#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRIA2	2891	broad.mit.edu	37	4	158233977	158233977	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:158233977C>T	ENST00000264426.9	+	4	895	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GRIA2_ENST00000507898.1_Missense_Mutation_p.R159C|GRIA2_ENST00000296526.7_Missense_Mutation_p.R206C|GRIA2_ENST00000393815.2_Missense_Mutation_p.R159C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R159C	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	206					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAAGGAACGGCGTGTAATTCT	0.378																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(616-618)Cgt>Tgt		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						120.0	123.0	122.0					4																	158233977		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158233977C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.616C>T	4.37:g.158233977C>T	ENSP00000264426:p.Arg206Cys					GRIA2_ENST00000264426.9_Missense_Mutation_p.R206C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R159C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R159C|GRIA2_ENST00000393815.2_Missense_Mutation_p.R159C	p.R206C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	4	941	+	all_hematologic(180;0.24)	Renal(120;0.0458)	206					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.616C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996733	0.74818	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365;ENST00000503437	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.56	4.66	0.58398	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88994	0.6589	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.997;0.989;1.0	P;P;D	0.91635	0.82;0.788;0.999	D	0.89167	0.3534	10	0.59425	D	0.04	.	13.6765	0.62458	0.3368:0.6632:0.0:0.0	.	206;206;159	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	C	159;159;206;206;159;79	ENSP00000426845:R159C;ENSP00000377403:R159C;ENSP00000296526:R206C;ENSP00000264426:R206C;ENSP00000389837:R159C;ENSP00000426784:R79C	ENSP00000264426:R206C	R	+	1	0	GRIA2	158453427	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.348000	0.44045	2.621000	0.88768	0.563000	0.77884	CGT		0.378	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			17	107	0	0	0	1	0	17	107				
VWA3B	200403	broad.mit.edu	37	2	98737844	98737844	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:98737844G>A	ENST00000477737.1	+	5	829	c.625G>A	c.(625-627)Gag>Aag	p.E209K	VWA3B_ENST00000435344.1_Missense_Mutation_p.E209K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E59K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	209										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGTTGGGTTGAGAAACTGAC	0.542																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(625-627)Gag>Aag		von Willebrand factor A domain containing 3B							103.0	109.0	107.0					2																	98737844		2025	4194	6219	SO:0001583	missense	200403							g.chr2:98737844G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.625G>A	2.37:g.98737844G>A	ENSP00000417955:p.Glu209Lys					VWA3B_ENST00000435344.1_Missense_Mutation_p.E209K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E59K	p.E209K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			5	829	+			209					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.625G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	1.824	-0.471451	0.04445	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.13778	3.22;3.22;2.56	5.33	-1.32	0.09201	.	0.831754	0.10950	N	0.616218	T	0.08223	0.0205	L	0.38953	1.18	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.003	B;B;B	0.19666	0.002;0.026;0.009	T	0.40887	-0.9539	10	0.22109	T	0.4	.	1.7491	0.02968	0.4542:0.1375:0.2675:0.1408	.	59;209;209	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	K	209;209;59	ENSP00000401959:E209K;ENSP00000417955:E209K;ENSP00000389463:E59K	ENSP00000411168:E209K	E	+	1	0	VWA3B	98104276	0.870000	0.30015	0.157000	0.22605	0.029000	0.11900	0.136000	0.15974	0.034000	0.15491	-0.150000	0.13652	GAG		0.542	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		30	95	0	0	0	1	0	30	95				
FAM135A	57579	broad.mit.edu	37	6	71195909	71195909	+	Intron	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:71195909G>C	ENST00000418814.2	+	10	1437				FAM135A_ENST00000505868.1_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.R245T|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Missense_Mutation_p.R245T|FAM135A_ENST00000361499.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A											breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CGTCTTCTCAGAAGAAAACAG	0.363																																						ENST00000370479.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(733-735)aGa>aCa		family with sequence similarity 135, member A							93.0	84.0	87.0					6																	71195909		2203	4300	6503	SO:0001627	intron_variant	57579							g.chr6:71195909G>C	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.823+4052G>C	6.37:g.71195909G>C						FAM135A_ENST00000418814.2_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.R245T|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000505868.1_Intron|FAM135A_ENST00000505769.1_Intron	p.R245T			Q9P2D6	F135A_HUMAN			10	1252	+			273					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.734G>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546490	0.86022	.	.	ENSG00000082269	ENST00000370479;ENST00000457062	T;T	0.17213	2.29;2.29	5.73	5.73	0.89815	.	.	.	.	.	T	0.11793	0.0287	N	0.22421	0.69	0.40992	D	0.98486	P;D	0.67145	0.882;0.996	P;P	0.52957	0.447;0.714	T	0.11227	-1.0596	9	0.13470	T	0.59	.	19.8994	0.96980	0.0:0.0:1.0:0.0	.	19;245	Q5JXJ9;Q9P2D6-3	.;.	T	245	ENSP00000359510:R245T;ENSP00000409201:R245T	ENSP00000359510:R245T	R	+	2	0	FAM135A	71252630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.703000	0.92315	0.650000	0.86243	AGA		0.363	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		4	104	0	0	0	1	0	4	104				
ZNF805	390980	broad.mit.edu	37	19	57765984	57765984	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:57765984T>C	ENST00000414468.2	+	4	1797	c.1797T>C	c.(1795-1797)acT>acC	p.T599T	ZNF805_ENST00000535550.1_Silent_p.T466T|ZNF805_ENST00000354309.4_Silent_p.T466T	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ATGTCACCACTGAGGAAAATC	0.413																																						ENST00000535550.1																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(1396-1398)acT>acC		zinc finger protein 805							67.0	61.0	63.0					19																	57765984		692	1591	2283	SO:0001819	synonymous_variant	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57765984T>C	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1797T>C	19.37:g.57765984T>C						ZNF805_ENST00000414468.2_Silent_p.T599T|ZNF805_ENST00000354309.4_Silent_p.T466T	p.T466T	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN			4	1894	+			599					B4DNM5	Silent	SNP	ENST00000414468.2	37	c.1398T>C	CCDS46207.1																																																																																				0.413	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		4	18	0	0	0	1	0	4	18				
MAP3K9	4293	broad.mit.edu	37	14	71202729	71202729	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:71202729T>A	ENST00000554752.2	-	9	1861	c.1862A>T	c.(1861-1863)gAg>gTg	p.E621V	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E621V|MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000553414.1_Intron	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	621					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATTAGCTTTCTCACGTCTCTG	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1861-1863)gAg>gTg		mitogen-activated protein kinase kinase kinase 9							173.0	148.0	157.0					14																	71202729		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71202729T>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1862A>T	14.37:g.71202729T>A	ENSP00000451612:p.Glu621Val					MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E621V|MAP3K9_ENST00000553414.1_Intron|MAP3K9_ENST00000554146.1_Intron	p.E621V			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	9	1861	-			621					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1862A>T		.	.	.	.	.	.	.	.	.	.	T	11.74	1.729589	0.30684	.	.	ENSG00000006432	ENST00000554752;ENST00000005198	T	0.12039	2.72	5.55	5.55	0.83447	.	0.000000	0.49305	D	0.000147	T	0.14399	0.0348	N	0.03608	-0.345	0.80722	D	1	D;P	0.57899	0.981;0.472	D;B	0.67231	0.95;0.142	T	0.39165	-0.9627	10	0.29301	T	0.29	.	12.0108	0.53286	0.0:0.0:0.0:1.0	.	621;621	P80192;P80192-4	M3K9_HUMAN;.	V	621	ENSP00000451612:E621V	ENSP00000005198:E621V	E	-	2	0	MAP3K9	70272482	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.432000	0.52824	2.333000	0.79357	0.533000	0.62120	GAG		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			31	45	0	0	0	1	0	31	45				
DSCAM	1826	broad.mit.edu	37	21	41385186	41385186	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:41385186C>A	ENST00000400454.1	-	33	6291	c.5814G>T	c.(5812-5814)aaG>aaT	p.K1938N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1938				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGTGGGGCGCTTCAGGGTCC	0.607																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5812-5814)aaG>aaT		Down syndrome cell adhesion molecule							40.0	42.0	42.0					21																	41385186		1963	4147	6110	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385186C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5814G>T	21.37:g.41385186C>A	ENSP00000383303:p.Lys1938Asn						p.K1938N	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6291	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1938	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5814G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	15.04	2.715582	0.48622	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66460	-0.07;-0.21	5.29	2.36	0.29203	.	0.054252	0.64402	D	0.000001	T	0.66046	0.2750	N	0.24115	0.695	0.37063	D	0.898171	D	0.71674	0.998	D	0.76071	0.987	T	0.63994	-0.6511	10	0.23302	T	0.38	.	10.5507	0.45087	0.0:0.7788:0.0:0.2212	.	1938	O60469	DSCAM_HUMAN	N	1938;1672	ENSP00000383303:K1938N;ENSP00000385342:K1672N	ENSP00000383303:K1938N	K	-	3	2	DSCAM	40307056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.344000	0.33941	0.558000	0.29135	0.557000	0.71058	AAG		0.607	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		10	54	1	0	0.000673444	1	0.000690401	10	54				
KDM6A	7403	broad.mit.edu	37	X	44879905	44879905	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:44879905G>C	ENST00000377967.4	+	6	535	c.494G>C	c.(493-495)cGa>cCa	p.R165P	KDM6A_ENST00000543216.1_Missense_Mutation_p.R165P|KDM6A_ENST00000536777.1_Missense_Mutation_p.R165P|KDM6A_ENST00000382899.4_Missense_Mutation_p.R165P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	165	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(14)|p.0?(6)|p.?(1)		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						AGCTTTTGTCGAGCCAAGGAA	0.358			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		21	No detectable mRNA/protein(14)|Whole gene deletion(6)|Unknown(1)	p.0(14)|p.0?(6)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(4)|pancreas(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						c.(493-495)cGa>cCa		lysine (K)-specific demethylase 6A							162.0	140.0	148.0					X																	44879905		2203	4300	6503	SO:0001583	missense	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:44879905G>C	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.494G>C	X.37:g.44879905G>C	ENSP00000367203:p.Arg165Pro					KDM6A_ENST00000543216.1_Missense_Mutation_p.R165P|KDM6A_ENST00000536777.1_Missense_Mutation_p.R165P|KDM6A_ENST00000382899.4_Missense_Mutation_p.R165P	p.R165P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			6	535	+			165					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.494G>C	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742513	0.89573	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.19532	2.22;2.22;2.14;2.22	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.65498	2.005	0.58432	D	0.999992	D;D;D;D;P	0.76494	0.999;0.966;0.987;0.999;0.943	D;P;D;D;P	0.87578	0.997;0.907;0.944;0.998;0.81	T	0.46414	-0.9193	10	0.87932	D	0	-9.1436	18.7972	0.91999	0.0:0.0:1.0:0.0	.	165;165;165;165;165	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	P	165	ENSP00000367203:R165P;ENSP00000437405:R165P;ENSP00000372355:R165P;ENSP00000443078:R165P	ENSP00000367203:R165P	R	+	2	0	KDM6A	44764849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.307000	0.96226	2.471000	0.83476	0.600000	0.82982	CGA		0.358	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		27	27	0	0	0	1	0	27	27				
SPSB4	92369	broad.mit.edu	37	3	140785637	140785637	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:140785637G>A	ENST00000310546.2	+	2	1435	c.691G>A	c.(691-693)Gac>Aac	p.D231N		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	231	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CAACGGCCTTGACCGTAAGTT	0.637																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(691-693)Gac>Aac		splA/ryanodine receptor domain and SOCS box containing 4							55.0	52.0	53.0					3																	140785637		2203	4300	6503	SO:0001583	missense	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785637G>A		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.691G>A	3.37:g.140785637G>A	ENSP00000311609:p.Asp231Asn						p.D231N	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1435	+			231			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000310546.2	37	c.691G>A	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677800	0.88445	.	.	ENSG00000175093	ENST00000310546	T	0.60672	0.17	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	M	0.90145	3.09	0.80722	D	1	D	0.55800	0.973	P	0.46659	0.523	T	0.76702	-0.2862	10	0.44086	T	0.13	-44.9381	16.251	0.82489	0.0:0.0:1.0:0.0	.	231	Q96A44	SPSB4_HUMAN	N	231	ENSP00000311609:D231N	ENSP00000311609:D231N	D	+	1	0	SPSB4	142268327	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.869000	0.99810	2.424000	0.82194	0.563000	0.77884	GAC		0.637	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		4	85	0	0	0	1	0	4	85				
SCAMP3	10067	broad.mit.edu	37	1	155227144	155227144	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:155227144G>C	ENST00000302631.3	-	7	818	c.711C>G	c.(709-711)ttC>ttG	p.F237L	SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.F211L|FAM189B_ENST00000361361.2_5'Flank|FAM189B_ENST00000350210.2_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	237					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAAAATGAAGAAGAAAACGA	0.478																																						ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(631-633)ttC>ttG		secretory carrier membrane protein 3							54.0	50.0	51.0					1																	155227144		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155227144G>C	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.711C>G	1.37:g.155227144G>C	ENSP00000307275:p.Phe237Leu					SCAMP3_ENST00000302631.3_Missense_Mutation_p.F237L|SCAMP3_ENST00000472397.1_5'UTR	p.F211L	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	911	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		237					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.633C>G	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.843178	0.91197	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.30981	1.51;1.51	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.92738	3.34	0.80722	D	1	D;P;D	0.76494	0.995;0.823;0.999	D;P;D	0.79108	0.951;0.747;0.992	T	0.69610	-0.5099	10	0.87932	D	0	-8.282	15.084	0.72135	0.0:0.0:1.0:0.0	.	237;211;237	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	L	237;211	ENSP00000307275:F237L;ENSP00000347540:F211L	ENSP00000307275:F237L	F	-	3	2	SCAMP3	153493768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.349000	0.59385	2.404000	0.81709	0.561000	0.74099	TTC		0.478	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		11	43	0	0	0	1	0	11	43				
UBN1	29855	broad.mit.edu	37	16	4908075	4908075	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:4908075T>C	ENST00000396658.4	+	2	1037	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	UBN1_ENST00000545171.1_Missense_Mutation_p.Y112H|UBN1_ENST00000262376.6_Missense_Mutation_p.Y112H|UBN1_ENST00000590769.1_Missense_Mutation_p.Y112H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	112	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAAGAAAAATACGTAAGATT	0.378																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(334-336)Tac>Cac		ubinuclein 1							46.0	48.0	48.0					16																	4908075		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4908075T>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.334T>C	16.37:g.4908075T>C	ENSP00000379894:p.Tyr112His					UBN1_ENST00000590769.1_Missense_Mutation_p.Y112H|UBN1_ENST00000262376.6_Missense_Mutation_p.Y112H|UBN1_ENST00000545171.1_Missense_Mutation_p.Y112H	p.Y112H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			2	1037	+			112			Sufficient for interaction with HIRA.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.334T>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.732669	0.89482	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.74842	-0.29;-0.88;-0.29	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	M	0.79258	2.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87961	0.2730	10	0.87932	D	0	-9.9703	14.8036	0.69935	0.0:0.0:0.0:1.0	.	112;112	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	H	112	ENSP00000262376:Y112H;ENSP00000442379:Y112H;ENSP00000379894:Y112H	ENSP00000262376:Y112H	Y	+	1	0	UBN1	4848076	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.618000	0.83043	1.984000	0.57885	0.460000	0.39030	TAC		0.378	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		7	49	0	0	0	1	0	7	49				
KIAA0430	9665	broad.mit.edu	37	16	15728665	15728665	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:15728665C>T	ENST00000396368.3	-	4	1161	c.955G>A	c.(955-957)Gag>Aag	p.E319K	KIAA0430_ENST00000344181.3_Missense_Mutation_p.E141K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E319K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E319K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	319					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AACGTGGTCTCCTTCCCTGTT	0.433																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(955-957)Gag>Aag		KIAA0430							274.0	254.0	261.0					16																	15728665		1989	4150	6139	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15728665C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.955G>A	16.37:g.15728665C>T	ENSP00000379654:p.Glu319Lys					KIAA0430_ENST00000551742.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E319K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E319K|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E141K	p.E319K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			4	1161	-			318					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.955G>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424639	0.83667	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.62	5.62	0.85841	.	0.144113	0.64402	D	0.000008	T	0.71056	0.3295	L	0.60455	1.87	0.28317	N	0.92241	D;B;B;D	0.76494	0.999;0.404;0.404;0.998	D;B;B;D	0.80764	0.994;0.172;0.172;0.986	T	0.65537	-0.6144	9	0.59425	D	0.04	.	20.0359	0.97557	0.0:1.0:0.0:0.0	.	318;319;318;318	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	K	319;319;318;141;319;319;319	.	ENSP00000315718:E318K	E	-	1	0	KIAA0430	15636166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.499000	0.60380	2.805000	0.96524	0.655000	0.94253	GAG		0.433	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		25	170	0	0	0	1	0	25	170				
DCTN6	10671	broad.mit.edu	37	8	30040633	30040633	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:30040633A>G	ENST00000221114.3	+	7	604	c.517A>G	c.(517-519)Aat>Gat	p.N173D	RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	173					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AATCTTGCCAAATTACCACCA	0.388																																						ENST00000221114.3																			0				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4						c.(517-519)Aat>Gat		dynactin 6							115.0	104.0	108.0					8																	30040633		2203	4300	6503	SO:0001583	missense	10671					centrosome	transferase activity	g.chr8:30040633A>G	D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.517A>G	8.37:g.30040633A>G	ENSP00000221114:p.Asn173Asp						p.N173D	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)	7	604	+			173					B2RAC1	Missense_Mutation	SNP	ENST00000221114.3	37	c.517A>G	CCDS6076.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799456	0.90538	.	.	ENSG00000104671	ENST00000221114	.	.	.	5.72	5.72	0.89469	Trimeric LpxA-like (1);	0.095142	0.64402	D	0.000001	T	0.80747	0.4682	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.84193	0.0446	9	0.72032	D	0.01	-12.0519	13.9724	0.64250	1.0:0.0:0.0:0.0	.	173	O00399	DCTN6_HUMAN	D	173	.	ENSP00000221114:N173D	N	+	1	0	DCTN6	30160175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.174000	0.68829	0.533000	0.62120	AAT		0.388	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375815.2	NM_006571		14	64	0	0	0	1	0	14	64				
ASMT	438	broad.mit.edu	37	X	1742089	1742089	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:1742089C>T	ENST00000381229.4	+	2	163	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	ASMT_ENST00000381233.3_Missense_Mutation_p.P43S|ASMT_ENST00000381241.3_Missense_Mutation_p.P43S			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	43					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGCCCCAGGGCCCCTGGACGT	0.637																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(127-129)Ccc>Tcc		acetylserotonin O-methyltransferase							68.0	67.0	68.0					X																	1742089		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1742089C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.127C>T	X.37:g.1742089C>T	ENSP00000370627:p.Pro43Ser					ASMT_ENST00000381229.4_Missense_Mutation_p.P43S|ASMT_ENST00000381233.3_Missense_Mutation_p.P43S	p.P43S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			2	326	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	43					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.127C>T		.	.	.	.	.	.	.	.	.	.	c	6.355	0.433653	0.12045	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.62788	0.0;0.0;0.0	2.05	-1.23	0.09465	.	0.155417	0.42294	U	0.000728	T	0.54240	0.1846	M	0.80616	2.505	0.09310	N	1	P;P	0.49090	0.919;0.749	B;B	0.42625	0.393;0.393	T	0.50294	-0.8845	10	0.27785	T	0.31	.	3.5666	0.07903	0.0:0.5064:0.2587:0.235	.	43;43	P46597-2;P46597-3	.;.	S	43	ENSP00000370639:P43S;ENSP00000370627:P43S;ENSP00000370631:P43S	ENSP00000370627:P43S	P	+	1	0	ASMT	1702089	0.343000	0.24818	0.040000	0.18447	0.116000	0.19942	0.691000	0.25467	-0.184000	0.10567	0.267000	0.19312	CCC		0.637	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		7	46	0	0	0	1	0	7	46				
NAV3	89795	broad.mit.edu	37	12	78591042	78591042	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:78591042C>T	ENST00000397909.2	+	35	6480	c.6307C>T	c.(6307-6309)Cta>Tta	p.L2103L	NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000228327.6_Silent_p.L2081L|NAV3_ENST00000536525.2_Silent_p.L2081L|NAV3_ENST00000266692.7_Silent_p.L1904L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2103						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAACAATATCTAGCTAACCT	0.348										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6307-6309)Cta>Tta		neuron navigator 3							111.0	99.0	103.0					12																	78591042		1838	4087	5925	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78591042C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6307C>T	12.37:g.78591042C>T		HNSCC(70;0.22)				NAV3_ENST00000228327.6_Silent_p.L2081L|NAV3_ENST00000266692.7_Silent_p.L1904L|NAV3_ENST00000536525.2_Silent_p.L2081L	p.L2103L			Q8IVL0	NAV3_HUMAN			35	6480	+			2103					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.6307C>T		.	.	.	.	.	.	.	.	.	.	C	6.781	0.513117	0.12944	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.59	3.75	0.43078	.	.	.	.	.	T	0.59662	0.2210	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57195	-0.7853	4	.	.	.	-8.9245	9.4513	0.38727	0.0:0.7852:0.0:0.2148	.	.	.	.	F	975	.	.	S	+	2	0	NAV3	77115173	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	2.111000	0.41883	1.491000	0.48482	0.655000	0.94253	TCT		0.348	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	25	0	0	0	1	0	3	25				
LMTK2	22853	broad.mit.edu	37	7	97780751	97780751	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:97780751A>C	ENST00000297293.5	+	4	727	c.434A>C	c.(433-435)aAt>aCt	p.N145T	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAAATTGGAAATGGCTGGTTT	0.378																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(433-435)aAt>aCt		lemur tyrosine kinase 2							123.0	118.0	120.0					7																	97780751		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97780751A>C	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.434A>C	7.37:g.97780751A>C	ENSP00000297293:p.Asn145Thr					LMTK2_ENST00000493372.1_3'UTR	p.N145T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			4	727	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		145			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.434A>C	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353369	0.82132	.	.	ENSG00000164715	ENST00000297293	D	0.82433	-1.61	5.87	2.14	0.27477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089199	0.85682	D	0.000000	D	0.83418	0.5250	L	0.37750	1.13	0.52099	D	0.999948	D	0.56746	0.977	P	0.62560	0.904	T	0.81482	-0.0913	10	0.66056	D	0.02	.	9.5809	0.39488	0.8064:0.0:0.1936:0.0	.	145	Q8IWU2	LMTK2_HUMAN	T	145	ENSP00000297293:N145T	ENSP00000297293:N145T	N	+	2	0	LMTK2	97618687	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.110000	0.50352	0.186000	0.20125	0.533000	0.62120	AAT		0.378	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		35	61	0	0	0	1	0	35	61				
DNAH7	56171	broad.mit.edu	37	2	196915915	196915915	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:196915915G>C	ENST00000312428.6	-	3	237	c.137C>G	c.(136-138)tCt>tGt	p.S46C	DNAH7_ENST00000410072.1_Missense_Mutation_p.S46C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	46	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTTACCATAGACAGCTGTGG	0.333																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(136-138)tCt>tGt		dynein, axonemal, heavy chain 7							179.0	173.0	175.0					2																	196915915		1806	4064	5870	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196915915G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.137C>G	2.37:g.196915915G>C	ENSP00000311273:p.Ser46Cys					DNAH7_ENST00000410072.1_Missense_Mutation_p.S46C	p.S46C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			3	237	-			46			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.137C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755670	0.49362	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.23552	1.9;2.78	4.36	4.36	0.52297	.	0.514985	0.17964	N	0.156061	T	0.17662	0.0424	N	0.19112	0.55	0.09310	N	1	B	0.28512	0.214	B	0.26693	0.072	T	0.14952	-1.0454	10	0.56958	D	0.05	.	12.6915	0.56976	0.0:0.0:1.0:0.0	.	46	Q8WXX0	DYH7_HUMAN	C	46;46;46;21	ENSP00000311273:S46C;ENSP00000386260:S46C	ENSP00000311273:S46C	S	-	2	0	DNAH7	196624160	0.122000	0.22280	0.018000	0.16275	0.073000	0.16967	3.734000	0.55037	2.720000	0.93068	0.561000	0.74099	TCT		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		14	149	0	0	0	1	0	14	149				
KBTBD12	166348	broad.mit.edu	37	3	127703068	127703068	+	Nonsense_Mutation	SNP	C	C	T	rs529486685		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:127703068C>T	ENST00000405109.1	+	6	2286	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	KBTBD12_ENST00000407609.3_Nonsense_Mutation_p.R214*|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Nonsense_Mutation_p.R182*|KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.R607*			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	607										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GATGAATCCCCGAGACCTCAT	0.522																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1819-1821)Cga>Tga		kelch repeat and BTB (POZ) domain containing 12							123.0	112.0	116.0					3																	127703068		2203	4300	6503	SO:0001587	stop_gained	166348							g.chr3:127703068C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1819C>T	3.37:g.127703068C>T	ENSP00000385957:p.Arg607*					KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.R607*|KBTBD12_ENST00000343941.4_Nonsense_Mutation_p.R182*|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Nonsense_Mutation_p.R214*	p.R607*			Q3ZCT8	KBTBC_HUMAN			6	2286	+			607					B5MCC6|Q6ZRK1	Nonsense_Mutation	SNP	ENST00000405109.1	37	c.1819C>T	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	36	5.774908	0.96922	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	.	.	.	6.08	5.14	0.70334	.	0.000000	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	14.5826	0.68302	0.2464:0.7536:0.0:0.0	.	.	.	.	X	607;214;607;182	.	ENSP00000345478:R182X	R	+	1	2	KBTBD12	129185758	0.989000	0.36119	1.000000	0.80357	0.990000	0.78478	2.389000	0.44407	2.894000	0.99253	0.591000	0.81541	CGA		0.522	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		11	101	0	0	0	1	0	11	101				
REG1B	5968	broad.mit.edu	37	2	79312679	79312679	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:79312679C>A	ENST00000305089.3	-	5	452	c.372G>T	c.(370-372)tgG>tgT	p.W124C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATCCAGTGTCCCAGGACTTGT	0.542																																						ENST00000305089.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						c.(370-372)tgG>tgT		regenerating islet-derived 1 beta							94.0	85.0	88.0					2																	79312679		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312679C>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.372G>T	2.37:g.79312679C>A	ENSP00000303206:p.Trp124Cys						p.W124C	NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN			5	452	-			124			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.372G>T	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	16.75	3.210056	0.58343	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.14516	2.5;2.5	3.59	2.71	0.32032	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.211136	0.24204	N	0.040591	T	0.51058	0.1652	H	0.99238	4.48	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.58329	-0.7655	10	0.87932	D	0	.	6.9381	0.24478	0.0:0.8683:0.0:0.1317	.	124	P48304	REG1B_HUMAN	C	75;124	ENSP00000387410:W75C;ENSP00000303206:W124C	ENSP00000303206:W124C	W	-	3	0	REG1B	79166187	0.966000	0.33281	0.741000	0.31004	0.468000	0.32798	2.641000	0.46587	0.837000	0.34925	0.491000	0.48974	TGG		0.542	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		11	76	1	0	0.00136819	1	0.00139263	11	76				
MCAT	27349	broad.mit.edu	37	22	43537207	43537207	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:43537207C>T	ENST00000290429.6	-	2	517	c.472G>A	c.(472-474)Gca>Aca	p.A158T	MCAT_ENST00000464244.1_5'UTR|MCAT_ENST00000327555.5_Missense_Mutation_p.A158T	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	158					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				ACTAGGGCTGCAAACTCTCCC	0.527																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(472-474)Gca>Aca		malonyl CoA:ACP acyltransferase (mitochondrial)							183.0	166.0	172.0					22																	43537207		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43537207C>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.472G>A	22.37:g.43537207C>T	ENSP00000290429:p.Ala158Thr					MCAT_ENST00000327555.5_Missense_Mutation_p.A158T|MCAT_ENST00000464244.1_5'UTR	p.A158T	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			2	517	-		Ovarian(80;0.0694)	158					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.472G>A	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420629	0.62622	.	.	ENSG00000100294	ENST00000327555;ENST00000290429	T;T	0.66995	-0.24;-0.24	4.32	3.28	0.37604	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.057502	0.64402	D	0.000002	T	0.71558	0.3354	L	0.43923	1.385	0.80722	D	1	B;D	0.89917	0.375;1.0	B;D	0.97110	0.145;1.0	T	0.65865	-0.6064	10	0.14656	T	0.56	-19.6728	12.1396	0.53991	0.0:0.8272:0.1727:0.0	.	158;158	B0QY72;Q8IVS2	.;FABD_HUMAN	T	158	ENSP00000331306:A158T;ENSP00000290429:A158T	ENSP00000290429:A158T	A	-	1	0	MCAT	41867151	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.883000	0.63128	0.991000	0.38814	0.655000	0.94253	GCA		0.527	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		18	131	0	0	0	1	0	18	131				
ZNF292	23036	broad.mit.edu	37	6	87966523	87966523	+	Missense_Mutation	SNP	A	A	G	rs200889439		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:87966523A>G	ENST00000369577.3	+	8	3219	c.3176A>G	c.(3175-3177)aAt>aGt	p.N1059S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1054S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1059						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACATCATCCAATCTTTATAAT	0.348																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3175-3177)aAt>aGt		zinc finger protein 292		A	SER/ASN	0,3698		0,0,1849	78.0	78.0	78.0		3176	-7.2	0.0	6		78	2,8162		0,2,4080	yes	missense	ZNF292	NM_015021.1	46	0,2,5929	GG,GA,AA		0.0245,0.0,0.0169	benign	1059/2724	87966523	2,11860	1849	4082	5931	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966523A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3176A>G	6.37:g.87966523A>G	ENSP00000358590:p.Asn1059Ser					ZNF292_ENST00000339907.4_Missense_Mutation_p.N1054S	p.N1059S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3219	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1059					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.3176A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	0.063	-1.219189	0.01542	0.0	2.45E-4	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07021	3.23;3.24	5.55	-7.22	0.01485	.	0.968289	0.08581	N	0.924538	T	0.01029	0.0034	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48468	-0.9033	10	0.02654	T	1	.	17.6267	0.88096	0.82:0.0:0.18:0.0	.	1059	O60281	ZN292_HUMAN	S	1059;1054	ENSP00000358590:N1059S;ENSP00000342847:N1054S	ENSP00000342847:N1054S	N	+	2	0	ZNF292	88023242	0.000000	0.05858	0.002000	0.10522	0.300000	0.27592	-1.982000	0.01489	-1.773000	0.01290	-1.039000	0.02377	AAT		0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		33	50	0	0	0	1	0	33	50				
MCM5	4174	broad.mit.edu	37	22	35809934	35809934	+	Silent	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:35809934C>G	ENST00000216122.4	+	9	1312	c.1158C>G	c.(1156-1158)gcC>gcG	p.A386A	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.A343A	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	386	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTGGGACAGCCAAGTCCCAGC	0.577																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1156-1158)gcC>gcG		minichromosome maintenance complex component 5							107.0	97.0	101.0					22																	35809934		2203	4300	6503	SO:0001819	synonymous_variant	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35809934C>G		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1158C>G	22.37:g.35809934C>G						MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.A343A	p.A386A	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			9	1312	+			386			MCM.		O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	c.1158C>G	CCDS13915.1																																																																																				0.577	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			11	66	0	0	0	1	0	11	66				
ZNFX1	57169	broad.mit.edu	37	20	47864829	47864829	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:47864829C>G	ENST00000396105.1	-	14	4978	c.4732G>C	c.(4732-4734)Gag>Cag	p.E1578Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1578Q|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1578							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTCATCCTCAAAGCCAAAG	0.527																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4732-4734)Gag>Cag		zinc finger, NFX1-type containing 1							73.0	76.0	75.0					20																	47864829		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864829C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4732G>C	20.37:g.47864829C>G	ENSP00000379412:p.Glu1578Gln					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1578Q	p.E1578Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4978	-			1578					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4732G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378467	0.61735	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.47869	0.83;0.83	5.51	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.90019	3.08	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.78270	-0.2269	10	0.54805	T	0.06	-28.793	13.2539	0.60068	0.0:0.9237:0.0:0.0763	.	1578	Q9P2E3	ZNFX1_HUMAN	Q	1578	ENSP00000360817:E1578Q;ENSP00000379412:E1578Q	ENSP00000360817:E1578Q	E	-	1	0	ZNFX1	47298236	1.000000	0.71417	0.980000	0.43619	0.962000	0.63368	7.606000	0.82863	1.577000	0.49804	0.561000	0.74099	GAG		0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		21	135	0	0	0	1	0	21	135				
