P|IL5RA_uc010hbt.2_Missense_Mutation_p.Q168P|IL5RA_uc011asn.1_Missense_Mutation_p.Q168P|IL5RA_uc010hbu.2_Missense_Mutation_p.Q168P	p.Q168P	NM_000564	NP_000555	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	7	1147	-			168			Extracellular (Potential).		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.503A>C	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216441	0.58452	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.91	3.53	0.40419	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.088654	0.49916	D	0.000135	D	0.91300	0.7257	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.71870	0.965;0.919;0.94;0.965;0.975	D	0.90027	0.4132	10	0.72032	D	0.01	-12.5501	8.5001	0.33152	0.0:0.1525:0.0:0.8475	.	168;168;168;168;168	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	P	168	ENSP00000412209:Q168P;ENSP00000390753:Q168P;ENSP00000256452:Q168P;ENSP00000388858:Q168P;ENSP00000373358:Q168P;ENSP00000309196:Q168P;ENSP00000400400:Q168P;ENSP00000392059:Q168P;ENSP00000398117:Q168P	ENSP00000256452:Q168P	Q	-	2	0	IL5RA	3114839	0.980000	0.34600	0.964000	0.40570	0.968000	0.65278	1.836000	0.39191	0.490000	0.27771	-0.254000	0.11334	CAG		0.408	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2				17	76	0	0	0	0.006122	0	17	76		
PRRT3	285368	broad.mit.edu	37	3	9989043	9989043	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:9989043G>C	ENST00000412055.1	-	4	1943	c.1814C>G	c.(1813-1815)tCg>tGg	p.S605W	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	605						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAGGCGCACGACAAGCCCTG	0.711																																						uc003bul.2		NaN																	0					0						c.(1813-1815)TCG>TGG		proline-rich transmembrane protein 3 precursor							12.0	14.0	13.0					3																	9989043		1994	3958	5952	SO:0001583	missense	285368					integral to membrane		g.chr3:9989043G>C	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1814C>G	3.37:g.9989043G>C	ENSP00000392511:p.Ser605Trp					CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	p.S605W	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			4	1944	-			605			Helical; (Potential).		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.1814C>G	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414471	0.62511	.	.	ENSG00000163704	ENST00000412055	T	0.16897	2.31	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000015	T	0.26666	0.0652	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02683	-1.1124	9	.	.	.	-9.4408	14.5991	0.68427	0.0:0.0:1.0:0.0	.	605	Q5FWE3	PRRT3_HUMAN	W	605	ENSP00000392511:S605W	.	S	-	2	0	PRRT3	9964043	1.000000	0.71417	0.242000	0.24170	0.780000	0.44128	6.362000	0.73077	2.298000	0.77334	0.462000	0.41574	TCG		0.711	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1		NM_207351		4	23	0	0	0	0.000602	0	4	23		
ZNF385D	79750	broad.mit.edu	37	3	21465483	21465483	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:21465483T>G	ENST00000281523.2	-	7	1444	c.926A>C	c.(925-927)aAa>aCa	p.K309T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	309						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTCTGTAGTTTGTTGTAAGG	0.423																																						uc003cce.2		NaN																	0				large_intestine(2)|skin(2)|ovary(1)	5						c.(925-927)AAA>ACA		zinc finger protein 385D							165.0	166.0	165.0					3																	21465483		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21465483T>G	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.926A>C	3.37:g.21465483T>G	ENSP00000281523:p.Lys309Thr						p.K309T	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			7	1334	-			309						Missense_Mutation	SNP	ENST00000281523.2	37	c.926A>C	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067076	0.76301	.	.	ENSG00000151789	ENST00000281523	T	0.40756	1.02	5.74	5.74	0.90152	.	0.195960	0.52532	D	0.000068	T	0.39145	0.1067	L	0.55213	1.73	0.42852	D	0.994081	B	0.32781	0.384	B	0.23716	0.048	T	0.32188	-0.9916	10	0.52906	T	0.07	-13.8733	16.0069	0.80370	0.0:0.0:0.0:1.0	.	309	Q9H6B1	Z385D_HUMAN	T	309	ENSP00000281523:K309T	ENSP00000281523:K309T	K	-	2	0	ZNF385D	21440487	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.910000	0.63321	2.180000	0.69256	0.454000	0.30748	AAA		0.423	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697		12	84	0	0	0	0.00499	0	12	84		
LRRFIP2	9209	broad.mit.edu	37	3	37100399	37100399	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:37100399A>C	ENST00000336686.4	-	25	1832	c.1752T>G	c.(1750-1752)atT>atG	p.I584M	LRRFIP2_ENST00000421276.2_Missense_Mutation_p.I287M|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.I287M|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.I366M|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.I584M|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.I263M			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	584					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCAGTTTTCTAATCTGAAATG	0.438																																						uc003cgp.2		NaN																	1	Whole gene deletion(1)		ovary(1)	ovary(1)	1						c.(1750-1752)ATT>ATG		leucine rich repeat (in FLII) interacting							98.0	86.0	90.0					3																	37100399		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37100399A>C	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1752T>G	3.37:g.37100399A>C	ENSP00000338727:p.Ile584Met					MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.I366M|LRRFIP2_uc003cgr.2_Missense_Mutation_p.I287M|LRRFIP2_uc003cgs.3_Missense_Mutation_p.I287M|LRRFIP2_uc003cgt.3_Missense_Mutation_p.I263M	p.I584M	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN			26	2175	-			584			Potential.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.1752T>G	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.029968|4.029968	0.75504|0.75504	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230|ENST00000440742	T;T;T;T;T;T|.	0.54279|.	0.58;0.58;0.58;0.58;0.58;0.58|.	5.9|5.9	-3.0|-3.0	0.05480|0.05480	.|.	0.325370|.	0.34178|.	N|.	0.004191|.	T|.	0.50137|.	0.1598|.	L|L	0.59436|0.59436	1.845|1.845	0.46849|0.46849	D|D	0.999228|0.999228	D;P;P;P|.	0.57899|.	0.981;0.677;0.813;0.601|.	D;P;P;P|.	0.70935|.	0.971;0.724;0.867;0.87|.	T|.	0.52305|.	-0.8593|.	10|.	0.62326|.	D|.	0.03|.	-0.0024|-0.0024	1.0178|1.0178	0.01511|0.01511	0.408:0.1122:0.2613:0.2186|0.408:0.1122:0.2613:0.2186	.|.	366;263;287;584|.	A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608|.	.;.;.;LRRF2_HUMAN|.	M|E	584;263;584;287;366;287|166	ENSP00000392217:I584M;ENSP00000346349:I263M;ENSP00000338727:I584M;ENSP00000416364:I287M;ENSP00000379705:I366M;ENSP00000405480:I287M|.	ENSP00000338727:I584M|.	I|X	-|-	3|1	3|0	LRRFIP2|LRRFIP2	37075403|37075403	0.953000|0.953000	0.32496|0.32496	0.775000|0.775000	0.31657|0.31657	0.986000|0.986000	0.74619|0.74619	0.148000|0.148000	0.16224|0.16224	-0.117000|-0.117000	0.11872|0.11872	0.529000|0.529000	0.55759|0.55759	ATT|TAG		0.438	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3		NM_006309		9	59	0	0	0	0.004482	0	9	59		
PLCD1	5333	broad.mit.edu	37	3	38050562	38050562	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:38050562A>T	ENST00000334661.4	-	11	1916	c.1694T>A	c.(1693-1695)gTg>gAg	p.V565E	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.V586E	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	565	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCACATCTCCACGGGGCTGTA	0.642																																						uc003chn.2		NaN																	0				skin(1)	1						c.(1693-1695)GTG>GAG		phospholipase C, delta 1 isoform 2							55.0	52.0	53.0					3																	38050562		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050562A>T		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1694T>A	3.37:g.38050562A>T	ENSP00000335600:p.Val565Glu					PLCD1_uc003chm.2_Missense_Mutation_p.V586E	p.V565E	NM_006225	NP_006216	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	11	1818	-			565			PI-PLC Y-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1694T>A	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051989	0.75960	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.64438	-0.1;-0.1	5.19	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	M	0.86343	2.81	0.80722	D	1	D;P	0.89917	1.0;0.95	D;P	0.87578	0.998;0.908	D	0.84725	0.0742	10	0.62326	D	0.03	.	15.0148	0.71576	1.0:0.0:0.0:0.0	.	565;586	P51178;B3KR14	PLCD1_HUMAN;.	E	586;565	ENSP00000430344:V586E;ENSP00000335600:V565E	ENSP00000335600:V565E	V	-	2	0	PLCD1	38025566	0.077000	0.21312	0.997000	0.53966	0.994000	0.84299	2.375000	0.44283	2.109000	0.64355	0.459000	0.35465	GTG		0.642	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2				4	29	0	0	0	0.009096	0	4	29		
TRAK1	22906	broad.mit.edu	37	3	42244140	42244140	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:42244140T>C	ENST00000327628.5	+	13	2040	c.1640T>C	c.(1639-1641)cTg>cCg	p.L547P	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.L489P|TRAK1_ENST00000449246.1_Missense_Mutation_p.L473P|TRAK1_ENST00000341421.3_Missense_Mutation_p.L489P	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	547					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCATGTCCCTGGGCACGCAC	0.622																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2		NaN																	0				ovary(1)	1						c.(1639-1641)CTG>CCG		OGT(O-Glc-NAc transferase)-interacting protein							55.0	61.0	59.0					3																	42244140		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42244140T>C		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1640T>C	3.37:g.42244140T>C	ENSP00000328998:p.Leu547Pro					TRAK1_uc011azh.1_Missense_Mutation_p.L547P|TRAK1_uc011azi.1_Missense_Mutation_p.L547P|TRAK1_uc003ckz.3_Missense_Mutation_p.L473P|TRAK1_uc011azj.1_Missense_Mutation_p.L473P|TRAK1_uc003cla.2_Missense_Mutation_p.L489P	p.L547P	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			13	1856	+			547					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1640T>C	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966368	0.74131	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.95	5.95	0.96441	Trafficking kinesin-binding protein domain (1);	0.000000	0.64402	D	0.000002	T	0.57021	0.2025	L	0.41824	1.3	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;1.0;1.0;1.0;0.328;1.0	D;D;D;D;B;D	0.97110	1.0;1.0;1.0;0.999;0.166;0.995	T	0.59032	-0.7530	10	0.72032	D	0.01	.	15.6048	0.76658	0.0:0.0:0.0:1.0	.	473;489;547;489;473;547	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	P	547;547;473;489;489;265	ENSP00000328998:L547P;ENSP00000410717:L473P;ENSP00000379478:L489P;ENSP00000340702:L489P;ENSP00000413729:L265P	ENSP00000328998:L547P	L	+	2	0	TRAK1	42219144	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	4.193000	0.58385	2.279000	0.76181	0.533000	0.62120	CTG		0.622	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1		NM_014965		22	54	0	0	0	0.014323	0	22	54		
MST1R	4486	broad.mit.edu	37	3	49932949	49932949	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:49932949G>T	ENST00000296474.3	-	13	3022	c.2995C>A	c.(2995-2997)Ctg>Atg	p.L999M	MST1R_ENST00000344206.4_Missense_Mutation_p.L950M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	999					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCTGGTCCAGGGATGCCAGG	0.567																																						uc003cxy.3		NaN																	0				ovary(5)|lung(1)	6						c.(2995-2997)CTG>ATG		macrophage stimulating 1 receptor precursor							69.0	76.0	74.0					3																	49932949		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932949G>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2995C>A	3.37:g.49932949G>T	ENSP00000296474:p.Leu999Met					MST1R_uc011bdc.1_Translation_Start_Site	p.L999M	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	13	3259	-			999			Cytoplasmic (Potential).		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.2995C>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432335	0.43224	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.74842	-0.85;-0.88	5.48	2.6	0.31112	.	0.351696	0.31461	N	0.007609	T	0.74137	0.3677	M	0.64997	1.995	0.23776	N	0.996876	D	0.53619	0.961	P	0.52758	0.708	T	0.63225	-0.6685	10	0.34782	T	0.22	-2.5785	5.7975	0.18396	0.1611:0.0:0.6883:0.1506	.	999	Q04912	RON_HUMAN	M	999;950	ENSP00000296474:L999M;ENSP00000341325:L950M	ENSP00000296474:L999M	L	-	1	2	MST1R	49907953	0.849000	0.29639	0.835000	0.33067	0.240000	0.25518	1.366000	0.34193	0.231000	0.21079	0.491000	0.48974	CTG		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				29	57	1	0	1.75199e-13	0.007291	1.99769e-13	29	57		
TLR9	54106	broad.mit.edu	37	3	52256636	52256636	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:52256636G>A	ENST00000360658.2	-	2	2329	c.1696C>T	c.(1696-1698)Cac>Tac	p.H566Y	TLR9_ENST00000597542.1_Missense_Mutation_p.H590Y|TLR9_ENST00000494383.1_Missense_Mutation_p.P719L	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	566					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CTGAAGTTGTGGCCCACGCCC	0.627																																						uc003dda.1		NaN																	0				large_intestine(2)|skin(2)	4						c.(1696-1698)CAC>TAC		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						52.0	45.0	48.0					3																	52256636		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256636G>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1696C>T	3.37:g.52256636G>A	ENSP00000353874:p.His566Tyr					TLR9_uc003ddb.2_Missense_Mutation_p.H663Y	p.H566Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	2330	-			566			LRR 18.|Extracellular (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.1696C>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.471548|4.471548	0.84533|0.84533	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.79554|.	-1.28|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.43747|.	D|.	0.000540|.	T|T	0.60996|0.60996	0.2312|0.2312	L|L	0.41027|0.41027	1.25|1.25	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.959|.	T|T	0.56475|0.56475	-0.7973|-0.7973	10|5	0.87932|.	D|.	0|.	.|.	16.6381|16.6381	0.85064|0.85064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	663;566|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	Y|L	566|719	ENSP00000353874:H566Y|.	ENSP00000353874:H566Y|.	H|P	-|-	1|2	0|0	TLR9|RP11-330H6.5	52231676|52231676	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.715000|4.715000	0.61909|0.61909	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	CAC|CCA		0.627	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1				14	38	0	0	0	0.00245	0	14	38		