ADIPOR1	51094	broad.mit.edu	37	1	202911163	202911163	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:202911163A>C	ENST00000340990.5	-	7	1287	c.989T>G	c.(988-990)tTt>tGt	p.F330C	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.F330C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	330					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCATATGTCAAATTTTCCAGG	0.488																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(988-990)tTt>tGt		adiponectin receptor 1							52.0	56.0	55.0					1																	202911163		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202911163A>C		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.989T>G	1.37:g.202911163A>C	ENSP00000341785:p.Phe330Cys					ADIPOR1_ENST00000436244.1_Missense_Mutation_p.F330C	p.F330C	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		7	1287	-			330					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.989T>G	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748918	0.30955	.	.	ENSG00000159346	ENST00000340990;ENST00000436244	T;T	0.36699	1.24;1.24	6.17	6.17	0.99709	.	0.042352	0.85682	D	0.000000	T	0.31606	0.0802	L	0.38649	1.16	0.80722	D	1	B	0.12013	0.005	B	0.15870	0.014	T	0.04229	-1.0967	10	0.32370	T	0.25	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	330	Q96A54	ADR1_HUMAN	C	330	ENSP00000341785:F330C;ENSP00000395469:F330C	ENSP00000341785:F330C	F	-	2	0	ADIPOR1	201177786	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.635000	0.67841	2.371000	0.80710	0.533000	0.62120	TTT		0.488	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		21	59	0	0	0	1	0	21	59				
ZNF407	55628	broad.mit.edu	37	18	72345759	72345759	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:72345759T>C	ENST00000299687.5	+	1	2784	c.2784T>C	c.(2782-2784)ctT>ctC	p.L928L	ZNF407_ENST00000309902.6_Silent_p.L928L|ZNF407_ENST00000582337.1_Silent_p.L928L|ZNF407_ENST00000577538.1_Silent_p.L928L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	928					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGGTAGCCTTGAAGCTGGTA	0.463																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2782-2784)ctT>ctC		zinc finger protein 407							73.0	73.0	73.0					18																	72345759		1914	4125	6039	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345759T>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2784T>C	18.37:g.72345759T>C						ZNF407_ENST00000577538.1_Silent_p.L928L|ZNF407_ENST00000582337.1_Silent_p.L928L|ZNF407_ENST00000309902.6_Silent_p.L928L	p.L928L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2784	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	928					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.2784T>C	CCDS45885.1																																																																																				0.463	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		29	45	0	0	0	1	0	29	45				
CATSPER4	378807	broad.mit.edu	37	1	26524863	26524863	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:26524863C>T	ENST00000456354.2	+	6	832	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	255					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCCTCTTCATCTGCATCA	0.532																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(763-765)ttC>ttT		cation channel, sperm associated 4							156.0	153.0	154.0					1																	26524863		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524863C>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.765C>T	1.37:g.26524863C>T							p.F255F	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	832	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	255					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.765C>T	CCDS30645.1																																																																																				0.532	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		39	196	0	0	0	1	0	39	196				
DCTPP1	79077	broad.mit.edu	37	16	30440485	30440485	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:30440485G>T	ENST00000319285.4	-	2	199	c.105C>A	c.(103-105)cgC>cgA	p.R35R	DCTPP1_ENST00000567983.1_Intron|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000568973.1_5'UTR|ZNF771_ENST00000566625.1_3'UTR	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	35					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						CATGGAGGCGGCGGCTGAAAT	0.592																																						ENST00000319285.4																			0				kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						c.(103-105)cgC>cgA		dCTP pyrophosphatase 1							67.0	60.0	62.0					16																	30440485		2197	4300	6497	SO:0001819	synonymous_variant	79077				nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding	g.chr16:30440485G>T	BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"""XTP3-transactivated protein A"""	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.105C>A	16.37:g.30440485G>T						DCTPP1_ENST00000567983.1_Intron|ZNF771_ENST00000566625.1_3'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000568434.1_5'UTR	p.R35R	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN			2	199	-			35						Silent	SNP	ENST00000319285.4	37	c.105C>A	CCDS10680.1																																																																																				0.592	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096		28	109	1	0	2.44723e-14	1	2.70334e-14	28	109				
WDR13	64743	broad.mit.edu	37	X	48460486	48460486	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:48460486A>T	ENST00000218056.5	+	7	1551	c.1046A>T	c.(1045-1047)cAt>cTt	p.H349L	WDR13_ENST00000376729.5_Missense_Mutation_p.H349L	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	349						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TTGGTGGTGCATGAGGGGAGC	0.637																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(1045-1047)cAt>cTt		WD repeat domain 13							74.0	57.0	63.0					X																	48460486		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48460486A>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1046A>T	X.37:g.48460486A>T	ENSP00000218056:p.His349Leu						p.H349L	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			7	1551	+			349					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.1046A>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	9.822	1.186177	0.21870	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.64260	-0.09;-0.09	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.446089	0.25848	N	0.027905	T	0.37156	0.0993	N	0.08118	0	0.30690	N	0.751397	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	10	0.14656	T	0.56	0.0061	8.7224	0.34449	0.811:0.189:0.0:0.0	.	349	Q9H1Z4	WDR13_HUMAN	L	349	ENSP00000365919:H349L;ENSP00000218056:H349L	ENSP00000218056:H349L	H	+	2	0	WDR13	48345430	0.966000	0.33281	0.685000	0.30070	0.701000	0.40568	2.842000	0.48230	1.818000	0.53035	0.352000	0.21897	CAT		0.637	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			23	14	0	0	0	1	0	23	14				
TRRAP	8295	broad.mit.edu	37	7	98552768	98552768	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:98552768C>T	ENST00000359863.4	+	40	5966	c.5757C>T	c.(5755-5757)atC>atT	p.I1919I	TRRAP_ENST00000355540.3_Silent_p.I1901I|TRRAP_ENST00000446306.3_Silent_p.I1900I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1919					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCGAGCGATCGTCAGACAGG	0.547																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5755-5757)atC>atT		transformation/transcription domain-associated protein							58.0	52.0	54.0					7																	98552768		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98552768C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5757C>T	7.37:g.98552768C>T						TRRAP_ENST00000355540.3_Silent_p.I1901I|TRRAP_ENST00000446306.3_Silent_p.I1900I	p.I1919I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		40	5966	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1919					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.5757C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279916	0.23392	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.56	-4.89	0.03103	.	.	.	.	.	T	0.50188	0.1601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48725	-0.9010	4	.	.	.	.	8.0546	0.30598	0.1049:0.4202:0.0:0.475	.	.	.	.	L	1641	.	.	S	+	2	0	TRRAP	98390704	0.825000	0.29262	0.388000	0.26195	0.943000	0.58893	-0.078000	0.11375	-1.265000	0.02449	-1.084000	0.02203	TCG		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		16	66	0	0	0	1	0	16	66				
NCAM2	4685	broad.mit.edu	37	21	22656567	22656567	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:22656567A>C	ENST00000400546.1	+	3	433	c.184A>C	c.(184-186)Att>Ctt	p.I62L	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.I87L|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	62	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAGAAGATAATTTCAACACA	0.368																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(184-186)Att>Ctt		neural cell adhesion molecule 2							123.0	114.0	117.0					21																	22656567		1848	4095	5943	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22656567A>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.184A>C	21.37:g.22656567A>C	ENSP00000383392:p.Ile62Leu					NCAM2_ENST00000535285.1_Missense_Mutation_p.I87L|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	p.I62L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	3	433	+		Lung NSC(9;0.195)	62			Ig-like C2-type 1.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.184A>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487459	0.26686	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.66460	-0.21;-0.21	5.58	2.9	0.33743	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.339284	0.34725	N	0.003727	T	0.40932	0.1137	N	0.05554	-0.025	0.38246	D	0.941453	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.005	T	0.20638	-1.0269	10	0.20046	T	0.44	-14.6014	8.2669	0.31819	0.771:0.0:0.2289:0.0	.	87;62	B7Z841;O15394	.;NCAM2_HUMAN	L	62;87	ENSP00000383392:I62L;ENSP00000441887:I87L	ENSP00000383392:I62L	I	+	1	0	NCAM2	21578438	0.766000	0.28496	1.000000	0.80357	0.992000	0.81027	1.049000	0.30392	0.957000	0.37930	0.482000	0.46254	ATT		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		10	56	0	0	0	1	0	10	56				
SCN2A	6326	broad.mit.edu	37	2	166201151	166201151	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:166201151C>A	ENST00000375437.2	+	16	2939	c.2649C>A	c.(2647-2649)aaC>aaA	p.N883K	SCN2A_ENST00000375427.2_Missense_Mutation_p.N883K|SCN2A_ENST00000283256.6_Missense_Mutation_p.N883K|SCN2A_ENST00000357398.3_Missense_Mutation_p.N883K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	883					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTAGGAAACCTCACCTTGG	0.428																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2647-2649)aaC>aaA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						126.0	122.0	123.0					2																	166201151		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166201151C>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2649C>A	2.37:g.166201151C>A	ENSP00000364586:p.Asn883Lys					SCN2A_ENST00000375427.2_Missense_Mutation_p.N883K|SCN2A_ENST00000357398.3_Missense_Mutation_p.N883K|SCN2A_ENST00000283256.6_Missense_Mutation_p.N883K	p.N883K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			16	2939	+			883					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2649C>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778002	0.49786	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	5.53	3.67	0.42095	Ion transport (1);	0.075937	0.56097	D	0.000035	D	0.98378	0.9461	H	0.95224	3.64	0.48762	D	0.999708	D;B	0.53745	0.962;0.136	P;B	0.49528	0.614;0.173	D	0.98106	1.0417	10	0.72032	D	0.01	.	5.9905	0.19458	0.1496:0.6569:0.0:0.1935	.	883;883	Q99250-2;Q99250	.;SCN2A_HUMAN	K	883	ENSP00000364586:N883K;ENSP00000349973:N883K;ENSP00000283256:N883K;ENSP00000364576:N883K	ENSP00000283256:N883K	N	+	3	2	SCN2A	165909397	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.893000	0.28336	1.339000	0.45563	0.650000	0.86243	AAC		0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		29	188	1	0	1.39806e-14	1	1.55037e-14	29	188				
ZNF574	64763	broad.mit.edu	37	19	42582794	42582794	+	Silent	SNP	T	T	C	rs577294319		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:42582794T>C	ENST00000600245.1	+	2	691	c.36T>C	c.(34-36)atT>atC	p.I12I	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.I12I|ZNF574_ENST00000222339.7_Silent_p.I102I			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	12					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)				TCCTGTACATTGAGCACCGCT	0.552																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(34-36)atT>atC		zinc finger protein 574							122.0	116.0	118.0					19																	42582794		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42582794T>C	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.36T>C	19.37:g.42582794T>C						ZNF574_ENST00000222339.7_Silent_p.I102I|ZNF574_ENST00000359044.4_Silent_p.I12I|CTB-59C6.3_ENST00000594531.1_RNA	p.I12I			Q6ZN55	ZN574_HUMAN			2	691	+		Prostate(69;0.059)	12					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.36T>C	CCDS12596.1																																																																																				0.552	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		27	228	0	0	0	1	0	27	228				
RNF121	55298	broad.mit.edu	37	11	71705773	71705773	+	Silent	SNP	C	C	T	rs566147682		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:71705773C>T	ENST00000361756.3	+	7	997	c.636C>T	c.(634-636)agC>agT	p.S212S	RNF121_ENST00000545854.1_Silent_p.S131S|RNF121_ENST00000533380.1_Silent_p.S52S|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000530137.1_Silent_p.S180S|RNF121_ENST00000393713.3_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	212						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGTTCTACAGCGAGTCGGGCA	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21075	0.0		0.0	False		,,,				2504	0.0					ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(634-636)agC>agT		ring finger protein 121							225.0	193.0	204.0					11																	71705773		2200	4293	6493	SO:0001819	synonymous_variant	55298					integral to membrane	zinc ion binding	g.chr11:71705773C>T	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.636C>T	11.37:g.71705773C>T						RNF121_ENST00000530137.1_Silent_p.S180S|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000545854.1_Silent_p.S131S|RNF121_ENST00000533380.1_Silent_p.S52S|RNF121_ENST00000393713.3_Intron	p.S212S	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			7	997	+			212					B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	c.636C>T	CCDS8203.1																																																																																				0.488	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		77	81	0	0	0	1	0	77	81				
TSHZ3	57616	broad.mit.edu	37	19	31767794	31767794	+	Missense_Mutation	SNP	A	A	T	rs145002178		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:31767794A>T	ENST00000240587.4	-	2	3232	c.2905T>A	c.(2905-2907)Ttg>Atg	p.L969M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	969					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)					CCAGTGTCCAAGTTTTTGAGG	0.527																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2905-2907)Ttg>Atg		teashirt zinc finger homeobox 3							64.0	60.0	62.0					19																	31767794		2203	4300	6503	SO:0001583	missense	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.chr19:31767794A>T	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.2905T>A	19.37:g.31767794A>T	ENSP00000240587:p.Leu969Met						p.L969M	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3232	-	Esophageal squamous(110;0.226)		969					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2905T>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	11.54	1.667851	0.29604	.	.	ENSG00000121297	ENST00000240587	T	0.13538	2.58	5.84	-4.91	0.03085	.	0.000000	0.64402	D	0.000001	T	0.07234	0.0183	N	0.25201	0.72	0.51482	D	0.999928	P	0.47841	0.901	B	0.40825	0.341	T	0.13926	-1.0491	10	0.15066	T	0.55	-14.1584	14.1312	0.65255	0.5181:0.0:0.4819:0.0	.	969	Q63HK5	TSH3_HUMAN	M	969	ENSP00000240587:L969M	ENSP00000240587:L969M	L	-	1	2	TSHZ3	36459634	0.959000	0.32827	0.936000	0.37596	0.993000	0.82548	0.170000	0.16663	-1.144000	0.02862	-0.285000	0.09966	TTG		0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		14	76	0	0	0	1	0	14	76				
PRPF3	9129	broad.mit.edu	37	1	150298253	150298253	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:150298253G>T	ENST00000324862.6	+	3	355	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.D64Y	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	64	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCGATTTGTGGACAAACTGTT	0.448																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(190-192)Gac>Tac		pre-mRNA processing factor 3							188.0	176.0	180.0					1																	150298253		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150298253G>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.190G>T	1.37:g.150298253G>T	ENSP00000315379:p.Asp64Tyr					PRPF3_ENST00000414970.2_Missense_Mutation_p.D64Y|PRPF3_ENST00000543398.1_5'UTR	p.D64Y	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	3	355	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		64			PWI.		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.190G>T	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879970	0.91740	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.45668	0.89;0.89	5.57	5.57	0.84162	Splicing factor PWI (4);	0.044313	0.85682	D	0.000000	T	0.49338	0.1551	L	0.50333	1.59	0.80722	D	1	D;D;D	0.59767	0.986;0.975;0.975	P;P;P	0.57679	0.825;0.686;0.686	T	0.49634	-0.8919	10	0.87932	D	0	-14.5676	19.9215	0.97087	0.0:0.0:1.0:0.0	.	64;64;64	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	Y	64	ENSP00000315379:D64Y;ENSP00000387844:D64Y	ENSP00000315379:D64Y	D	+	1	0	PRPF3	148564877	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.424000	0.97464	2.785000	0.95823	0.655000	0.94253	GAC		0.448	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		23	143	1	0	2.98393e-07	1	3.22129e-07	23	143				
ZNF341	84905	broad.mit.edu	37	20	32379113	32379113	+	Silent	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:32379113C>A	ENST00000375200.1	+	15	2720	c.2355C>A	c.(2353-2355)ccC>ccA	p.P785P	ZNF341_ENST00000342427.2_Silent_p.P778P|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	785					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						GGCTGGTGCCCGAGGCTGTCC	0.706																																						ENST00000375200.1																			0				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						c.(2353-2355)ccC>ccA		zinc finger protein 341							21.0	25.0	24.0					20																	32379113		2201	4295	6496	SO:0001819	synonymous_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379113C>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.2355C>A	20.37:g.32379113C>A						RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.P778P	p.P785P			Q9BYN7	ZN341_HUMAN			15	2720	+			785					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37	c.2355C>A																																																																																					0.706	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				22	49	1	0	5.26018e-13	1	5.76596e-13	22	49				
PDGFD	80310	broad.mit.edu	37	11	103797699	103797699	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:103797699T>C	ENST00000393158.2	-	6	1107	c.928A>G	c.(928-930)Act>Gct	p.T310A	PDGFD_ENST00000302251.5_Missense_Mutation_p.T304A			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	310					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGTTGACAGTTCCACAGCCA	0.443																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(910-912)Act>Gct		platelet derived growth factor D							120.0	99.0	106.0					11																	103797699		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103797699T>C	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.928A>G	11.37:g.103797699T>C	ENSP00000376865:p.Thr310Ala					PDGFD_ENST00000393158.2_Missense_Mutation_p.T310A	p.T304A	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	6	1361	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	310					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.910A>G	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086693	0.36855	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.26518	1.73;1.73	5.87	3.47	0.39725	Platelet-derived growth factor (PDGF) (3);	0.207617	0.49305	D	0.000148	T	0.20088	0.0483	L	0.50333	1.59	0.42916	D	0.994271	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.05920	-1.0856	10	0.17832	T	0.49	-5.5478	8.1113	0.30916	0.1684:0.0737:0.0:0.7579	.	310;304	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	A	310;304	ENSP00000376865:T310A;ENSP00000302193:T304A	ENSP00000302193:T304A	T	-	1	0	PDGFD	103302909	0.995000	0.38212	0.955000	0.39395	0.956000	0.61745	2.525000	0.45598	1.040000	0.40099	-0.280000	0.10049	ACT		0.443	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		15	20	0	0	0	1	0	15	20				
LEF1	51176	broad.mit.edu	37	4	109088724	109088724	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:109088724C>A	ENST00000265165.1	-	1	854	c.200G>T	c.(199-201)aGc>aTc	p.S67I	LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000379951.2_Missense_Mutation_p.S67I|LEF1_ENST00000510624.1_5'Flank|LEF1_ENST00000512172.1_5'Flank|LEF1_ENST00000438313.2_Missense_Mutation_p.S67I	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	67					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTGTCCGTTGCTGGCCGGGAT	0.597																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.(199-201)aGc>aTc		lymphoid enhancer-binding factor 1							119.0	110.0	113.0					4																	109088724		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088724C>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.200G>T	4.37:g.109088724C>A	ENSP00000265165:p.Ser67Ile					LEF1_ENST00000438313.2_Missense_Mutation_p.S67I|LEF1_ENST00000265165.1_Missense_Mutation_p.S67I|LEF1-AS1_ENST00000436413.1_RNA	p.S67I	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	1388	-			67					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.200G>T	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172742	0.57584	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313	D;D;D	0.99394	-5.82;-5.78;-5.77	4.91	3.13	0.36017	CTNNB1 binding, N-teminal (1);	0.132141	0.64402	D	0.000002	D	0.99061	0.9678	M	0.68317	2.08	0.54753	D	0.999989	D;D;P	0.89917	0.994;1.0;0.931	D;D;P	0.78314	0.983;0.991;0.853	D	0.99236	1.0883	10	0.87932	D	0	-5.8418	9.6821	0.40076	0.0:0.6389:0.2839:0.0772	.	67;67;67	Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;LEF1_HUMAN	I	67	ENSP00000265165:S67I;ENSP00000369284:S67I;ENSP00000406176:S67I	ENSP00000265165:S67I	S	-	2	0	LEF1	109308173	1.000000	0.71417	0.887000	0.34795	0.547000	0.35210	2.139000	0.42149	0.440000	0.26502	0.591000	0.81541	AGC		0.597	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			40	99	1	0	3.54561e-26	1	4.00991e-26	40	99				
PRSS21	10942	broad.mit.edu	37	16	2871026	2871026	+	Silent	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:2871026C>G	ENST00000005995.3	+	5	663	c.621C>G	c.(619-621)ctC>ctG	p.L207L	PRSS21_ENST00000450020.3_Silent_p.L207L|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000455114.1_Silent_p.L205L			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	207	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GCAACCACCTCTTCCTCAAGT	0.537																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(613-615)ctC>ctG		protease, serine, 21 (testisin)							364.0	338.0	347.0					16																	2871026		2198	4300	6498	SO:0001819	synonymous_variant	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2871026C>G	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.621C>G	16.37:g.2871026C>G						PRSS21_ENST00000450020.3_Silent_p.L207L|PRSS21_ENST00000005995.3_Silent_p.L207L|PRSS21_ENST00000575739.1_Intron	p.L205L	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			5	721	+			207			Peptidase S1.		Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	c.615C>G	CCDS10478.1																																																																																				0.537	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		59	463	0	0	0	1	0	59	463				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	284802							g.chr20:29625956G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	90	0	0	0	1	0	5	90				
HYDIN	54768	broad.mit.edu	37	16	70841729	70841729	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:70841729G>A	ENST00000393567.2	-	86	15270	c.15120C>T	c.(15118-15120)atC>atT	p.I5040I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5040					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTTGAAGGGGATGATTATGC	0.547																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15118-15120)atC>atT		HYDIN, axonemal central pair apparatus protein							107.0	111.0	110.0					16																	70841729		2025	4190	6215	SO:0001819	synonymous_variant	54768							g.chr16:70841729G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15120C>T	16.37:g.70841729G>A							p.I5040I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15270	-		Ovarian(137;0.0654)	5040					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.15120C>T	CCDS59269.1																																																																																				0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			23	75	0	0	0	1	0	23	75				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159604002	159604002	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:159604002G>A	ENST00000460298.1	+	4	1006	c.765G>A	c.(763-765)caG>caA	p.Q255Q	IQCJ-SCHIP1_ENST00000476809.1_Silent_p.Q344Q|SCHIP1_ENST00000445224.2_Silent_p.Q52Q|SCHIP1_ENST00000482804.1_Silent_p.Q68Q|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.Q295Q|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.Q63Q|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.Q371Q|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.Q282Q					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CCAGACTGCAGAGTGGGATGA	0.443																																						ENST00000337808.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(883-885)caG>caA									163.0	142.0	149.0					3																	159604002		2203	4300	6503	SO:0001819	synonymous_variant	100505385					cytoplasm	identical protein binding|protein binding	g.chr3:159604002G>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.765G>A	3.37:g.159604002G>A						IQCJ-SCHIP1_ENST00000527095.1_Silent_p.Q63Q|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.Q255Q|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.Q344Q|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.Q282Q|SCHIP1_ENST00000445224.2_Silent_p.Q52Q|SCHIP1_ENST00000482804.1_Silent_p.Q68Q|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.Q371Q	p.Q295Q	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			4	1462	+			295						Silent	SNP	ENST00000460298.1	37	c.885G>A																																																																																					0.443	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		4	75	0	0	0	1	0	4	75				
HECTD3	79654	broad.mit.edu	37	1	45471685	45471685	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:45471685C>T	ENST00000372172.4	-	14	1900	c.1829G>A	c.(1828-1830)cGg>cAg	p.R610Q	HECTD3_ENST00000372168.3_Missense_Mutation_p.R220Q|HECTD3_ENST00000486132.1_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	610	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCTTACCCCGAAGGGCAGC	0.592																																						ENST00000372172.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(1828-1830)cGg>cAg		HECT domain containing E3 ubiquitin protein ligase 3							84.0	85.0	85.0					1																	45471685		1923	4121	6044	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45471685C>T	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1829G>A	1.37:g.45471685C>T	ENSP00000361245:p.Arg610Gln					HECTD3_ENST00000372168.3_Missense_Mutation_p.R220Q	p.R610Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN			14	1900	-	Acute lymphoblastic leukemia(166;0.155)		610			HECT.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.1829G>A	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	.	36	5.709233	0.96821	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.57107	0.42;0.42	5.26	5.26	0.73747	HECT (4);	0.055377	0.64402	D	0.000001	T	0.76644	0.4016	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.992;0.995	T	0.76852	-0.2806	10	0.38643	T	0.18	.	19.0658	0.93110	0.0:1.0:0.0:0.0	.	610;220	Q5T447;Q5T447-2	HECD3_HUMAN;.	Q	610;220	ENSP00000361245:R610Q;ENSP00000361241:R220Q	ENSP00000361241:R220Q	R	-	2	0	HECTD3	45244272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.365000	0.79537	2.728000	0.93425	0.561000	0.74099	CGG		0.592	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		24	113	0	0	0	1	0	24	113				
DPEP3	64180	broad.mit.edu	37	16	68014180	68014180	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:68014180C>T	ENST00000268793.4	-	1	552	c.179G>A	c.(178-180)cGc>cAc	p.R60H	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	35					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGTCTCCGCGCGGGTTACGGG	0.746																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(178-180)cGc>cAc		dipeptidase 3							5.0	8.0	7.0					16																	68014180		2072	4070	6142	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014180C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.179G>A	16.37:g.68014180C>T	ENSP00000268793:p.Arg60His					DPEP3_ENST00000574342.1_5'UTR	p.R60H	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	552	-		Ovarian(137;0.192)	35					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.179G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	8.220	0.802269	0.16397	.	.	ENSG00000141096	ENST00000268793	T	0.18810	2.19	3.41	0.389	0.16269	.	1.133490	0.06522	N	0.739828	T	0.17874	0.0429	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33574	-0.9863	10	0.39692	T	0.17	-0.0861	3.0341	0.06116	0.2127:0.5533:0.0:0.234	.	35	Q9H4B8	DPEP3_HUMAN	H	60	ENSP00000268793:R60H	ENSP00000268793:R60H	R	-	2	0	DPEP3	66571681	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.569000	0.02142	0.128000	0.18479	-0.268000	0.10319	CGC		0.746	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		6	20	0	0	0	1	0	6	20				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	76	0	0	0	1	0	4	76				
RGPD3	653489	broad.mit.edu	37	2	107042520	107042520	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:107042520T>C	ENST00000409886.3	-	19	2717	c.2630A>G	c.(2629-2631)tAt>tGt	p.Y877C	RGPD3_ENST00000304514.7_Missense_Mutation_p.Y877C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	877					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGACTATAATATACTGAAGG	0.333																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2629-2631)tAt>tGt		RANBP2-like and GRIP domain containing 3							18.0	19.0	19.0					2																	107042520		692	1581	2273	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107042520T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2630A>G	2.37:g.107042520T>C	ENSP00000386588:p.Tyr877Cys					RGPD3_ENST00000304514.7_Missense_Mutation_p.Y877C	p.Y877C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			19	2717	-			877					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2630A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.673500	0.29693	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.27104	1.69;1.69	2.5	1.3	0.21679	.	.	.	.	.	T	0.17662	0.0424	L	0.38531	1.155	0.28533	N	0.912515	B	0.12013	0.005	B	0.04013	0.001	T	0.19289	-1.0310	9	0.39692	T	0.17	-15.6271	5.6142	0.17422	0.0:0.1504:0.0:0.8496	.	877	A6NKT7	RGPD3_HUMAN	C	877;635;877	ENSP00000386588:Y877C;ENSP00000303659:Y877C	ENSP00000303659:Y877C	Y	-	2	0	RGPD3	106408952	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.598000	0.54038	0.210000	0.20664	0.156000	0.16432	TAT		0.333	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	133	0	0	0	1	0	4	133				
ADAMTS13	11093	broad.mit.edu	37	9	136324160	136324160	+	Missense_Mutation	SNP	C	C	T	rs387906343		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:136324160C>T	ENST00000371929.3	+	29	4586	c.4142C>T	c.(4141-4143)tCa>tTa	p.S1381L	CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S1294L|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S1325L|ADAMTS13_ENST00000485925.1_3'UTR|CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.S177L|CACFD1_ENST00000291722.7_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1381	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TACTGGGAGTCAGAGAGCAGC	0.627																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4141-4143)tCa>tTa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							40.0	38.0	39.0					9																	136324160		2202	4299	6501	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324160C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4142C>T	9.37:g.136324160C>T	ENSP00000360997:p.Ser1381Leu					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S1294L|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.S177L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S1325L|ADAMTS13_ENST00000371916.1_3'UTR	p.S1381L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4586	+			1381			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.4142C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767487	0.90020	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.87	4.87	0.63330	CUB (1);	.	.	.	.	T	0.74650	0.3744	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.78152	-0.2315	9	0.87932	D	0	.	13.5195	0.61559	0.0:1.0:0.0:0.0	.	1381;1294;1325	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	L	1381;1325;1294;177	ENSP00000360997:S1381L;ENSP00000347927:S1325L;ENSP00000348997:S1294L;ENSP00000360978:S177L	ENSP00000347927:S1325L	S	+	2	0	ADAMTS13	135313981	0.996000	0.38824	0.899000	0.35326	0.981000	0.71138	4.439000	0.59968	2.237000	0.73441	0.650000	0.86243	TCA		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		4	26	0	0	0	1	0	4	26				
MS4A2	2206	broad.mit.edu	37	11	59857236	59857236	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:59857236C>G	ENST00000278888.3	+	2	230	c.128C>G	c.(127-129)tCa>tGa	p.S43*		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	43					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAGTCGGCCTCATCCCCACCA	0.468																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(127-129)tCa>tGa		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						107.0	103.0	105.0					11																	59857236		2201	4295	6496	SO:0001587	stop_gained	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857236C>G	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.128C>G	11.37:g.59857236C>G	ENSP00000278888:p.Ser43*						p.S43*	NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			2	230	+		all_epithelial(135;0.245)	43					Q54A81	Nonsense_Mutation	SNP	ENST00000278888.3	37	c.128C>G	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069292	0.36470	.	.	ENSG00000149534	ENST00000278888	.	.	.	4.16	-1.17	0.09648	.	5.265350	0.00166	N	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2965	1.5322	0.02538	0.1596:0.3426:0.3112:0.1866	.	.	.	.	X	43	.	.	S	+	2	0	MS4A2	59613812	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-0.428000	0.06991	-0.189000	0.10482	0.460000	0.39030	TCA		0.468	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			9	83	0	0	0	1	0	9	83				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			401375							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	81	0	0	0	1	0	4	81				
C1orf177	163747	broad.mit.edu	37	1	55279605	55279605	+	Missense_Mutation	SNP	A	A	C	rs200750891		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:55279605A>C	ENST00000371273.3	+	7	896	c.881A>C	c.(880-882)gAg>gCg	p.E294A	C1orf177_ENST00000358193.3_Missense_Mutation_p.E294A	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	294										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACCCCTACAGAGAGGATTTAC	0.517																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(880-882)gAg>gCg		chromosome 1 open reading frame 177							76.0	81.0	79.0					1																	55279605		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55279605A>C	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.881A>C	1.37:g.55279605A>C	ENSP00000360320:p.Glu294Ala					C1orf177_ENST00000371273.3_Missense_Mutation_p.E294A	p.E294A	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			7	935	+			294					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.881A>C	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786746	0.49997	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.25250	1.81;1.81	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000002	T	0.48132	0.1483	M	0.70275	2.135	0.47037	D	0.999299	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.50013	-0.8877	10	0.72032	D	0.01	-1.0594	10.9789	0.47482	1.0:0.0:0.0:0.0	.	294;294	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	A	294	ENSP00000350924:E294A;ENSP00000360320:E294A	ENSP00000350924:E294A	E	+	2	0	C1orf177	55052193	1.000000	0.71417	0.996000	0.52242	0.430000	0.31655	4.713000	0.61895	2.093000	0.63338	0.459000	0.35465	GAG		0.517	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		13	159	0	0	0	1	0	13	159				
ZNF702P	79986	broad.mit.edu	37	19	53473533	53473533	+	RNA	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53473533A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TATCACATTTATATTTTTTCT	0.348																																						ENST00000600068.1																			0																				47.0	38.0	41.0					19																	53473533		692	1591	2283			79986							g.chr19:53473533A>G																													19.37:g.53473533A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.348	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			16	54	0	0	0	1	0	16	54				
C11orf84	144097	broad.mit.edu	37	11	63594565	63594565	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:63594565C>T	ENST00000294244.4	+	6	1399	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	367										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGTCAGAATCCAGCACCACT	0.612																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(1099-1101)tCc>tTc		chromosome 11 open reading frame 84							64.0	55.0	58.0					11																	63594565		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63594565C>T	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.1100C>T	11.37:g.63594565C>T	ENSP00000294244:p.Ser367Phe						p.S367F	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			6	1399	+			367					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.1100C>T	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827943	0.50845	.	.	ENSG00000168005	ENST00000294244	T	0.53206	0.63	5.66	5.66	0.87406	.	1.296880	0.04910	N	0.453044	T	0.64951	0.2645	L	0.50333	1.59	0.39143	D	0.962077	D	0.58620	0.983	P	0.58331	0.837	T	0.51505	-0.8697	10	0.87932	D	0	-18.843	15.2482	0.73523	0.0:1.0:0.0:0.0	.	367	Q9BUA3	CK084_HUMAN	F	367	ENSP00000294244:S367F	ENSP00000294244:S367F	S	+	2	0	C11orf84	63351141	0.901000	0.30685	0.998000	0.56505	0.204000	0.24138	3.464000	0.53057	2.668000	0.90789	0.655000	0.94253	TCC		0.612	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		5	48	0	0	0	1	0	5	48				
SHISA3	152573	broad.mit.edu	37	4	42403039	42403039	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:42403039C>T	ENST00000319234.4	+	2	506	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	96					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						AGCCTGTCTACGTCCCCTTTC	0.498																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(286-288)taC>taT		shisa family member 3							194.0	193.0	194.0					4																	42403039		2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403039C>T	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.288C>T	4.37:g.42403039C>T							p.Y96Y	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	506	+			96					A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.288C>T	CCDS33979.1																																																																																				0.498	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		25	194	0	0	0	1	0	25	194				
PPP1R9A	55607	broad.mit.edu	37	7	94539571	94539571	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:94539571A>C	ENST00000433881.1	+	2	678	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E49A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E49A|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E49A			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	49	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAGAAGGTGAGGGCTCCCAG	0.458										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(145-147)gAg>gCg		protein phosphatase 1, regulatory subunit 9A							54.0	52.0	53.0					7																	94539571		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539571A>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.146A>C	7.37:g.94539571A>C	ENSP00000398870:p.Glu49Ala	HNSCC(28;0.073)				PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E49A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E49A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E49A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E49A	p.E49A	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	362	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		49			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.146A>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452253	0.26074	.	.	ENSG00000158528	ENST00000413325;ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15256	2.44;2.45;2.45;2.45;2.45;2.45	5.51	5.51	0.81932	.	0.171615	0.51477	D	0.000094	T	0.15392	0.0371	L	0.43152	1.355	0.36798	D	0.885214	P;P;B;P;P	0.43662	0.518;0.814;0.4;0.799;0.666	B;B;B;B;B	0.38985	0.079;0.287;0.173;0.162;0.162	T	0.09164	-1.0687	10	0.51188	T	0.08	.	10.313	0.43721	0.9265:0.0:0.0735:0.0	.	49;49;49;49;49	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	A	49	ENSP00000405514:E49A;ENSP00000344524:E49A;ENSP00000411342:E49A;ENSP00000398870:E49A;ENSP00000289495:E49A;ENSP00000402893:E49A	ENSP00000289495:E49A	E	+	2	0	PPP1R9A	94377507	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	6.043000	0.71004	2.236000	0.73375	0.533000	0.62120	GAG		0.458	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		23	38	0	0	0	1	0	23	38				
LINC00207	388910	broad.mit.edu	37	22	44967348	44967348	+	lincRNA	SNP	C	C	G	rs368037628		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:44967348C>G	ENST00000605505.1	+	0	339					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						GGAGGGACGTCCTGTCAGCAG	0.562																																						ENST00000605505.1																			0				lung(3)	3															70.0	75.0	73.0					22																	44967348		2059	4202	6261			388910							g.chr22:44967348C>G	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44967348C>G								NR_028409.1						0	339	+									RNA	SNP	ENST00000605505.1	37			.	.	.	.	.	.	.	.	.	.	C	5.914	0.352723	0.11182	.	.	ENSG00000187012	ENST00000334566	.	.	.	0.666	0.666	0.17901	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.65773	0.938	T	0.42310	-0.9459	6	0.87932	D	0	.	.	.	.	.	73	Q5JZ73	.	C	73	.	ENSP00000334101:S73C	S	+	2	0	NCRNA00207	43346012	0.021000	0.18746	0.030000	0.17652	0.009000	0.06853	0.810000	0.27183	0.636000	0.30508	0.491000	0.48974	TCC		0.562	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409		4	25	0	0	0	1	0	4	25				
ADCY3	109	broad.mit.edu	37	2	25047389	25047389	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:25047389C>T	ENST00000260600.5	-	16	3445	c.2594G>A	c.(2593-2595)cGg>cAg	p.R865Q	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.R452Q	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	865					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAAAAGTGTCCGTGCCAGTTT	0.527																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2593-2595)cGg>cAg		adenylate cyclase 3							134.0	120.0	125.0					2																	25047389		2203	4300	6503	SO:0001583	missense	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25047389C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2594G>A	2.37:g.25047389C>T	ENSP00000260600:p.Arg865Gln					ADCY3_ENST00000405392.1_Missense_Mutation_p.R452Q	p.R865Q	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			16	3445	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		865					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2594G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	36	5.658492	0.96734	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.71341	-0.56;-0.56	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.84329	0.5448	M	0.75615	2.305	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.999;0.877	D	0.85936	0.1455	10	0.87932	D	0	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	866;865;452	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	Q	865;452;840	ENSP00000260600:R865Q;ENSP00000384484:R452Q	ENSP00000260600:R865Q	R	-	2	0	ADCY3	24900893	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.549000	0.82163	2.669000	0.90835	0.655000	0.94253	CGG		0.527	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			6	66	0	0	0	1	0	6	66				
TTC23L	153657	broad.mit.edu	37	5	34867133	34867133	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:34867133C>T	ENST00000505624.1	+	7	902	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	267										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATAGAGCAGCTGAGGAGGAA	0.547																																						ENST00000505624.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(799-801)Ctg>Ttg		tetratricopeptide repeat domain 23-like							39.0	43.0	42.0					5																	34867133		1988	4154	6142	SO:0001819	synonymous_variant	153657						binding	g.chr5:34867133C>T		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.799C>T	5.37:g.34867133C>T						TTC23L_ENST00000514080.1_3'UTR	p.L267L	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN			7	902	+			267					Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	c.799C>T	CCDS54840.1																																																																																				0.547	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		8	7	0	0	0	1	0	8	7				
SMAD1	4086	broad.mit.edu	37	4	146460970	146460970	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:146460970C>G	ENST00000515385.1	+	3	957	c.415C>G	c.(415-417)Ctg>Gtg	p.L139V	SMAD1_ENST00000302085.4_Missense_Mutation_p.L139V|SMAD1_ENST00000394092.2_Missense_Mutation_p.L139V			Q15797	SMAD1_HUMAN	SMAD family member 1	139					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TCCTCCTGTGCTGGTTCCAAG	0.393																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(415-417)Ctg>Gtg		SMAD family member 1							88.0	84.0	85.0					4																	146460970		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146460970C>G	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.415C>G	4.37:g.146460970C>G	ENSP00000426568:p.Leu139Val					SMAD1_ENST00000302085.4_Missense_Mutation_p.L139V|SMAD1_ENST00000394092.2_Missense_Mutation_p.L139V	p.L139V			Q15797	SMAD1_HUMAN			3	957	+	all_hematologic(180;0.151)		139					A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.415C>G	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129594	0.77549	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.96587	-4.06;-4.06;-4.06	6.17	5.17	0.71159	MAD homology, MH1 (1);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.82823	2.61	0.58432	D	0.999999	P	0.47841	0.901	P	0.58577	0.841	D	0.97868	1.0284	10	0.66056	D	0.02	.	16.4691	0.84095	0.0:0.9281:0.0:0.0719	.	139	Q15797	SMAD1_HUMAN	V	139	ENSP00000305769:L139V;ENSP00000377652:L139V;ENSP00000426568:L139V	ENSP00000305769:L139V	L	+	1	2	SMAD1	146680420	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.145000	0.50623	2.941000	0.99782	0.655000	0.94253	CTG		0.393	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		5	33	0	0	0	1	0	5	33				
UBA5	79876	broad.mit.edu	37	3	132390725	132390725	+	Splice_Site	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:132390725G>A	ENST00000356232.4	+	7	1756	c.684G>A	c.(682-684)gcG>gcA	p.A228A	UBA5_ENST00000494238.2_Splice_Site_p.A172A|UBA5_ENST00000473651.1_Splice_Site_p.A228A|UBA5_ENST00000264991.4_Splice_Site_p.A172A|UBA5_ENST00000493720.2_Splice_Site_p.A228A	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	228					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTGTTTTGCGGTATGCATTA	0.358																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.e7+1		ubiquitin-like modifier activating enzyme 5							145.0	133.0	137.0					3																	132390725		2203	4300	6503	SO:0001630	splice_region_variant	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132390725G>A	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.684+1G>A	3.37:g.132390725G>A						UBA5_ENST00000473651.1_Splice_Site_p.A228_splice|UBA5_ENST00000493720.2_Splice_Site_p.A228_splice|UBA5_ENST00000264991.4_Splice_Site_p.A172_splice|UBA5_ENST00000494238.2_Splice_Site_p.A172_splice	p.A228_splice	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN			7	1756	+			228					A6NJL3|D3DNC8|Q96ST1	Splice_Site	SNP	ENST00000356232.4	37	c.684_splice	CCDS3076.1																																																																																				0.358	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818	Silent	13	98	0	0	0	1	0	13	98				
SKP2	6502	broad.mit.edu	37	5	36181968	36181968	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:36181968C>T	ENST00000274255.6	+	10	1306	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SKP2_ENST00000274254.5_Intron|SKP2_ENST00000508514.1_Silent_p.I163I|SKP2_ENST00000546211.1_Silent_p.I156I	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	370					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTTGGAATCGTGCCAGATG	0.408																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(1108-1110)atC>atT		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							126.0	129.0	128.0					5																	36181968		2203	4300	6503	SO:0001819	synonymous_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36181968C>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.1110C>T	5.37:g.36181968C>T						SKP2_ENST00000546211.1_Silent_p.I156I|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000508514.1_Silent_p.I163I	p.I370I	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1306	+	all_lung(31;5.63e-05)		370					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	c.1110C>T	CCDS3916.1																																																																																				0.408	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		54	73	0	0	0	1	0	54	73				
G6PC2	57818	broad.mit.edu	37	2	169764145	169764145	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:169764145G>A	ENST00000375363.3	+	5	716	c.624G>A	c.(622-624)ctG>ctA	p.L208L	G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	208					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCACATACCTGAAGACCAACC	0.512																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(622-624)ctG>ctA		glucose-6-phosphatase, catalytic, 2							219.0	175.0	190.0					2																	169764145		2203	4300	6503	SO:0001819	synonymous_variant	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764145G>A	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.624G>A	2.37:g.169764145G>A						G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|SPC25_ENST00000472216.2_Intron	p.L208L	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			5	716	+			208					E9PAX2|Q6AHZ0	Silent	SNP	ENST00000375363.3	37	c.624G>A	CCDS2230.1																																																																																				0.512	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		32	143	0	0	0	1	0	32	143				
SBF2	81846	broad.mit.edu	37	11	10064486	10064486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:10064486G>A	ENST00000256190.8	-	3	321	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	62	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AACGTTGGCTGCTTCCTCTCT	0.388																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(184-186)Cag>Tag		SET binding factor 2							111.0	95.0	100.0					11																	10064486		2201	4294	6495	SO:0001587	stop_gained	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064486G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.184C>T	11.37:g.10064486G>A	ENSP00000256190:p.Gln62*					SBF2_ENST00000527019.1_5'UTR	p.Q62*	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	3	321	-			62			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	ENST00000256190.8	37	c.184C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	39	7.483494	0.98312	.	.	ENSG00000133812	ENST00000256190	.	.	.	5.62	5.62	0.85841	.	0.154610	0.43416	D	0.000580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.653	0.95825	0.0:0.0:1.0:0.0	.	.	.	.	X	62	.	.	Q	-	1	0	SBF2	10021062	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.462000	0.80851	2.634000	0.89283	0.591000	0.81541	CAG		0.388	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		12	38	0	0	0	1	0	12	38				
ILF3	3609	broad.mit.edu	37	19	10781785	10781785	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:10781785G>A	ENST00000590261.1	+	2	139	c.139G>A	c.(139-141)Gac>Aac	p.D47N	ILF3_ENST00000589998.1_Missense_Mutation_p.D47N|ILF3_ENST00000420083.1_Missense_Mutation_p.D47N|ILF3_ENST00000250241.8_Missense_Mutation_p.D47N|ILF3_ENST00000588657.1_Missense_Mutation_p.D47N|ILF3_ENST00000592763.1_Missense_Mutation_p.D47N|ILF3_ENST00000449870.1_Missense_Mutation_p.D47N|ILF3_ENST00000318511.3_Missense_Mutation_p.D47N|ILF3_ENST00000407004.3_Missense_Mutation_p.D47N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	47	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D47N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCTGTGTCCGACTGGATAGA	0.552																																						ENST00000449870.1																			1	Substitution - Missense(1)	p.D47N(1)	breast(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(139-141)Gac>Aac		interleukin enhancer binding factor 3, 90kDa							63.0	57.0	59.0					19																	10781785		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781785G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.139G>A	19.37:g.10781785G>A	ENSP00000468156:p.Asp47Asn					ILF3_ENST00000407004.3_Missense_Mutation_p.D47N|ILF3_ENST00000318511.3_Missense_Mutation_p.D47N|ILF3_ENST00000588657.1_Missense_Mutation_p.D47N|ILF3_ENST00000589998.1_Missense_Mutation_p.D47N|ILF3_ENST00000590261.1_Missense_Mutation_p.D47N|ILF3_ENST00000592763.1_Missense_Mutation_p.D47N|ILF3_ENST00000250241.8_Missense_Mutation_p.D47N|ILF3_ENST00000420083.1_Missense_Mutation_p.D47N	p.D47N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		3	456	+			47					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.139G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229908	0.95173	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.35	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.89840	3.065	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	0.87578	0.996;0.99;0.997;0.998;0.996	T	0.70963	-0.4729	10	0.87932	D	0	.	13.243	0.60008	0.0774:0.0:0.9226:0.0	.	47;47;47;47;47	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	N	47	ENSP00000404121:D47N;ENSP00000315205:D47N;ENSP00000405436:D47N;ENSP00000384660:D47N;ENSP00000250241:D47N	ENSP00000250241:D47N	D	+	1	0	ILF3	10642785	1.000000	0.71417	0.917000	0.36280	0.957000	0.61999	9.415000	0.97375	1.633000	0.50488	0.655000	0.94253	GAC		0.552	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			6	52	0	0	0	1	0	6	52				
ACTA1	58	broad.mit.edu	37	1	229568747	229568747	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:229568747C>T	ENST00000366684.3	-	2	218	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ACTA1_ENST00000366683.2_Missense_Mutation_p.R39H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	39					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GTGTCGGGGGCGGCCCACGAT	0.726																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(115-117)cGc>cAc		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						22.0	25.0	24.0					1																	229568747		2199	4295	6494	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568747C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.116G>A	1.37:g.229568747C>T	ENSP00000355645:p.Arg39His					ACTA1_ENST00000366683.2_Missense_Mutation_p.R39H	p.R39H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	218	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	39					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.116G>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359368	0.61403	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.92048	-2.96;-2.96	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	M	0.81497	2.545	0.39938	D	0.974376	D	0.71674	0.998	D	0.81914	0.995	D	0.95840	0.8865	10	0.42905	T	0.14	.	16.1727	0.81828	0.0:1.0:0.0:0.0	.	39	P68133	ACTS_HUMAN	H	39	ENSP00000355645:R39H;ENSP00000355644:R39H	ENSP00000312351:R39H	R	-	2	0	ACTA1	227635370	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.625000	0.83145	2.338000	0.79540	0.655000	0.94253	CGC		0.726	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		6	67	0	0	0	1	0	6	67				
ZNF257	113835	broad.mit.edu	37	19	22271902	22271902	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:22271902G>A	ENST00000594947.1	+	4	1494	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	450				K -> E (in Ref. 1; AAD20957). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCGACATAAGATAATTCATA	0.393																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1348-1350)aaG>aaA		zinc finger protein 257							43.0	48.0	46.0					19																	22271902		2119	4248	6367	SO:0001819	synonymous_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271902G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1350G>A	19.37:g.22271902G>A							p.K450K	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	1494	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	450	K -> E (in Ref. 1; AAD20957).				B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	c.1350G>A	CCDS46030.1																																																																																				0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			4	31	0	0	0	1	0	4	31				
LRRC37A6P	387646	broad.mit.edu	37	10	27539487	27539487	+	lincRNA	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:27539487C>T	ENST00000574842.1	+	0	756				LRRC37A6P_ENST00000284414.4_RNA																							CTCCTGCTCACTAATGGAAAG	0.557																																						ENST00000574842.1																			0																																																			387646							g.chr10:27539487C>T																													10.37:g.27539487C>T						LRRC37A6P_ENST00000284414.4_RNA								0	756	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.557	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			8	63	0	0	0	1	0	8	63				
KRTAP10-5	386680	broad.mit.edu	37	21	45999786	45999786	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:45999786G>A	ENST00000400372.1	-	1	695	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	224	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGGCGGCAGAGGAGGGACACG	0.682																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(670-672)Ctc>Ttc		keratin associated protein 10-5							78.0	88.0	85.0					21																	45999786		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999786G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.670C>T	21.37:g.45999786G>A	ENSP00000383223:p.Leu224Phe					TSPEAR_ENST00000323084.4_Intron	p.L224F	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	695	-			224			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.670C>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	11.79	1.743986	0.30865	.	.	ENSG00000241123	ENST00000400372	T	0.00753	5.74	3.39	-1.62	0.08372	.	.	.	.	.	T	0.02610	0.0079	M	0.80183	2.485	0.24615	N	0.993701	P	0.46064	0.872	P	0.57620	0.824	T	0.21586	-1.0241	9	0.66056	D	0.02	.	6.0662	0.19864	0.0998:0.0:0.4261:0.4741	.	224	P60370	KR105_HUMAN	F	224	ENSP00000383223:L224F	ENSP00000383223:L224F	L	-	1	0	KRTAP10-5	44824214	0.078000	0.21339	0.877000	0.34402	0.172000	0.22775	-0.053000	0.11846	-0.451000	0.07097	0.455000	0.32223	CTC		0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			21	206	0	0	0	1	0	21	206				
CCDC136	64753	broad.mit.edu	37	7	128446756	128446756	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:128446756G>A	ENST00000297788.4	+	9	1630	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	CCDC136_ENST00000487361.1_Silent_p.R368R|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	421						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TACTGTGCCGGCTGCAGAAGC	0.562																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(1261-1263)cgG>cgA		coiled-coil domain containing 136							22.0	23.0	23.0					7																	128446756		1953	4134	6087	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128446756G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1263G>A	7.37:g.128446756G>A						CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Silent_p.R368R|CCDC136_ENST00000464832.1_Intron	p.R421R	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			9	1630	+			421					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.1263G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406358	0.25378	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	T	0.61565	0.2357	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58267	-0.7666	4	.	.	.	-16.4531	10.839	0.46704	0.0893:0.0:0.9107:0.0	.	.	.	.	D	298	.	.	G	+	2	0	CCDC136	128233992	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	3.409000	0.52657	2.648000	0.89879	0.655000	0.94253	GGC		0.562	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		6	41	0	0	0	1	0	6	41				
ALS2	57679	broad.mit.edu	37	2	202589031	202589031	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:202589031C>G	ENST00000264276.6	-	21	3871	c.3499G>C	c.(3499-3501)Gat>Cat	p.D1167H	ALS2_ENST00000457679.2_Missense_Mutation_p.D479H	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1167					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTGATATCATCAAAGACACCA	0.383																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3499-3501)Gat>Cat		amyotrophic lateral sclerosis 2 (juvenile)							116.0	105.0	109.0					2																	202589031		1905	4122	6027	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202589031C>G	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3499G>C	2.37:g.202589031C>G	ENSP00000264276:p.Asp1167His					ALS2_ENST00000457679.2_Missense_Mutation_p.D479H	p.D1167H	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			21	3871	-			1167					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.3499G>C	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893016	0.91889	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.41065	1.01;1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.63620	-0.6596	10	0.72032	D	0.01	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1167;1167	Q6IQ41;Q96Q42	.;ALS2_HUMAN	H	1167;479	ENSP00000264276:D1167H;ENSP00000394823:D479H	ENSP00000264276:D1167H	D	-	1	0	ALS2	202297276	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.805000	0.96524	0.655000	0.94253	GAT		0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	125	0	0	0	1	0	5	125				
CACNA1S	779	broad.mit.edu	37	1	201052428	201052428	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:201052428G>A	ENST00000362061.3	-	10	1481	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R419C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAAAGATGCGGTTCCACTGC	0.542																																						ENST00000362061.3																			1	Substitution - Missense(1)	p.R419C(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1255-1257)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						192.0	158.0	170.0					1																	201052428		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201052428G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1255C>T	1.37:g.201052428G>A	ENSP00000355192:p.Arg419Cys					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419C	p.R419C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			10	1481	-			419					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1255C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790457	0.90367	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96967	-4.19;-4.09	4.59	4.59	0.56863	.	0.105688	0.64402	D	0.000003	D	0.98457	0.9486	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.99808	1.1039	10	0.87932	D	0	.	17.7262	0.88366	0.0:0.0:1.0:0.0	.	419	Q13698	CAC1S_HUMAN	C	419	ENSP00000355192:R419C;ENSP00000356307:R419C	ENSP00000355192:R419C	R	-	1	0	CACNA1S	199319051	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.705000	0.98719	2.232000	0.73038	0.643000	0.83706	CGC		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		29	156	0	0	0	1	0	29	156				
TTC3	7267	broad.mit.edu	37	21	38460600	38460600	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:38460600C>G	ENST00000399017.2	+	4	3039	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.Q98E|TTC3_ENST00000354749.2_Missense_Mutation_p.Q98E|TTC3_ENST00000355666.1_Missense_Mutation_p.Q98E|TTC3_ENST00000540756.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	98					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCAACATCAAAACAGTTC	0.388																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(292-294)Caa>Gaa		tetratricopeptide repeat domain 3							148.0	130.0	136.0					21																	38460600		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38460600C>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.292C>G	21.37:g.38460600C>G	ENSP00000381981:p.Gln98Glu					TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.Q98E|TTC3_ENST00000399010.1_Missense_Mutation_p.Q98E|TTC3_ENST00000355666.1_Missense_Mutation_p.Q98E|TTC3_ENST00000479930.1_3'UTR	p.Q98E	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			4	3039	+		Myeloproliferative disorder(46;0.0412)	98					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.292C>G	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	1.897	-0.454088	0.04540	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.40225	2.87;1.04;2.89;3.21;3.21;3.21	4.82	3.86	0.44501	.	0.277145	0.24625	N	0.036935	T	0.28200	0.0696	L	0.27053	0.805	0.29684	N	0.84143	B	0.18968	0.032	B	0.17722	0.019	T	0.09862	-1.0655	10	0.17369	T	0.5	-5.0885	12.5008	0.55953	0.0:0.7797:0.2203:0.0	.	98	P53804	TTC3_HUMAN	E	98	ENSP00000403943:Q98E;ENSP00000408456:Q98E;ENSP00000391891:Q98E;ENSP00000347889:Q98E;ENSP00000381981:Q98E;ENSP00000346791:Q98E	ENSP00000346791:Q98E	Q	+	1	0	TTC3	37382470	0.888000	0.30383	0.613000	0.29037	0.765000	0.43378	1.391000	0.34475	2.359000	0.80004	0.557000	0.71058	CAA		0.388	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			18	70	0	0	0	1	0	18	70				
KMT2C	58508	broad.mit.edu	37	7	151835921	151835921	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:151835921A>C	ENST00000262189.6	-	58	14821	c.14603T>G	c.(14602-14604)aTt>aGt	p.I4868S	KMT2C_ENST00000355193.2_Missense_Mutation_p.I4925S|KMT2C_ENST00000485655.2_Missense_Mutation_p.I73S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4868	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGATGATAATTTTGTGTCC	0.453																																						ENST00000355193.2																			0											c.(14773-14775)aTt>aGt		lysine (K)-specific methyltransferase 2C							147.0	142.0	144.0					7																	151835921		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151835921A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14603T>G	7.37:g.151835921A>C	ENSP00000262189:p.Ile4868Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.I4868S|KMT2C_ENST00000485655.2_Missense_Mutation_p.I73S	p.I4925S							59	14992	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.14774T>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.72|16.72	3.201629|3.201629	0.58234|0.58234	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000485655;ENST00000424877|ENST00000360104	D;D;D;D|.	0.83591|.	-1.74;-1.74;-1.74;-1.74|.	4.89|4.89	2.52|2.52	0.30459|0.30459	SET domain (3);|.	0.000000|.	0.45361|.	U|.	0.000380|.	D|D	0.88009|0.88009	0.6322|0.6322	H|H	0.99435|0.99435	4.565|4.565	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.956;0.956|.	D;P;P|.	0.87578|.	0.998;0.656;0.656|.	D|D	0.87473|0.87473	0.2415|0.2415	10|5	0.87932|.	D|.	0|.	.|.	8.9886|8.9886	0.36010|0.36010	0.8488:0.0:0.1512:0.0|0.8488:0.0:0.1512:0.0	.|.	4868;3982;4925|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	S|K	4868;4925;73;1481|2424	ENSP00000262189:I4868S;ENSP00000347325:I4925S;ENSP00000439909:I73S;ENSP00000410411:I1481S|.	ENSP00000262189:I4868S|.	I|N	-|-	2|3	0|2	MLL3|MLL3	151466854|151466854	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.998000|0.998000	0.95712|0.95712	9.210000|9.210000	0.95106|0.95106	0.326000|0.326000	0.23384|0.23384	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			19	55	0	0	0	1	0	19	55				
DDX18	8886	broad.mit.edu	37	2	118582169	118582169	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:118582169C>T	ENST00000263239.2	+	8	1219	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	364	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGCTCTTTTCTGCCACCCAA	0.388																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1090-1092)tCt>tTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							103.0	103.0	103.0					2																	118582169		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582169C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1091C>T	2.37:g.118582169C>T	ENSP00000263239:p.Ser364Phe					DDX18_ENST00000474694.1_3'UTR	p.S364F	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			8	1219	+			364			Helicase ATP-binding.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1091C>T	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856434	0.91355	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.12774	2.65;2.65	4.68	4.68	0.58851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79825	-0.1640	10	0.87932	D	0	-12.9883	18.2033	0.89846	0.0:1.0:0.0:0.0	.	364	Q9NVP1	DDX18_HUMAN	F	364;103;47	ENSP00000263239:S364F;ENSP00000415604:S47F	ENSP00000263239:S364F	S	+	2	0	DDX18	118298639	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.055000	0.76656	2.614000	0.88457	0.558000	0.71614	TCT		0.388	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		12	102	0	0	0	1	0	12	102				
TDRD1	56165	broad.mit.edu	37	10	115978258	115978258	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:115978258C>T	ENST00000369280.1	+	18	2869	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	TDRD1_ENST00000422662.1_Silent_p.I407I|TDRD1_ENST00000251864.2_Silent_p.I803I|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369282.1_Silent_p.I803I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	803	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATGGAAACATCGAAGAAGTTA	0.378																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2407-2409)atC>atT		tudor domain containing 1							192.0	174.0	180.0					10																	115978258		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115978258C>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2409C>T	10.37:g.115978258C>T						TDRD1_ENST00000369282.1_Silent_p.I803I|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Silent_p.I803I|TDRD1_ENST00000422662.1_Silent_p.I407I	p.I803I	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	18	2562	+		Colorectal(252;0.172)|Breast(234;0.188)	803			Tudor 3.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.2409C>T																																																																																					0.378	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			15	76	0	0	0	1	0	15	76				