CNTN3	5067	broad.mit.edu	37	3	74414794	74414794	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:74414794A>G	ENST00000263665.6	-	8	1033	c.1006T>C	c.(1006-1008)Tat>Cat	p.Y336H		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	336	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATTCCCAATAAAGACTGTCC	0.448																																						uc003dpm.1		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(1006-1008)TAT>CAT		contactin 3 precursor							195.0	197.0	197.0					3																	74414794		2203	4299	6502	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74414794A>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1006T>C	3.37:g.74414794A>G	ENSP00000263665:p.Tyr336His						p.Y336H	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	8	1086	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	336			Ig-like C2-type 4.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1006T>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	0.827	-0.746578	0.03065	.	.	ENSG00000113805	ENST00000263665	T	0.66638	-0.22	5.37	2.89	0.33648	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.193098	0.46758	N	0.000263	T	0.39489	0.1080	N	0.12853	0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14811	-1.0459	10	0.15499	T	0.54	.	4.05	0.09791	0.681:0.0:0.1685:0.1505	.	336	Q9P232	CNTN3_HUMAN	H	336	ENSP00000263665:Y336H	ENSP00000263665:Y336H	Y	-	1	0	CNTN3	74497484	0.008000	0.16893	0.008000	0.14137	0.367000	0.29736	1.446000	0.35090	0.302000	0.22762	0.482000	0.46254	TAT		0.448	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872		91	201	0	0	0	0.01441	0	91	201		
IFT57	55081	broad.mit.edu	37	3	107881334	107881334	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:107881334C>G	ENST00000264538.3	-	11	1527	c.1280G>C	c.(1279-1281)gGc>gCc	p.G427A	IFT57_ENST00000468021.1_5'Flank	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	427					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTAATAAAAGCCTGTTGCTGG	0.343																																						uc003dwx.3		NaN																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(1279-1281)GGC>GCC		estrogen-related receptor beta like 1							157.0	141.0	146.0					3																	107881334		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107881334C>G	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.1280G>C	3.37:g.107881334C>G	ENSP00000264538:p.Gly427Ala						p.G427A	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		11	1528	-			427					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.1280G>C	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431510	0.25813	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.88	5.0	0.66597	.	0.246207	0.47093	D	0.000250	T	0.54822	0.1882	L	0.44542	1.39	0.40367	D	0.979302	B	0.23650	0.089	B	0.17433	0.018	T	0.56601	-0.7952	9	0.62326	D	0.03	.	14.4381	0.67296	0.0:0.9296:0.0:0.0704	.	427	Q9NWB7	IFT57_HUMAN	A	427	.	ENSP00000264538:G427A	G	-	2	0	IFT57	109364024	1.000000	0.71417	0.990000	0.47175	0.067000	0.16453	3.589000	0.53972	2.787000	0.95880	0.585000	0.79938	GGC		0.343	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1		NM_018010		46	57	0	0	0	0.01441	0	46	57		
PODXL2	50512	broad.mit.edu	37	3	127379999	127379999	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:127379999G>A	ENST00000342480.6	+	3	1167	c.1128G>A	c.(1126-1128)acG>acA	p.T376T		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	376					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.T376T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGATTCTACGCAGGTAAAGT	0.582																																						uc003ejq.2		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1126-1128)ACG>ACA		podocalyxin-like 2 precursor							29.0	25.0	26.0					3																	127379999		2203	4296	6499	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379999G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1128G>A	3.37:g.127379999G>A							p.T376T	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	1152	+			376			Extracellular (Potential).		Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.1128G>A	CCDS3044.1																																																																																				0.582	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1		NM_015720		12	44	0	0	0	0.010729	0	12	44		
PIK3CB	5291	broad.mit.edu	37	3	138474750	138474750	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:138474750T>C	ENST00000477593.1	-	3	316	c.243A>G	c.(241-243)gcA>gcG	p.A81A	PIK3CB_ENST00000289153.2_Silent_p.A81A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GATTCACACATGCAAACATAT	0.368																																						uc011bmq.1		NaN																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(241-243)GCA>GCG		catalytic phosphatidylinositol 3-kinase beta							116.0	115.0	115.0					3																	138474750		2203	4300	6503	SO:0001819	synonymous_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138474750T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.243A>G	3.37:g.138474750T>C							p.A81A	NM_006219	NP_006210	P42338	PK3CB_HUMAN			2	243	-			81			PI3K-ABD.		D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	c.243A>G	CCDS3104.1																																																																																				0.368	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1				21	99	0	0	0	0.010504	0	21	99		
IGSF10	285313	broad.mit.edu	37	3	151161553	151161553	+	Missense_Mutation	SNP	G	G	C	rs143471166		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:151161553G>C	ENST00000282466.3	-	5	5181	c.5182C>G	c.(5182-5184)Ctg>Gtg	p.L1728V	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1728	Ig-like C2-type 3.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCCAAACAGATTGGATGCG	0.517																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(5182-5184)CTG>GTG		immunoglobulin superfamily, member 10 precursor							119.0	103.0	108.0					3																	151161553		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161553G>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5182C>G	3.37:g.151161553G>C	ENSP00000282466:p.Leu1728Val					IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	p.L1728V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5182	-			1728			Ig-like C2-type 3.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5182C>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.717721	0.00706	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66995	-0.24	5.25	3.35	0.38373	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.660770	0.13093	N	0.414405	T	0.47838	0.1467	N	0.17248	0.465	0.20403	N	0.999908	B	0.18166	0.026	B	0.16289	0.015	T	0.27262	-1.0079	9	.	.	.	.	10.0535	0.42230	0.0:0.2434:0.5056:0.251	.	1728	Q6WRI0	IGS10_HUMAN	V	1728;355	ENSP00000282466:L1728V	.	L	-	1	2	IGSF10	152644243	0.512000	0.26186	0.604000	0.28916	0.361000	0.29550	1.499000	0.35671	0.533000	0.28675	-0.302000	0.09304	CTG		0.517	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		41	47	0	0	0	0.007835	0	41	47		
DHX36	170506	broad.mit.edu	37	3	154018863	154018863	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:154018863T>C	ENST00000496811.1	-	10	1351	c.1271A>G	c.(1270-1272)cAa>cGa	p.Q424R	DHX36_ENST00000544526.1_Missense_Mutation_p.Q424R|DHX36_ENST00000308361.6_Missense_Mutation_p.Q424R|DHX36_ENST00000329463.5_Missense_Mutation_p.Q424R	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	424					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACATGCCCTTGCATGAAACC	0.328																																						uc003ezy.3		NaN																	0				skin(1)	1						c.(1270-1272)CAA>CGA		DEAH (Asp-Glu-Ala-His) box polypeptide 36							97.0	102.0	100.0					3																	154018863		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018863T>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1271A>G	3.37:g.154018863T>C	ENSP00000417078:p.Gln424Arg					DHX36_uc010hvq.2_Missense_Mutation_p.Q424R|DHX36_uc003ezz.3_Missense_Mutation_p.Q424R	p.Q424R	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		10	1352	-			424					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1271A>G	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833524	0.50951	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03441	4.09;4.02;3.93;3.93;4.1	5.73	5.73	0.89815	.	0.096778	0.64402	D	0.000001	T	0.03520	0.0101	N	0.21142	0.635	0.46478	D	0.999068	P;B;B	0.40083	0.702;0.06;0.02	B;B;B	0.34093	0.175;0.007;0.021	T	0.56786	-0.7921	10	0.45353	T	0.12	.	16.0307	0.80574	0.0:0.0:0.0:1.0	.	424;424;424	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	R	424;424;424;424;338	ENSP00000417078:Q424R;ENSP00000309296:Q424R;ENSP00000444247:Q424R;ENSP00000330113:Q424R;ENSP00000419862:Q338R	ENSP00000309296:Q424R	Q	-	2	0	DHX36	155501557	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.502000	0.73695	2.190000	0.69967	0.455000	0.32223	CAA		0.328	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1		NM_020865		60	83	0	0	0	0.01441	0	60	83		
TP63	8626	broad.mit.edu	37	3	189349307	189349307	+	Start_Codon_SNP	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:189349307G>A	ENST00000264731.3	+	1	92	c.3G>A	c.(1-3)atG>atA	p.M1I	TP63_ENST00000418709.2_Start_Codon_SNP_p.M1I|TP63_ENST00000392460.3_Start_Codon_SNP_p.M1I|TP63_ENST00000382063.4_Start_Codon_SNP_p.M1I|TP63_ENST00000320472.5_Start_Codon_SNP_p.M1I|TP63_ENST00000440651.2_Start_Codon_SNP_p.M1I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	1	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAAGGAAATGAATTTTGAAA	0.373										HNSCC(45;0.13)																												uc003fry.2		NaN																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1-3)ATG>ATA		tumor protein p63 isoform 1							153.0	144.0	147.0					3																	189349307		2203	4300	6503	SO:0001582	initiator_codon_variant	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349307G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.3G>A	3.37:g.189349307G>A	ENSP00000264731:p.Met1Ile	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.M1I|TP63_uc003frz.2_Missense_Mutation_p.M1I|TP63_uc010hzc.1_Missense_Mutation_p.M1I	p.M1I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	92	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		1			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.3G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547182	0.45383	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99674	-5.9;-6.21;-6.15;-6.14;-5.9;-6.36	5.72	5.72	0.89469	.	0.166049	0.43919	D	0.000520	D	0.99408	0.9791	.	.	.	0.80722	D	1	P;B;P;B	0.39044	0.656;0.393;0.525;0.393	P;P;B;P	0.48627	0.584;0.584;0.38;0.584	D	0.99905	1.1176	8	.	.	.	-19.0872	18.8671	0.92296	0.0:0.0:1.0:0.0	.	1;1;1;1	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	I	1	ENSP00000264731:M1I;ENSP00000407144:M1I;ENSP00000317510:M1I;ENSP00000376253:M1I;ENSP00000394337:M1I;ENSP00000371495:M1I	.	M	+	3	0	TP63	190832001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.918000	0.75788	2.695000	0.91970	0.655000	0.94253	ATG		0.373	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722	Missense_Mutation	61	127	0	0	0	0.01441	0	61	127		
SLC34A2	10568	broad.mit.edu	37	4	25677925	25677925	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:25677925A>T	ENST00000382051.3	+	13	1677	c.1627A>T	c.(1627-1629)Acg>Tcg	p.T543S	SLC34A2_ENST00000503434.1_Missense_Mutation_p.T542S|SLC34A2_ENST00000504570.1_Missense_Mutation_p.T542S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	543					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GATCCCGCTGACGGTGTTTGG	0.607			T	ROS1	NSCLC																																	uc003grr.2		NaN		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(1627-1629)ACG>TCG		solute carrier family 34 (sodium phosphate),							154.0	145.0	148.0					4																	25677925		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677925A>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1627A>T	4.37:g.25677925A>T	ENSP00000371483:p.Thr543Ser					SLC34A2_uc003grs.2_Missense_Mutation_p.T542S|SLC34A2_uc010iev.2_Missense_Mutation_p.T542S	p.T543S	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1708	+		Breast(46;0.0503)	543			Helical; Name=M7; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1627A>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550521	0.27739	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.23950	1.89;1.88;1.89	5.18	-7.76	0.01232	.	0.998226	0.08114	N	0.995675	T	0.17280	0.0415	L	0.46157	1.445	0.20074	N	0.999933	B;B	0.13145	0.007;0.002	B;B	0.14023	0.01;0.006	T	0.22173	-1.0224	10	0.40728	T	0.16	0.0068	6.0613	0.19839	0.3813:0.0:0.193:0.4256	.	542;543	O95436-2;O95436	.;NPT2B_HUMAN	S	542;543;542	ENSP00000425501:T542S;ENSP00000371483:T543S;ENSP00000423021:T542S	ENSP00000371483:T543S	T	+	1	0	SLC34A2	25287023	0.000000	0.05858	0.001000	0.08648	0.848000	0.48234	-3.122000	0.00594	-2.150000	0.00796	-1.288000	0.01363	ACG		0.607	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1		NM_006424		48	73	0	0	0	0.01441	0	48	73		