SETDB1	9869	broad.mit.edu	37	1	150933188	150933188	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:150933188G>T	ENST00000271640.5	+	16	2840	c.2650G>T	c.(2650-2652)Gac>Tac	p.D884Y	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.D884Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	884	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGTGGTGTAGACTTGAAGGA	0.473																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2650-2652)Gac>Tac		SET domain, bifurcated 1							137.0	122.0	128.0					1																	150933188		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933188G>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2650G>T	1.37:g.150933188G>T	ENSP00000271640:p.Asp884Tyr					SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.D884Y	p.D884Y	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	2840	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		884			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2650G>T	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082662	0.76528	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.89810	-2.56;-2.57;1.02	5.58	5.58	0.84498	SET domain (3);	0.088968	0.85682	D	0.000000	D	0.89364	0.6694	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.948;0.969	D	0.89687	0.3895	10	0.49607	T	0.09	.	13.8177	0.63301	0.0732:0.0:0.9268:0.0	.	884;884;884	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Y	884	ENSP00000271640:D884Y;ENSP00000357965:D884Y;ENSP00000432348:D884Y	ENSP00000271640:D884Y	D	+	1	0	SETDB1	149199812	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.344000	0.79328	2.630000	0.89119	0.462000	0.41574	GAC		0.473	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			35	86	1	0	9.17885e-22	1	1.02991e-21	35	86				
SLC39A1	27173	broad.mit.edu	37	1	153932693	153932693	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:153932693T>C	ENST00000368623.3	-	3	1615	c.856A>G	c.(856-858)Atc>Gtc	p.I286V	CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000368621.1_Missense_Mutation_p.I286V|SLC39A1_ENST00000537590.1_Missense_Mutation_p.I184V|CRTC2_ENST00000368630.3_5'Flank|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000310483.6_Missense_Mutation_p.I286V|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.I286V			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	286					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		AGAAAGGTGATATAGAGAAAG	0.592																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(856-858)Atc>Gtc		solute carrier family 39 (zinc transporter), member 1							58.0	61.0	60.0					1																	153932693		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153932693T>C	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.856A>G	1.37:g.153932693T>C	ENSP00000357612:p.Ile286Val					SLC39A1_ENST00000356205.4_Missense_Mutation_p.I286V|SLC39A1_ENST00000537590.1_Missense_Mutation_p.I184V|SLC39A1_ENST00000310483.6_Missense_Mutation_p.I286V|SLC39A1_ENST00000368621.1_Missense_Mutation_p.I286V	p.I286V			Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	3	1615	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		286					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.856A>G	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	T	8.609	0.888642	0.17540	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.37	4.22	0.49857	.	0.068737	0.56097	D	0.000030	T	0.07143	0.0181	N	0.02697	-0.525	0.50313	D	0.999862	B;B	0.30114	0.241;0.269	B;B	0.41510	0.066;0.359	T	0.21280	-1.0250	10	0.02654	T	1	-17.9276	10.5471	0.45066	0.0:0.0:0.1625:0.8375	.	184;286	B4DDY7;Q9NY26	.;S39A1_HUMAN	V	286;286;286;286;184;275;286	ENSP00000348535:I286V;ENSP00000357612:I286V;ENSP00000357610:I286V;ENSP00000309710:I286V;ENSP00000443632:I184V;ENSP00000392950:I286V	ENSP00000309710:I286V	I	-	1	0	SLC39A1	152199317	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.006000	0.49529	1.026000	0.39733	0.374000	0.22700	ATC		0.592	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		21	135	0	0	0	1	0	21	135				
TUBB8	347688	broad.mit.edu	37	10	93288	93288	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:93288G>A	ENST00000309812.4	-	4	1106	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	TUBB8_ENST00000413237.3_5'Flank|TUBB8_ENST00000447903.2_Silent_p.N276N	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	348					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGTTTTTACGTTGTTGGGGA	0.493																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(826-828)aaC>aaT		tubulin, beta 8 class VIII							91.0	100.0	97.0					10																	93288		2203	4299	6502	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93288G>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1044C>T	10.37:g.93288G>A						TUBB8_ENST00000309812.4_Silent_p.N348N	p.N276N			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1143	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	348					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.828C>T	CCDS7051.1																																																																																				0.493	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		18	184	0	0	0	1	0	18	184				
GRM7	2917	broad.mit.edu	37	3	7188348	7188348	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:7188348A>T	ENST00000357716.4	+	2	1003	c.729A>T	c.(727-729)aaA>aaT	p.K243N	GRM7_ENST00000402647.2_Missense_Mutation_p.K243N|GRM7_ENST00000389336.4_Missense_Mutation_p.K243N|GRM7_ENST00000403881.1_Missense_Mutation_p.K243N|GRM7_ENST00000486284.1_Missense_Mutation_p.K243N	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	243					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGATTTCCAAAGAGGCAGGTA	0.448																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(727-729)aaA>aaT		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						59.0	63.0	62.0					3																	7188348		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188348A>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.729A>T	3.37:g.7188348A>T	ENSP00000350348:p.Lys243Asn					GRM7_ENST00000403881.1_Missense_Mutation_p.K243N|GRM7_ENST00000357716.4_Missense_Mutation_p.K243N|GRM7_ENST00000402647.2_Missense_Mutation_p.K243N|GRM7_ENST00000389336.4_Missense_Mutation_p.K243N	p.K243N	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	1003	+			243					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.729A>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245637	0.59103	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.206931	0.50627	D	0.000114	T	0.78027	0.4219	L	0.42245	1.32	0.48571	D	0.999671	B;B;B	0.30542	0.241;0.284;0.135	B;B;B	0.36719	0.094;0.231;0.062	T	0.73515	-0.3958	9	.	.	.	.	9.8363	0.40971	0.9233:0.0:0.0767:0.0	.	243;243;243	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	N	35;243;243;243;243;243;243;243	ENSP00000393799:K35N;ENSP00000350348:K243N;ENSP00000417536:K243N;ENSP00000373987:K243N;ENSP00000385664:K243N;ENSP00000384585:K243N	.	K	+	3	2	GRM7	7163348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.927000	0.48900	2.371000	0.80710	0.533000	0.62120	AAA		0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		8	39	0	0	0	1	0	8	39				
MIR520D	574482	broad.mit.edu	37	19	54223413	54223413	+	RNA	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:54223413T>C	ENST00000385002.1	+	0	64				MIR517B_ENST00000385102.1_RNA|MIR520G_ENST00000385064.1_RNA|RNU6-803P_ENST00000516034.1_RNA	NR_030204.1				microRNA 520d																		AAAGTGCTTCTCTTTGGTGGG	0.438																																						ENST00000385002.1																			0																				126.0	118.0	121.0					19																	54223413		1568	3582	5150			574482							g.chr19:54223413T>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207735	ENSG00000207735		"""ncRNAs / Micro RNAs"""	32114	non-coding RNA	RNA, micro				MIRN520D			Standard	NR_030204		Approved	hsa-mir-520d	uc021vah.1				19.37:g.54223413T>C								NR_030204.1						0	64	+									RNA	SNP	ENST00000385002.1	37																																																																																						0.438	MIR520D-201	KNOWN	basic	miRNA	miRNA		NR_030204		25	139	0	0	0	1	0	25	139				
TPR	7175	broad.mit.edu	37	1	186332067	186332067	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:186332067C>G	ENST00000367478.4	-	6	894	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	200					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTTTTCAACTCTGTATTCAGC	0.343			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(598-600)Gag>Cag		translocated promoter region, nuclear basket protein							85.0	76.0	79.0					1																	186332067		1815	4073	5888	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186332067C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.598G>C	1.37:g.186332067C>G	ENSP00000356448:p.Glu200Gln					TPR_ENST00000474852.1_5'UTR	p.E200Q	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	6	894	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	200					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.598G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573496	0.86542	.	.	ENSG00000047410	ENST00000367478	T	0.46063	0.88	5.53	4.61	0.57282	.	0.052616	0.85682	N	0.000000	T	0.63046	0.2478	M	0.69358	2.11	0.52099	D	0.999945	D;D	0.76494	0.991;0.999	P;D	0.80764	0.861;0.994	T	0.65780	-0.6085	10	0.49607	T	0.09	.	16.6838	0.85299	0.0:0.8701:0.1299:0.0	.	200;200	Q15624;P12270	.;TPR_HUMAN	Q	200	ENSP00000356448:E200Q	ENSP00000356448:E200Q	E	-	1	0	TPR	184598690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.633000	0.61318	1.440000	0.47531	0.655000	0.94253	GAG		0.343	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		3	27	0	0	0	1	0	3	27				
MKRN3	7681	broad.mit.edu	37	15	23811187	23811187	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:23811187G>T	ENST00000314520.3	+	1	734	c.258G>T	c.(256-258)ccG>ccT	p.P86P	MKRN3_ENST00000568252.1_Silent_p.P86P|MKRN3_ENST00000564592.1_Silent_p.P86P|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	86					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P86P(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCAGTCCGTTGCCAAGCC	0.627																																						ENST00000314520.3																			2	Substitution - coding silent(2)	p.P86P(2)	ovary(1)|large_intestine(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(256-258)ccG>ccT		makorin ring finger protein 3							39.0	38.0	38.0					15																	23811187		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811187G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.258G>T	15.37:g.23811187G>T						MKRN3_ENST00000564592.1_Silent_p.P86P|MKRN3_ENST00000568252.1_Silent_p.P86P	p.P86P	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	734	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	86						Silent	SNP	ENST00000314520.3	37	c.258G>T	CCDS10013.1																																																																																				0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		13	64	1	0	9.31168e-06	1	9.86553e-06	13	64				
AADACL3	126767	broad.mit.edu	37	1	12785421	12785421	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:12785421C>T	ENST00000359318.5	+	4	716	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	AADACL3_ENST00000332530.3_Silent_p.L101L	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	171							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCAAGCCCTGGATTTACA	0.502																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(301-303)Ctg>Ttg		arylacetamide deacetylase-like 3							166.0	158.0	161.0					1																	12785421		1883	4106	5989	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12785421C>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.511C>T	1.37:g.12785421C>T						AADACL3_ENST00000359318.5_Silent_p.L171L	p.L101L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	527	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	171					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.301C>T	CCDS41253.1																																																																																				0.502	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		37	345	0	0	0	1	0	37	345				
TMF1	7110	broad.mit.edu	37	3	69097184	69097184	+	Silent	SNP	G	G	A	rs199805291		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:69097184G>A	ENST00000398559.2	-	2	888	c.672C>T	c.(670-672)gaC>gaT	p.D224D	CTD-2013N24.2_ENST00000597950.1_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Silent_p.D224D|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	224					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCAAAGCTATGTCCTTTGTTT	0.393																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(670-672)gaC>gaT		TATA element modulatory factor 1							130.0	131.0	131.0					3																	69097184		1939	4151	6090	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097184G>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.672C>T	3.37:g.69097184G>A						CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Silent_p.D224D|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	p.D224D	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	918	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	224					B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.672C>T	CCDS43105.1																																																																																				0.393	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		17	71	0	0	0	1	0	17	71				
ADCY2	108	broad.mit.edu	37	5	7414795	7414795	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:7414795G>A	ENST00000338316.4	+	2	409	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	107					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AAGCTGCTGCGCCTCTTCTCG	0.488																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(319-321)cGc>cAc		adenylate cyclase 2 (brain)							289.0	244.0	259.0					5																	7414795		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7414795G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.320G>A	5.37:g.7414795G>A	ENSP00000342952:p.Arg107His						p.R107H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			2	409	+			107					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.320G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201742	0.79015	.	.	ENSG00000078295	ENST00000338316	T	0.76578	-1.03	5.0	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.62435	0.902	D	0.84295	0.0502	10	0.54805	T	0.06	.	12.4484	0.55664	0.0:0.0:0.8323:0.1677	.	107	Q08462	ADCY2_HUMAN	H	107	ENSP00000342952:R107H	ENSP00000342952:R107H	R	+	2	0	ADCY2	7467795	1.000000	0.71417	0.007000	0.13788	0.977000	0.68977	7.143000	0.77348	1.210000	0.43336	0.563000	0.77884	CGC		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		17	84	0	0	0	1	0	17	84				
SPINK1	6690	broad.mit.edu	37	5	147207631	147207631	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:147207631C>T	ENST00000296695.5	-	3	356	c.148G>A	c.(148-150)Gat>Aat	p.D50N	SPINK1_ENST00000510027.2_Missense_Mutation_p.D50N	NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	50	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of calcium ion import (GO:0090281)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of serine-type endopeptidase activity (GO:1900004)|regulation of acrosome reaction (GO:0060046)|regulation of store-operated calcium entry (GO:2001256)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATTTCCATCAGTCCCACAG	0.323									Hereditary Pancreatitis																													ENST00000510027.2																			0				endometrium(1)|skin(1)	2						c.(148-150)Gat>Aat		serine peptidase inhibitor, Kazal type 1							119.0	112.0	115.0					5																	147207631		2203	4300	6503	SO:0001583	missense	6690	Hereditary Pancreatitis	Familial Cancer Database			extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147207631C>T		CCDS4286.1	5q32	2011-08-31	2005-08-17		ENSG00000164266	ENSG00000164266		"""Serine peptidase inhibitors, Kazal type"""	11244	protein-coding gene	gene with protein product		167790	"""serine protease inhibitor, Kazal type 1"""				Standard	XM_005268501		Approved	Spink3, PCTT, PSTI, TATI	uc003los.2	P00995	OTTHUMG00000129730	ENST00000296695.5:c.148G>A	5.37:g.147207631C>T	ENSP00000296695:p.Asp50Asn					SPINK1_ENST00000296695.5_Missense_Mutation_p.D50N	p.D50N			P00995	ISK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	205	-			50			Kazal-like.			Missense_Mutation	SNP	ENST00000296695.5	37	c.148G>A	CCDS4286.1	.	.	.	.	.	.	.	.	.	.	C	9.535	1.111928	0.20714	.	.	ENSG00000164266	ENST00000296695;ENST00000510027	D;D	0.88431	-2.38;-2.38	4.9	2.14	0.27477	Proteinase inhibitor I1, Kazal (3);	0.000000	0.85682	D	0.000000	D	0.83995	0.5375	.	.	.	0.33959	D	0.645415	B	0.29162	0.235	B	0.35859	0.212	T	0.82386	-0.0483	9	0.33940	T	0.23	-29.5529	8.9319	0.35675	0.0:0.7424:0.0:0.2576	.	50	P00995	ISK1_HUMAN	N	50	ENSP00000296695:D50N;ENSP00000427376:D50N	ENSP00000296695:D50N	D	-	1	0	SPINK1	147187824	1.000000	0.71417	0.991000	0.47740	0.233000	0.25261	1.680000	0.37607	0.773000	0.33404	-0.137000	0.14449	GAT		0.323	SPINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251940.2	NM_003122		6	13	0	0	0	1	0	6	13				
OR7E24	26648	broad.mit.edu	37	19	9362147	9362147	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:9362147C>A	ENST00000456448.1	+	1	542	c.428C>A	c.(427-429)gCc>gAc	p.A143D		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CGGTTTGTGGCCATCTGTCAC	0.458																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(427-429)gCc>gAc		olfactory receptor, family 7, subfamily E, member 24							127.0	135.0	132.0					19																	9362147		2200	4300	6500	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362147C>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.428C>A	19.37:g.9362147C>A	ENSP00000387523:p.Ala143Asp						p.A143D	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	542	+			143					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.428C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	19.33	3.807412	0.70797	.	.	ENSG00000237521	ENST00000456448	T	0.01234	5.13	2.39	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14917	0.0360	H	0.99042	4.41	0.44880	D	0.997895	D	0.76494	0.999	D	0.71184	0.972	T	0.21930	-1.0231	9	0.87932	D	0	.	11.6917	0.51519	0.0:1.0:0.0:0.0	.	143	Q6IFN5	O7E24_HUMAN	D	143	ENSP00000387523:A143D	ENSP00000387523:A143D	A	+	2	0	OR7E24	9223147	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.347000	0.73004	1.353000	0.45828	0.436000	0.28706	GCC		0.458	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			13	44	1	0	0.000219431	1	0.000227411	13	44				
MYH11	4629	broad.mit.edu	37	16	15844038	15844038	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:15844038G>A	ENST00000300036.5	-	16	2124	c.2015C>T	c.(2014-2016)aCg>aTg	p.T672M	MYH11_ENST00000576790.2_Missense_Mutation_p.T672M|MYH11_ENST00000396324.3_Missense_Mutation_p.T679M|MYH11_ENST00000452625.2_Missense_Mutation_p.T679M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	672	Actin-binding. {ECO:0000250}.|Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T672M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAAGTTGGGCGTGGTGTTGCG	0.647			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		1	Substitution - Missense(1)	p.T672M(1)	ovary(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2014-2016)aCg>aTg		myosin, heavy chain 11, smooth muscle							176.0	139.0	152.0					16																	15844038		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15844038G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2015C>T	16.37:g.15844038G>A	ENSP00000300036:p.Thr672Met					MYH11_ENST00000396324.3_Missense_Mutation_p.T679M|MYH11_ENST00000300036.5_Missense_Mutation_p.T672M|MYH11_ENST00000576790.1_Missense_Mutation_p.T672M|MYH11_ENST00000452625.2_Missense_Mutation_p.T679M	p.T672M	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			16	2121	-			672			Actin-binding (By similarity).|Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2015C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368450	0.82463	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.195959	0.45126	D	0.000385	T	0.71247	0.3317	M	0.66378	2.025	0.37733	D	0.92533	P;B;B;B;P;B	0.52316	0.952;0.397;0.397;0.397;0.792;0.397	P;P;P;P;P;P	0.46940	0.532;0.532;0.532;0.532;0.532;0.532	T	0.77983	-0.2382	10	0.87932	D	0	.	9.5298	0.39187	0.0:0.1426:0.6899:0.1675	.	679;672;672;679;672;679	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	M	672;672;679;679;679	ENSP00000300036:T672M;ENSP00000345136:T672M;ENSP00000379616:T679M;ENSP00000407821:T679M	ENSP00000300036:T672M	T	-	2	0	MYH11	15751539	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.864000	0.62990	2.571000	0.86741	0.561000	0.74099	ACG		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		14	124	0	0	0	1	0	14	124				
SNPH	9751	broad.mit.edu	37	20	1286379	1286379	+	Missense_Mutation	SNP	G	G	A	rs146712342	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:1286379G>A	ENST00000381873.3	+	6	1402	c.1166G>A	c.(1165-1167)gGt>gAt	p.G389D	SNPH_ENST00000381867.1_Missense_Mutation_p.G433D	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	389					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGCGGCCTGGTGCCAACCCC	0.657																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1297-1299)gGt>gAt		syntaphilin							24.0	24.0	24.0					20																	1286379		2203	4294	6497	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1286379G>A		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.1166G>A	20.37:g.1286379G>A	ENSP00000371297:p.Gly389Asp					SNPH_ENST00000381873.3_Missense_Mutation_p.G389D	p.G433D			O15079	SNPH_HUMAN			7	1940	+			389					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.1298G>A	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	5.927	0.355121	0.11239	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.62	3.65	0.41850	.	0.539047	0.18286	N	0.145881	T	0.17874	0.0429	N	0.03608	-0.345	0.20489	N	0.999891	P;B	0.35908	0.527;0.241	B;B	0.34180	0.177;0.147	T	0.10497	-1.0627	9	0.30854	T	0.27	-3.2747	14.4084	0.67099	0.0:0.1546:0.8454:0.0	.	433;389	O15079-2;O15079	.;SNPH_HUMAN	D	389;433	.	ENSP00000371291:G433D	G	+	2	0	SNPH	1234379	0.000000	0.05858	0.468000	0.27192	0.994000	0.84299	0.843000	0.27640	1.270000	0.44297	0.561000	0.74099	GGT		0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		3	28	0	0	0	1	0	3	28				
TEP1	7011	broad.mit.edu	37	14	20848553	20848553	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:20848553G>C	ENST00000262715.5	-	34	4884	c.4844C>G	c.(4843-4845)tCa>tGa	p.S1615*	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Nonsense_Mutation_p.S1507*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1615					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTGAGGATTGAAGCCTGCTG	0.597																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(4843-4845)tCa>tGa		telomerase-associated protein 1							73.0	73.0	73.0					14																	20848553		2203	4300	6503	SO:0001587	stop_gained	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20848553G>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4844C>G	14.37:g.20848553G>C	ENSP00000262715:p.Ser1615*					TEP1_ENST00000556935.1_Nonsense_Mutation_p.S1507*|TEP1_ENST00000545983.1_5'UTR	p.S1615*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	34	4884	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1615					A0AUV9	Nonsense_Mutation	SNP	ENST00000262715.5	37	c.4844C>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	44	10.870568	0.99481	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.95	5.01	0.66863	.	0.475155	0.22285	N	0.062074	.	.	.	.	.	.	0.31598	N	0.653071	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-1.5664	16.015	0.80430	0.0:0.1462:0.8538:0.0	.	.	.	.	X	1615;1615;1507	.	ENSP00000262715:S1615X	S	-	2	0	TEP1	19918393	0.320000	0.24616	0.140000	0.22221	0.992000	0.81027	2.306000	0.43673	2.809000	0.96659	0.650000	0.86243	TCA		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		23	84	0	0	0	1	0	23	84				
SH3PXD2A	9644	broad.mit.edu	37	10	105362870	105362870	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:105362870G>T	ENST00000369774.4	-	15	2381	c.2105C>A	c.(2104-2106)tCc>tAc	p.S702Y	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S674Y|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S569Y|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S537Y|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	702	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ggaagaggaggagCAGCAAGT	0.572																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2104-2106)tCc>tAc		SH3 and PX domains 2A							90.0	103.0	99.0					10																	105362870		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362870G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2105C>A	10.37:g.105362870G>T	ENSP00000358789:p.Ser702Tyr					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S569Y|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S537Y|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S674Y|SH3PXD2A_ENST00000315994.6_5'UTR	p.S702Y			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2381	-		Colorectal(252;0.0815)|Breast(234;0.131)	702			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2105C>A		.	.	.	.	.	.	.	.	.	.	G	4.656	0.121918	0.08931	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.60040	0.3;0.29;0.43;0.22	5.13	5.13	0.70059	.	0.338637	0.21567	N	0.072462	T	0.56949	0.2020	N	0.22421	0.69	0.25642	N	0.986194	D;D;P;P	0.61697	0.99;0.99;0.94;0.899	D;D;B;P	0.69142	0.962;0.962;0.276;0.466	T	0.48736	-0.9009	10	0.02654	T	1	-24.2133	14.0685	0.64847	0.0:0.0:1.0:0.0	.	702;551;547;674	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	Y	702;674;509;617;569;537	ENSP00000358789:S702Y;ENSP00000348215:S674Y;ENSP00000443663:S569Y;ENSP00000441514:S537Y	ENSP00000318135:S509Y	S	-	2	0	SH3PXD2A	105352860	0.992000	0.36948	1.000000	0.80357	0.953000	0.61014	1.382000	0.34374	2.398000	0.81561	0.561000	0.74099	TCC		0.572	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		31	169	1	0	3.90053e-15	1	4.34238e-15	31	169				
WDFY3	23001	broad.mit.edu	37	4	85664939	85664939	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:85664939C>G	ENST00000295888.4	-	37	6394	c.5987G>C	c.(5986-5988)aGg>aCg	p.R1996T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1996T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1996					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTGTAGACCTTTCAGGGGA	0.323																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5986-5988)aGg>aCg		WD repeat and FYVE domain containing 3							75.0	75.0	75.0					4																	85664939		2203	4299	6502	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85664939C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5987G>C	4.37:g.85664939C>G	ENSP00000295888:p.Arg1996Thr					WDFY3_ENST00000295888.4_Missense_Mutation_p.R1996T	p.R1996T			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	37	6394	-		Hepatocellular(203;0.114)	1996					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5987G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176671	0.38413	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63417	-0.04;-0.03	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.34521	1.04	0.80722	D	1	B	0.21381	0.055	B	0.17098	0.017	T	0.48210	-0.9055	10	0.10377	T	0.69	.	19.4376	0.94804	0.0:1.0:0.0:0.0	.	1996	Q8IZQ1	WDFY3_HUMAN	T	1996	ENSP00000318466:R1996T;ENSP00000295888:R1996T	ENSP00000295888:R1996T	R	-	2	0	WDFY3	85883963	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.194000	0.77789	2.660000	0.90430	0.467000	0.42956	AGG		0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		23	31	0	0	0	1	0	23	31				
GCA	25801	broad.mit.edu	37	2	163213292	163213292	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:163213292T>C	ENST00000437150.2	+	5	492	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	GCA_ENST00000233612.4_Missense_Mutation_p.F92L|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	111	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AAAAATGGGATTTAATGCATT	0.353																																						ENST00000437150.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						c.(331-333)Ttt>Ctt		grancalcin, EF-hand calcium binding protein							72.0	72.0	72.0					2																	163213292		2203	4300	6503	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163213292T>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.331T>C	2.37:g.163213292T>C	ENSP00000394842:p.Phe111Leu					GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.F92L	p.F111L	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN			5	492	+			111			EF-hand 2.		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.331T>C	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442338	0.83993	.	.	ENSG00000115271	ENST00000446271;ENST00000437150;ENST00000453113;ENST00000233612	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.91	5.91	0.95273	EF-hand-like domain (1);	0.110059	0.85682	N	0.000000	T	0.78181	0.4243	L	0.49699	1.58	0.80722	D	1	D	0.52996	0.957	P	0.45794	0.493	T	0.75482	-0.3302	10	0.19147	T	0.46	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	111	P28676	GRAN_HUMAN	L	137;111;92;92	ENSP00000393218:F137L;ENSP00000394842:F111L;ENSP00000403805:F92L;ENSP00000233612:F92L	ENSP00000233612:F92L	F	+	1	0	GCA	162921538	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	7.543000	0.82106	2.254000	0.74563	0.533000	0.62120	TTT		0.353	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		4	43	0	0	0	1	0	4	43				
ZNF566	84924	broad.mit.edu	37	19	36939892	36939892	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:36939892T>G	ENST00000434377.2	-	5	1325	c.1244A>C	c.(1243-1245)aAt>aCt	p.N415T	ZNF566_ENST00000493391.1_Missense_Mutation_p.N311T|ZNF566_ENST00000454319.1_Missense_Mutation_p.N416T|ZNF566_ENST00000392170.2_Missense_Mutation_p.N416T|ZNF566_ENST00000424129.2_Missense_Mutation_p.N415T	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCAGTACAAATTTTGATGCTG	0.308																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1246-1248)aAt>aCt		zinc finger protein 566							52.0	51.0	51.0					19																	36939892		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36939892T>G	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.1244A>C	19.37:g.36939892T>G	ENSP00000415520:p.Asn415Thr					ZNF566_ENST00000392170.2_Missense_Mutation_p.N416T|ZNF566_ENST00000424129.2_Missense_Mutation_p.N415T|ZNF566_ENST00000434377.2_Missense_Mutation_p.N415T|ZNF566_ENST00000493391.1_Missense_Mutation_p.N311T	p.N416T	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			5	1381	-	Esophageal squamous(110;0.162)		415					B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.1247A>C	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570749	0.28003	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	3.37	3.37	0.38596	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000333	T	0.03263	0.0095	N	0.11673	0.155	0.31754	N	0.634222	B;B	0.23540	0.087;0.04	B;B	0.23275	0.045;0.028	T	0.09292	-1.0681	10	0.66056	D	0.02	.	11.7702	0.51953	0.0:0.0:0.0:1.0	.	416;415	B7ZL95;Q969W8	.;ZN566_HUMAN	T	416;415;416;415	ENSP00000394207:N416T;ENSP00000415520:N415T;ENSP00000376010:N416T;ENSP00000401259:N415T	ENSP00000376010:N416T	N	-	2	0	ZNF566	41631732	.	.	0.999000	0.59377	0.911000	0.54048	.	.	1.802000	0.52723	0.449000	0.29647	AAT		0.308	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		3	32	0	0	0	1	0	3	32				
FBXL7	23194	broad.mit.edu	37	5	15937094	15937094	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:15937094G>A	ENST00000504595.1	+	4	1756	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	FBXL7_ENST00000510662.1_Silent_p.L378L|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Silent_p.L413L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	425					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCTGGCCCTGAACTGCTTCA	0.592																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1273-1275)ctG>ctA		F-box and leucine-rich repeat protein 7							75.0	78.0	77.0					5																	15937094		2063	4210	6273	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937094G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1275G>A	5.37:g.15937094G>A						FBXL7_ENST00000329673.7_Silent_p.L413L|FBXL7_ENST00000510662.1_Silent_p.L378L	p.L425L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1756	+			425					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.1275G>A	CCDS54833.1																																																																																				0.592	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		9	59	0	0	0	1	0	9	59				
PEAK1	79834	broad.mit.edu	37	15	77472681	77472681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:77472681G>A	ENST00000560626.2	-	4	2063	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	PEAK1_ENST00000558305.1_Nonsense_Mutation_p.R530*|PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R530*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	530					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCTTGGTATCGAATTGCACTG	0.408																																						ENST00000560626.2																			0											c.(1588-1590)Cga>Tga		pseudopodium-enriched atypical kinase 1							215.0	193.0	200.0					15																	77472681		1889	4113	6002	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472681G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1588C>T	15.37:g.77472681G>A	ENSP00000452796:p.Arg530*					PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R530*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.R530*	p.R530*			Q9H792	PEAK1_HUMAN			4	2063	-			530					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.1588C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	41	8.832558	0.98970	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.98	5.98	0.97165	.	0.247570	0.15403	U	0.264179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2235	15.0632	0.71970	0.0:0.0:0.825:0.1749	.	.	.	.	X	530	.	ENSP00000309230:R530X	R	-	1	2	AC087465.1	75259736	1.000000	0.71417	0.974000	0.42286	0.964000	0.63967	6.276000	0.72601	2.837000	0.97791	0.591000	0.81541	CGA		0.408	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			24	155	0	0	0	1	0	24	155				
SYBU	55638	broad.mit.edu	37	8	110587650	110587650	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:110587650C>T	ENST00000422135.1	-	8	1992	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SYBU_ENST00000528331.1_Missense_Mutation_p.V374M|SYBU_ENST00000529175.1_Missense_Mutation_p.V287M|SYBU_ENST00000408908.2_Missense_Mutation_p.V493M|SYBU_ENST00000533171.1_Missense_Mutation_p.V493M|SYBU_ENST00000419099.1_Missense_Mutation_p.V492M|SYBU_ENST00000533895.1_Missense_Mutation_p.V492M|SYBU_ENST00000399066.3_Missense_Mutation_p.V490M|SYBU_ENST00000408889.3_Missense_Mutation_p.V374M|SYBU_ENST00000276646.9_Missense_Mutation_p.V493M|SYBU_ENST00000532779.1_Missense_Mutation_p.V425M|SYBU_ENST00000528647.1_Missense_Mutation_p.V492M|SYBU_ENST00000446070.2_Missense_Mutation_p.V492M|SYBU_ENST00000424158.2_Missense_Mutation_p.V498M|SYBU_ENST00000433638.1_Missense_Mutation_p.V493M|SYBU_ENST00000529690.1_Missense_Mutation_p.V363M|SYBU_ENST00000440310.1_Missense_Mutation_p.V493M|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533065.1_Missense_Mutation_p.V374M	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	493					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGTAGGGCACCACGTCGGTC	0.622																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1468-1470)Gtg>Atg		syntabulin (syntaxin-interacting)							65.0	70.0	68.0					8																	110587650		2128	4233	6361	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587650C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1477G>A	8.37:g.110587650C>T	ENSP00000407118:p.Val493Met					SYBU_ENST00000422135.1_Missense_Mutation_p.V493M|SYBU_ENST00000529175.1_Missense_Mutation_p.V287M|SYBU_ENST00000433638.1_Missense_Mutation_p.V493M|SYBU_ENST00000446070.2_Missense_Mutation_p.V492M|SYBU_ENST00000408908.2_Missense_Mutation_p.V493M|SYBU_ENST00000408889.3_Missense_Mutation_p.V374M|SYBU_ENST00000533171.1_Missense_Mutation_p.V493M|SYBU_ENST00000533895.1_Missense_Mutation_p.V492M|SYBU_ENST00000419099.1_Missense_Mutation_p.V492M|SYBU_ENST00000528647.1_Missense_Mutation_p.V492M|SYBU_ENST00000533065.1_Missense_Mutation_p.V374M|SYBU_ENST00000276646.9_Missense_Mutation_p.V493M|SYBU_ENST00000528331.1_Missense_Mutation_p.V374M|SYBU_ENST00000532779.1_Missense_Mutation_p.V425M|SYBU_ENST00000529690.1_Missense_Mutation_p.V363M|SYBU_ENST00000440310.1_Missense_Mutation_p.V493M|SYBU_ENST00000424158.2_Missense_Mutation_p.V498M	p.V490M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	2195	-			493					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1468G>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918938	0.33908	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.96	3.11	0.35812	.	0.272268	0.42548	N	0.000681	T	0.62877	0.2464	L	0.60455	1.87	0.48571	D	0.999678	D;P;P;P;P	0.53462	0.96;0.928;0.952;0.928;0.928	P;P;P;P;P	0.56823	0.605;0.509;0.807;0.509;0.509	T	0.60475	-0.7256	9	0.56958	D	0.05	-13.0282	6.9482	0.24530	0.1325:0.6714:0.1276:0.0685	.	363;425;492;493;490	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	M	492;498;425;490;492;374;287;493;492;493;492;493;493;493;374;374;363;493	.	ENSP00000276646:V493M	V	-	1	0	SYBU	110656826	0.537000	0.26386	0.972000	0.41901	0.131000	0.20780	0.485000	0.22324	0.380000	0.24823	0.655000	0.94253	GTG		0.622	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		20	165	0	0	0	1	0	20	165				