TMPRSS11B	132724	broad.mit.edu	37	4	69101967	69101967	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:69101967G>T	ENST00000332644.5	-	3	303	c.142C>A	c.(142-144)Caa>Aaa	p.Q48K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	48	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAATCACCTTGATAATAGTAA	0.328																																						uc003hdw.3		NaN																	0				ovary(1)	1						c.(142-144)CAA>AAA		transmembrane protease, serine 11B							36.0	36.0	36.0					4																	69101967		2198	4292	6490	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101967G>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.142C>A	4.37:g.69101967G>T	ENSP00000330475:p.Gln48Lys						p.Q48K	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			3	278	-			48			SEA.|Extracellular (Potential).		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.142C>A	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.835071	0.32421	.	.	ENSG00000185873	ENST00000332644	T	0.38240	1.15	4.1	3.23	0.37069	SEA (1);	0.195458	0.25230	N	0.032164	T	0.38585	0.1046	M	0.69823	2.125	0.26429	N	0.975967	P	0.34462	0.454	B	0.38156	0.266	T	0.27088	-1.0084	10	0.40728	T	0.16	.	9.704	0.40205	0.0:0.2123:0.7877:0.0	.	48	Q86T26	TM11B_HUMAN	K	48	ENSP00000330475:Q48K	ENSP00000330475:Q48K	Q	-	1	0	TMPRSS11B	68784562	0.919000	0.31177	0.923000	0.36655	0.980000	0.70556	0.802000	0.27069	1.040000	0.40099	0.585000	0.79938	CAA		0.328	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2		NM_182502		3	18	1	0	2.56e-06	0.009096	2.68944e-06	3	18		
ANK2	287	broad.mit.edu	37	4	114170923	114170923	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:114170923G>A	ENST00000357077.4	+	10	948	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	ANK2_ENST00000394537.3_Missense_Mutation_p.G299R|ANK2_ENST00000506722.1_Missense_Mutation_p.G278R|ANK2_ENST00000264366.6_Missense_Mutation_p.G299R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	299					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCAGGATGGGTTGACACC	0.458																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(895-897)GGG>AGG		ankyrin 2 isoform 1							76.0	75.0	75.0					4																	114170923		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114170923G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.895G>A	4.37:g.114170923G>A	ENSP00000349588:p.Gly299Arg					ANK2_uc003ibd.3_Missense_Mutation_p.G278R|ANK2_uc003ibf.3_Missense_Mutation_p.G299R|ANK2_uc003ibc.2_Missense_Mutation_p.G275R|ANK2_uc011cgb.1_Missense_Mutation_p.G314R	p.G299R	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	10	995	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	299			ANK 9.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.895G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054741	0.93793	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.78246	-0.76;1.58;1.58;1.58;-1.16;1.58;1.58	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000025	D	0.89698	0.6790	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90212	0.4265	10	0.87932	D	0	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	299;299;299;278;278	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	278;278;278;314;299;299;299;278	ENSP00000423799:G278R;ENSP00000421011:G278R;ENSP00000421067:G278R;ENSP00000424722:G314R;ENSP00000378044:G299R;ENSP00000349588:G299R;ENSP00000264366:G299R	ENSP00000264366:G299R	G	+	1	0	ANK2	114390372	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	9.869000	0.99810	2.756000	0.94617	0.561000	0.74099	GGG		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		5	22	0	0	0	0.001168	0	5	22		
FGA	2243	broad.mit.edu	37	4	155508016	155508016	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:155508016C>A	ENST00000302053.3	-	5	643	c.565G>T	c.(565-567)Gct>Tct	p.A189S	FGA_ENST00000403106.3_Missense_Mutation_p.A189S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	189					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTTCACGAGCTAAAGCCCTA	0.418																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	0				ovary(2)|breast(1)	3						c.(565-567)GCT>TCT		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						108.0	109.0	109.0					4																	155508016		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508016C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.565G>T	4.37:g.155508016C>A	ENSP00000306361:p.Ala189Ser					FGA_uc003ioe.1_Missense_Mutation_p.A189S|FGA_uc003iof.1_Intron	p.A189S	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	623	-	all_hematologic(180;0.215)	Renal(120;0.0458)	189			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.565G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	2.780	-0.253744	0.05829	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.82167	-1.58;-1.58	5.87	-2.92	0.05615	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	2.446060	0.01633	N	0.023620	T	0.61236	0.2331	N	0.04959	-0.14	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.49753	-0.8906	10	0.22109	T	0.4	.	1.2007	0.01884	0.2627:0.3155:0.0893:0.3325	.	189;189	P02671-2;P02671	.;FIBA_HUMAN	S	189	ENSP00000306361:A189S;ENSP00000385981:A189S	ENSP00000306361:A189S	A	-	1	0	FGA	155727466	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.433000	0.06948	-0.421000	0.07416	-0.150000	0.13652	GCT		0.418	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		6	75	1	0	0.00198382	0.001984	0.00203832	6	75		
GUCY1A3	2982	broad.mit.edu	37	4	156631990	156631990	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:156631990G>A	ENST00000296518.7	+	6	882	c.673G>A	c.(673-675)Gta>Ata	p.V225I	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V225I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V225I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V225I|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V225I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V225I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	225					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGCTGCTCACGTATTATATGA	0.448																																						uc003iov.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(673-675)GTA>ATA		guanylate cyclase 1, soluble, alpha 3 isoform A							110.0	109.0	109.0					4																	156631990		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631990G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.673G>A	4.37:g.156631990G>A	ENSP00000296518:p.Val225Ile					GUCY1A3_uc003iou.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V225I|GUCY1A3_uc003iow.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.V224I|GUCY1A3_uc003iox.2_Missense_Mutation_p.V225I|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.V225I	p.V225I	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1209	+	all_hematologic(180;0.24)	Renal(120;0.0854)	225					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.673G>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.498589	0.01001	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.74	-1.21	0.09524	Heme-NO binding (1);	1.026980	0.07725	N	0.944410	T	0.15955	0.0384	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26292	-1.0107	10	0.20046	T	0.44	.	7.7973	0.29154	0.5275:0.1085:0.364:0.0	.	225;225;225	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	I	225	ENSP00000424361:V225I;ENSP00000421493:V225I;ENSP00000426968:V225I;ENSP00000412201:V225I;ENSP00000296518:V225I;ENSP00000426040:V225I	ENSP00000296518:V225I	V	+	1	0	GUCY1A3	156851440	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.193000	0.17116	-0.080000	0.12685	0.643000	0.83706	GTA		0.448	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2				29	74	0	0	0	0.00632	0	29	74		
HMGB2	3148	broad.mit.edu	37	4	174253977	174253977	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr4:174253977C>T	ENST00000296503.5	-	4	1339	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	HMGB2_ENST00000438704.2_Missense_Mutation_p.E156K|HMGB2_ENST00000446922.2_Missense_Mutation_p.E156K			P26583	HMGB2_HUMAN	high mobility group box 2	156					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGTACCTTTTCATATTTCTCC	0.363																																						uc011ckc.1		NaN																	0					0						c.(466-468)GAA>AAA		high-mobility group box 2							222.0	233.0	229.0					4																	174253977		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253977C>T		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.466G>A	4.37:g.174253977C>T	ENSP00000296503:p.Glu156Lys					HMGB2_uc003ita.3_Missense_Mutation_p.E156K|HMGB2_uc003itb.2_Missense_Mutation_p.E156K|HMGB2_uc003itc.2_3'UTR	p.E156K	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	3	586	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	156			HMG box 2.		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.466G>A	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790906	0.70452	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704	D;D;D	0.98090	-4.71;-4.71;-4.71	5.06	5.06	0.68205	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000012	D	0.96355	0.8811	L	0.42744	1.35	0.80722	D	1	B	0.30114	0.269	B	0.36289	0.221	D	0.95243	0.8353	10	0.48119	T	0.1	.	18.6138	0.91295	0.0:1.0:0.0:0.0	.	156	P26583	HMGB2_HUMAN	K	156	ENSP00000296503:E156K;ENSP00000393448:E156K;ENSP00000404912:E156K	ENSP00000296503:E156K	E	-	1	0	HMGB2	174490552	1.000000	0.71417	0.994000	0.49952	0.622000	0.37654	7.556000	0.82233	2.626000	0.88956	0.563000	0.77884	GAA		0.363	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1		NM_001130688		85	116	0	0	0	0.01441	0	85	116		
NPR3	4883	broad.mit.edu	37	5	32780872	32780872	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:32780872G>A	ENST00000265074.8	+	5	1583	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	NPR3_ENST00000434067.2_Missense_Mutation_p.G198R|NPR3_ENST00000415685.2_Missense_Mutation_p.G198R|NPR3_ENST00000415167.2_Missense_Mutation_p.G414R|AC026703.2_ENST00000607869.1_RNA	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	414					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGACCGATATGGGGATTTCTC	0.547																																						uc003jhv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1240-1242)GGG>AGG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						170.0	186.0	181.0					5																	32780872		2193	4288	6481	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32780872G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1240G>A	5.37:g.32780872G>A	ENSP00000265074:p.Gly414Arg					NPR3_uc010iuo.2_Missense_Mutation_p.G198R|NPR3_uc011cnz.1_Missense_Mutation_p.G198R|NPR3_uc003jhu.2_Missense_Mutation_p.G414R	p.G414R	NM_000908	NP_000899	P17342	ANPRC_HUMAN			5	1458	+			414			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1240G>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986947	0.93106	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;D;D	0.82526	-0.9;-0.9;-0.9;-1.62;-1.62	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91523	0.7323	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90456	0.4442	10	0.46703	T	0.11	-24.4873	20.0887	0.97806	0.0:0.0:1.0:0.0	.	198;198;414;414	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	R	191;198;198;414;414	ENSP00000425325:G191R;ENSP00000388408:G198R;ENSP00000402490:G198R;ENSP00000265074:G414R;ENSP00000398028:G414R	ENSP00000265074:G414R	G	+	1	0	NPR3	32816629	1.000000	0.71417	0.969000	0.41365	0.766000	0.43426	7.474000	0.81024	2.825000	0.97269	0.655000	0.94253	GGG		0.547	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3		NM_000908		70	148	0	0	0	0.01441	0	70	148		
BDP1	55814	broad.mit.edu	37	5	70761989	70761989	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:70761989A>G	ENST00000358731.4	+	5	989	c.726A>G	c.(724-726)ccA>ccG	p.P242P	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	242	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGATGGGCCATTACTGGTTC	0.368																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(724-726)CCA>CCG		transcription factor-like nuclear regulator							138.0	128.0	131.0					5																	70761989		1889	4124	6013	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70761989A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.726A>G	5.37:g.70761989A>G						BDP1_uc003kbn.1_Silent_p.P242P|BDP1_uc003kbo.2_Silent_p.P242P	p.P242P	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	5	989	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	242			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.726A>G	CCDS43328.1																																																																																				0.368	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		41	53	0	0	0	0.009718	0	41	53		
ZNF608	57507	broad.mit.edu	37	5	123983756	123983756	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:123983756G>C	ENST00000306315.5	-	4	2756	c.2321C>G	c.(2320-2322)aCt>aGt	p.T774S	ZNF608_ENST00000504926.1_Missense_Mutation_p.T347S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	774							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGAACAACAGTTGTTGTGAG	0.552																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(2320-2322)ACT>AGT		zinc finger protein 608							118.0	116.0	117.0					5																	123983756		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983756G>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2321C>G	5.37:g.123983756G>C	ENSP00000307746:p.Thr774Ser					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.T774S|ZNF608_uc003ktt.1_Missense_Mutation_p.T774S	p.T774S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2444	-		all_cancers(142;0.186)|Prostate(80;0.081)	774					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.2321C>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790655	0.50102	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.47869	0.84;0.83	6.01	6.01	0.97437	.	0.049633	0.85682	D	0.000000	T	0.57577	0.2063	M	0.65498	2.005	0.45035	D	0.998055	P	0.51147	0.942	P	0.48304	0.573	T	0.52328	-0.8590	10	0.32370	T	0.25	-22.9301	20.5161	0.99213	0.0:0.0:1.0:0.0	.	774	Q9ULD9	ZN608_HUMAN	S	347;774	ENSP00000427657:T347S;ENSP00000307746:T774S	ENSP00000307746:T774S	T	-	2	0	ZNF608	124011655	1.000000	0.71417	0.136000	0.22124	0.909000	0.53808	6.292000	0.72725	2.852000	0.98041	0.643000	0.83706	ACT		0.552	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		5	81	0	0	0	0.000602	0	5	81		
GRM6	2916	broad.mit.edu	37	5	178416401	178416401	+	Missense_Mutation	SNP	C	C	T	rs533525913		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:178416401C>T	ENST00000517717.1	-	6	1056	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	GRM6_ENST00000231188.5_Missense_Mutation_p.D340N|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	340					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGTACTGGTCAAATCCTACA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		14566	0.001		0.0	False		,,,				2504	0.0					uc003mjr.2		NaN																	0				lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1018-1020)GAC>AAC		glutamate receptor, metabotropic 6 precursor							94.0	97.0	96.0					5																	178416401		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416401C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1018G>A	5.37:g.178416401C>T	ENSP00000430767:p.Asp340Asn					GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	p.D340N	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1197	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	340			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.1018G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250329	0.80024	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83335	-1.71;-1.71	5.07	5.07	0.68467	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.85557	0.5724	M	0.74389	2.26	0.51482	D	0.999926	P	0.35192	0.489	B	0.41691	0.364	D	0.86244	0.1645	9	0.52906	T	0.07	.	16.3378	0.83071	0.0:1.0:0.0:0.0	.	340	O15303	GRM6_HUMAN	N	372;340;340	ENSP00000231188:D340N;ENSP00000430767:D340N	ENSP00000231188:D340N	D	-	1	0	GRM6	178349007	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.918000	0.69996	2.518000	0.84900	0.655000	0.94253	GAC		0.527	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2				13	68	0	0	0	0.013537	0	13	68		
GRM6	2916	broad.mit.edu	37	5	178416406	178416406	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr5:178416406C>T	ENST00000517717.1	-	6	1051	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	GRM6_ENST00000231188.5_Splice_Site_p.G338E|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	338					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTGGTCAAATCCTACAGACAG	0.532																																						uc003mjr.2		NaN																	0				lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1012-1014)GGA>GAA		glutamate receptor, metabotropic 6 precursor							90.0	94.0	93.0					5																	178416406		2203	4300	6503	SO:0001630	splice_region_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416406C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1013-1G>A	5.37:g.178416406C>T						GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	p.G338E	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1192	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	338			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.1013G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439099	0.83885	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.87103	-2.21;-2.21	5.07	5.07	0.68467	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.90256	0.6953	M	0.66506	2.035	0.80722	D	1	P	0.50156	0.932	P	0.53102	0.718	D	0.90432	0.4425	9	0.49607	T	0.09	.	16.3378	0.83071	0.0:1.0:0.0:0.0	.	338	O15303	GRM6_HUMAN	E	370;338;338	ENSP00000231188:G338E;ENSP00000430767:G338E	ENSP00000231188:G338E	G	-	2	0	GRM6	178349012	1.000000	0.71417	0.710000	0.30468	0.102000	0.19082	4.829000	0.62737	2.518000	0.84900	0.655000	0.94253	GGA		0.532	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			Missense_Mutation	11	66	0	0	0	0.008291	0	11	66		
TFAP2A	7020	broad.mit.edu	37	6	10410399	10410399	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:10410399G>A	ENST00000482890.1	-	3	567	c.215C>T	c.(214-216)cCt>cTt	p.P72L	TFAP2A_ENST00000319516.4_Missense_Mutation_p.P68L|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P66L|TFAP2A_ENST00000379604.2_Missense_Mutation_p.P72L|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379613.3_Missense_Mutation_p.P74L|TFAP2A_ENST00000497266.1_Intron			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	72	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P66R(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTGGGAGTAAGGATCTTGCGA	0.672																																						uc003myr.2		NaN																	1	Substitution - Missense(1)	p.P66R(1)	ovary(1)	ovary(1)	1						c.(214-216)CCT>CTT		transcription factor AP-2 alpha isoform a							49.0	58.0	55.0					6																	10410399		2203	4299	6502	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10410399G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.215C>T	6.37:g.10410399G>A	ENSP00000418541:p.Pro72Leu					TFAP2A_uc003myq.2_Missense_Mutation_p.P66L|TFAP2A_uc003mys.2_Intron|TFAP2A_uc011dih.1_Missense_Mutation_p.P72L|TFAP2A_uc003myt.2_Missense_Mutation_p.P68L|TFAP2A_uc003myu.1_Missense_Mutation_p.P72L|TFAP2A_uc003myv.1_Missense_Mutation_p.P58L|TFAP2A_uc011dii.1_Missense_Mutation_p.P68L|uc003myw.2_5'Flank	p.P72L	NM_003220	NP_003211	P05549	AP2A_HUMAN			2	467	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	72			Gln/Pro-rich (transactivation domain).		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.215C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827318	0.90955	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000465858	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.991;0.932;0.996;0.991;0.991;0.999	D	0.87162	0.2215	10	0.87932	D	0	-2.8984	18.1709	0.89745	0.0:0.0:1.0:0.0	.	74;72;72;74;68;72;66	Q96SH1;C1K3N0;P05549-2;Q96SH0;Q5TAV5;P05549;Q8N1C6	.;.;.;.;.;AP2A_HUMAN;.	L	74;72;68;66;72;72;117	ENSP00000368933:P74L;ENSP00000368924:P72L;ENSP00000316516:P68L;ENSP00000368928:P66L;ENSP00000418541:P72L;ENSP00000417495:P72L;ENSP00000418391:P117L	ENSP00000316516:P68L	P	-	2	0	TFAP2A	10518385	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.863000	0.99569	2.273000	0.75805	0.585000	0.79938	CCT		0.672	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2		NM_003220		8	63	0	0	0	0.004482	0	8	63		
OR2W1	26692	broad.mit.edu	37	6	29012935	29012935	+	Silent	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:29012935A>G	ENST00000377175.1	-	1	82	c.18T>C	c.(16-18)taT>taC	p.Y6Y		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTAAAGAACTATAATTGCTTT	0.398																																						uc003nlw.2		NaN																	0				ovary(2)|skin(1)	3						c.(16-18)TAT>TAC		olfactory receptor, family 2, subfamily W,							74.0	80.0	78.0					6																	29012935		1298	2582	3880	SO:0001819	synonymous_variant	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012935A>G	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.18T>C	6.37:g.29012935A>G							p.Y6Y	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	18	-			6			Extracellular (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	c.18T>C	CCDS4656.1																																																																																				0.398	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2				28	51	0	0	0	0.00632	0	28	51		
CCHCR1	54535	broad.mit.edu	37	6	31110378	31110378	+	Missense_Mutation	SNP	C	C	T	rs370915688		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:31110378C>T	ENST00000376266.5	-	18	2462	c.2340G>A	c.(2338-2340)atG>atA	p.M780I	CCHCR1_ENST00000396263.2_Missense_Mutation_p.M727I|CCHCR1_ENST00000451521.2_Missense_Mutation_p.M833I|CCHCR1_ENST00000396268.3_Missense_Mutation_p.M869I	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	780					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTTAGCTGCTCATCTGGGGAT	0.577																																						uc003nsr.3		NaN																	0				skin(1)	1						c.(2338-2340)ATG>ATA		coiled-coil alpha-helical rod protein 1 isoform		C	ILE/MET,ILE/MET,ILE/MET	0,4406		0,0,2203	82.0	71.0	75.0		2499,2607,2340	1.7	0.0	6		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	10,10,10	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	833/836,869/872,780/783	31110378	1,13005	2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110378C>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2340G>A	6.37:g.31110378C>T	ENSP00000365442:p.Met780Ile					CCHCR1_uc011dne.1_Missense_Mutation_p.M766I|CCHCR1_uc003nsq.3_Missense_Mutation_p.M833I|CCHCR1_uc003nsp.3_Missense_Mutation_p.M869I	p.M780I	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			18	2463	-			780					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2340G>A	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513314	0.27123	0.0	1.16E-4	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	4.83	1.68	0.24146	.	4.964690	0.00589	U	0.000354	T	0.00754	0.0025	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.002	T	0.47235	-0.9133	10	0.87932	D	0	12.3912	2.3773	0.04345	0.212:0.5007:0.1799:0.1074	.	766;780;833;869	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	I	869;780;727;766;833	ENSP00000379566:M869I;ENSP00000365442:M780I;ENSP00000379561:M727I;ENSP00000401039:M833I	ENSP00000365442:M780I	M	-	3	0	CCHCR1	31218357	0.025000	0.19082	0.040000	0.18447	0.109000	0.19521	0.674000	0.25218	0.581000	0.29539	0.549000	0.68633	ATG		0.577	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5		NM_019052		17	36	0	0	0	0.004007	0	17	36		
PGC	5225	broad.mit.edu	37	6	41712175	41712175	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:41712175G>A	ENST00000373025.3	-	3	350	c.288C>T	c.(286-288)aaC>aaT	p.N96N	PGC_ENST00000425343.2_Silent_p.N96N	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	96					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCACCCACAAGTTGGAGGAGC	0.612																																						uc003ora.1		NaN																	0					0						c.(286-288)AAC>AAT		progastricsin (pepsinogen C) precursor							66.0	68.0	67.0					6																	41712175		2203	4300	6503	SO:0001819	synonymous_variant	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41712175G>A		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.288C>T	6.37:g.41712175G>A							p.N96N	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		3	337	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		96					B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	37	c.288C>T	CCDS4859.1																																																																																				0.612	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2				21	50	0	0	0	0.014323	0	21	50		
TRERF1	55809	broad.mit.edu	37	6	42203985	42203985	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:42203985C>A	ENST00000372922.4	-	16	3586	c.3024G>T	c.(3022-3024)caG>caT	p.Q1008H	TRERF1_ENST00000541110.1_Missense_Mutation_p.Q1028H|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q925H|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q925H|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q925H	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1008	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCCTGAGGGCTGGCCCAGGG	0.627																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3022-3024)CAG>CAT		transcriptional regulating factor 1							42.0	49.0	47.0					6																	42203985		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42203985C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3024G>T	6.37:g.42203985C>A	ENSP00000362013:p.Gln1008His					TRERF1_uc011duq.1_Missense_Mutation_p.Q925H|TRERF1_uc003osb.2_Missense_Mutation_p.Q764H|TRERF1_uc003osc.2_Missense_Mutation_p.Q764H|TRERF1_uc003ose.2_Missense_Mutation_p.Q1028H	p.Q1008H	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		16	3587	-	Colorectal(47;0.196)		1008			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3024G>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468845	0.43839	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12465	2.86;2.7;2.86;2.7;2.68	5.61	2.71	0.32032	.	0.370012	0.23062	N	0.052375	T	0.01353	0.0044	N	0.02011	-0.69	0.30982	N	0.722371	B;B;B;B;B	0.26577	0.004;0.003;0.003;0.004;0.153	B;B;B;B;B	0.20577	0.004;0.002;0.002;0.004;0.03	T	0.41698	-0.9494	10	0.41790	T	0.15	-17.0769	4.3185	0.11005	0.2324:0.5548:0.1247:0.0881	.	925;1028;1008;764;764	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	H	1028;925;1008;925;925	ENSP00000439689:Q1028H;ENSP00000362008:Q925H;ENSP00000362013:Q1008H;ENSP00000339438:Q925H;ENSP00000346285:Q925H	ENSP00000339438:Q925H	Q	-	3	2	TRERF1	42311963	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.482000	0.22276	1.337000	0.45525	0.655000	0.94253	CAG		0.627	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		6	14	1	0	2.0095e-06	0.001984	2.13509e-06	6	14		
DPPA5	340168	broad.mit.edu	37	6	74063929	74063929	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:74063929C>T	ENST00000370370.3	-	1	89	c.20G>A	c.(19-21)cGt>cAt	p.R7H		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	7					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						GATATGTCTACGTGCCGGGAG	0.572																																						uc003pgs.1		NaN																	0					0						c.(19-21)CGT>CAT		developmental pluripotency associated 5							63.0	56.0	58.0					6																	74063929		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063929C>T		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.20G>A	6.37:g.74063929C>T	ENSP00000359396:p.Arg7His						p.R7H	NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN			1	25	-			7					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.20G>A	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338414	0.24253	.	.	ENSG00000203909	ENST00000370370	T	0.31769	1.48	3.6	2.74	0.32292	.	0.304899	0.24134	N	0.041228	T	0.18130	0.0435	N	0.17082	0.46	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.03335	-1.1047	10	0.45353	T	0.12	.	7.3638	0.26762	0.0:0.8799:0.0:0.1201	.	7	A6NC42	DPPA5_HUMAN	H	7	ENSP00000359396:R7H	ENSP00000359396:R7H	R	-	2	0	DPPA5	74120650	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	0.034000	0.13776	1.126000	0.42016	-0.343000	0.07986	CGT		0.572	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3		NM_001025290		4	29	0	0	0	0.009096	0	4	29		