COL6A6	131873	broad.mit.edu	37	3	130282222	130282222	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:130282222G>T	ENST00000358511.6	+	2	406	c.375G>T	c.(373-375)ggG>ggT	p.G125G	COL6A6_ENST00000453409.2_Silent_p.G125G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	125	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCGCAAATGGGAGAGACAAGA	0.507																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(373-375)ggG>ggT		collagen, type VI, alpha 6							41.0	40.0	40.0					3																	130282222		1885	4103	5988	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282222G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.375G>T	3.37:g.130282222G>T						COL6A6_ENST00000453409.2_Silent_p.G125G	p.G125G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	406	+			125			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.375G>T	CCDS46911.1																																																																																				0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		26	50	1	0	3.28513e-13	1	3.61491e-13	26	50				
COL11A1	1301	broad.mit.edu	37	1	103548389	103548389	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:103548389G>T	ENST00000370096.3	-	2	558	c.246C>A	c.(244-246)ctC>ctA	p.L82L	COL11A1_ENST00000353414.4_Silent_p.L82L|COL11A1_ENST00000512756.1_Silent_p.L82L|COL11A1_ENST00000358392.2_Silent_p.L82L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	82	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGGGCACTGAGTTGTGCTT	0.318																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(244-246)ctC>ctA		collagen, type XI, alpha 1							142.0	141.0	141.0					1																	103548389		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548389G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.246C>A	1.37:g.103548389G>T						COL11A1_ENST00000353414.4_Silent_p.L82L|COL11A1_ENST00000370096.3_Silent_p.L82L|COL11A1_ENST00000512756.1_Silent_p.L82L	p.L82L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	563	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	82			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.246C>A	CCDS778.1																																																																																				0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	67	1	0	2.31682e-05	1	2.43651e-05	14	67				
FARSB	10056	broad.mit.edu	37	2	223496381	223496381	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:223496381C>T	ENST00000281828.6	-	8	991	c.728G>A	c.(727-729)aGa>aAa	p.R243K	FARSB_ENST00000536361.1_Missense_Mutation_p.R144K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	243					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TACTGTTATTCTGGAATGATC	0.299																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(727-729)aGa>aAa		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						63.0	70.0	68.0					2																	223496381		2201	4297	6498	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223496381C>T	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.728G>A	2.37:g.223496381C>T	ENSP00000281828:p.Arg243Lys					FARSB_ENST00000536361.1_Missense_Mutation_p.R144K	p.R243K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	8	991	-		Renal(207;0.0183)	243					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.728G>A	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	c	1.214	-0.628812	0.03610	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.27104	1.69;1.69	5.35	2.98	0.34508	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.136223	0.64402	N	0.000003	T	0.06142	0.0159	N	0.00595	-1.35	0.29144	N	0.878814	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38887	-0.9640	10	0.02654	T	1	-16.2643	11.5393	0.50657	0.0:0.077:0.0:0.923	.	243;243	A8K666;Q9NSD9	.;SYFB_HUMAN	K	243;144	ENSP00000281828:R243K;ENSP00000442950:R144K	ENSP00000281828:R243K	R	-	2	0	FARSB	223204625	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.712000	0.54875	0.355000	0.24131	-1.314000	0.01303	AGA		0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		18	30	0	0	0	1	0	18	30				
SLC9A3	6550	broad.mit.edu	37	5	477500	477500	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:477500G>A	ENST00000264938.3	-	11	1716	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.N560N	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	569					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAGTCCACGTTGACCACGT	0.652																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1705-1707)aaC>aaT		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							99.0	74.0	82.0					5																	477500		2203	4300	6503	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:477500G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1707C>T	5.37:g.477500G>A						CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.N560N|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	p.N569N	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		11	1716	-			569					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1707C>T	CCDS3855.1																																																																																				0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		10	99	0	0	0	1	0	10	99				
KRTAP19-3	337970	broad.mit.edu	37	21	31864161	31864161	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr21:31864161A>T	ENST00000334063.4	-	1	114	c.115T>A	c.(115-117)Tgt>Agt	p.C39S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	39						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CCATAGCCACAGCCAGAACCC	0.577																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(115-117)Tgt>Agt		keratin associated protein 19-3							167.0	174.0	172.0					21																	31864161		2203	4300	6503	SO:0001583	missense	337970					intermediate filament		g.chr21:31864161A>T	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.115T>A	21.37:g.31864161A>T	ENSP00000386376:p.Cys39Ser						p.C39S	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	114	-			39						Missense_Mutation	SNP	ENST00000334063.4	37	c.115T>A	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	A	9.319	1.057464	0.19907	.	.	ENSG00000244025	ENST00000334063	T	0.08458	3.09	4.57	-1.18	0.09617	.	.	.	.	.	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39418	-0.9615	8	0.87932	D	0	.	2.8594	0.05582	0.4736:0.0:0.1955:0.3309	.	39	Q7Z4W3	KR193_HUMAN	S	39	ENSP00000386376:C39S	ENSP00000386376:C39S	C	-	1	0	KRTAP19-3	30786032	0.015000	0.18098	0.004000	0.12327	0.012000	0.07955	-0.078000	0.11375	-0.286000	0.09076	0.383000	0.25322	TGT		0.577	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			127	351	0	0	0	1	0	127	351				
LRRC41	10489	broad.mit.edu	37	1	46751399	46751399	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:46751399G>A	ENST00000343304.6	-	4	1415	c.1130C>T	c.(1129-1131)gCa>gTa	p.A377V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	377					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTAGCTGGTGCCCGTTTGTA	0.617																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1129-1131)gCa>gTa		leucine rich repeat containing 41							77.0	80.0	79.0					1																	46751399		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46751399G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1130C>T	1.37:g.46751399G>A	ENSP00000343298:p.Ala377Val					LRRC41_ENST00000472710.1_5'UTR	p.A377V	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1415	-	Acute lymphoblastic leukemia(166;0.155)		377					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1130C>T	CCDS533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.37|16.37	3.103340|3.103340	0.56183|0.56183	.|.	.|.	ENSG00000132128|ENSG00000132128	ENST00000343304;ENST00000371972|ENST00000254454	T|.	0.47528|.	0.84|.	5.51|5.51	4.58|4.58	0.56647|0.56647	.|.	0.499688|.	0.19913|.	N|.	0.103246|.	T|T	0.26340|0.26340	0.0643|0.0643	N|N	0.08118|0.08118	0|0	0.25139|0.25139	N|N	0.990512|0.990512	P;B;B|.	0.42518|.	0.782;0.13;0.397|.	B;B;B|.	0.32149|.	0.141;0.055;0.098|.	T|T	0.26677|0.26677	-1.0096|-1.0096	10|6	0.41790|0.87932	T|D	0.15|0	-1.0673|-1.0673	13.0389|13.0389	0.58887|0.58887	0.0:0.3324:0.6676:0.0|0.0:0.3324:0.6676:0.0	.|.	377;355;377|.	Q15345-3;E9PE58;Q15345|.	.;.;LRC41_HUMAN|.	V|Y	377;355|206	ENSP00000343298:A377V|.	ENSP00000343298:A377V|ENSP00000254454:H206Y	A|H	-|-	2|1	0|0	LRRC41|LRRC41	46523986|46523986	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	1.592000|1.592000	0.36676|0.36676	1.296000|1.296000	0.44742|0.44742	0.450000|0.450000	0.29827|0.29827	GCA|CAC		0.617	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		26	170	0	0	0	1	0	26	170				
TTC23L	153657	broad.mit.edu	37	5	34867132	34867132	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:34867132G>A	ENST00000505624.1	+	7	901	c.798G>A	c.(796-798)caG>caA	p.Q266Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	266										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGATAGAGCAGCTGAGGAGGA	0.547																																						ENST00000505624.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(796-798)caG>caA		tetratricopeptide repeat domain 23-like							40.0	43.0	42.0					5																	34867132		1989	4154	6143	SO:0001819	synonymous_variant	153657						binding	g.chr5:34867132G>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.798G>A	5.37:g.34867132G>A						TTC23L_ENST00000514080.1_3'UTR	p.Q266Q	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN			7	901	+			266					Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	c.798G>A	CCDS54840.1																																																																																				0.547	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		8	7	0	0	0	1	0	8	7				
ARL5B	221079	broad.mit.edu	37	10	18957556	18957556	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:18957556G>A	ENST00000377275.3	+	3	438	c.205G>A	c.(205-207)Ggt>Agt	p.G69S		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	69					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						GGATATTGGTGGTCAGGAGTC	0.373																																						ENST00000377275.3																			0				lung(1)|ovary(1)	2						c.(205-207)Ggt>Agt		ADP-ribosylation factor-like 5B							149.0	142.0	144.0					10																	18957556		2203	4300	6503	SO:0001583	missense	221079				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr10:18957556G>A	AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23052	protein-coding gene	gene with protein product		608909	"""ADP-ribosylation factor-like 8"""	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.205G>A	10.37:g.18957556G>A	ENSP00000366487:p.Gly69Ser						p.G69S	NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN			3	438	+			69						Missense_Mutation	SNP	ENST00000377275.3	37	c.205G>A	CCDS7131.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029595	0.93518	.	.	ENSG00000165997	ENST00000377275	D	0.99186	-5.53	5.83	5.83	0.93111	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	H	0.98664	4.295	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.97607	1.0127	10	0.87932	D	0	-13.4351	20.1162	0.97934	0.0:0.0:1.0:0.0	.	69	Q96KC2	ARL5B_HUMAN	S	69	ENSP00000366487:G69S	ENSP00000366487:G69S	G	+	1	0	ARL5B	18997562	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	9.864000	0.99589	2.756000	0.94617	0.655000	0.94253	GGT		0.373	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		9	75	0	0	0	1	0	9	75				
SUGP2	10147	broad.mit.edu	37	19	19136234	19136234	+	Missense_Mutation	SNP	C	C	T	rs576858379		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:19136234C>T	ENST00000601879.1	-	3	1220	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	SUGP2_ENST00000456085.2_Missense_Mutation_p.R77Q|SUGP2_ENST00000452918.2_Missense_Mutation_p.R308Q|SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000600377.1_Missense_Mutation_p.R322Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.R308Q			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	308					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCTGGGGAGCCGAAGATTCTT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18020	0.001		0.0	False		,,,				2504	0.0					ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(922-924)cGg>cAg		SURP and G patch domain containing 2							96.0	99.0	98.0					19																	19136234		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136234C>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.923G>A	19.37:g.19136234C>T	ENSP00000472286:p.Arg308Gln					SUGP2_ENST00000452918.2_Missense_Mutation_p.R308Q|SUGP2_ENST00000456085.2_Missense_Mutation_p.R77Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.R308Q|SUGP2_ENST00000600377.1_Missense_Mutation_p.R322Q	p.R308Q			Q8IX01	SUGP2_HUMAN			3	1220	-			308					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.923G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366017	0.41902	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.14391	2.79;2.8;2.79;2.51	5.24	5.24	0.73138	.	0.341306	0.25375	N	0.031129	T	0.12347	0.0300	N	0.24115	0.695	0.09310	N	1	D;D;D	0.71674	0.998;0.994;0.967	P;P;B	0.47864	0.559;0.478;0.309	T	0.13150	-1.0520	10	0.54805	T	0.06	-11.5716	9.3013	0.37847	0.0:0.8971:0.0:0.1029	.	77;308;308	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	Q	308;308;308;77	ENSP00000337926:R308Q;ENSP00000332373:R308Q;ENSP00000389380:R308Q;ENSP00000409603:R77Q	ENSP00000332373:R308Q	R	-	2	0	SUGP2	18997234	0.879000	0.30193	0.029000	0.17559	0.996000	0.88848	1.623000	0.37008	2.455000	0.83008	0.462000	0.41574	CGG		0.453	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		15	114	0	0	0	1	0	15	114				
HNRNPK	3190	broad.mit.edu	37	9	86586903	86586903	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:86586903T>C	ENST00000376264.2	-	11	1105	c.847A>G	c.(847-849)Atg>Gtg	p.M283V	HNRNPK_ENST00000376281.4_Missense_Mutation_p.M283V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.M283V|HNRNPK_ENST00000376263.3_Missense_Mutation_p.M283V|HNRNPK_ENST00000351839.3_Missense_Mutation_p.M283V|RP11-575L7.8_ENST00000448389.1_RNA|MIR7-1_ENST00000384871.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	283	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CGAGGGCTCATATCATCATAA	0.607																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(847-849)Atg>Gtg		heterogeneous nuclear ribonucleoprotein K							50.0	57.0	54.0					9																	86586903		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86586903T>C		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.847A>G	9.37:g.86586903T>C	ENSP00000365440:p.Met283Val					HNRNPK_ENST00000376281.4_Missense_Mutation_p.M283V|HNRNPK_ENST00000351839.3_Missense_Mutation_p.M283V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.M283V|HNRNPK_ENST00000376264.2_Missense_Mutation_p.M283V	p.M283V	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			11	1070	-			283			2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.847A>G	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881206	0.51801	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.44482	0.92;0.96;0.92;0.96;0.96	5.31	5.31	0.75309	.	0.150069	0.64402	D	0.000003	T	0.34571	0.0902	L	0.39898	1.24	0.43819	D	0.996382	B;B;B;B;B;B;B;B	0.15473	0.003;0.001;0.008;0.013;0.007;0.005;0.008;0.004	B;B;B;B;B;B;B;B	0.21151	0.004;0.004;0.01;0.01;0.033;0.015;0.005;0.015	T	0.12167	-1.0558	10	0.17369	T	0.5	-4.0961	14.1354	0.65284	0.0:0.0:0.0:1.0	.	259;248;283;278;283;259;283;283	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	V	283;283;283;283;283;248;283;278;259;214	ENSP00000365458:M283V;ENSP00000365440:M283V;ENSP00000365439:M283V;ENSP00000317788:M283V;ENSP00000353552:M283V	ENSP00000317788:M283V	M	-	1	0	HNRNPK	85776723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.428000	0.80296	2.130000	0.65690	0.533000	0.62120	ATG		0.607	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			50	49	0	0	0	1	0	50	49				
CHIA	27159	broad.mit.edu	37	1	111854313	111854313	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:111854313C>G	ENST00000369740.1	+	3	131	c.28C>G	c.(28-30)Ctt>Gtt	p.L10V	CHIA_ENST00000343320.6_Missense_Mutation_p.L10V|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000353665.6_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	10					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTATCCAGGTCTTGTCCTTAT	0.378																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(28-30)Ctt>Gtt		chitinase, acidic							249.0	236.0	240.0					1																	111854313		1875	4103	5978	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854313C>G	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.28C>G	1.37:g.111854313C>G	ENSP00000358755:p.Leu10Val					CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.L10V|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000451398.2_5'UTR	p.L10V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	3	131	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	10					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.28C>G	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	-	6.049	0.377335	0.11466	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.06294	3.32;3.32	4.38	1.41	0.22369	.	0.000000	0.39544	U	0.001334	T	0.11367	0.0277	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.01961	-1.1239	10	0.48119	T	0.1	-11.2731	6.7166	0.23306	0.0:0.6042:0.0:0.3958	.	10	Q9BZP6	CHIA_HUMAN	V	10	ENSP00000358755:L10V;ENSP00000341828:L10V	ENSP00000341828:L10V	L	+	1	0	CHIA	111655836	0.998000	0.40836	0.077000	0.20336	0.036000	0.12997	0.431000	0.21444	0.188000	0.20168	0.655000	0.94253	CTT		0.378	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			22	115	0	0	0	1	0	22	115				
TTN	7273	broad.mit.edu	37	2	179439089	179439089	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:179439089G>C	ENST00000591111.1	-	276	67071	c.66847C>G	c.(66847-66849)Ccc>Gcc	p.P22283A	TTN_ENST00000589042.1_Missense_Mutation_p.P23924A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15051A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21356A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14984A|TTN_ENST00000460472.2_Missense_Mutation_p.P14859A|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22283	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GGGTCAATGGGATCCAGAGCC	0.428																																						ENST00000589042.1																			0				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						c.(71770-71772)Ccc>Gcc		titin							120.0	119.0	120.0					2																	179439089		1893	4116	6009	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439089G>C	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.66847C>G	2.37:g.179439089G>C	ENSP00000465570:p.Pro22283Ala					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15051A|TTN_ENST00000342992.6_Missense_Mutation_p.P21356A|TTN_ENST00000359218.5_Missense_Mutation_p.P14984A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22283A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14859A|TTN-AS1_ENST00000590932.1_RNA	p.P23924A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	71994	-			22283			Ig-like 120.		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.71770C>G		.	.	.	.	.	.	.	.	.	.	G	10.39	1.338085	0.24253	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.44	5.44	0.79542	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74261	0.3693	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.994;0.998;0.998;0.994	T	0.81086	-0.1092	9	0.87932	D	0	.	19.2418	0.93887	0.0:0.0:1.0:0.0	.	14859;14984;15051;22283	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	21356;14859;15051;14984;14857	ENSP00000343764:P21356A;ENSP00000434586:P14859A;ENSP00000340554:P15051A;ENSP00000352154:P14984A	ENSP00000340554:P15051A	P	-	1	0	TTN	179147335	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	9.869000	0.99810	2.561000	0.86390	0.455000	0.32223	CCC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	228	0	0	0	1	0	32	228				
RGS12	6002	broad.mit.edu	37	4	3430357	3430357	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:3430357C>A	ENST00000344733.5	+	16	4388	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	RGS12_ENST00000336727.3_Missense_Mutation_p.P1162T|RGS12_ENST00000382788.3_Missense_Mutation_p.P1162T|RGS12_ENST00000338806.4_Missense_Mutation_p.P514T|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000306648.7_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1162					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCTAGGGATCCCCGGCTTTC	0.338																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3484-3486)Ccc>Acc		regulator of G-protein signaling 12							46.0	51.0	49.0					4																	3430357		2202	4300	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430357C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3484C>A	4.37:g.3430357C>A	ENSP00000339381:p.Pro1162Thr					RGS12_ENST00000538395.1_Intron|RGS12_ENST00000344733.5_Missense_Mutation_p.P1162T|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Missense_Mutation_p.P514T|RGS12_ENST00000382788.3_Missense_Mutation_p.P1162T	p.P1162T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4388	+			1162					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3484C>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759113	0.49468	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.35236	1.59;1.59;1.59;1.32	4.86	4.86	0.63082	.	0.225081	0.38381	N	0.001719	T	0.43411	0.1246	M	0.63428	1.95	0.80722	D	1	D;P;P;P	0.58268	0.982;0.935;0.839;0.9	P;P;B;B	0.52598	0.625;0.703;0.298;0.295	T	0.23797	-1.0178	10	0.12430	T	0.62	-34.9662	12.6422	0.56716	0.0:0.7181:0.2819:0.0	.	504;514;1162;1162	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	T	1162;1162;1162;514	ENSP00000339381:P1162T;ENSP00000338509:P1162T;ENSP00000372238:P1162T;ENSP00000342133:P514T	ENSP00000338509:P1162T	P	+	1	0	RGS12	3400155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.257000	0.58816	2.401000	0.81631	0.655000	0.94253	CCC		0.338	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		11	52	1	0	3.86212e-05	1	4.03188e-05	11	52				
KIAA0556	23247	broad.mit.edu	37	16	27720176	27720176	+	Missense_Mutation	SNP	G	G	A	rs200936295		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:27720176G>A	ENST00000261588.4	+	13	1559	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	514						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCGCCCCACGATGTGGATAT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18483	0.001		0.0	False		,,,				2504	0.0					ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(1540-1542)Gat>Aat		KIAA0556							86.0	76.0	79.0					16																	27720176		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27720176G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1540G>A	16.37:g.27720176G>A	ENSP00000261588:p.Asp514Asn					CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	p.D514N	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			13	1559	+			514					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1540G>A	CCDS32415.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.6	4.180213	0.78564	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.13538	2.58	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	M	0.77103	2.36	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.24799	-1.0150	10	0.62326	D	0.03	-3.2738	18.1626	0.89714	0.0:0.0:1.0:0.0	.	422;514	Q8N803;O60303	.;K0556_HUMAN	N	514;421	ENSP00000261588:D514N	ENSP00000261588:D514N	D	+	1	0	KIAA0556	27627677	1.000000	0.71417	0.262000	0.24481	0.166000	0.22503	7.009000	0.76347	2.575000	0.86900	0.462000	0.41574	GAT		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		10	104	0	0	0	1	0	10	104				
GRID2	2895	broad.mit.edu	37	4	94145812	94145812	+	Silent	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:94145812T>A	ENST00000282020.4	+	7	1269	c.1011T>A	c.(1009-1011)gcT>gcA	p.A337A	GRID2_ENST00000510992.1_Silent_p.A242A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	337					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTGCTAATGCTTTTCATAAGA	0.448																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1009-1011)gcT>gcA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						85.0	81.0	83.0					4																	94145812		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94145812T>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1011T>A	4.37:g.94145812T>A						GRID2_ENST00000510992.1_Silent_p.A242A	p.A337A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	7	1269	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	337					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1011T>A	CCDS3637.1																																																																																				0.448	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			3	40	0	0	0	1	0	3	40				
NAT16	375607	broad.mit.edu	37	7	100816600	100816600	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:100816600T>C	ENST00000300303.2	-	3	752	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	NAT16_ENST00000455377.1_Missense_Mutation_p.K172E	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	172	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										AGGCGGTATTTCTTCAGCTCC	0.657																																						ENST00000300303.2																			0											c.(514-516)Aaa>Gaa		N-acetyltransferase 16 (GCN5-related, putative)							49.0	47.0	48.0					7																	100816600		2203	4300	6503	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100816600T>C	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.514A>G	7.37:g.100816600T>C	ENSP00000300303:p.Lys172Glu					NAT16_ENST00000455377.1_Missense_Mutation_p.K172E	p.K172E	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			3	752	-			172			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.514A>G	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110333	0.77210	.	.	ENSG00000167011	ENST00000300303;ENST00000455377	T;T	0.51071	0.72;0.72	3.99	1.5	0.22942	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.133374	0.47093	N	0.000253	T	0.41994	0.1183	M	0.70275	2.135	0.80722	D	1	B	0.30937	0.301	B	0.30572	0.117	T	0.30650	-0.9971	10	0.72032	D	0.01	.	5.4117	0.16352	0.0:0.0996:0.1757:0.7246	.	172	Q8N8M0	CG052_HUMAN	E	172	ENSP00000300303:K172E;ENSP00000395125:K172E	ENSP00000300303:K172E	K	-	1	0	C7orf52	100603320	1.000000	0.71417	0.869000	0.34112	0.995000	0.86356	3.579000	0.53900	0.193000	0.20303	0.379000	0.24179	AAA		0.657	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		25	59	0	0	0	1	0	25	59				
FCGR2B	2213	broad.mit.edu	37	1	161645049	161645049	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:161645049C>G	ENST00000358671.5	+	6	844	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367962.4_Missense_Mutation_p.L255V|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L248V|FCGR2B_ENST00000403078.3_Intron|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L248V	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	255					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCCAGCTCTCCCAGGATA	0.602			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.(763-765)Ctc>Gtc		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						32.0	29.0	30.0					1																	161645049		2202	4300	6502	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161645049C>G	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.763C>G	1.37:g.161645049C>G	ENSP00000351497:p.Leu255Val					FCGR2B_ENST00000358671.5_Missense_Mutation_p.L255V|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L248V|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L248V|FCGR2B_ENST00000236937.9_Intron	p.L255V			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	890	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		255					A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.763C>G	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834450	0.32421	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000367961;ENST00000358671	T;T;T;T	0.30714	4.63;1.52;1.52;4.63	5.06	2.0	0.26442	.	0.643972	0.12897	N	0.430124	T	0.11495	0.0280	N	0.19112	0.55	0.09310	N	1	P;P	0.50819	0.939;0.816	P;B	0.50314	0.637;0.205	T	0.07121	-1.0789	10	0.42905	T	0.14	.	6.271	0.20955	0.1468:0.6854:0.0:0.1678	.	248;255	P31994-3;P31994	.;FCG2B_HUMAN	V	255;248;248;255	ENSP00000356939:L255V;ENSP00000356937:L248V;ENSP00000356938:L248V;ENSP00000351497:L255V	ENSP00000351497:L255V	L	+	1	0	FCGR2B	159911673	0.021000	0.18746	0.041000	0.18516	0.657000	0.38888	0.420000	0.21263	0.486000	0.27676	0.561000	0.74099	CTC		0.602	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		3	16	0	0	0	1	0	3	16				
CACNA1S	779	broad.mit.edu	37	1	201036040	201036040	+	Missense_Mutation	SNP	C	C	T	rs202131129		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:201036040C>T	ENST00000362061.3	-	20	2858	c.2632G>A	c.(2632-2634)Gtg>Atg	p.V878M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V878M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	878					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAGGGACACGGCCACCACC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		20167	0.001		0.0	False		,,,				2504	0.0					ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2632-2634)Gtg>Atg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	MET/VAL	0,4406		0,0,2203	95.0	75.0	82.0		2632	3.8	1.0	1		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNA1S	NM_000069.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	878/1874	201036040	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201036040C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2632G>A	1.37:g.201036040C>T	ENSP00000355192:p.Val878Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.V878M	p.V878M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			20	2858	-			878					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2632G>A	CCDS1407.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.0	4.365204	0.82463	0.0	1.16E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97575	-4.44;-4.44	3.81	3.81	0.43845	Ion transport (1);	0.068348	0.56097	D	0.000022	D	0.98557	0.9518	M	0.89785	3.06	0.50632	D	0.999884	D	0.76494	0.999	D	0.74023	0.982	D	0.99780	1.1027	10	0.87932	D	0	.	15.6578	0.77155	0.0:1.0:0.0:0.0	.	878	Q13698	CAC1S_HUMAN	M	878	ENSP00000355192:V878M;ENSP00000356307:V878M	ENSP00000355192:V878M	V	-	1	0	CACNA1S	199302663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.019000	0.70818	1.835000	0.53391	0.549000	0.68633	GTG		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		7	44	0	0	0	1	0	7	44				
PLCL1	5334	broad.mit.edu	37	2	198949130	198949130	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:198949130C>T	ENST00000428675.1	+	2	1287	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	PLCL1_ENST00000437704.2_Missense_Mutation_p.R199C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	297					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACTAACCACCCGCGTGACCGA	0.373																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(889-891)Cgc>Tgc		phospholipase C-like 1	Quinacrine(DB01103)						97.0	99.0	98.0					2																	198949130		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949130C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.889C>T	2.37:g.198949130C>T	ENSP00000402861:p.Arg297Cys					PLCL1_ENST00000437704.2_Missense_Mutation_p.R199C	p.R297C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1287	+			297					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.889C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230405	0.39399	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.46063	0.88;0.88	6.04	5.15	0.70609	EF-hand-like domain (1);	0.188783	0.34580	N	0.003851	T	0.52517	0.1739	L	0.54323	1.7	0.33868	D	0.634648	D;D	0.76494	0.999;0.999	P;P	0.55871	0.786;0.786	T	0.65833	-0.6072	9	.	.	.	.	14.1928	0.65649	0.2723:0.7277:0.0:0.0	.	297;223	Q15111;B4DYZ4	PLCL1_HUMAN;.	C	297;199	ENSP00000402861:R297C;ENSP00000414138:R199C	.	R	+	1	0	PLCL1	198657375	0.992000	0.36948	0.976000	0.42696	0.858000	0.48976	2.631000	0.46502	1.525000	0.49052	0.561000	0.74099	CGC		0.373	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		39	159	0	0	0	1	0	39	159				
CCDC88B	283234	broad.mit.edu	37	11	64111800	64111800	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:64111800C>A	ENST00000356786.5	+	14	1831	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	596						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCGTAGATCCTCTCTCCAG	0.642																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1786-1788)tCc>tAc		coiled-coil domain containing 88B							34.0	38.0	36.0					11																	64111800		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111800C>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1787C>A	11.37:g.64111800C>A	ENSP00000349238:p.Ser596Tyr					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.S596Y	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1831	+			596					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1787C>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	9.786	1.176728	0.21704	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23950	1.88	3.54	-1.87	0.07737	.	.	.	.	.	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	0.999998	B;P;B	0.46327	0.41;0.876;0.41	B;B;B	0.37888	0.146;0.26;0.146	T	0.13926	-1.0491	9	0.62326	D	0.03	.	0.7521	0.00992	0.2035:0.29:0.289:0.2176	.	596;245;596	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	Y	596	ENSP00000349238:S596Y	ENSP00000349238:S596Y	S	+	2	0	CCDC88B	63868376	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.751000	0.04803	-0.523000	0.06409	-0.400000	0.06385	TCC		0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		16	77	1	0	3.52763e-06	1	3.77961e-06	16	77				
GRM7	2917	broad.mit.edu	37	3	7188349	7188349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:7188349G>T	ENST00000357716.4	+	2	1004	c.730G>T	c.(730-732)Gag>Tag	p.E244*	GRM7_ENST00000402647.2_Nonsense_Mutation_p.E244*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E244*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E244*|GRM7_ENST00000486284.1_Nonsense_Mutation_p.E244*	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	244					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GATTTCCAAAGAGGCAGGTAG	0.448																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(730-732)Gag>Tag		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						58.0	62.0	61.0					3																	7188349		2203	4300	6503	SO:0001587	stop_gained	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188349G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.730G>T	3.37:g.7188349G>T	ENSP00000350348:p.Glu244*					GRM7_ENST00000403881.1_Nonsense_Mutation_p.E244*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.E244*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.E244*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E244*	p.E244*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	1004	+			244					Q8NFS2|Q8NFS3|Q8NFS4	Nonsense_Mutation	SNP	ENST00000357716.4	37	c.730G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753831	0.89843	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	.	.	.	5.87	5.87	0.94306	.	0.231325	0.37261	N	0.002177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	.	.	.	X	36;244;244;244;244;244;244;244	.	.	E	+	1	0	GRM7	7163349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GAG		0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		8	38	1	0	5.18039e-06	1	5.52963e-06	8	38				
XIRP2	129446	broad.mit.edu	37	2	168100467	168100467	+	Silent	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:168100467A>G	ENST00000409195.1	+	9	2654	c.2565A>G	c.(2563-2565)gaA>gaG	p.E855E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.E633E|XIRP2_ENST00000295237.9_Silent_p.E855E|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	680					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTAAAAGAAGTTCCTGATG	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2563-2565)gaA>gaG		xin actin-binding repeat containing 2							109.0	108.0	108.0					2																	168100467		1844	4096	5940	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100467A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2565A>G	2.37:g.168100467A>G						XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.E855E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E633E	p.E855E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2654	+			680					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2565A>G	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		53	129	0	0	0	1	0	53	129				