TPBG	7162	broad.mit.edu	37	6	83075858	83075858	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:83075858G>T	ENST00000369750.3	+	2	1797	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y	TPBG_ENST00000543496.1_Missense_Mutation_p.D394Y|TPBG_ENST00000535040.1_Missense_Mutation_p.D394Y			Q13641	TPBG_HUMAN	trophoblast glycoprotein	394					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TGCCTGCAGGGATCACATGGA	0.423																																						uc003pjn.3		NaN																	0				central_nervous_system(1)	1						c.(1180-1182)GAT>TAT		trophoblast glycoprotein precursor							79.0	80.0	80.0					6																	83075858		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075858G>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1180G>T	6.37:g.83075858G>T	ENSP00000358765:p.Asp394Tyr					TPBG_uc010kbj.2_Missense_Mutation_p.D394Y|TPBG_uc003pjo.2_Missense_Mutation_p.D394Y	p.D394Y	NM_006670	NP_006661	Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	3	2116	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	394			Cytoplasmic (Potential).		A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.1180G>T	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267193	0.80469	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.66638	-0.22;-0.22;-0.22	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.77883	0.4197	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.78593	-0.2144	10	0.72032	D	0.01	-13.5531	19.9161	0.97063	0.0:0.0:1.0:0.0	.	394	Q13641	TPBG_HUMAN	Y	394	ENSP00000441219:D394Y;ENSP00000358765:D394Y;ENSP00000440049:D394Y	ENSP00000358765:D394Y	D	+	1	0	TPBG	83132577	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.710000	0.92621	0.650000	0.86243	GAT		0.423	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1				19	63	1	0	1.50039e-11	0.012319	1.68008e-11	19	63		
CCDC170	80129	broad.mit.edu	37	6	151907137	151907137	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr6:151907137G>A	ENST00000239374.7	+	7	1305	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	CCDC170_ENST00000367290.5_Silent_p.E402E	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	402																	ATATGTTGGAGACTCTTCAGG	0.473																																						uc003qol.2		NaN																	0					0						c.(1204-1206)GAG>GAA		hypothetical protein LOC80129							65.0	64.0	64.0					6																	151907137		1902	4128	6030	SO:0001819	synonymous_variant	80129							g.chr6:151907137G>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1206G>A	6.37:g.151907137G>A							p.E402E	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	7	1295	+		Ovarian(120;0.126)	402			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1206G>A	CCDS43515.1																																																																																				0.473	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2		NM_025059		4	13	0	0	0	0.000602	0	4	13		
ETV1	2115	broad.mit.edu	37	7	13971355	13971355	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:13971355C>G	ENST00000430479.1	-	9	1241	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	ETV1_ENST00000405358.4_Missense_Mutation_p.E206Q|ETV1_ENST00000242066.5_Missense_Mutation_p.E174Q|ETV1_ENST00000405218.2_Missense_Mutation_p.E192Q|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.E152Q|ETV1_ENST00000399357.3_Missense_Mutation_p.E89Q|ETV1_ENST00000343495.5_Missense_Mutation_p.E174Q|ETV1_ENST00000403685.1_Missense_Mutation_p.E174Q|ETV1_ENST00000405192.2_Missense_Mutation_p.E192Q|ETV1_ENST00000420159.2_Missense_Mutation_p.E134Q	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	192					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTACAGGGTTCAGAAAGCTGG	0.468			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1		NaN		Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	0				prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(574-576)GAA>CAA		ets variant gene 1 isoform a							85.0	84.0	84.0					7																	13971355		1963	4138	6101	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971355C>G		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.574G>C	7.37:g.13971355C>G	ENSP00000405327:p.Glu192Gln					ETV1_uc011jxn.1_Missense_Mutation_p.E152Q|ETV1_uc011jxo.1_Missense_Mutation_p.E89Q|ETV1_uc011jxp.1_Missense_Mutation_p.E134Q|ETV1_uc003ssw.3_Missense_Mutation_p.E192Q|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.E174Q|ETV1_uc011jxs.1_Missense_Mutation_p.E174Q|ETV1_uc010ktv.2_Missense_Mutation_p.E61Q	p.E192Q	NM_004956	NP_004947	P50549	ETV1_HUMAN			9	1313	-			192					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.574G>C	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999022	0.93227	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	M	0.73217	2.22	0.35265	D	0.779918	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.996;0.997;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.987;0.996;0.986;0.997;0.992;0.99;0.997	T	0.64309	-0.6438	10	0.66056	D	0.02	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	203;174;206;134;89;152;134;192	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	Q	192;174;174;134;89;192;206;152;192;174;134;89	ENSP00000405327:E192Q;ENSP00000242066:E174Q;ENSP00000340853:E174Q;ENSP00000411626:E134Q;ENSP00000382293:E89Q;ENSP00000385381:E192Q;ENSP00000384085:E206Q;ENSP00000384138:E152Q;ENSP00000385551:E192Q;ENSP00000385686:E174Q;ENSP00000393078:E134Q;ENSP00000394710:E89Q	ENSP00000242066:E174Q	E	-	1	0	ETV1	13937880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	GAA		0.468	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1		NM_004956		6	34	0	0	0	0.004482	0	6	34		
EVX1	2128	broad.mit.edu	37	7	27282715	27282715	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:27282715G>C	ENST00000496902.4	+	1	552	c.66G>C	c.(64-66)aaG>aaC	p.K22N	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_5'Flank|EVX1_ENST00000222761.3_Missense_Mutation_p.K22N|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1-AS_ENST00000519050.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	22					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TGGTTGGCAAGAGAGTCTCAA	0.652																																						uc003szd.1		NaN																	0				skin(1)	1						c.(64-66)AAG>AAC		even-skipped homeobox 1							40.0	43.0	42.0					7																	27282715		2203	4300	6503	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27282715G>C		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.66G>C	7.37:g.27282715G>C	ENSP00000419266:p.Lys22Asn					EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Missense_Mutation_p.K22N	p.K22N	NM_001989	NP_001980	P49640	EVX1_HUMAN			1	552	+			22					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.66G>C	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389985	0.61956	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.95482	-3.72	5.19	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71184	0.964;0.972	D	0.97338	0.9955	10	0.87932	D	0	-20.1793	13.8927	0.63750	0.0741:0.0:0.9259:0.0	.	22;22	F8W9J5;P49640	.;EVX1_HUMAN	N	22	ENSP00000419266:K22N	ENSP00000222761:K22N	K	+	3	2	EVX1	27249240	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.378000	0.59568	1.181000	0.42912	0.462000	0.41574	AAG		0.652	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3				4	8	0	0	0	0.001168	0	4	8		
CCDC129	223075	broad.mit.edu	37	7	31683174	31683174	+	Silent	SNP	C	C	T	rs375422464		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:31683174C>T	ENST00000407970.3	+	11	2228	c.2190C>T	c.(2188-2190)ccC>ccT	p.P730P	CCDC129_ENST00000409210.1_Silent_p.P638P|CCDC129_ENST00000451887.2_Silent_p.P756P|CCDC129_ENST00000319386.3_Silent_p.P582P	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	730										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGACTGGTCCCAGAGGAACAT	0.507																																						uc003tcj.1		NaN																	0					0						c.(2188-2190)CCC>CCT		coiled-coil domain containing 129							90.0	93.0	92.0					7																	31683174		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31683174C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2190C>T	7.37:g.31683174C>T						CCDC129_uc011kad.1_Silent_p.P740P|CCDC129_uc003tci.1_Silent_p.P581P|CCDC129_uc011kae.1_Silent_p.P756P|CCDC129_uc003tck.1_Silent_p.P638P	p.P730P	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3183	+			730					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.2190C>T	CCDS5435.2																																																																																				0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1		NM_194300		16	50	0	0	0	0.004007	0	16	50		
NME8	51314	broad.mit.edu	37	7	37904018	37904018	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:37904018A>G	ENST00000199447.4	+	9	895	c.523A>G	c.(523-525)Aga>Gga	p.R175G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R175G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	175	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AGAAATTAAAAGAAAAGTAAG	0.274																																						uc003tfn.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(523-525)AGA>GGA		thioredoxin domain containing 3							18.0	20.0	19.0					7																	37904018		2176	4272	6448	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37904018A>G	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.523A>G	7.37:g.37904018A>G	ENSP00000199447:p.Arg175Gly						p.R175G	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			9	895	+			175			NDK 1.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.523A>G	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	7.629	0.678385	0.14841	.	.	ENSG00000086288	ENST00000199447;ENST00000444718;ENST00000440017	T;T;T	0.54866	0.55;0.55;0.55	4.5	-1.47	0.08772	.	1.678900	0.03041	N	0.153311	T	0.36220	0.0959	N	0.21545	0.675	0.19575	N	0.999962	B	0.09022	0.002	B	0.18263	0.021	T	0.14172	-1.0482	10	0.32370	T	0.25	-0.2481	4.0685	0.09871	0.3441:0.3397:0.3161:0.0	.	175	Q8N427	TXND3_HUMAN	G	175;120;175	ENSP00000199447:R175G;ENSP00000390596:R120G;ENSP00000397063:R175G	ENSP00000199447:R175G	R	+	1	2	TXNDC3	37870543	0.006000	0.16342	0.503000	0.27626	0.143000	0.21401	0.002000	0.13061	-0.077000	0.12752	-0.468000	0.05107	AGA		0.274	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1		NM_016616		3	12	0	0	0	0.004672	0	3	12		
ZMIZ2	83637	broad.mit.edu	37	7	44795867	44795867	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:44795867A>G	ENST00000309315.4	+	2	142	c.19A>G	c.(19-21)Atg>Gtg	p.M7V	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.M7V|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.M7V|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.M7V|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.M7V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	7					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CATGAACCCCATGAAACCTGC	0.607																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NaN																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(19-21)ATG>GTG		zinc finger, MIZ-type containing 2 isoform 1							64.0	70.0	68.0					7																	44795867		1931	4121	6052	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44795867A>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.19A>G	7.37:g.44795867A>G	ENSP00000311778:p.Met7Val					ZMIZ2_uc003tlq.2_Missense_Mutation_p.M7V|ZMIZ2_uc003tls.2_Missense_Mutation_p.M7V	p.M7V	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			2	142	+			7					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.19A>G	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185046	0.38609	.	.	ENSG00000122515	ENST00000413916;ENST00000457123;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.44083	1.14;1.0;1.0;1.1;0.93	4.72	3.55	0.40652	.	0.206543	0.29579	N	0.011759	T	0.29914	0.0748	L	0.29908	0.895	0.42809	D	0.993957	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.10450	0.002;0.005;0.002	T	0.09465	-1.0673	10	0.59425	D	0.04	-14.4738	8.7907	0.34848	0.9038:0.0:0.0961:0.0	.	7;7;7	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	V	7	ENSP00000409648:M7V;ENSP00000311778:M7V;ENSP00000414723:M7V;ENSP00000396601:M7V;ENSP00000265346:M7V	ENSP00000265346:M7V	M	+	1	0	ZMIZ2	44762392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.985000	0.63845	0.817000	0.34445	0.383000	0.25322	ATG		0.607	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1		NM_031449		19	35	0	0	0	0.008871	0	19	35		
ADCY1	107	broad.mit.edu	37	7	45726145	45726145	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:45726145G>A	ENST00000297323.7	+	14	2349		c.e14-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTTCCCCCAGGGGTGGTGCC	0.612																																						uc003tne.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.e14-1		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						45.0	42.0	43.0					7																	45726145		2203	4300	6503	SO:0001630	splice_region_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45726145G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2328-1G>A	7.37:g.45726145G>A							p.G776_splice	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			14	2346	+								A4D2L8|Q75MI1	Splice_Site	SNP	ENST00000297323.7	37	c.2328_splice	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628154	0.66901	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	.	.	.	4.6	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3829	0.44123	0.0984:0.0:0.9016:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCY1	45692670	1.000000	0.71417	0.847000	0.33407	0.482000	0.33219	7.619000	0.83057	1.041000	0.40125	0.561000	0.74099	.		0.612	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2		NM_021116	Intron	12	30	0	0	0	0.001855	0	12	30		