ZNF746	155061	broad.mit.edu	37	7	149171666	149171666	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:149171666G>A	ENST00000340622.3	-	7	2024	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	ZNF746_ENST00000458143.2_Missense_Mutation_p.R583C			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	582					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGTGCTTGCGGAGGTGGTCC	0.682																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1744-1746)Cgc>Tgc		zinc finger protein 746							51.0	39.0	43.0					7																	149171666		2203	4300	6503	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171666G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1744C>T	7.37:g.149171666G>A	ENSP00000345140:p.Arg582Cys					ZNF746_ENST00000458143.2_Missense_Mutation_p.R583C	p.R582C			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	2024	-	Melanoma(164;0.165)		582					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.1744C>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744990	0.69418	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.07688	3.17;3.17	5.58	5.58	0.84498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000101	T	0.17959	0.0431	M	0.62209	1.925	0.40315	D	0.978763	D;P	0.71674	0.998;0.926	P;P	0.53649	0.731;0.635	T	0.00371	-1.1782	10	0.40728	T	0.16	-22.5522	12.757	0.57341	0.0:0.165:0.835:0.0	.	583;582	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	C	582;583	ENSP00000345140:R582C;ENSP00000395007:R583C	ENSP00000345140:R582C	R	-	1	0	ZNF746	148802599	0.000000	0.05858	0.999000	0.59377	0.993000	0.82548	-1.570000	0.02140	2.630000	0.89119	0.462000	0.41574	CGC		0.682	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		4	33	0	0	0	1	0	4	33				
MCPH1	79648	broad.mit.edu	37	8	6301914	6301914	+	Splice_Site	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:6301914A>G	ENST00000344683.5	+	8	747	c.671A>G	c.(670-672)gAt>gGt	p.D224G	MCPH1_ENST00000522905.1_Splice_Site_p.D176G|MCPH1_ENST00000519480.1_Splice_Site_p.D224G	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	224					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGTTTTCCAGATGAATACTTT	0.338																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.e8-1		microcephalin 1							98.0	89.0	92.0					8																	6301914		1821	4080	5901	SO:0001630	splice_region_variant	79648					microtubule organizing center		g.chr8:6301914A>G	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.671-1A>G	8.37:g.6301914A>G						MCPH1_ENST00000522905.1_Splice_Site_p.D176_splice|MCPH1_ENST00000519480.1_Splice_Site_p.D224_splice	p.D224_splice	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	747	+		Hepatocellular(245;0.0663)	224					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Splice_Site	SNP	ENST00000344683.5	37	c.670_splice	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	6.662	0.490660	0.12702	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.07688	3.67;3.32;3.17	5.15	-1.38	0.09027	.	1.058010	0.07279	N	0.870508	T	0.11153	0.0272	M	0.75447	2.3	0.30819	N	0.737951	B;B;B	0.25719	0.048;0.132;0.048	B;B;B	0.18871	0.023;0.017;0.023	T	0.29058	-1.0024	9	.	.	.	.	8.8739	0.35334	0.5614:0.0:0.4386:0.0	.	176;224;224	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	G	224;224;176	ENSP00000342924:D224G;ENSP00000430962:D224G;ENSP00000430768:D176G	.	D	+	2	0	MCPH1	6289322	0.972000	0.33761	0.016000	0.15963	0.079000	0.17450	0.979000	0.29500	-0.419000	0.07439	-0.264000	0.10439	GAT		0.338	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	Missense_Mutation	6	37	0	0	0	1	0	6	37				
GAL3ST4	79690	broad.mit.edu	37	7	99757677	99757677	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:99757677G>A	ENST00000360039.4	-	4	1727	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Silent_p.P445P|GAL3ST4_ENST00000426974.2_Silent_p.P383P|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	445					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGGTCTTGGGGGCTCAATC	0.557																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1333-1335)ccC>ccT		galactose-3-O-sulfotransferase 4							99.0	83.0	88.0					7																	99757677		2203	4300	6503	SO:0001819	synonymous_variant	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757677G>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1335C>T	7.37:g.99757677G>A						GAL3ST4_ENST00000426974.2_Silent_p.P383P|GAL3ST4_ENST00000413800.1_Silent_p.P445P|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR	p.P445P	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1727	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		445					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	ENST00000360039.4	37	c.1335C>T	CCDS5688.1																																																																																				0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		21	121	0	0	0	1	0	21	121				
CCDC88B	283234	broad.mit.edu	37	11	64112192	64112192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:64112192C>T	ENST00000356786.5	+	14	2223	c.2179C>T	c.(2179-2181)Cag>Tag	p.Q727*	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	727						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTCGCAGAGCAGGAGGCCCT	0.622																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2179-2181)Cag>Tag		coiled-coil domain containing 88B							48.0	54.0	52.0					11																	64112192		2199	4297	6496	SO:0001587	stop_gained	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112192C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2179C>T	11.37:g.64112192C>T	ENSP00000349238:p.Gln727*					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.Q727*	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	2223	+			727					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Nonsense_Mutation	SNP	ENST00000356786.5	37	c.2179C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	38	6.647425	0.97730	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	.	.	.	3.92	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.0299	0.30459	0.1741:0.6433:0.1826:0.0	.	.	.	.	X	727	.	ENSP00000349238:Q727X	Q	+	1	0	CCDC88B	63868768	0.954000	0.32549	0.963000	0.40424	0.761000	0.43186	0.188000	0.17018	0.310000	0.22990	0.450000	0.29827	CAG		0.622	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		11	48	0	0	0	1	0	11	48				
SPATA16	83893	broad.mit.edu	37	3	172766782	172766782	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:172766782G>C	ENST00000351008.3	-	3	898	c.715C>G	c.(715-717)Cta>Gta	p.L239V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	239					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCATCCGTAGATAACAGGTA	0.428																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(715-717)Cta>Gta		spermatogenesis associated 16							142.0	124.0	130.0					3																	172766782		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172766782G>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.715C>G	3.37:g.172766782G>C	ENSP00000341765:p.Leu239Val						p.L239V	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		3	898	-	Ovarian(172;0.00319)|Breast(254;0.197)		239					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.715C>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077903	0.55753	.	.	ENSG00000144962	ENST00000351008	T	0.25579	1.79	5.07	3.25	0.37280	Tetratricopeptide-like helical (1);	0.000000	0.44097	D	0.000500	T	0.32496	0.0831	L	0.29908	0.895	0.28475	N	0.915236	D	0.67145	0.996	D	0.80764	0.994	T	0.04708	-1.0932	10	0.87932	D	0	-8.2183	5.9272	0.19118	0.3148:0.0:0.6852:0.0	.	239	Q9BXB7	SPT16_HUMAN	V	239	ENSP00000341765:L239V	ENSP00000341765:L239V	L	-	1	2	SPATA16	174249476	0.978000	0.34361	0.903000	0.35520	0.977000	0.68977	1.702000	0.37836	1.276000	0.44395	0.655000	0.94253	CTA		0.428	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	71	0	0	0	1	0	7	71				
SNX29	92017	broad.mit.edu	37	16	12223508	12223508	+	Silent	SNP	C	C	T	rs371383536		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:12223508C>T	ENST00000566228.1	+	13	1557	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	SNX29_ENST00000306030.3_Silent_p.D111D|SNX29_ENST00000323433.4_Silent_p.D111D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	496						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACCTGCTCGACGGTGAGATGG	0.587																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1486-1488)gaC>gaT		sorting nexin 29		C		1,4181		0,1,2090	34.0	36.0	36.0		333	-10.4	0.0	16		36	0,8458		0,0,4229	no	coding-synonymous	SNX29	NM_001080530.2		0,1,6319	TT,TC,CC		0.0,0.0239,0.0079		111/429	12223508	1,12639	2091	4229	6320	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12223508C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1488C>T	16.37:g.12223508C>T						SNX29_ENST00000306030.3_Silent_p.D111D|SNX29_ENST00000323433.4_Silent_p.D111D	p.D496D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			13	1557	+			111					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.1488C>T	CCDS10553.2																																																																																				0.587	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			9	17	0	0	0	1	0	9	17				
FMN2	56776	broad.mit.edu	37	1	240341333	240341333	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:240341333C>T	ENST00000319653.9	+	3	2125	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	632					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCAAACCTCCCGATGAGGAA	0.483																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1894-1896)cCc>cTc		formin 2							101.0	97.0	98.0					1																	240341333		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240341333C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1895C>T	1.37:g.240341333C>T	ENSP00000318884:p.Pro632Leu					RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	p.P632L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2125	+	Ovarian(103;0.127)	all_cancers(173;0.013)	632					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1895C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111645	0.08831	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80123	-1.34;-1.34	5.37	2.43	0.29744	.	0.495536	0.19933	N	0.102804	T	0.72835	0.3510	L	0.54323	1.7	0.19775	N	0.999957	B	0.24721	0.11	B	0.16722	0.016	T	0.66089	-0.6010	10	0.72032	D	0.01	.	7.7196	0.28725	0.0:0.7214:0.133:0.1456	.	632	Q9NZ56	FMN2_HUMAN	L	65;632	ENSP00000409308:P65L;ENSP00000318884:P632L	ENSP00000318884:P632L	P	+	2	0	FMN2	238407956	0.000000	0.05858	0.200000	0.23457	0.019000	0.09904	0.123000	0.15708	0.835000	0.34877	0.650000	0.86243	CCC		0.483	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		11	72	0	0	0	1	0	11	72				
CEP152	22995	broad.mit.edu	37	15	49097766	49097766	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:49097766C>G	ENST00000380950.2	-	2	268	c.81G>C	c.(79-81)gaG>gaC	p.E27D	CEP152_ENST00000399334.3_Missense_Mutation_p.E27D|CEP152_ENST00000325747.5_Missense_Mutation_p.E27D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	27					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTACCTCTTTCTCTCTTTCAT	0.353																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(79-81)gaG>gaC		centrosomal protein 152kDa							125.0	108.0	113.0					15																	49097766		1822	4073	5895	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49097766C>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.81G>C	15.37:g.49097766C>G	ENSP00000370337:p.Glu27Asp					CEP152_ENST00000325747.5_Missense_Mutation_p.E27D|CEP152_ENST00000399334.3_Missense_Mutation_p.E27D	p.E27D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	2	268	-		all_lung(180;0.0428)	27					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.81G>C	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403416	0.62288	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.75938	1.97;-0.98;1.97	5.03	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	M	0.68952	2.095	0.21527	N	0.999655	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.83275	0.979;0.996;0.996	T	0.72054	-0.4406	10	0.87932	D	0	-19.9664	9.0348	0.36280	0.0:0.6732:0.0:0.3268	.	27;27;27	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	27	ENSP00000370337:E27D;ENSP00000321000:E27D;ENSP00000382271:E27D	ENSP00000321000:E27D	E	-	3	2	CEP152	46885058	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	0.826000	0.27407	0.298000	0.22638	0.591000	0.81541	GAG		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		8	29	0	0	0	1	0	8	29				
EVC2	132884	broad.mit.edu	37	4	5624391	5624391	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:5624391C>T	ENST00000344408.5	-	14	2427	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	EVC2_ENST00000344938.1_Missense_Mutation_p.E792K|EVC2_ENST00000310917.2_Missense_Mutation_p.E712K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	792					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCTCCCCCTCCAGCTGCTCG	0.652																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(2134-2136)Gag>Aag		Ellis van Creveld syndrome 2							66.0	48.0	54.0					4																	5624391		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5624391C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2374G>A	4.37:g.5624391C>T	ENSP00000342144:p.Glu792Lys					EVC2_ENST00000344938.1_Missense_Mutation_p.E792K|EVC2_ENST00000344408.5_Missense_Mutation_p.E792K	p.E712K	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			14	2865	-			792					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2134G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555141	0.86231	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75938	-0.98;-0.97;-0.98	5.44	4.54	0.55810	.	0.121825	0.56097	D	0.000023	D	0.82504	0.5051	L	0.59436	1.845	0.41567	D	0.988668	D	0.67145	0.996	D	0.66847	0.947	D	0.84449	0.0587	10	0.72032	D	0.01	-38.2501	14.7549	0.69557	0.0:0.855:0.145:0.0	.	792	Q86UK5	LBN_HUMAN	K	792;712;792	ENSP00000339954:E792K;ENSP00000311683:E712K;ENSP00000342144:E792K	ENSP00000311683:E712K	E	-	1	0	EVC2	5675292	0.990000	0.36364	0.997000	0.53966	0.897000	0.52465	2.877000	0.48506	2.549000	0.85964	0.462000	0.41574	GAG		0.652	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		9	55	0	0	0	1	0	9	55				
TTN	7273	broad.mit.edu	37	2	179498394	179498394	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:179498394G>T	ENST00000591111.1	-	182	37993	c.37769C>A	c.(37768-37770)cCc>cAc	p.P12590H	TTN_ENST00000589042.1_Missense_Mutation_p.P14231H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P5358H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11663H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5291H|TTN_ENST00000460472.2_Missense_Mutation_p.P5166H			Q8WZ42	TITIN_HUMAN	titin	12590	Ig-like 84.				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)			AGTGAAGTAGGGATCGGCCTC	0.333																																						ENST00000589042.1																			0				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						c.(42691-42693)cCc>cAc		titin							50.0	45.0	46.0					2																	179498394		1851	4093	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498394G>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.37769C>A	2.37:g.179498394G>T	ENSP00000465570:p.Pro12590His					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P5358H|TTN_ENST00000342992.6_Missense_Mutation_p.P11663H|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5291H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P12590H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P5166H	p.P14231H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		232	42916	-			12590			Fibronectin type-III 3.		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.42692C>A		.	.	.	.	.	.	.	.	.	.	G	12.79	2.042078	0.35989	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93719	0.7993	H	0.96662	3.86	0.53005	D	0.999967	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	D	0.95220	0.8333	9	0.87932	D	0	.	19.9346	0.97133	0.0:0.0:1.0:0.0	.	5166;5291;5358;12590	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	11663;5166;5358;5291;5166	ENSP00000343764:P11663H;ENSP00000434586:P5166H;ENSP00000340554:P5358H;ENSP00000352154:P5291H	ENSP00000340554:P5358H	P	-	2	0	TTN	179206639	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.807000	0.99171	2.712000	0.92718	0.563000	0.77884	CCC		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	22	1	0	6.31663e-08	1	6.87114e-08	16	22				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	67	0	0	0	1	0	3	67				
ENTHD2	146705	broad.mit.edu	37	17	79203022	79203022	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:79203022G>A	ENST00000300714.3	-	12	1341	c.1284C>T	c.(1282-1284)ccC>ccT	p.P428P	AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.P344P|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	428	Pro-rich.					cytoplasmic vesicle (GO:0031410)											TGGGGTCTCCGGGGGCTGGAA	0.692																																						ENST00000374769.2																			0											c.(1030-1032)ccC>ccT		ENTH domain containing 2							9.0	10.0	9.0					17																	79203022		2187	4249	6436	SO:0001819	synonymous_variant	146705							g.chr17:79203022G>A	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1284C>T	17.37:g.79203022G>A						AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Silent_p.P428P	p.P344P							13	1509	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.1032C>T	CCDS11779.1																																																																																				0.692	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		3	14	0	0	0	1	0	3	14				
SLCO4C1	353189	broad.mit.edu	37	5	101599463	101599463	+	Missense_Mutation	SNP	A	A	G	rs370687578		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:101599463A>G	ENST00000310954.6	-	4	1110	c.824T>C	c.(823-825)aTc>aCc	p.I275T		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGGGCCTAAGATTGACATAGC	0.368																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(823-825)aTc>aCc		solute carrier organic anion transporter family, member 4C1		A	THR/ILE	0,4406		0,0,2203	142.0	134.0	137.0		824	5.0	0.1	5		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLCO4C1	NM_180991.4	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	275/725	101599463	1,13005	2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101599463A>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.824T>C	5.37:g.101599463A>G	ENSP00000309741:p.Ile275Thr						p.I275T	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	4	1110	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	275						Missense_Mutation	SNP	ENST00000310954.6	37	c.824T>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500663	0.26861	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.40476	1.03	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.254132	0.33023	N	0.005363	T	0.37892	0.1020	L	0.47078	1.49	0.09310	N	1	B	0.15141	0.012	B	0.19666	0.026	T	0.18461	-1.0336	10	0.25106	T	0.35	.	15.0557	0.71912	1.0:0.0:0.0:0.0	.	275	Q6ZQN7	SO4C1_HUMAN	T	275	ENSP00000309741:I275T	ENSP00000309741:I275T	I	-	2	0	SLCO4C1	101627362	0.994000	0.37717	0.117000	0.21633	0.738000	0.42128	6.423000	0.73361	2.013000	0.59113	0.528000	0.53228	ATC		0.368	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		22	94	0	0	0	1	0	22	94				
DHX35	60625	broad.mit.edu	37	20	37612351	37612351	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:37612351G>A	ENST00000252011.3	+	4	310	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	DHX35_ENST00000373325.2_Missense_Mutation_p.E93K|DHX35_ENST00000373323.4_Missense_Mutation_p.E62K	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	93	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GTACCTTGCAGAAGCCGGCTG	0.438																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(277-279)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 35							143.0	142.0	143.0					20																	37612351		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37612351G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.277G>A	20.37:g.37612351G>A	ENSP00000252011:p.Glu93Lys					DHX35_ENST00000373325.2_Missense_Mutation_p.E93K|DHX35_ENST00000373323.4_Missense_Mutation_p.E62K	p.E93K	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			4	310	+		Myeloproliferative disorder(115;0.00878)	93			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.277G>A	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873101	0.91664	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.28454	1.61;1.61;4.08;4.08	5.5	5.5	0.81552	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.048705	0.85682	N	0.000000	T	0.59459	0.2195	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.62426	-0.6857	10	0.87932	D	0	.	18.5277	0.90978	0.0:0.0:1.0:0.0	.	62;93	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	K	93;93;62;58	ENSP00000362422:E93K;ENSP00000252011:E93K;ENSP00000362420:E62K;ENSP00000414630:E58K	ENSP00000252011:E93K	E	+	1	0	DHX35	37045765	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	8.346000	0.90060	2.743000	0.94032	0.650000	0.86243	GAA		0.438	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		5	33	0	0	0	1	0	5	33				
ZNF521	25925	broad.mit.edu	37	18	22804911	22804911	+	Missense_Mutation	SNP	G	G	A	rs201558258		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:22804911G>A	ENST00000361524.3	-	4	3119	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R991W|ZNF521_ENST00000584787.1_Missense_Mutation_p.R771W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	991					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGCAAATCCGGCAGTTTCCA	0.478			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2971-2973)Cgg>Tgg		zinc finger protein 521							62.0	62.0	62.0					18																	22804911		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804911G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2971C>T	18.37:g.22804911G>A	ENSP00000354794:p.Arg991Trp					ZNF521_ENST00000538137.2_Missense_Mutation_p.R991W|ZNF521_ENST00000584787.1_Missense_Mutation_p.R771W	p.R991W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3119	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		991					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2971C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	9.809	1.182607	0.21870	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09911	2.93;2.94	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	N	0.24115	0.695	0.41529	D	0.988443	D	0.89917	1.0	D	0.91635	0.999	T	0.00867	-1.1534	10	0.72032	D	0.01	-27.8397	13.3218	0.60436	0.0:0.0:0.7408:0.2592	.	991	Q96K83	ZN521_HUMAN	W	991;1025;991	ENSP00000354794:R991W;ENSP00000382352:R991W	ENSP00000354794:R991W	R	-	1	2	ZNF521	21058909	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.757000	0.62213	2.828000	0.97474	0.655000	0.94253	CGG		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		18	39	0	0	0	1	0	18	39				
ZNF33B	7582	broad.mit.edu	37	10	43127444	43127444	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:43127444G>C	ENST00000359467.3	-	4	297	c.183C>G	c.(181-183)atC>atG	p.I61M	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCAGCCTGAAGATCACCTCTG	0.453																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(181-183)atC>atG		zinc finger protein 33B							234.0	228.0	230.0					10																	43127444		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43127444G>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.183C>G	10.37:g.43127444G>C	ENSP00000352444:p.Ile61Met					ZNF33B_ENST00000486187.1_RNA	p.I61M	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			4	297	-			61			KRAB.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.183C>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715240	0.68844	.	.	ENSG00000196693	ENST00000359467	T	0.51071	0.72	1.58	1.58	0.23477	Krueppel-associated box (3);	.	.	.	.	T	0.71508	0.3348	M	0.93507	3.425	0.23260	N	0.998026	D;D	0.65815	0.985;0.995	P;D	0.75484	0.798;0.986	T	0.56842	-0.7912	9	0.62326	D	0.03	.	6.6631	0.23024	0.0:0.0:1.0:0.0	.	61;61	Q3B799;Q06732	.;ZN33B_HUMAN	M	61	ENSP00000352444:I61M	ENSP00000352444:I61M	I	-	3	3	ZNF33B	42447450	0.977000	0.34250	0.999000	0.59377	0.977000	0.68977	0.302000	0.19192	1.193000	0.43086	0.531000	0.56144	ATC		0.453	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		43	247	0	0	0	1	0	43	247				
CNTD1	124817	broad.mit.edu	37	17	40958810	40958810	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:40958810G>A	ENST00000588408.1	+	5	975	c.699G>A	c.(697-699)gaG>gaA	p.E233E	CNTD1_ENST00000588527.1_Silent_p.E150E|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	233										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAATTGAGAACTCCACTC	0.522																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(697-699)gaG>gaA		cyclin N-terminal domain containing 1							99.0	87.0	91.0					17																	40958810		2203	4300	6503	SO:0001819	synonymous_variant	124817							g.chr17:40958810G>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.699G>A	17.37:g.40958810G>A						CNTD1_ENST00000588527.1_Silent_p.E150E|CNTD1_ENST00000315066.5_3'UTR	p.E233E	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	5	975	+		Breast(137;0.00104)	233					Q658Q6|Q8NEP1	Silent	SNP	ENST00000588408.1	37	c.699G>A	CCDS11440.1																																																																																				0.522	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		42	36	0	0	0	1	0	42	36				
EPS8L1	54869	broad.mit.edu	37	19	55594831	55594831	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:55594831C>T	ENST00000201647.6	+	13	1356	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	EPS8L1_ENST00000540810.1_Missense_Mutation_p.R370C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R416C|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R307C|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R88C	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	434					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCGCAGAGCCGCGCCTGGGA	0.697																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1300-1302)Cgc>Tgc		EPS8-like 1							10.0	13.0	12.0					19																	55594831		2111	4182	6293	SO:0001583	missense	54869					cytoplasm		g.chr19:55594831C>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1300C>T	19.37:g.55594831C>T	ENSP00000201647:p.Arg434Cys					EPS8L1_ENST00000245618.5_Missense_Mutation_p.R307C|EPS8L1_ENST00000540810.1_Missense_Mutation_p.R370C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R416C|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R88C|EPS8L1_ENST00000592824.1_3'UTR	p.R434C	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	13	1356	+			434					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1300C>T	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459466	0.43736	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.06371	3.56;3.32;3.31	3.21	3.21	0.36854	.	0.603701	0.16159	N	0.226821	T	0.19046	0.0457	M	0.64997	1.995	0.52099	D	0.999946	D;D;D;D;D	0.89917	0.993;1.0;0.999;0.999;1.0	B;D;D;D;P	0.70227	0.348;0.968;0.94;0.945;0.854	T	0.00666	-1.1619	10	0.59425	D	0.04	-15.1869	10.2624	0.43434	0.0:1.0:0.0:0.0	.	370;416;181;307;434	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	C	416;434;370;307;88	ENSP00000201647:R434C;ENSP00000437541:R370C;ENSP00000245618:R307C	ENSP00000201647:R434C	R	+	1	0	EPS8L1	60286643	1.000000	0.71417	0.964000	0.40570	0.062000	0.15995	2.838000	0.48199	1.522000	0.49001	0.561000	0.74099	CGC		0.697	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		27	33	0	0	0	1	0	27	33				
PCDHGA6	56109	broad.mit.edu	37	5	140754227	140754227	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:140754227G>C	ENST00000517434.1	+	1	577	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTACCCGGAGCTGGTGCT	0.592																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(577-579)Gag>Cag									19.0	21.0	20.0					5																	140754227		1995	4168	6163	SO:0001583	missense	56109							g.chr5:140754227G>C	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.577G>C	5.37:g.140754227G>C	ENSP00000429601:p.Glu193Gln					PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.E193Q	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	577	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.577G>C	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.250679	0.80135	.	.	ENSG00000253731	ENST00000517434	T	0.21932	1.98	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.31102	U	0.008241	T	0.52370	0.1730	M	0.86420	2.815	0.33165	D	0.547551	D;D	0.65815	0.992;0.995	D;D	0.64687	0.928;0.919	T	0.66412	-0.5930	10	0.72032	D	0.01	.	18.9705	0.92713	0.0:0.0:1.0:0.0	.	193;193	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	Q	193	ENSP00000429601:E193Q	ENSP00000429601:E193Q	E	+	1	0	PCDHGA6	140734411	1.000000	0.71417	0.974000	0.42286	0.930000	0.56654	9.259000	0.95561	2.871000	0.98454	0.655000	0.94253	GAG		0.592	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		3	20	0	0	0	1	0	3	20				
CEP192	55125	broad.mit.edu	37	18	13055883	13055883	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:13055883T>C	ENST00000325971.8	+	17	3099	c.1506T>C	c.(1504-1506)aaT>aaC	p.N502N	CEP192_ENST00000430049.2_Silent_p.N623N|CEP192_ENST00000506447.1_Silent_p.N1098N			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	502					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATTTCAGAATAGAGGAAAAG	0.383																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3292-3294)aaT>aaC		centrosomal protein 192kDa							58.0	58.0	58.0					18																	13055883		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13055883T>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1506T>C	18.37:g.13055883T>C						CEP192_ENST00000325971.8_Silent_p.N502N|CEP192_ENST00000430049.2_Silent_p.N623N	p.N1098N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3374	+			693					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.3294T>C																																																																																					0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		9	67	0	0	0	1	0	9	67				
MRPS35	60488	broad.mit.edu	37	12	27863859	27863859	+	Missense_Mutation	SNP	C	C	G	rs140355712	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:27863859C>G	ENST00000081029.3	+	1	154	c.83C>G	c.(82-84)tCg>tGg	p.S28W	RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.7_ENST00000538640.1_lincRNA|MRPS35_ENST00000538315.1_Missense_Mutation_p.S28W	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GCCGTCTACTCGGCCACTCCG	0.642																																						ENST00000081029.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(82-84)tCg>tGg		mitochondrial ribosomal protein S35		C	TRP/SER,TRP/SER	2,4404	4.2+/-10.8	0,2,2201	61.0	49.0	53.0		83,83	4.1	0.0	12	dbSNP_134	53	0,8600		0,0,4300	no	missense,missense	MRPS35	NM_001190864.1,NM_021821.3	177,177	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	28/195,28/324	27863859	2,13004	2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27863859C>G	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.83C>G	12.37:g.27863859C>G	ENSP00000081029:p.Ser28Trp					MRPS35_ENST00000538315.1_Missense_Mutation_p.S28W	p.S28W	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			1	154	+	Lung SC(9;0.0873)		28					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.83C>G	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	8.222	0.802722	0.16397	4.54E-4	0.0	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315;ENST00000542791	T;T;T	0.57273	0.89;0.86;0.41	4.97	4.07	0.47477	.	0.663619	0.15294	N	0.270030	T	0.39358	0.1075	N	0.22421	0.69	0.09310	N	1	P;P	0.42010	0.69;0.768	B;B	0.40410	0.328;0.24	T	0.23940	-1.0174	10	0.66056	D	0.02	-8.8901	9.5016	0.39022	0.0:0.9038:0.0:0.0962	.	28;28	P82673-2;P82673	.;RT35_HUMAN	W	28;28;28;27	ENSP00000081029:S28W;ENSP00000445390:S28W;ENSP00000437991:S27W	ENSP00000081029:S28W	S	+	2	0	MRPS35	27755126	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.148000	0.16224	1.301000	0.44836	0.655000	0.94253	TCG		0.642	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		5	66	0	0	0	1	0	5	66				
TRPC6	7225	broad.mit.edu	37	11	101347265	101347265	+	Splice_Site	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:101347265C>T	ENST00000344327.3	-	6	1935	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	TRPC6_ENST00000348423.4_Splice_Site_p.G388D|TRPC6_ENST00000360497.4_Splice_Site_p.G449D|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	504					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCATATCATGCCTGCATCAGA	0.373																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.e6-1		transient receptor potential cation channel, subfamily C, member 6							51.0	50.0	51.0					11																	101347265		2203	4299	6502	SO:0001630	splice_region_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347265C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1511-1G>A	11.37:g.101347265C>T						TRPC6_ENST00000360497.4_Splice_Site_p.G449_splice|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Splice_Site_p.G388_splice	p.G504_splice	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	6	1935	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	504					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Splice_Site	SNP	ENST00000344327.3	37	c.1510_splice	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896105	0.91962	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;D;D	0.98550	-4.99;-4.99;-4.99	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99537	1.0962	10	0.87932	D	0	.	19.9963	0.97386	0.0:1.0:0.0:0.0	.	449;388;504	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	D	504;388;449	ENSP00000340913:G504D;ENSP00000343672:G388D;ENSP00000353687:G449D	ENSP00000340913:G504D	G	-	2	0	TRPC6	100852475	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.811000	0.86092	2.725000	0.93324	0.643000	0.83706	GGC		0.373	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	Missense_Mutation	10	49	0	0	0	1	0	10	49				
STRN4	29888	broad.mit.edu	37	19	47231984	47231984	+	Silent	SNP	G	G	A	rs138551240		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:47231984G>A	ENST00000263280.6	-	7	979	c.930C>T	c.(928-930)gaC>gaT	p.D310D	STRN4_ENST00000539396.1_Silent_p.D191D|STRN4_ENST00000391910.3_Silent_p.D310D|STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	310						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCAGAGTCGTCTTCCTCAT	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.0					ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(928-930)gaC>gaT		striatin, calmodulin binding protein 4		G	,	7,4399	12.9+/-30.5	0,7,2196	108.0	102.0	104.0		930,930	-9.3	0.8	19	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	,	310/761,310/754	47231984	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47231984G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.930C>T	19.37:g.47231984G>A						STRN4_ENST00000539396.1_Silent_p.D191D|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000263280.6_Silent_p.D310D	p.D310D			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1380	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	310					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.930C>T	CCDS12690.1																																																																																				0.587	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			18	104	0	0	0	1	0	18	104				
RORA	6095	broad.mit.edu	37	15	60849056	60849056	+	Intron	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:60849056C>T	ENST00000335670.6	-	3	297				RORA_ENST00000309157.4_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000449337.2_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.M97I	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCTCACCATTCATGTATCCAG	0.428																																						ENST00000261523.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(289-291)atG>atA		RAR-related orphan receptor A							318.0	270.0	287.0					15																	60849056		2203	4300	6503	SO:0001627	intron_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60849056C>T	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.197-25006G>A	15.37:g.60849056C>T						RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000309157.4_Intron|RP11-219B17.1_ENST00000558235.1_RNA	p.M97I	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN			3	379	-			97			Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.291G>A	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	C	0.374	-0.932392	0.02359	.	.	ENSG00000069667	ENST00000261523	D	0.94138	-3.36	4.38	1.38	0.22167	.	1.956330	0.01759	N	0.030466	D	0.83686	0.5308	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.74973	-0.3481	10	0.13108	T	0.6	.	3.9536	0.09380	0.0:0.5637:0.2125:0.2237	.	97	P35398	RORA_HUMAN	I	97	ENSP00000261523:M97I	ENSP00000261523:M97I	M	-	3	0	RORA	58636348	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.282000	0.08445	0.556000	0.29098	-0.140000	0.14226	ATG		0.428	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			13	100	0	0	0	1	0	13	100				