ZNF804B	219578	broad.mit.edu	37	7	88963715	88963715	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:88963715T>C	ENST00000333190.4	+	4	2028	c.1419T>C	c.(1417-1419)taT>taC	p.Y473Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	473							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTATCTCTTATGGCTGCAACC	0.433										HNSCC(36;0.09)																												uc011khi.1		NaN																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1417-1419)TAT>TAC		zinc finger protein 804B							61.0	58.0	59.0					7																	88963715		2203	4296	6499	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963715T>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1419T>C	7.37:g.88963715T>C		HNSCC(36;0.09)					p.Y473Y	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1957	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		473					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1419T>C	CCDS5613.1																																																																																				0.433	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646		25	59	0	0	0	0.003954	0	25	59		
CSMD1	64478	broad.mit.edu	37	8	2824091	2824091	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:2824091C>G	ENST00000520002.1	-	59	9659		c.e59+1		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTTACTAACTTGTGCAGTC	0.443																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.e58+1		CUB and Sushi multiple domains 1 precursor							53.0	55.0	55.0					8																	2824091		2033	4190	6223	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2824091C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9103+1G>C	8.37:g.2824091C>G						CSMD1_uc011kwj.1_Splice_Site_p.I2364_splice|CSMD1_uc010lrg.2_Intron	p.I3035_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	58	9493	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37	c.9103_splice		.	.	.	.	.	.	.	.	.	.	C	16.30	3.085278	0.55861	.	.	ENSG00000183117	ENST00000335551;ENST00000520002;ENST00000318252;ENST00000537824	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3169	0.94218	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2811498	1.000000	0.71417	0.177000	0.23020	0.329000	0.28539	7.642000	0.83385	2.557000	0.86248	0.655000	0.94253	.		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225	Intron	5	12	0	0	0	0.000602	0	5	12		
ZFHX4	79776	broad.mit.edu	37	8	77767234	77767234	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:77767234C>T	ENST00000521891.2	+	10	8525	c.8077C>T	c.(8077-8079)Cac>Tac	p.H2693Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2648Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2648Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2667Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTAGAAAGCCACATTCGCTC	0.542										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7942-7944)CAC>TAC		zinc finger homeodomain 4							54.0	54.0	54.0					8																	77767234		1953	4142	6095	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767234C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8077C>T	8.37:g.77767234C>T	ENSP00000430497:p.His2693Tyr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.H2693Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.H2648Y	p.H2648Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8329	+			2648			C2H2-type 17.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7942C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718080	0.30503	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.47093	U	0.000253	T	0.74718	0.3753	L	0.61218	1.895	0.80722	D	1	D;D;D	0.69078	0.992;0.99;0.997	D;D;D	0.81914	0.989;0.991;0.995	T	0.76764	-0.2839	10	0.87932	D	0	.	18.8803	0.92353	0.0:1.0:0.0:0.0	.	2648;2648;2693	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2693;2677;2648;2648;2667	ENSP00000430497:H2693Y;ENSP00000399605:H2648Y;ENSP00000050961:H2648Y;ENSP00000430848:H2667Y	ENSP00000050961:H2648Y	H	+	1	0	ZFHX4	77929789	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	7.651000	0.83577	2.695000	0.91970	0.555000	0.69702	CAC		0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		9	53	0	0	0	0.008291	0	9	53		
TRHR	7201	broad.mit.edu	37	8	110131363	110131363	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:110131363C>T	ENST00000518632.1	+	3	1227	c.876C>T	c.(874-876)ctC>ctT	p.L292L	TRHR_ENST00000311762.2_Silent_p.L292L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	292					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ACTCATTTCTCTCCAGTCCTT	0.428																																						uc003ymz.3		NaN																	0				skin(2)|lung(1)	3						c.(874-876)CTC>CTT		thyrotropin-releasing hormone receptor							241.0	239.0	240.0					8																	110131363		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131363C>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.876C>T	8.37:g.110131363C>T							p.L292L	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	892	+			292			Extracellular (Potential).		Q2M339	Silent	SNP	ENST00000518632.1	37	c.876C>T	CCDS6311.1																																																																																				0.428	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1				118	206	0	0	0	0.01441	0	118	206		
PKHD1L1	93035	broad.mit.edu	37	8	110439238	110439238	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:110439238C>T	ENST00000378402.5	+	25	2957	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	951					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGGCCTCCCCGCTGCTGTGT	0.557										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2851-2853)CCC>CCT		fibrocystin L precursor							72.0	75.0	74.0					8																	110439238		2000	4162	6162	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110439238C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2853C>T	8.37:g.110439238C>T		HNSCC(38;0.096)					p.P951P	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		25	2957	+			951			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.2853C>T	CCDS47911.1																																																																																				0.557	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		17	85	0	0	0	0.004007	0	17	85		
NOV	4856	broad.mit.edu	37	8	120428805	120428805	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:120428805C>T	ENST00000259526.3	+	1	260	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GCTTTTGTCTCCGAAAGCAGT	0.542											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yoq.2		NaN																	0				ovary(2)|skin(2)|kidney(1)	5						c.(31-33)CTC>CTT		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						129.0	107.0	114.0					8																	120428805		2203	4300	6503	SO:0001819	synonymous_variant	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120428805C>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.33C>T	8.37:g.120428805C>T			OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1503		p.L11L	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		1	254	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		11						Silent	SNP	ENST00000259526.3	37	c.33C>T	CCDS6328.1																																																																																				0.542	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1		NM_002514		6	13	0	0	0	0.001984	0	6	13		
FER1L6	654463	broad.mit.edu	37	8	125072849	125072849	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:125072849C>G	ENST00000522917.1	+	24	3252	c.3046C>G	c.(3046-3048)Cag>Gag	p.Q1016E	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.Q1016E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1016						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGATCGGCCTCAGGCTCTCAT	0.542																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3046-3048)CAG>GAG		fer-1-like 6							148.0	127.0	134.0					8																	125072849		2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125072849C>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3046C>G	8.37:g.125072849C>G	ENSP00000428280:p.Gln1016Glu					uc003yqy.1_RNA	p.Q1016E	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		24	3252	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1016			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.3046C>G	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486905	0.63962	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.84800	-1.9;-1.9	5.81	5.81	0.92471	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.92446	0.7602	M	0.80982	2.52	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	D	0.90727	0.4639	10	0.34782	T	0.22	-16.1451	19.6677	0.95900	0.0:1.0:0.0:0.0	.	1016	Q2WGJ9	FR1L6_HUMAN	E	1016	ENSP00000428280:Q1016E;ENSP00000381982:Q1016E	ENSP00000381982:Q1016E	Q	+	1	0	FER1L6	125142030	1.000000	0.71417	0.967000	0.41034	0.019000	0.09904	7.733000	0.84916	2.738000	0.93877	0.655000	0.94253	CAG		0.542	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		25	39	0	0	0	0.00333	0	25	39		
DOCK8	81704	broad.mit.edu	37	9	429743	429743	+	Silent	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:429743C>T	ENST00000453981.1	+	36	4627	c.4515C>T	c.(4513-4515)ttC>ttT	p.F1505F	DOCK8_ENST00000469391.1_Silent_p.F1405F|DOCK8_ENST00000432829.2_Silent_p.F1437F|DOCK8_ENST00000382329.1_Silent_p.F972F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1505					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AACAGTGTTTCGACCTATGTC	0.502																																						uc003zgf.2		NaN																	0				ovary(3)|central_nervous_system(3)	6						c.(4513-4515)TTC>TTT		dedicator of cytokinesis 8							136.0	117.0	123.0					9																	429743		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:429743C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4515C>T	9.37:g.429743C>T						DOCK8_uc010mgu.2_Silent_p.F807F|DOCK8_uc010mgv.2_Silent_p.F1405F|DOCK8_uc003zgk.2_Silent_p.F963F	p.F1505F	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	36	4627	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1505			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.4515C>T	CCDS6440.2																																																																																				0.502	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		60	18	0	0	0	0.01441	0	60	18		
RLN1	6013	broad.mit.edu	37	9	5339616	5339616	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:5339616A>T	ENST00000223862.1	-	1	257	c.131T>A	c.(130-132)aTt>aAt	p.I44N	RLN1_ENST00000223858.4_Missense_Mutation_p.I44N|RLN1_ENST00000487557.2_5'Flank	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	44					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GCAAATGGCAATCTGCGCGCG	0.527																																						uc003zjb.1		NaN																	0					0						c.(130-132)ATT>AAT		relaxin 1 preproprotein							33.0	37.0	36.0					9																	5339616		2201	4298	6499	SO:0001583	missense	6013				female pregnancy|signal transduction	extracellular region	hormone activity	g.chr9:5339616A>T		CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.131T>A	9.37:g.5339616A>T	ENSP00000223862:p.Ile44Asn						p.I44N	NM_006911	NP_008842	P04808	REL1_HUMAN		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)	1	258	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	44					Q99936|Q9UQJ1	Missense_Mutation	SNP	ENST00000223862.1	37	c.131T>A	CCDS6462.1	.	.	.	.	.	.	.	.	.	.	a	14.23	2.474542	0.43942	.	.	ENSG00000107018	ENST00000223862;ENST00000223858	D;D	0.84370	-1.84;-1.84	2.84	0.372	0.16173	Insulin-like (4);	0.204732	0.31188	N	0.008081	D	0.86079	0.5847	M	0.84326	2.69	0.09310	N	1	P	0.46395	0.877	P	0.51516	0.672	T	0.77948	-0.2396	10	0.87932	D	0	.	2.1861	0.03887	0.6015:0.0:0.1467:0.2518	.	44	P04808	REL1_HUMAN	N	44	ENSP00000223862:I44N;ENSP00000223858:I44N	ENSP00000223858:I44N	I	-	2	0	RLN1	5329616	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.070000	0.30653	0.075000	0.16796	0.434000	0.28630	ATT		0.527	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1				4	56	0	0	0	0.009096	0	4	56		
MPDZ	8777	broad.mit.edu	37	9	13205963	13205963	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:13205963C>A	ENST00000319217.7	-	11	1673	c.1426G>T	c.(1426-1428)Gtc>Ttc	p.V476F	MPDZ_ENST00000536827.1_Missense_Mutation_p.V476F|MPDZ_ENST00000447879.1_Missense_Mutation_p.V476F|MPDZ_ENST00000546205.1_Missense_Mutation_p.V476F|MPDZ_ENST00000381022.2_Missense_Mutation_p.V476F|MPDZ_ENST00000381015.4_Missense_Mutation_p.V476F|MPDZ_ENST00000541718.1_Missense_Mutation_p.V476F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	476					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.V476I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTTTGTGACGTCTTCCCTT	0.418																																						uc010mia.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(1)	6						c.(1426-1428)GTC>TTC		multiple PDZ domain protein							204.0	190.0	195.0					9																	13205963		1924	4142	6066	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13205963C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1426G>T	9.37:g.13205963C>A	ENSP00000320006:p.Val476Phe					MPDZ_uc010mhy.2_Missense_Mutation_p.V476F|MPDZ_uc010mhz.2_Missense_Mutation_p.V476F|MPDZ_uc011lmn.1_Missense_Mutation_p.V476F|MPDZ_uc003zlb.3_Missense_Mutation_p.V476F	p.V476F	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	10	1483	-			476					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1426G>T		.	.	.	.	.	.	.	.	.	.	C	12.61	1.988368	0.35036	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11712	2.81;2.77;2.77;2.75;2.8;2.81;2.82	6.17	-3.11	0.05299	.	0.783752	0.10770	N	0.636105	T	0.06234	0.0161	N	0.24115	0.695	0.09310	N	1	B;P;P	0.35242	0.359;0.492;0.492	B;B;B	0.38327	0.14;0.253;0.271	T	0.39542	-0.9609	10	0.09590	T	0.72	.	7.6992	0.28613	0.0:0.4327:0.1051:0.4622	.	476;476;476	B7ZMI4;O75970-3;O75970-2	.;.;.	F	476	ENSP00000320006:V476F;ENSP00000439807:V476F;ENSP00000370410:V476F;ENSP00000444151:V476F;ENSP00000415208:V476F;ENSP00000370403:V476F;ENSP00000446358:V476F	ENSP00000320006:V476F	V	-	1	0	MPDZ	13195963	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.095000	0.01350	-1.007000	0.03408	-0.812000	0.03155	GTC		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		4	39	1	0	2.56e-06	0.009096	2.68944e-06	4	39		