COL22A1	169044	broad.mit.edu	37	8	139788209	139788209	+	Splice_Site	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:139788209C>A	ENST00000303045.6	-	16	2249	c.1803G>T	c.(1801-1803)aaG>aaT	p.K601N	COL22A1_ENST00000435777.1_Splice_Site_p.K601N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	601	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTATAAATACCTTTTCTCCTC	0.478										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.e16+1		collagen, type XXII, alpha 1							319.0	270.0	287.0					8																	139788209		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139788209C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1803+1G>T	8.37:g.139788209C>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Splice_Site_p.K601_splice	p.K601_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		16	2249	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		601			Collagen-like 3.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.1803_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860856	0.71834	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.95885	-3.84;-3.84	4.41	4.41	0.53225	.	0.117195	0.37483	N	0.002065	D	0.97300	0.9117	M	0.81112	2.525	0.39302	D	0.964921	D	0.76494	0.999	D	0.85130	0.997	D	0.97271	0.9911	9	.	.	.	.	12.8234	0.57707	0.0:1.0:0.0:0.0	.	601	Q8NFW1	COMA1_HUMAN	N	601	ENSP00000303153:K601N;ENSP00000387655:K601N	.	K	-	3	2	COL22A1	139857391	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.472000	0.53114	2.748000	0.94277	0.655000	0.94253	AAG		0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	11	159	1	0	5.50884e-06	1	5.85828e-06	11	159				
ITGB1	3688	broad.mit.edu	37	10	33200431	33200431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:33200431G>A	ENST00000396033.2	-	13	2011	c.1876C>T	c.(1876-1878)Caa>Taa	p.Q626*	ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Q626*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	626	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GTTTGCCCTTGAAACTTCGGA	0.463																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1876-1878)Caa>Taa		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							116.0	108.0	110.0					10																	33200431		2203	4297	6500	SO:0001587	stop_gained	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200431G>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1876C>T	10.37:g.33200431G>A	ENSP00000379350:p.Gln626*					ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Q626*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Q626*	p.Q626*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			13	2011	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	626			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Nonsense_Mutation	SNP	ENST00000396033.2	37	c.1876C>T	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	38	7.186974	0.98121	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	.	.	.	X	626	.	ENSP00000303351:Q626X	Q	-	1	0	ITGB1	33240437	1.000000	0.71417	0.823000	0.32752	0.608000	0.37181	9.684000	0.98659	2.809000	0.96659	0.655000	0.94253	CAA		0.463	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		24	125	0	0	0	1	0	24	125				
UNKL	64718	broad.mit.edu	37	16	1453317	1453317	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:1453317C>T	ENST00000389221.4	-	3	315	c.316G>A	c.(316-318)Gac>Aac	p.D106N	UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000397462.1_Missense_Mutation_p.D193N|UNKL_ENST00000301712.5_Missense_Mutation_p.D106N|UNKL_ENST00000508903.2_Missense_Mutation_p.D106N	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	106					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CGTTCTGTGTCCCCCGTCGTC	0.602																																						ENST00000389221.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(316-318)Gac>Aac		unkempt family zinc finger-like							226.0	156.0	179.0					16																	1453317		2198	4300	6498	SO:0001583	missense	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1453317C>T	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.316G>A	16.37:g.1453317C>T	ENSP00000373873:p.Asp106Asn					UNKL_ENST00000397462.1_Missense_Mutation_p.D193N|UNKL_ENST00000508903.2_Missense_Mutation_p.D106N|UNKL_ENST00000301712.5_Missense_Mutation_p.D106N|UNKL_ENST00000503648.1_5'UTR	p.D106N	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN			3	315	-		Hepatocellular(780;0.0893)	106					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	c.316G>A	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728581	0.69074	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	D	0.83419	-1.72	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	D	0.91050	0.7184	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92372	0.5906	10	0.72032	D	0.01	.	13.5415	0.61676	0.0:1.0:0.0:0.0	.	106	Q9H9P5-5	.	N	106;106;193;106	ENSP00000373873:D106N	ENSP00000301712:D106N	D	-	1	0	UNKL	1393318	1.000000	0.71417	0.976000	0.42696	0.290000	0.27261	7.286000	0.78671	2.114000	0.64651	0.456000	0.33151	GAC		0.602	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		7	52	0	0	0	1	0	7	52				
WDR92	116143	broad.mit.edu	37	2	68361919	68361919	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:68361919T>C	ENST00000295121.6	-	7	897	c.781A>G	c.(781-783)Act>Gct	p.T261A	WDR92_ENST00000409164.1_Missense_Mutation_p.T261A|WDR92_ENST00000406245.2_Missense_Mutation_p.T160A|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	261					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TGCCACACAGTAGATTTATGA	0.488																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.(781-783)Act>Gct		WD repeat domain 92							33.0	38.0	36.0					2																	68361919		2203	4299	6502	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68361919T>C	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.781A>G	2.37:g.68361919T>C	ENSP00000295121:p.Thr261Ala					WDR92_ENST00000406245.2_Missense_Mutation_p.T160A|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.T261A	p.T261A	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			7	897	-			261					Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.781A>G	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637452	0.87760	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	D;T;T	0.89123	-2.47;1.66;-0.11	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.298244	0.39146	N	0.001456	D	0.90528	0.7032	M	0.89785	3.06	0.80722	D	1	P	0.45240	0.854	B	0.38500	0.275	D	0.92098	0.5686	10	0.66056	D	0.02	.	14.4531	0.67399	0.0:0.0:0.0:1.0	.	261	Q96MX6	WDR92_HUMAN	A	261;160;261	ENSP00000295121:T261A;ENSP00000384518:T160A;ENSP00000386746:T261A	ENSP00000295121:T261A	T	-	1	0	WDR92	68215423	1.000000	0.71417	0.118000	0.21660	0.770000	0.43624	8.040000	0.89188	2.155000	0.67459	0.533000	0.62120	ACT		0.488	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		18	61	0	0	0	1	0	18	61				
SCN7A	6332	broad.mit.edu	37	2	167313566	167313566	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:167313566C>T	ENST00000409855.1	-	10	1230	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	368					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCATGTAGACCTTCCCAGAAG	0.333																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1102-1104)aaG>aaA		sodium channel, voltage-gated, type VII, alpha subunit							63.0	55.0	57.0					2																	167313566		1809	4073	5882	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167313566C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1104G>A	2.37:g.167313566C>T							p.K368K	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			10	1230	-			368						Silent	SNP	ENST00000409855.1	37	c.1104G>A	CCDS46442.1																																																																																				0.333	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	30	0	0	0	1	0	6	30				
TNK2	10188	broad.mit.edu	37	3	195611811	195611811	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:195611811C>T	ENST00000333602.6	-	4	945	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	TNK2_ENST00000381916.2_Missense_Mutation_p.G173R|TNK2_ENST00000428187.1_Missense_Mutation_p.G142R|TNK2_ENST00000316664.3_Missense_Mutation_p.G110R|TNK2_ENST00000392400.1_Missense_Mutation_p.G110R|TNK2_ENST00000468819.1_5'UTR	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	110	SAM-like domain.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGCCCCTCCCCTGCTGGGCCC	0.647																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(328-330)Ggg>Agg		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						35.0	37.0	36.0					3																	195611811		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195611811C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.328G>A	3.37:g.195611811C>T	ENSP00000329425:p.Gly110Arg					TNK2_ENST00000381916.2_Missense_Mutation_p.G173R|TNK2_ENST00000392400.1_Missense_Mutation_p.G110R|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Missense_Mutation_p.G142R|TNK2_ENST00000316664.3_Missense_Mutation_p.G110R	p.G110R	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	4	945	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	110			SAM-like domain.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.328G>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009337	0.35415	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	T;T;T;T;T	0.74737	-0.82;-0.85;-0.84;-0.82;-0.87	4.92	4.05	0.47172	Protein kinase-like domain (1);	0.417057	0.24472	N	0.038238	T	0.48732	0.1516	N	0.14661	0.345	0.20703	N	0.999863	B;B;P;B	0.36282	0.279;0.059;0.546;0.002	B;B;B;B	0.28991	0.055;0.007;0.097;0.005	T	0.35450	-0.9788	10	0.11794	T	0.64	.	8.048	0.30562	0.0:0.7528:0.16:0.0871	.	110;110;173;142	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	R	110;173;142;110;110	ENSP00000329425:G110R;ENSP00000371341:G173R;ENSP00000392546:G142R;ENSP00000376201:G110R;ENSP00000323216:G110R	ENSP00000323216:G110R	G	-	1	0	TNK2	197096208	0.062000	0.20869	0.107000	0.21349	0.921000	0.55340	0.374000	0.20501	1.208000	0.43306	0.407000	0.27541	GGG		0.647	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		7	103	0	0	0	1	0	7	103				
COL19A1	1310	broad.mit.edu	37	6	70812083	70812083	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:70812083C>A	ENST00000322773.4	+	16	1349	c.1247C>A	c.(1246-1248)cCt>cAt	p.P416H	COL19A1_ENST00000393344.1_Missense_Mutation_p.P38H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	416	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAACAGGACCTCCCGGAAAA	0.383																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1246-1248)cCt>cAt		collagen, type XIX, alpha 1							102.0	107.0	106.0					6																	70812083		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70812083C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1247C>A	6.37:g.70812083C>A	ENSP00000316030:p.Pro416His					COL19A1_ENST00000393344.1_Missense_Mutation_p.P38H	p.P416H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			16	1349	+			416			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1247C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652820	0.29336	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.94457	-3.37;-3.43	5.09	5.09	0.68999	.	0.571114	0.17771	N	0.162583	D	0.95319	0.8481	M	0.76838	2.35	0.31312	N	0.687041	D	0.67145	0.996	P	0.62649	0.905	D	0.92798	0.6254	10	0.45353	T	0.12	.	10.9815	0.47497	0.0:0.9055:0.0:0.0945	.	416	Q14993	COJA1_HUMAN	H	416;38	ENSP00000316030:P416H;ENSP00000377013:P38H	ENSP00000316030:P416H	P	+	2	0	COL19A1	70868804	0.697000	0.27767	1.000000	0.80357	0.963000	0.63663	2.090000	0.41682	2.541000	0.85698	0.561000	0.74099	CCT		0.383	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			12	101	1	0	0.00185496	1	0.00188136	12	101				
FLG	2312	broad.mit.edu	37	1	152283696	152283696	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:152283696C>T	ENST00000368799.1	-	3	3701	c.3666G>A	c.(3664-3666)aaG>aaA	p.K1222K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1222	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTGTCCTTACGAGTTT	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3664-3666)aaG>aaA		filaggrin							353.0	344.0	347.0					1																	152283696		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283696C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3666G>A	1.37:g.152283696C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.K1222K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3701	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1222			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3666G>A	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		217	308	0	0	0	1	0	217	308				
BMPR1B	658	broad.mit.edu	37	4	96035912	96035912	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:96035912C>G	ENST00000515059.1	+	5	468	c.185C>G	c.(184-186)tCt>tGt	p.S62C	BMPR1B_ENST00000264568.4_Missense_Mutation_p.S62C|BMPR1B_ENST00000502683.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S92C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	62					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAGGATGACTCTGGGTTGCCT	0.443																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(184-186)tCt>tGt		bone morphogenetic protein receptor, type IB							344.0	311.0	322.0					4																	96035912		2203	4300	6503	SO:0001583	missense	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96035912C>G	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.185C>G	4.37:g.96035912C>G	ENSP00000426617:p.Ser62Cys					BMPR1B_ENST00000394931.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S92C|BMPR1B_ENST00000502683.1_Missense_Mutation_p.S62C|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S62C	p.S62C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	5	468	+		Hepatocellular(203;0.114)	62					B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	c.185C>G	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131216	0.37630	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.82	4.98	0.66077	TGF-beta receptor/activin receptor, type I/II (1);	0.238290	0.44097	D	0.000487	D	0.92996	0.7771	M	0.62723	1.935	0.41310	D	0.987105	B	0.29909	0.261	P	0.49637	0.617	D	0.92764	0.6226	10	0.72032	D	0.01	.	10.9803	0.47490	0.131:0.8024:0.0:0.0666	.	62	O00238	BMR1B_HUMAN	C	62;62;62;62;92;62;62;62	ENSP00000426617:S62C;ENSP00000421144:S62C;ENSP00000425444:S62C;ENSP00000421671:S62C;ENSP00000401907:S92C;ENSP00000424693:S62C;ENSP00000264568:S62C;ENSP00000378389:S62C	ENSP00000264568:S62C	S	+	2	0	BMPR1B	96254935	0.998000	0.40836	0.986000	0.45419	0.013000	0.08279	2.782000	0.47758	1.608000	0.50180	-0.182000	0.12963	TCT		0.443	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		74	225	0	0	0	1	0	74	225				
PTPRZ1	5803	broad.mit.edu	37	7	121651100	121651100	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:121651100G>A	ENST00000393386.2	+	12	2411	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G667E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	667					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCGATGTTGGATCAGGCAGA	0.448																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1999-2001)gGa>gAa		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							72.0	63.0	66.0					7																	121651100		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651100G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2000G>A	7.37:g.121651100G>A	ENSP00000377047:p.Gly667Glu					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G667E	p.G667E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2411	+			667					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2000G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335730	0.24253	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.44881	0.98;0.91	5.87	1.86	0.25419	.	0.555381	0.18310	N	0.145140	T	0.50446	0.1616	M	0.63428	1.95	0.09310	N	1	B;B;D	0.59767	0.006;0.008;0.986	B;B;P	0.53266	0.003;0.003;0.722	T	0.46721	-0.9171	10	0.72032	D	0.01	.	12.1096	0.53831	0.0803:0.6223:0.2974:0.0	.	667;667;667	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	E	667	ENSP00000377047:G667E;ENSP00000410000:G667E	ENSP00000377047:G667E	G	+	2	0	PTPRZ1	121438336	0.078000	0.21339	0.017000	0.16124	0.917000	0.54804	1.569000	0.36428	0.366000	0.24427	0.655000	0.94253	GGA		0.448	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		11	92	0	0	0	1	0	11	92				
CXXC4	80319	broad.mit.edu	37	4	105412166	105412166	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:105412166G>T	ENST00000426831.1	-	1	301	c.287C>A	c.(286-288)gCa>gAa	p.A96E	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.A265E			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	96					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGTGACGGCTGCTGAGGCTGC	0.607																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(793-795)gCa>gAa		CXXC finger protein 4							68.0	75.0	72.0					4																	105412166		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412166G>T		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.287C>A	4.37:g.105412166G>T	ENSP00000412267:p.Ala96Glu					AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.A96E|CXXC4_ENST00000466963.1_Intron	p.A265E	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1244	-			96						Missense_Mutation	SNP	ENST00000426831.1	37	c.794C>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.259823	0.80246	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.56	4.56	0.56223	.	1.621570	0.08080	U	1.000000	T	0.56031	0.1958	N	0.08118	0	0.54753	D	0.999988	D	0.63880	0.993	D	0.70227	0.968	T	0.55761	-0.8090	9	0.41790	T	0.15	-5.5144	15.4735	0.75458	0.0:0.0:1.0:0.0	.	96	Q9H2H0	CXXC4_HUMAN	E	96	.	ENSP00000378248:A96E	A	-	2	0	CXXC4	105631615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.711000	0.91396	2.245000	0.73994	0.484000	0.47621	GCA		0.607	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		13	96	1	0	7.93312e-07	1	8.53185e-07	13	96				
STEAP2-AS1	100874100	broad.mit.edu	37	7	89749044	89749044	+	RNA	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:89749044T>A	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		TCGAAAAGGCTTGGAGCTAAA	0.622																																						ENST00000478318.2																			0																																																			100874100							g.chr7:89749044T>A			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89749044T>A						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	SNP	ENST00000478318.2	37																																																																																						0.622	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			6	28	0	0	0	1	0	6	28				
AKAP11	11215	broad.mit.edu	37	13	42877787	42877787	+	Silent	SNP	C	C	T	rs138261350		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr13:42877787C>T	ENST00000025301.2	+	8	5080	c.4905C>T	c.(4903-4905)ctC>ctT	p.L1635L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1635					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTTTTCATCTCAGTGTCCCTC	0.433																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4903-4905)ctC>ctT		A kinase (PRKA) anchor protein 11							70.0	74.0	73.0					13																	42877787		2203	4300	6503	SO:0001819	synonymous_variant	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877787C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4905C>T	13.37:g.42877787C>T							p.L1635L	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	5080	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1635					O75124|Q9NUK7	Silent	SNP	ENST00000025301.2	37	c.4905C>T	CCDS9383.1																																																																																				0.433	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		15	78	0	0	0	1	0	15	78				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	96	0	0	0	1	0	4	96				
NPC1L1	29881	broad.mit.edu	37	7	44578793	44578793	+	Silent	SNP	G	G	A	rs543996709		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:44578793G>A	ENST00000289547.4	-	2	1258	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	NPC1L1_ENST00000381160.3_Silent_p.F401F|NPC1L1_ENST00000546276.1_Silent_p.F401F|NPC1L1_ENST00000423141.1_Silent_p.F401F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	401					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGAAGGGGCCGAAATGCTGGT	0.592													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18029	0.0		0.0	False		,,,				2504	0.0					ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1201-1203)ttC>ttT		NPC1-like 1	Ezetimibe(DB00973)						90.0	102.0	98.0					7																	44578793		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578793G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1203C>T	7.37:g.44578793G>A						NPC1L1_ENST00000423141.1_Silent_p.F401F|NPC1L1_ENST00000546276.1_Silent_p.F401F|NPC1L1_ENST00000381160.3_Silent_p.F401F	p.F401F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	1258	-			401					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1203C>T	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	196	0	0	0	1	0	4	196				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	93	0	0	0	1	0	4	93				
TTC16	158248	broad.mit.edu	37	9	130487069	130487069	+	Silent	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:130487069C>G	ENST00000373289.3	+	9	1232	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A	TTC16_ENST00000393748.4_3'UTR|PTRH1_ENST00000429848.1_5'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	384										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGGCCTTTGCCGAGGCGGACT	0.687																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1150-1152)gcC>gcG		tetratricopeptide repeat domain 16							14.0	14.0	14.0					9																	130487069		2196	4285	6481	SO:0001819	synonymous_variant	158248						binding	g.chr9:130487069C>G	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1152C>G	9.37:g.130487069C>G						TTC16_ENST00000393748.4_3'UTR|PTRH1_ENST00000429848.1_5'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR	p.A384A	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			9	1232	+			384					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.1152C>G	CCDS6875.1																																																																																				0.687	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		4	18	0	0	0	1	0	4	18				
FOXK2	3607	broad.mit.edu	37	17	80477919	80477919	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80477919G>A	ENST00000335255.5	+	1	329	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	52	Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ATGAAGAAGCGCTCGGTGACC	0.741																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(154-156)cGc>cAc		forkhead box K2							29.0	33.0	31.0					17																	80477919		2185	4278	6463	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80477919G>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.155G>A	17.37:g.80477919G>A	ENSP00000335677:p.Arg52His						p.R52H	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		1	329	+	Breast(20;0.00106)|all_neural(118;0.0952)		52	AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).		Gly-rich.		A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.155G>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.164651	0.38217	.	.	ENSG00000141568	ENST00000335255;ENST00000335241	T	0.36340	1.26	3.51	1.49	0.22878	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.64402	U	0.000003	T	0.18841	0.0452	N	0.19112	0.55	0.38627	D	0.95127	B;B;B	0.33135	0.103;0.399;0.383	B;B;B	0.31495	0.022;0.042;0.131	T	0.10064	-1.0646	10	0.15499	T	0.54	.	9.0666	0.36467	0.1873:0.0:0.8127:0.0	.	52;52;52	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	H	52	ENSP00000335677:R52H	ENSP00000334321:R52H	R	+	2	0	FOXK2	78071208	1.000000	0.71417	0.989000	0.46669	0.562000	0.35680	3.897000	0.56273	0.215000	0.20761	-0.291000	0.09656	CGC		0.741	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		37	52	0	0	0	1	0	37	52				
PHACTR2	9749	broad.mit.edu	37	6	144086875	144086875	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:144086875C>T	ENST00000427704.2	+	6	1269	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	PHACTR2_ENST00000367582.3_Missense_Mutation_p.T311M|PHACTR2_ENST00000305766.6_Missense_Mutation_p.T300M|PHACTR2_ENST00000440869.2_Missense_Mutation_p.T391M|PHACTR2_ENST00000367584.4_Missense_Mutation_p.T368M	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	380							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAAGAGCCGACGAACAGAACC	0.493																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1138-1140)aCg>aTg		phosphatase and actin regulator 2							88.0	85.0	86.0					6																	144086875		1931	4135	6066	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086875C>T	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1139C>T	6.37:g.144086875C>T	ENSP00000391763:p.Thr380Met					PHACTR2_ENST00000440869.2_Missense_Mutation_p.T391M|PHACTR2_ENST00000367582.3_Missense_Mutation_p.T311M|PHACTR2_ENST00000305766.6_Missense_Mutation_p.T300M|PHACTR2_ENST00000367584.4_Missense_Mutation_p.T368M	p.T380M	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1269	+			380					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1139C>T	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	7.059	0.566055	0.13560	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.32988	1.43;1.86;1.46;1.86;1.46	5.22	3.45	0.39498	.	1.057400	0.07363	N	0.884408	T	0.18467	0.0443	L	0.48642	1.525	0.09310	N	0.999999	P;P;B;P	0.50819	0.939;0.856;0.423;0.776	P;B;B;B	0.47015	0.534;0.437;0.316;0.253	T	0.22695	-1.0209	10	0.42905	T	0.14	.	11.2904	0.49247	0.129:0.8002:0.0:0.0708	.	391;300;311;380	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	M	368;380;300;391;311	ENSP00000356556:T368M;ENSP00000391763:T380M;ENSP00000305530:T300M;ENSP00000417038:T391M;ENSP00000356554:T311M	ENSP00000305530:T300M	T	+	2	0	PHACTR2	144128568	0.001000	0.12720	0.000000	0.03702	0.097000	0.18754	1.229000	0.32600	0.234000	0.21139	-1.966000	0.00469	ACG		0.493	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		9	92	0	0	0	1	0	9	92				
ZC3H6	376940	broad.mit.edu	37	2	113089497	113089497	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:113089497C>T	ENST00000409871.1	+	12	3403	c.3002C>T	c.(3001-3003)tCa>tTa	p.S1001L	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1001L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1001							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTACCCAGATCAAACCCTGGT	0.507																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3001-3003)tCa>tTa		zinc finger CCCH-type containing 6							45.0	44.0	44.0					2																	113089497		1906	4119	6025	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089497C>T	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3002C>T	2.37:g.113089497C>T	ENSP00000386764:p.Ser1001Leu					ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1001L	p.S1001L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3403	+			1001					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.3002C>T	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	4.981	0.182235	0.09495	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.14391	2.51;2.51	5.59	4.69	0.59074	.	0.723876	0.14205	N	0.334424	T	0.17238	0.0414	L	0.50333	1.59	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.11036	-1.0604	10	0.51188	T	0.08	-1.035	16.0603	0.80834	0.0:0.8611:0.1389:0.0	.	1001	P61129	ZC3H6_HUMAN	L	1001	ENSP00000386764:S1001L;ENSP00000340298:S1001L	ENSP00000340298:S1001L	S	+	2	0	ZC3H6	112805968	0.003000	0.15002	0.002000	0.10522	0.295000	0.27426	1.878000	0.39608	1.296000	0.44742	0.591000	0.81541	TCA		0.507	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		7	42	0	0	0	1	0	7	42				
USH2A	7399	broad.mit.edu	37	1	216595553	216595553	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:216595553G>A	ENST00000307340.3	-	2	512	c.126C>T	c.(124-126)aaC>aaT	p.N42N	USH2A_ENST00000366942.3_Silent_p.N42N|USH2A_ENST00000366943.2_Silent_p.N42N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	42					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGCTCCCACGTTCTCCAGCC	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(124-126)aaC>aaT		Usher syndrome 2A (autosomal recessive, mild)							86.0	90.0	89.0					1																	216595553		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595553G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.126C>T	1.37:g.216595553G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N42N|USH2A_ENST00000366942.3_Silent_p.N42N	p.N42N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	512	-			42					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.126C>T	CCDS31025.1																																																																																				0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	84	0	0	0	1	0	13	84				
NAAA	27163	broad.mit.edu	37	4	76861953	76861953	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:76861953G>A	ENST00000286733.4	-	1	251	c.150C>T	c.(148-150)ccC>ccT	p.P50P	NAAA_ENST00000399497.3_Silent_p.P50P|NAAA_ENST00000507956.1_Silent_p.P50P|NAAA_ENST00000507187.2_Silent_p.P50P|NAAA_ENST00000505594.1_5'Flank	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	50					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GCCGCAGCACGGGCAGCCAGC	0.736																																						ENST00000286733.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(148-150)ccC>ccT		N-acylethanolamine acid amidase							13.0	15.0	14.0					4																	76861953		1891	4023	5914	SO:0001819	synonymous_variant	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76861953G>A	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.150C>T	4.37:g.76861953G>A						NAAA_ENST00000507956.1_Silent_p.P50P|NAAA_ENST00000507187.2_Silent_p.P50P|NAAA_ENST00000399497.3_Silent_p.P50P	p.P50P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			1	251	-			50					Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	ENST00000286733.4	37	c.150C>T	CCDS43239.1																																																																																				0.736	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			3	41	0	0	0	1	0	3	41				
ZBTB1	22890	broad.mit.edu	37	14	64990072	64990072	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:64990072G>C	ENST00000554015.1	+	4	2281	c.1850G>C	c.(1849-1851)aGa>aCa	p.R617T	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000358738.3_Missense_Mutation_p.R617T|ZBTB1_ENST00000394712.2_Missense_Mutation_p.R617T			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	617					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAGTTTTTAAGAGAGCGTCAG	0.393																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(1849-1851)aGa>aCa		zinc finger and BTB domain containing 1							127.0	120.0	122.0					14																	64990072		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64990072G>C	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1850G>C	14.37:g.64990072G>C	ENSP00000451000:p.Arg617Thr					ZBTB1_ENST00000394712.2_Missense_Mutation_p.R617T|ZBTB1_ENST00000554015.1_Missense_Mutation_p.R617T|RP11-973N13.4_ENST00000554918.1_RNA	p.R617T	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	2241	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	617					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.1850G>C	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391992	0.62066	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.60424	0.19;0.19;0.19	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.625342	0.17120	N	0.186285	T	0.69762	0.3147	L	0.37697	1.125	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.81914	0.994;0.995	T	0.68819	-0.5308	10	0.48119	T	0.1	-23.1035	19.3379	0.94326	0.0:0.0:1.0:0.0	.	617;617	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	T	617	ENSP00000451000:R617T;ENSP00000351587:R617T;ENSP00000378201:R617T	ENSP00000351587:R617T	R	+	2	0	ZBTB1	64059825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.430000	0.97488	2.585000	0.87301	0.650000	0.86243	AGA		0.393	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			21	117	0	0	0	1	0	21	117				
NPC2	10577	broad.mit.edu	37	14	74951163	74951163	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:74951163G>A	ENST00000555619.1	-	3	555	c.318C>T	c.(316-318)acC>acT	p.T106T	NPC2_ENST00000434013.2_Silent_p.T106T|NPC2_ENST00000541064.1_Silent_p.T106T|NPC2_ENST00000557510.1_Silent_p.T106T|NPC2_ENST00000238633.2_Silent_p.T106T	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	106					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GGTAGCTATAGGTCTTGTCTT	0.468																																					Pancreas(93;260 1497 8575 30964 48133)	ENST00000541064.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7						c.(316-318)acC>acT		Niemann-Pick disease, type C2							204.0	189.0	194.0					14																	74951163		2203	4300	6503	SO:0001819	synonymous_variant	10577				cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding	g.chr14:74951163G>A	X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"""epididymal protein 1"""	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.318C>T	14.37:g.74951163G>A						NPC2_ENST00000434013.2_Silent_p.T106T|NPC2_ENST00000238633.2_Silent_p.T106T|NPC2_ENST00000557510.1_Silent_p.T106T|NPC2_ENST00000555619.1_Silent_p.T106T	p.T106T			P61916	NPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00149)	3	324	-			106					B4DQV7|Q15668|Q29413	Silent	SNP	ENST00000555619.1	37	c.318C>T	CCDS32121.1	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108918	0.20714	.	.	ENSG00000119655	ENST00000556009	.	.	.	6.17	2.26	0.28386	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26121	-1.0112	4	.	.	.	-4.8891	2.0851	0.03644	0.3179:0.1189:0.4412:0.1221	.	.	.	.	L	128	.	.	P	-	2	0	NPC2	74020916	1.000000	0.71417	0.933000	0.37362	0.997000	0.91878	1.893000	0.39758	0.464000	0.27142	0.655000	0.94253	CCT		0.468	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432		46	134	0	0	0	1	0	46	134				
IPO8	10526	broad.mit.edu	37	12	30833559	30833559	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:30833559C>T	ENST00000256079.4	-	5	834	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	166					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTCTCTCTTCTGCTTTCTTA	0.318																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(496-498)Gaa>Aaa		importin 8							107.0	111.0	110.0					12																	30833559		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30833559C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.496G>A	12.37:g.30833559C>T	ENSP00000256079:p.Glu166Lys						p.E166K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			5	834	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		166					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.496G>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844432	0.71488	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.17054	2.3;2.3	4.65	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.107097	0.64402	D	0.000007	T	0.19446	0.0467	L	0.56199	1.76	0.80722	D	1	B	0.32338	0.365	B	0.30401	0.115	T	0.03587	-1.1022	10	0.27785	T	0.31	-20.5289	18.0646	0.89387	0.0:1.0:0.0:0.0	.	166	O15397	IPO8_HUMAN	K	166;104	ENSP00000256079:E166K;ENSP00000440979:E104K	ENSP00000256079:E166K	E	-	1	0	IPO8	30724826	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.410000	0.80065	2.563000	0.86464	0.585000	0.79938	GAA		0.318	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		24	49	0	0	0	1	0	24	49				
RP1L1	94137	broad.mit.edu	37	8	10470809	10470809	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:10470809G>C	ENST00000382483.3	-	4	1022	c.799C>G	c.(799-801)Ccg>Gcg	p.P267A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	267					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGCCTGGCGGAGACCGCGAA	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(799-801)Ccg>Gcg		retinitis pigmentosa 1-like 1							52.0	58.0	56.0					8																	10470809		1992	4182	6174	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470809G>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.799C>G	8.37:g.10470809G>C	ENSP00000371923:p.Pro267Ala						p.P267A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1022	-			267					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.799C>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131783	0.06753	.	.	ENSG00000183638	ENST00000382483	T	0.03920	3.76	5.35	0.131	0.14755	.	0.911244	0.08928	U	0.873367	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.17098	0.017	T	0.47623	-0.9103	10	0.06891	T	0.86	-4.7184	5.9225	0.19091	0.0:0.5336:0.2357:0.2307	.	267	A6NKC6	.	A	267	ENSP00000371923:P267A	ENSP00000371923:P267A	P	-	1	0	RP1L1	10508219	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.381000	0.20619	0.025000	0.15241	-0.293000	0.09583	CCG		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			15	112	0	0	0	1	0	15	112				