ARID3C	138715	broad.mit.edu	37	9	34622477	34622477	+	Silent	SNP	T	T	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:34622477T>C	ENST00000378909.2	-	5	1007	c.915A>G	c.(913-915)gcA>gcG	p.A305A	DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000341694.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	305	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TAGGTCCCAGTGCCAGGCCCA	0.582																																						uc011lon.1		NaN																	0				ovary(1)	1						c.(913-915)GCA>GCG		AT rich interactive domain 3C (BRIGHT- like)							70.0	73.0	72.0					9																	34622477		2203	4300	6503	SO:0001819	synonymous_variant	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622477T>C		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.915A>G	9.37:g.34622477T>C						DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	p.A305A	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	5	915	-	all_epithelial(49;0.102)		305			REKLES.|Pro-rich.			Silent	SNP	ENST00000378909.2	37	c.915A>G	CCDS35006.1																																																																																				0.582	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1		XM_071061		44	34	0	0	0	0.010771	0	44	34		
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						uc003zyr.1		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(274-276)CAC>CCC		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro					LOC158376_uc003zys.1_5'Flank	p.H92P	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1		NM_001039792		7	8	0	0	0	0.013537	0	7	8		
DFNB31	25861	broad.mit.edu	37	9	117186682	117186682	+	Missense_Mutation	SNP	G	G	C	rs373094583		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:117186682G>C	ENST00000362057.3	-	6	1516	c.1348C>G	c.(1348-1350)Cgt>Ggt	p.R450G	DFNB31_ENST00000374059.3_Missense_Mutation_p.R99G|DFNB31_ENST00000265134.6_Missense_Mutation_p.R67G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	450					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCACCACGGTACTCATCC	0.632																																						uc004biz.3		NaN																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1348-1350)CGT>GGT		CASK-interacting protein CIP98 isoform 1							98.0	78.0	85.0					9																	117186682		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117186682G>C	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1348C>G	9.37:g.117186682G>C	ENSP00000354623:p.Arg450Gly					DFNB31_uc004bix.2_Missense_Mutation_p.R99G|DFNB31_uc004biy.3_Missense_Mutation_p.R67G|DFNB31_uc004bja.3_Missense_Mutation_p.R450G	p.R450G	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			6	1997	-			450					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1348C>G	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887229	0.52014	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.08370	3.98;3.96;3.1	5.49	4.48	0.54585	.	0.289221	0.33753	N	0.004595	T	0.10937	0.0267	L	0.47716	1.5	0.80722	D	1	P;B;P	0.41624	0.499;0.292;0.757	B;B;B	0.43478	0.187;0.086;0.421	T	0.00948	-1.1504	10	0.56958	D	0.05	-18.4899	11.3475	0.49569	0.0:0.0:0.6158:0.3842	.	450;450;99	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	G	67;99;450	ENSP00000265134:R67G;ENSP00000363172:R99G;ENSP00000354623:R450G	ENSP00000265134:R67G	R	-	1	0	DFNB31	116226503	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	4.396000	0.59684	2.746000	0.94184	0.561000	0.74099	CGT		0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2		NM_015404		12	56	0	0	0	0.010729	0	12	56		
TSC1	7248	broad.mit.edu	37	9	135777087	135777087	+	Splice_Site	SNP	C	C	A	rs397514822		TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:135777087C>A	ENST00000298552.3	-	19	2613		c.e19-1		TSC1_ENST00000440111.2_Splice_Site|TSC1_ENST00000545250.1_Splice_Site	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCAGCTTCGTCTGCCCAAAGA	0.547			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.e19-1		tuberous sclerosis 1 protein isoform 1							149.0	126.0	134.0					9																	135777087		2203	4300	6503	SO:0001630	splice_region_variant	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135777087C>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2392-1G>T	9.37:g.135777087C>A			OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_uc004ccb.3_Splice_Site_p.T797_splice|TSC1_uc011mcq.1_Splice_Site_p.T747_splice|TSC1_uc011mcr.1_Intron	p.T798_splice	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	19	2626	-								B7Z897|Q5VVN5	Splice_Site	SNP	ENST00000298552.3	37	c.2392_splice	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313972	0.81358	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7908	0.88552	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSC1	134766908	1.000000	0.71417	0.909000	0.35828	0.809000	0.45718	7.503000	0.81632	2.436000	0.82500	0.557000	0.71058	.		0.547	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			Intron	68	42	1	0	7.73544e-29	0.01441	9.21355e-29	68	42		
SNAPC4	6621	broad.mit.edu	37	9	139276292	139276292	+	Silent	SNP	G	G	A	rs201461888	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:139276292G>A	ENST00000298532.2	-	17	2669	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCTGCACTACGGCGGGTCTCT	0.642																																						uc004chh.2		NaN																	0					0						c.(2299-2301)GCC>GCT		small nuclear RNA activating complex,							33.0	37.0	36.0					9																	139276292		2200	4289	6489	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139276292G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2301C>T	9.37:g.139276292G>A							p.A767A	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	17	2310	-		Myeloproliferative disorder(178;0.0511)	767						Silent	SNP	ENST00000298532.2	37	c.2301C>T	CCDS6998.1																																																																																				0.642	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		NM_003086		9	36	0	0	0	0.006214	0	9	36		
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)		urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1663-1665)CAG>TAG		ubiquitously transcribed tetratricopeptide							97.0	65.0	76.0					X																	44922802		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922802C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1663C>T	X.37:g.44922802C>T	ENSP00000367203:p.Gln555*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	p.Q555*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2038	+			555					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1663C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.560972|4.560972	0.86335|0.86335	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|T;T	.|0.23552	.|1.9;1.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.200761|.	0.44285|.	D|.	0.000466|.	.|T	.|0.47040	.|0.1424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57294	.|-0.7836	.|5	0.38643|0.62326	T|D	0.18|0.03	-5.3391|-5.3391	17.0783|17.0783	0.86591|0.86591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	252;555;510;562;476;148|152;197	.|ENSP00000405910:S152L;ENSP00000398929:S197L	ENSP00000334340:Q252X|ENSP00000405910:S152L	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44807746|44807746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.160000|7.160000	0.77495|0.77495	2.039000|2.039000	0.60335|0.60335	0.509000|0.509000	0.49947|0.49947	CAG|TCA		0.567	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		27	12	0	0	0	0.005443	0	27	12		
GPR173	54328	broad.mit.edu	37	X	53106253	53106253	+	Silent	SNP	G	G	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:53106253G>A	ENST00000332582.4	+	2	941	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	150					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CCTGGACCCTGTCTGTGGCCA	0.587																																						uc004dru.2		NaN																	0				skin(1)	1						c.(448-450)CTG>CTA		G protein-coupled receptor 173							56.0	45.0	49.0					X																	53106253		2203	4300	6503	SO:0001819	synonymous_variant	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106253G>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.450G>A	X.37:g.53106253G>A							p.L150L	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	708	+			150			Helical; Name=4; (Potential).		B1B0A5	Silent	SNP	ENST00000332582.4	37	c.450G>A	CCDS14349.1																																																																																				0.587	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2		NM_018969		12	19	0	0	0	0.010729	0	12	19		
MAGEA10	4109	broad.mit.edu	37	X	151303231	151303231	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chrX:151303231C>T	ENST00000370323.4	-	4	1178	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.G288S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	288	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCACTGCCAGGCACCTGC	0.522																																						uc004ffk.2		NaN																	0					0						c.(862-864)GGC>AGC		melanoma antigen family A, 10							93.0	90.0	91.0					X																	151303231		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303231C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.862G>A	X.37:g.151303231C>T	ENSP00000359347:p.Gly288Ser					MAGEA10_uc004ffl.2_Missense_Mutation_p.G288S	p.G288S	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	1270	-	Acute lymphoblastic leukemia(192;6.56e-05)		288			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.862G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716458	0.30413	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.04551	3.6;3.6	2.6	-2.21	0.06973	.	0.922404	0.09085	N	0.850755	T	0.05090	0.0136	L	0.48362	1.52	0.09310	N	1	B	0.29232	0.238	B	0.29353	0.101	T	0.37502	-0.9703	10	0.44086	T	0.13	.	6.959	0.24587	0.0:0.3496:0.0:0.6504	.	288	P43363	MAGAA_HUMAN	S	288	ENSP00000359347:G288S;ENSP00000244096:G288S	ENSP00000244096:G288S	G	-	1	0	MAGEA10	151053887	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	-1.901000	0.01597	-0.776000	0.04578	0.292000	0.19580	GGC		0.522	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3		NM_021048		69	36	0	0	0	0.01441	0	69	36		
OR8B2	26595	broad.mit.edu	37	11	124252689	124252690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr11:124252689_124252690insG	ENST00000375013.2	-	1	568_569	c.550_551insC	c.(550-552)ctcfs	p.L184fs		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	184						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGCTGGAGGAGGGGGAGTATG	0.5																																						uc010sai.1		NaN																	0					0						c.(550-552)CTCfs		olfactory receptor, family 8, subfamily B,																																				SO:0001589	frameshift_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252689_124252690insG	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.551dupC	11.37:g.124252694_124252694dupG	ENSP00000364152:p.Leu184fs						p.L184fs	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	550_551	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	184			Extracellular (Potential).		Q8NGH2	Frame_Shift_Ins	INS	ENST00000375013.2	37	c.550_551insC	CCDS31708.1																																																																																				0.500	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1		NM_001005468		11	57	NaN	NaN	NaN	NaN	NaN	11	57	---	---
SYT1	6857	broad.mit.edu	37	12	79842725	79842726	+	In_Frame_Ins	INS	-	-	ACA			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr12:79842725_79842726insACA	ENST00000261205.4	+	11	1747_1748	c.1090_1091insACA	c.(1090-1092)gac>gACAac	p.364_365insN	SYT1_ENST00000393240.3_In_Frame_Ins_p.364_365insN|SYT1_ENST00000552744.1_In_Frame_Ins_p.364_365insN|SYT1_ENST00000457153.2_In_Frame_Ins_p.361_362insN|RP1-78O14.1_ENST00000550268.1_lincRNA	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	364	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AACTGTTTTGGACTATGACAAG	0.49																																						uc001sys.2		NaN																	0				skin(3)|pancreas(2)|ovary(1)	6						c.(1090-1092)GAC>GACAAC		synaptotagmin I																																				SO:0001652	inframe_insertion	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79842725_79842726insACA		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	Exception_encountered	12.37:g.79842725_79842726insACA	ENSP00000261205:p.Asp364_Tyr365insAsn					SYT1_uc001syt.2_In_Frame_Ins_p.364_365insN|SYT1_uc001syu.2_In_Frame_Ins_p.361_362insN|SYT1_uc001syv.2_In_Frame_Ins_p.364_365insN	p.364_365insN	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			12	1761_1762	+			364_365			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2.		Q6AI31	In_Frame_Ins	INS	ENST00000261205.4	37	c.1090_1091insACA	CCDS9017.1																																																																																				0.490	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1		NM_005639		19	98	NaN	NaN	NaN	NaN	NaN	19	98	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256673	69256674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr14:69256673_69256674insA	ENST00000439696.2	-	2	894_895	c.593_594insT	c.(592-594)ctcfs	p.L198fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.L198fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	198					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTATGCTGGAGGCGGGGACG	0.688											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NaN																	0				ovary(1)	1						c.(592-594)CTCfs		butyrate response factor 1																																				SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256673_69256674insA	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.594dupT	14.37:g.69256674_69256674dupA	ENSP00000388402:p.Leu198fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.L198fs	p.L198fs	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	723_724	-			198					Q13851	Frame_Shift_Ins	INS	ENST00000439696.2	37	c.593_594insT	CCDS9791.1																																																																																				0.688	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				29	29	NaN	NaN	NaN	NaN	NaN	29	29	---	---
PDIA3	2923	broad.mit.edu	37	15	44055308	44055308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr15:44055308delC	ENST00000300289.5	+	5	654	c.506delC	c.(505-507)tccfs	p.S169fs	PDIA3_ENST00000538521.1_Frame_Shift_Del_p.S149fs	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	169					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GAGGCTCACTCCGAGTTCCTA	0.398																																						uc001zsu.2		NaN																	0				ovary(1)|skin(1)	2						c.(505-507)TCCfs		protein disulfide-isomerase A3 precursor							170.0	155.0	160.0					15																	44055308		2198	4298	6496	SO:0001589	frameshift_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44055308delC		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.506delC	15.37:g.44055308delC	ENSP00000300289:p.Ser169fs					PDIA3_uc010bdp.2_Frame_Shift_Del_p.S149fs|PDIA3_uc010ued.1_5'UTR	p.S169fs	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	5	654	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	169					Q13453|Q14255|Q8IYF8|Q9UMU7	Frame_Shift_Del	DEL	ENST00000300289.5	37	c.506delC	CCDS10101.1																																																																																				0.398	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3		NM_005313		30	91	NaN	NaN	NaN	NaN	NaN	30	91	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452553	43452554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr2:43452553_43452554insC	ENST00000282388.3	-	2	682_683	c.389_390insG	c.(388-390)cgcfs	p.R130fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	130					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGTGCTGGCTGCGATCGCCGTT	0.658																																						uc002rsv.3		NaN																	0					0						c.(388-390)CGCfs		zinc finger protein 36, C3H type-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452553_43452554insC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.390dupG	2.37:g.43452554_43452554dupC	ENSP00000282388:p.Arg130fs					LOC100129726_uc010ynx.1_5'Flank	p.R130fs	NM_006887	NP_008818	P47974	TISD_HUMAN			2	680_681	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	130					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.389_390insG	CCDS1811.1																																																																																				0.658	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887		11	16	NaN	NaN	NaN	NaN	NaN	11	16	---	---
OSBPL10	114884	broad.mit.edu	37	3	32022461	32022461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:32022461delG	ENST00000396556.2	-	1	333	c.211delC	c.(211-213)cgcfs	p.R73fs	OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.R73fs|ZNF860_ENST00000360311.4_5'Flank	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	73					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TCCCTCCTGCGGCCGCCTCCC	0.776																																						uc003cev.2		NaN																	0				skin(1)	1						c.(211-213)CGCfs		oxysterol-binding protein-like protein 10							9.0	11.0	11.0					3																	32022461		2176	4268	6444	SO:0001589	frameshift_variant	114884				lipid transport		lipid binding	g.chr3:32022461delG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.211delC	3.37:g.32022461delG	ENSP00000379804:p.Arg73fs					OSBPL10_uc011axf.1_Frame_Shift_Del_p.R71fs|ZNF860_uc011axg.1_5'Flank	p.R71fs	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	2	592	-			71					B4E212|Q9BTU5	Frame_Shift_Del	DEL	ENST00000396556.2	37	c.211delC	CCDS2651.1																																																																																				0.776	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2				8	5	NaN	NaN	NaN	NaN	NaN	8	5	---	---
PLD1	5337	broad.mit.edu	37	3	171404550	171404550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:171404550delG	ENST00000351298.4	-	16	1918	c.1792delC	c.(1792-1794)catfs	p.H598fs	PLD1_ENST00000356327.5_Intron|PLD1_ENST00000340989.4_Frame_Shift_Del_p.H598fs|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	598	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTTAAACCATGGATTAAATTG	0.333																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NaN																	0				ovary(2)|lung(1)	3						c.(1792-1794)CATfs		phospholipase D1 isoform a	Choline(DB00122)						114.0	123.0	120.0					3																	171404550		2203	4300	6503	SO:0001589	frameshift_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171404550delG	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1792delC	3.37:g.171404550delG	ENSP00000342793:p.His598fs					PLD1_uc003fht.2_Intron	p.H598fs	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	1908	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		598			Catalytic.			Frame_Shift_Del	DEL	ENST00000351298.4	37	c.1792delC	CCDS3216.1																																																																																				0.333	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2		NM_002662		56	153	NaN	NaN	NaN	NaN	NaN	56	153	---	---
HES1	3280	broad.mit.edu	37	3	193854476	193854478	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr3:193854476_193854478delTGA	ENST00000232424.3	+	2	415_417	c.179_181delTGA	c.(178-183)ctgatt>ctt	p.I61del		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CTGAAAACACTGATTTTGGATGC	0.389																																						uc003ftq.1		NaN																	0				ovary(1)|lung(1)	2						c.(178-183)CTGATT>CTT		hairy and enhancer of split 1																																				SO:0001651	inframe_deletion	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193854476_193854478delTGA	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.179_181delTGA	3.37:g.193854476_193854478delTGA	ENSP00000232424:p.Ile61del					HES1_uc011bst.1_In_Frame_Del_p.I61del	p.I61del	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	2	415_417	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		61			Helix-loop-helix motif.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	In_Frame_Del	DEL	ENST00000232424.3	37	c.179_181delTGA	CCDS3305.1																																																																																				0.389	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1				23	48	NaN	NaN	NaN	NaN	NaN	23	48	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						uc003uly.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1108-1110)ATTfs		peroxin1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.I370fs	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1204	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466		7	164	NaN	NaN	NaN	NaN	NaN	7	164	---	---
EBF2	64641	broad.mit.edu	37	8	25718601	25718601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:25718601delC	ENST00000520164.1	-	13	1843	c.1306delG	c.(1306-1308)gtcfs	p.V436fs	EBF2_ENST00000535548.1_Frame_Shift_Del_p.V167fs|EBF2_ENST00000408929.3_Frame_Shift_Del_p.V288fs	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	436					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGATGCTGACCCCAAGCTGG	0.493																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1		NaN																	0				ovary(3)|skin(1)	4						c.(1306-1308)GTCfs		early B-cell factor 2							130.0	130.0	130.0					8																	25718601		1991	4173	6164	SO:0001589	frameshift_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25718601delC	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1306delG	8.37:g.25718601delC	ENSP00000430241:p.Val436fs					PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.V436fs	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	13	1323	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	436					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Frame_Shift_Del	DEL	ENST00000520164.1	37	c.1306delG	CCDS43726.1																																																																																				0.493	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2		NM_022659		53	63	NaN	NaN	NaN	NaN	NaN	53	63	---	---
PHF20L1	51105	broad.mit.edu	37	8	133854841	133854842	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr8:133854841_133854842insA	ENST00000395386.2	+	19	2768_2769	c.2469_2470insA	c.(2470-2472)aaafs	p.K824fs	AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.K799fs|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Frame_Shift_Ins_p.K211fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	824							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGGGGTGGAGAAAAAAATAGC	0.381																																						uc003ytt.2		NaN																	0				ovary(2)	2						c.(2467-2472)GAGAAAfs		PHD finger protein 20-like 1 isoform 1																																				SO:0001589	frameshift_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133854841_133854842insA	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2476dupA	8.37:g.133854848_133854848dupA	ENSP00000378784:p.Lys824fs					PHF20L1_uc011lja.1_Frame_Shift_Ins_p.E797fs	p.E823fs	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	2794_2795	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		823_824					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Ins	INS	ENST00000395386.2	37	c.2469_2470insA	CCDS6367.2																																																																																				0.381	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018		12	26	NaN	NaN	NaN	NaN	NaN	12	26	---	---
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-	rs376107801|rs201540433|rs377523807|rs199665292	byFrequency	TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:107361451_107361452delGC	ENST00000374779.2	-	1	336_337	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.51																																						uc011lvp.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(241-246)ACGCTAfs		olfactory receptor, family 13, subfamily C,																																				SO:0001589	frameshift_variant	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361451_107361452delGC		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.243_244delGC	9.37:g.107361451_107361452delGC	ENSP00000363911:p.Leu82fs						p.T81fs	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			1	243_244	-			81_82			Extracellular (Potential).		B2RNE5|B9EGW5|Q6IF53	Frame_Shift_Del	DEL	ENST00000374779.2	37	c.243_244delGC	CCDS35091.1																																																																																				0.510	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2		NM_001004482		7	55	NaN	NaN	NaN	NaN	NaN	7	55	---	---
PTPN3	5774	broad.mit.edu	37	9	112151578	112151590	+	Frame_Shift_Del	DEL	GCCAAAACTGTGC	GCCAAAACTGTGC	-			TCGA-GV-A3QF-01A-31D-A22Z-08	TCGA-GV-A3QF-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1948230a-2e9d-4557-b37e-dfee2537901b	aebf15c2-06c0-45fd-873c-1f784bb15385	g.chr9:112151578_112151590delGCCAAAACTGTGC	ENST00000374541.2	-	22	2280_2292	c.2176_2188delGCACAGTTTTGGC	c.(2176-2190)gcacagttttggcagfs	p.AQFWQ726fs	PTPN3_ENST00000262539.3_Frame_Shift_Del_p.AQFWQ572fs|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000394827.3_Frame_Shift_Del_p.AQFWQ194fs|PTPN3_ENST00000446349.1_Frame_Shift_Del_p.AQFWQ550fs|PTPN3_ENST00000412145.1_Frame_Shift_Del_p.AQFWQ595fs	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	726	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGACAACCTGCCAAAACTGTGCACAGGTATGC	0.465																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(2176-2190)GCACAGTTTTGGCAGfs		protein tyrosine phosphatase, non-receptor type																																				SO:0001589	frameshift_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112151578_112151590delGCCAAAACTGTGC		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2176_2188delGCACAGTTTTGGC	9.37:g.112151578_112151590delGCCAAAACTGTGC	ENSP00000363667:p.Ala726fs					PTPN3_uc004beb.2_Frame_Shift_Del_p.A595fs|PTPN3_uc004bec.2_Frame_Shift_Del_p.A550fs|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Frame_Shift_Del_p.A681fs|PTPN3_uc011lwh.1_Frame_Shift_Del_p.A572fs|PTPN3_uc011lwd.1_Frame_Shift_Del_p.A194fs|PTPN3_uc011lwe.1_Frame_Shift_Del_p.A439fs|PTPN3_uc011lwf.1_Frame_Shift_Del_p.A394fs	p.A726fs	NM_002829	NP_002820	P26045	PTN3_HUMAN			22	2288_2300	-			726_730			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Frame_Shift_Del	DEL	ENST00000374541.2	37	c.2176_2188delGCACAGTTTTGGC	CCDS6776.1																																																																																				0.465	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				16	21	NaN	NaN	NaN	NaN	NaN	16	21	---	---