BTBD8	284697	broad.mit.edu	37	1	92595302	92595302	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:92595302G>A	ENST00000342818.3	+	5	957	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	BTBD8_ENST00000540648.1_Missense_Mutation_p.E241K|BTBD8_ENST00000370382.3_Missense_Mutation_p.E241K	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	241	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)		p.E241K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTGTTGGGCTGAAAGCTCCCA	0.408																																						ENST00000370382.3																			1	Substitution - Missense(1)	p.E241K(1)	breast(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(721-723)Gaa>Aaa		BTB (POZ) domain containing 8							114.0	101.0	105.0					1																	92595302		2203	4300	6503	SO:0001583	missense	284697					nucleus		g.chr1:92595302G>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.721G>A	1.37:g.92595302G>A	ENSP00000343686:p.Glu241Lys					BTBD8_ENST00000342818.3_Missense_Mutation_p.E241K|BTBD8_ENST00000540648.1_Missense_Mutation_p.E241K	p.E241K			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	5	988	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	241			BTB 2.		Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.721G>A	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112128	0.94339	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.75154	-0.91;-0.91;-0.91	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000012	D	0.88273	0.6392	M	0.90922	3.16	0.42964	D	0.994412	D	0.89917	1.0	D	0.97110	1.0	D	0.90045	0.4145	10	0.87932	D	0	-17.531	17.9307	0.88996	0.0:0.0:1.0:0.0	.	241	Q5XKL5	BTBD8_HUMAN	K	241	ENSP00000359408:E241K;ENSP00000343686:E241K;ENSP00000443397:E241K	ENSP00000343686:E241K	E	+	1	0	BTBD8	92367890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.699000	0.74613	2.773000	0.95371	0.650000	0.86243	GAA		0.408	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		7	87	0	0	0	1	0	7	87				
KCNJ14	3770	broad.mit.edu	37	19	48965285	48965285	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:48965285C>G	ENST00000391884.1	+	1	780	c.304C>G	c.(304-306)Ctg>Gtg	p.L102V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L102V			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	102					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CGCCTCCTGGCTGCTCTTCGG	0.692																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(304-306)Ctg>Gtg		potassium inwardly-rectifying channel, subfamily J, member 14							61.0	34.0	43.0					19																	48965285		2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965285C>G	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.304C>G	19.37:g.48965285C>G	ENSP00000375756:p.Leu102Val					KCNJ14_ENST00000342291.2_Missense_Mutation_p.L102V	p.L102V			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	780	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	102						Missense_Mutation	SNP	ENST00000391884.1	37	c.304C>G	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869061	0.72065	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94966	-3.57;-3.57	4.45	2.27	0.28462	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.64402	D	0.000005	D	0.93874	0.8040	M	0.82433	2.59	0.48236	D	0.999617	B	0.23185	0.081	B	0.34242	0.178	D	0.90054	0.4151	10	0.54805	T	0.06	.	7.2484	0.26135	0.0:0.7268:0.1729:0.1003	.	102	Q9UNX9	IRK14_HUMAN	V	102	ENSP00000341479:L102V;ENSP00000375756:L102V	ENSP00000341479:L102V	L	+	1	2	KCNJ14	53657097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.281000	0.51685	0.417000	0.25871	0.591000	0.81541	CTG		0.692	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		6	34	0	0	0	1	0	6	34				
RTN1	6252	broad.mit.edu	37	14	60076839	60076839	+	Intron	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:60076839C>G	ENST00000267484.5	-	4	2101				RTN1_ENST00000342503.4_Intron|RTN1_ENST00000395090.1_Splice_Site|RTN1_ENST00000557422.1_Intron	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1						neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGCTTTATACCTGGTAGAAA	0.458																																						ENST00000395090.1																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.e2+1		reticulon 1							25.0	25.0	25.0					14																	60076839		876	1991	2867	SO:0001627	intron_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60076839C>G	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1766-2629G>C	14.37:g.60076839C>G						RTN1_ENST00000557422.1_Intron|RTN1_ENST00000267484.5_Intron|RTN1_ENST00000342503.4_Intron				Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	275	-								Q16800|Q16801|Q5BKZ4|Q9BQ59	Splice_Site	SNP	ENST00000267484.5	37		CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	5.248	0.231199	0.09969	.	.	ENSG00000139970	ENST00000395090	.	.	.	3.53	0.591	0.17465	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5355	0.07793	0.0:0.544:0.2138:0.2422	.	.	.	.	.	-1	.	.	.	-	.	.	RTN1	59146592	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.094000	0.11094	0.114000	0.18032	0.563000	0.77884	.		0.458	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			4	12	0	0	0	1	0	4	12				
TRPM4	54795	broad.mit.edu	37	19	49713661	49713661	+	Splice_Site	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:49713661C>G	ENST00000252826.5	+	21	3453	c.3327C>G	c.(3325-3327)ttC>ttG	p.F1109L	TRPM4_ENST00000427978.2_Splice_Site_p.F964L|TRPM4_ENST00000355712.5_Splice_Site_p.F755L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1109	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCGAGCATTTCCGTAAGAACA	0.622																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.e21+1		transient receptor potential cation channel, subfamily M, member 4							17.0	20.0	19.0					19																	49713661		2199	4286	6485	SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713661C>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3328+1C>G	19.37:g.49713661C>G						TRPM4_ENST00000427978.2_Splice_Site_p.F964_splice|TRPM4_ENST00000355712.5_Splice_Site_p.F755_splice	p.F1109_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3453	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1109			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Splice_Site	SNP	ENST00000252826.5	37	c.3328_splice	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	2.611	-0.290746	0.05568	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.53857	0.6;0.6;0.6	4.83	3.78	0.43462	.	0.136428	0.49305	D	0.000148	T	0.47451	0.1446	L	0.28054	0.825	0.39224	D	0.963542	D;D;D;D	0.64830	0.99;0.994;0.994;0.976	P;P;P;P	0.60789	0.76;0.879;0.879;0.749	T	0.50372	-0.8836	10	0.02654	T	1	-24.349	9.457	0.38760	0.0:0.8799:0.0:0.1201	.	755;935;964;1109	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	1109;964;755	ENSP00000252826:F1109L;ENSP00000407492:F964L;ENSP00000347944:F755L	ENSP00000252826:F1109L	F	+	3	2	TRPM4	54405473	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	1.240000	0.32731	1.225000	0.43566	0.491000	0.48974	TTC		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Missense_Mutation	9	74	0	0	0	1	0	9	74				
ZNF845	91664	broad.mit.edu	37	19	53854889	53854889	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53854889C>T	ENST00000595091.1	+	5	1180	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	ZNF845_ENST00000458035.1_Missense_Mutation_p.H321Y			Q96IR2	ZN845_HUMAN	zinc finger protein 845	321					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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAAGGCAATTCATACTGGAGA	0.413																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(961-963)Cat>Tat		zinc finger protein 845							64.0	59.0	61.0					19																	53854889		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854889C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.961C>T	19.37:g.53854889C>T	ENSP00000470005:p.His321Tyr					ZNF845_ENST00000595091.1_Missense_Mutation_p.H321Y	p.H321Y	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1078	+			321						Missense_Mutation	SNP	ENST00000595091.1	37	c.961C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998807	0.54147	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.67523	-0.27	2.05	0.959	0.19624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80380	0.4612	H	0.95950	3.745	0.21675	N	0.999598	D	0.53619	0.961	P	0.52267	0.694	T	0.70766	-0.4783	9	0.72032	D	0.01	.	7.5213	0.27629	0.0:0.8532:0.0:0.1468	.	321	Q96IR2	ZN845_HUMAN	Y	321	ENSP00000388311:H321Y	ENSP00000412086:H321Y	H	+	1	0	ZNF845	58546701	0.153000	0.22777	0.000000	0.03702	0.435000	0.31806	1.286000	0.33273	0.186000	0.20125	0.205000	0.17691	CAT		0.413	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	99	0	0	0	1	0	6	99				
GRM1	2911	broad.mit.edu	37	6	146720163	146720163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:146720163T>A	ENST00000282753.1	+	7	2223	c.1988T>A	c.(1987-1989)tTg>tAg	p.L663*	GRM1_ENST00000492807.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.L663*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.L663*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.L663*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	663					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGCGCCTCTTGGTTGGCCTC	0.522																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1987-1989)tTg>tAg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						328.0	302.0	311.0					6																	146720163		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720163T>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1988T>A	6.37:g.146720163T>A	ENSP00000282753:p.Leu663*					GRM1_ENST00000355289.4_Nonsense_Mutation_p.L663*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.L663*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.L663*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.L663*	p.L663*			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2458	+		Ovarian(120;0.0387)	663					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.1988T>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	43	10.062109	0.99327	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6147	0.76756	0.0:0.0:0.0:1.0	.	.	.	.	X	663	.	ENSP00000282753:L663X	L	+	2	0	GRM1	146761856	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.040000	0.89188	2.104000	0.64026	0.477000	0.44152	TTG		0.522	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		77	241	0	0	0	1	0	77	241				
MAGI1	9223	broad.mit.edu	37	3	65367601	65367601	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:65367601G>A	ENST00000497477.2	-	16	2651	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	MAGI1_ENST00000330909.8_Silent_p.A912A|MAGI1_ENST00000402939.2_Silent_p.A884A|MAGI1_ENST00000483466.1_Silent_p.A912A			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	912	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGCCTTGCTTGGCAGCTTGTT	0.488																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2734-2736)gcC>gcT		membrane associated guanylate kinase, WW and PDZ domain containing 1							139.0	116.0	124.0					3																	65367601		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65367601G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2652C>T	3.37:g.65367601G>A						MAGI1_ENST00000402939.2_Silent_p.A884A|MAGI1_ENST00000483466.1_Silent_p.A912A|MAGI1_ENST00000497477.2_Silent_p.A884A	p.A912A	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	17	2735	-		Lung NSC(201;0.0016)	912					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.2736C>T		.	.	.	.	.	.	.	.	.	.	G	10.26	1.300471	0.23650	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	T	0.61961	0.2389	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60084	-0.7332	4	.	.	.	-26.5884	10.7134	0.45997	0.0:0.1419:0.7111:0.147	.	.	.	.	L	793	.	.	P	-	2	0	MAGI1	65342641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.096000	0.50243	2.533000	0.85409	0.655000	0.94253	CCA		0.488	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		24	29	0	0	0	1	0	24	29				
JMY	133746	broad.mit.edu	37	5	78585955	78585955	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:78585955G>A	ENST00000396137.4	+	3	1680	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	406					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TTTCCATGGAGAATGATTATC	0.348																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1216-1218)gaG>gaA		junction mediating and regulatory protein, p53 cofactor							86.0	83.0	84.0					5																	78585955		1818	4075	5893	SO:0001819	synonymous_variant	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78585955G>A	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1218G>A	5.37:g.78585955G>A							p.E406E	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	3	1680	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	406					A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.1218G>A	CCDS4047.3																																																																																				0.348	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		12	64	0	0	0	1	0	12	64				
EP300	2033	broad.mit.edu	37	22	41566523	41566523	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:41566523A>C	ENST00000263253.7	+	27	5619	c.4400A>C	c.(4399-4401)tAc>tCc	p.Y1467S	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1467	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1467C(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGGAATGGTACAAAAAAATG	0.473			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		1	Substitution - Missense(1)	p.Y1467C(1)	central_nervous_system(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4399-4401)tAc>tCc		E1A binding protein p300							126.0	107.0	113.0					22																	41566523		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566523A>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4400A>C	22.37:g.41566523A>C	ENSP00000263253:p.Tyr1467Ser					RP1-85F18.6_ENST00000415054.1_RNA	p.Y1467S	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5619	+			1467					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4400A>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243978	0.79912	.	.	ENSG00000100393	ENST00000263253	D	0.95307	-3.67	5.5	5.5	0.81552	.	0.000000	0.44285	D	0.000472	D	0.98251	0.9421	H	0.96777	3.88	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.99690	1.1001	10	0.87932	D	0	-6.7182	15.6131	0.76744	1.0:0.0:0.0:0.0	.	1467	Q09472	EP300_HUMAN	S	1467	ENSP00000263253:Y1467S	ENSP00000263253:Y1467S	Y	+	2	0	EP300	39896469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.237000	0.95368	2.084000	0.62774	0.533000	0.62120	TAC		0.473	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		45	29	0	0	0	1	0	45	29				
NSMAF	8439	broad.mit.edu	37	8	59512352	59512352	+	Silent	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:59512352T>C	ENST00000038176.3	-	18	1622	c.1410A>G	c.(1408-1410)ggA>ggG	p.G470G	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Silent_p.G501G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	470	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATCTGTCCTCCTTGTCTCT	0.443																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1408-1410)ggA>ggG		neutral sphingomyelinase (N-SMase) activation associated factor							86.0	86.0	86.0					8																	59512352		2203	4300	6503	SO:0001819	synonymous_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59512352T>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1410A>G	8.37:g.59512352T>C						NSMAF_ENST00000427130.2_Silent_p.G501G	p.G470G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			18	1622	-		all_lung(136;0.174)|Lung NSC(129;0.2)	470			BEACH.		B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	c.1410A>G	CCDS6173.1																																																																																				0.443	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		28	81	0	0	0	1	0	28	81				
CYP2E1	1571	broad.mit.edu	37	10	135350631	135350631	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:135350631G>A	ENST00000463117.2	+	9	1304	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	CYP2E1_ENST00000252945.3_Silent_p.R344R|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	344					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCAAGGATAGGCAAGAGATGC	0.512									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1030-1032)agG>agA		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						163.0	123.0	136.0					10																	135350631		2203	4300	6503	SO:0001819	synonymous_variant	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135350631G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1032G>A	10.37:g.135350631G>A						CYP2E1_ENST00000252945.3_Silent_p.R344R|SPRN_ENST00000541506.1_Intron	p.R344R			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	9	1304	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	344					Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	c.1032G>A	CCDS7686.1																																																																																				0.512	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		12	99	0	0	0	1	0	12	99				
ZNF708	7562	broad.mit.edu	37	19	21477199	21477199	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:21477199T>G	ENST00000356929.3	-	4	766	c.569A>C	c.(568-570)cAt>cCt	p.H190P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	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)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTCTCCAGTATGAATTATCTC	0.333																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(568-570)cAt>cCt		zinc finger protein 708							70.0	67.0	68.0					19																	21477199		2202	4300	6502	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21477199T>G	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.569A>C	19.37:g.21477199T>G	ENSP00000349401:p.His190Pro						p.H190P	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	766	-			190					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.569A>C	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.584643	0.28268	.	.	ENSG00000182141	ENST00000356929	D	0.88975	-2.45	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95313	0.8479	H	0.96662	3.86	0.20489	N	0.999899	P	0.49696	0.927	D	0.66196	0.942	D	0.86933	0.2074	9	0.87932	D	0	.	7.0721	0.25183	0.0:0.0:0.0:1.0	.	190	P17019	ZN708_HUMAN	P	190	ENSP00000349401:H190P	ENSP00000349401:H190P	H	-	2	0	ZNF708	21269039	0.156000	0.22821	0.002000	0.10522	0.002000	0.02628	2.174000	0.42482	0.413000	0.25759	0.402000	0.26972	CAT		0.333	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		5	41	0	0	0	1	0	5	41				
ZNF611	81856	broad.mit.edu	37	19	53217272	53217272	+	Silent	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:53217272A>C	ENST00000319783.1	-	6	502	c.186T>G	c.(184-186)gcT>gcG	p.A62A	ZNF611_ENST00000543227.1_Silent_p.A62A|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000595798.1_Intron|ZNF611_ENST00000540744.1_Silent_p.A62A|ZNF611_ENST00000596702.1_Intron|ZNF611_ENST00000600943.1_Intron	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CCTCACCCACAGCCTCCAGGT	0.478																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(184-186)gcT>gcG		zinc finger protein 611							105.0	109.0	108.0					19																	53217272		2203	4297	6500	SO:0001819	synonymous_variant	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53217272A>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.186T>G	19.37:g.53217272A>C						ZNF611_ENST00000319783.1_Silent_p.A62A|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000595798.1_Intron|ZNF611_ENST00000540744.1_Silent_p.A62A|ZNF611_ENST00000600943.1_Intron|ZNF611_ENST00000596702.1_Intron|ZNF611_ENST00000602162.1_Intron	p.A62A	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	5	460	-			62			KRAB.		B3KRD5|Q69YG9	Silent	SNP	ENST00000319783.1	37	c.186T>G	CCDS12855.1																																																																																				0.478	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		26	228	0	0	0	1	0	26	228				
RIF1	55183	broad.mit.edu	37	2	152325272	152325272	+	Splice_Site	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:152325272T>C	ENST00000243326.5	+	32	7424		c.e32+2		RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAACATGTGGTAAGTGGTTAT	0.388																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.e32+2		RAP1 interacting factor homolog (yeast)							149.0	138.0	142.0					2																	152325272		2203	4300	6503	SO:0001630	splice_region_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152325272T>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6941+2T>C	2.37:g.152325272T>C						RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site				Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	32	7424	+								A0AVS0|Q9NS16	Splice_Site	SNP	ENST00000243326.5	37		CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248922	0.80024	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1849	0.72993	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIF1	152033518	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.303000	0.78871	2.056000	0.61249	0.482000	0.46254	.		0.388	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Intron	15	71	0	0	0	1	0	15	71				
KIAA1551	55196	broad.mit.edu	37	12	32138778	32138778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:32138778C>G	ENST00000312561.4	+	4	5303	c.4889C>G	c.(4888-4890)tCa>tGa	p.S1630*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1630																	ACAGAAAAATCAAACATGCTG	0.368																																						ENST00000312561.4																			0											c.(4888-4890)tCa>tGa		KIAA1551							54.0	55.0	55.0					12																	32138778		2203	4300	6503	SO:0001587	stop_gained	55196							g.chr12:32138778C>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4889C>G	12.37:g.32138778C>G	ENSP00000310338:p.Ser1630*					KIAA1551_ENST00000535596.1_Intron	p.S1630*	NM_018169.3	NP_060639.3					4	5303	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	c.4889C>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	45	12.033026	0.99629	.	.	ENSG00000174718	ENST00000312561	.	.	.	5.44	1.28	0.21552	.	1.072290	0.07210	N	0.859015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2	0.15258	0.0:0.4782:0.2776:0.2442	.	.	.	.	X	1630	.	.	S	+	2	0	C12orf35	32030045	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.755000	0.04782	-0.049000	0.13379	0.557000	0.71058	TCA		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		9	30	0	0	0	1	0	9	30				
SNX25	83891	broad.mit.edu	37	4	186274708	186274708	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:186274708G>A	ENST00000504273.1	+	15	2338	c.2044G>A	c.(2044-2046)Gct>Act	p.A682T	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.A682T			Q9H3E2	SNX25_HUMAN	sorting nexin 25	682					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGACGCCTTGGCTGAACCATG	0.418																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(2044-2046)Gct>Act		sorting nexin 25							304.0	286.0	292.0					4																	186274708		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186274708G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2044G>A	4.37:g.186274708G>A	ENSP00000426255:p.Ala682Thr					SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.A682T	p.A682T			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	15	2338	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	682					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.2044G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693792	0.96793	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.11169	2.8;2.8	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.71036	2.16	0.80722	D	1	D;P;P	0.89917	1.0;0.941;0.926	D;P;P	0.79784	0.993;0.559;0.554	T	0.00931	-1.1510	10	0.22706	T	0.39	-14.7456	18.1048	0.89517	0.0:0.0:1.0:0.0	.	398;215;682	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	T	682;682;215	ENSP00000426255:A682T;ENSP00000264694:A682T	ENSP00000264693:A215T	A	+	1	0	SNX25	186511702	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.726000	0.93360	0.585000	0.79938	GCT		0.418	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		28	99	0	0	0	1	0	28	99				
SPANXN3	139067	broad.mit.edu	37	X	142605189	142605189	+	Nonsense_Mutation	SNP	C	C	A	rs142678625		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:142605189C>A	ENST00000370503.2	-	1	114	c.31G>T	c.(31-33)Gag>Tag	p.E11*	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	11										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGTCTTCTCCCCATTGGTG	0.443																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(31-33)Gag>Tag		SPANX family, member N3							271.0	237.0	248.0					X																	142605189		2203	4300	6503	SO:0001587	stop_gained	139067							g.chrX:142605189C>A		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.31G>T	X.37:g.142605189C>A	ENSP00000359534:p.Glu11*						p.E11*	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	114	-	Acute lymphoblastic leukemia(192;6.56e-05)		11					Q0ZNK4	Nonsense_Mutation	SNP	ENST00000370503.2	37	c.31G>T	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886195	0.33348	.	.	ENSG00000189252	ENST00000370503	.	.	.	2.36	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.8309	0.18581	0.0:0.5124:0.0:0.4876	.	.	.	.	X	11	.	ENSP00000359534:E11X	E	-	1	0	SPANXN3	142432855	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.327000	0.07955	-0.463000	0.06973	-0.495000	0.04643	GAG		0.443	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		62	41	1	0	2.69673e-31	1	3.06203e-31	62	41				
WIPF2	147179	broad.mit.edu	37	17	38420826	38420826	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:38420826G>A	ENST00000323571.4	+	5	638	c.398G>A	c.(397-399)cGt>cAt	p.R133H	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.R133H|WIPF2_ENST00000583130.1_Missense_Mutation_p.R133H	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	133					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GCCAGCGGGCGTCCTCAGGAT	0.592										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(397-399)cGt>cAt		WAS/WASL interacting protein family, member 2							72.0	82.0	78.0					17																	38420826		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38420826G>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.398G>A	17.37:g.38420826G>A	ENSP00000320924:p.Arg133His	HNSCC(43;0.11)				WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.R133H|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.R133H	p.R133H	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	638	+			133					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.398G>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.186094	0.78789	.	.	ENSG00000171475	ENST00000323571	T	0.35048	1.33	5.16	5.16	0.70880	.	0.113655	0.56097	D	0.000028	T	0.48114	0.1482	M	0.73962	2.25	0.80722	D	1	D	0.61080	0.989	P	0.47470	0.548	T	0.48340	-0.9044	10	0.34782	T	0.22	-9.719	18.9226	0.92530	0.0:0.0:1.0:0.0	.	133	Q8TF74	WIPF2_HUMAN	H	133	ENSP00000320924:R133H	ENSP00000320924:R133H	R	+	2	0	WIPF2	35674352	1.000000	0.71417	0.929000	0.37066	0.963000	0.63663	4.916000	0.63362	2.701000	0.92244	0.544000	0.68410	CGT		0.592	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		124	173	0	0	0	1	0	124	173				
ZNF776	284309	broad.mit.edu	37	19	58265261	58265261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:58265261C>T	ENST00000317178.5	+	3	1026	c.763C>T	c.(763-765)Cag>Tag	p.Q255*		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TAATAATCATCAGGGAGTTCG	0.423																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(763-765)Cag>Tag		zinc finger protein 776							69.0	69.0	69.0					19																	58265261		2203	4300	6503	SO:0001587	stop_gained	284309							g.chr19:58265261C>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.763C>T	19.37:g.58265261C>T	ENSP00000321812:p.Gln255*						p.Q255*	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1026	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Nonsense_Mutation	SNP	ENST00000317178.5	37	c.763C>T	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007936	0.75046	.	.	ENSG00000152443	ENST00000317178	.	.	.	1.67	-1.76	0.08006	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999891	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.8386	0.08905	0.3931:0.4635:0.0:0.1434	.	.	.	.	X	255	.	ENSP00000321812:Q255X	Q	+	1	0	ZNF776	62957073	0.024000	0.19004	0.000000	0.03702	0.014000	0.08584	-0.200000	0.09478	-0.512000	0.06505	0.305000	0.20034	CAG		0.423	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		10	120	0	0	0	1	0	10	120				
ZFYVE20	64145	broad.mit.edu	37	3	15137556	15137556	+	Silent	SNP	C	C	T	rs574114579		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:15137556C>T	ENST00000253699.3	-	4	685	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ZFYVE20_ENST00000476527.2_Silent_p.Q24Q|ZFYVE20_ENST00000449050.1_Silent_p.Q24Q|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Silent_p.Q24Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	24					blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GATAGAAAGACTGCAGATCCT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21657	0.0		0.0	False		,,,				2504	0.001					ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(70-72)caG>caA		zinc finger, FYVE domain containing 20							178.0	165.0	169.0					3																	15137556		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15137556C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.72G>A	3.37:g.15137556C>T						ZFYVE20_ENST00000435849.3_Silent_p.Q24Q|ZFYVE20_ENST00000449050.1_Silent_p.Q24Q|ZFYVE20_ENST00000476527.2_Silent_p.Q24Q|ZFYVE20_ENST00000449964.2_5'UTR	p.Q24Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			4	685	-			24					B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.72G>A	CCDS2623.1																																																																																				0.537	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		11	98	0	0	0	1	0	11	98				
SPTA1	6708	broad.mit.edu	37	1	158592867	158592867	+	Missense_Mutation	SNP	C	C	T	rs188580757	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:158592867C>T	ENST00000368147.4	-	43	6206	c.6026G>A	c.(6025-6027)cGt>cAt	p.R2009H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2009					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCGGCATAACGCTCTTCAAT	0.498													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16820	0.0		0.002	False		,,,				2504	0.0					ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6025-6027)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	0,3896		0,0,1948	279.0	280.0	280.0		6026	2.9	0.1	1		280	4,8284		0,4,4140	yes	missense	SPTA1	NM_003126.2	29	0,4,6088	TT,TC,CC		0.0483,0.0,0.0328	probably-damaging	2009/2420	158592867	4,12180	1948	4144	6092	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592867C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6026G>A	1.37:g.158592867C>T	ENSP00000357129:p.Arg2009His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R2006H|SPTA1_ENST00000461624.1_5'UTR	p.R2009H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6206	-	all_hematologic(112;0.0378)		2009					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6026G>A	CCDS41423.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	14.81	2.646909	0.47258	0.0	4.83E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56275	0.47;0.47	4.78	2.88	0.33553	.	.	.	.	.	T	0.56062	0.1960	M	0.80616	2.505	0.38977	D	0.958872	D	0.61697	0.99	P	0.57720	0.826	T	0.61402	-0.7070	9	0.56958	D	0.05	.	10.2722	0.43489	0.0:0.8334:0.0:0.1666	.	2009	P02549	SPTA1_HUMAN	H	2009;2006	ENSP00000357130:R2009H;ENSP00000357129:R2006H	ENSP00000357129:R2006H	R	-	2	0	SPTA1	156859491	1.000000	0.71417	0.145000	0.22337	0.001000	0.01503	5.394000	0.66285	0.599000	0.29845	0.655000	0.94253	CGT		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		59	399	0	0	0	1	0	59	399				
SEPHS2	22928	broad.mit.edu	37	16	30456191	30456191	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:30456191C>T	ENST00000478753.2	-	1	1311	c.858G>A	c.(856-858)ctG>ctA	p.L286L	SEPHS2_ENST00000500504.2_Silent_p.L286L|SEPHS2_ENST00000542752.1_Silent_p.L229L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	286					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTGATAGGCCAGCTCCACCT	0.483																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(856-858)ctG>ctA		selenophosphate synthetase 2							104.0	103.0	103.0					16																	30456191		1991	4166	6157	SO:0001819	synonymous_variant	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456191C>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.858G>A	16.37:g.30456191C>T						SEPHS2_ENST00000542752.1_Silent_p.L229L|SEPHS2_ENST00000500504.2_Silent_p.L286L	p.L286L			Q99611	SPS2_HUMAN			1	1311	-			286					Q9BUQ2	Silent	SNP	ENST00000478753.2	37	c.858G>A																																																																																					0.483	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		11	132	0	0	0	1	0	11	132				
ZNF616	90317	broad.mit.edu	37	19	52619126	52619126	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:52619126G>A	ENST00000600228.1	-	4	1552	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTCCAGTATGAATTCTCTGA	0.418																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1291-1293)Cat>Tat		zinc finger protein 616							153.0	136.0	141.0					19																	52619126		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619126G>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1291C>T	19.37:g.52619126G>A	ENSP00000471000:p.His431Tyr					ZNF616_ENST00000330123.5_3'UTR	p.H431Y	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1552	-			431					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1291C>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276972	0.59758	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75635	0.3876	H	0.94423	3.535	0.29246	N	0.872281	D	0.76494	0.999	D	0.75020	0.985	T	0.67122	-0.5750	8	0.87932	D	0	.	7.6537	0.28363	0.0:0.0:1.0:0.0	.	431	Q08AN1	ZN616_HUMAN	Y	431	.	ENSP00000328722:H431Y	H	-	1	0	ZNF616	57310938	1.000000	0.71417	0.154000	0.22540	0.319000	0.28217	5.106000	0.64597	0.883000	0.36040	0.305000	0.20034	CAT		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		22	162	0	0	0	1	0	22	162				
OR5M8	219484	broad.mit.edu	37	11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T	rs574852072	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483													C|||	4	0.000798722	0.0	0.0014	5008	,	,		19178	0.0		0.0	False		,,,				2504	0.0031					ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(58-60)cGg>cAg		olfactory receptor, family 5, subfamily M, member 8							80.0	85.0	83.0					11																	56258788		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258788C>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.59G>A	11.37:g.56258788C>T	ENSP00000323354:p.Arg20Gln						p.R20Q	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	83	-	Esophageal squamous(21;0.00352)		20					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.59G>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	8.855	0.945463	0.18356	.	.	ENSG00000181371	ENST00000327216	T	0.00433	7.43	4.13	-7.18	0.01505	.	1.292630	0.06259	U	0.693636	T	0.00144	0.0004	N	0.03154	-0.405	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.36915	-0.9728	10	0.39692	T	0.17	0.1659	3.5083	0.07699	0.209:0.2522:0.4222:0.1166	.	20	Q8NGP6	OR5M8_HUMAN	Q	20	ENSP00000323354:R20Q	ENSP00000323354:R20Q	R	-	2	0	OR5M8	56015364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.691000	0.00198	-1.486000	0.01851	-1.292000	0.01352	CGG		0.483	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		17	130	0	0	0	1	0	17	130				
ASMT	438	broad.mit.edu	37	X	1752132	1752132	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:1752132G>A	ENST00000381229.4	+	6	688	c.652G>A	c.(652-654)Gca>Aca	p.A218T	ASMT_ENST00000381233.3_Intron|ASMT_ENST00000509780.1_Intron|ASMT_ENST00000381241.3_Missense_Mutation_p.A246T			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	218					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGTGTGGACGGCAAAGCAGCA	0.527																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(736-738)Gca>Aca		acetylserotonin O-methyltransferase							517.0	406.0	444.0					X																	1752132		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1752132G>A	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.652G>A	X.37:g.1752132G>A	ENSP00000370627:p.Ala218Thr					ASMT_ENST00000381229.4_Missense_Mutation_p.A218T|RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Intron	p.A246T	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			7	935	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	218					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.736G>A		.	.	.	.	.	.	.	.	.	.	g	12.83	2.056725	0.36277	.	.	ENSG00000196433	ENST00000381241;ENST00000381229	T;T	0.31510	1.49;1.49	1.3	1.3	0.21679	.	0.304599	0.29861	U	0.011018	T	0.47875	0.1469	M	0.78637	2.42	0.80722	D	1	D	0.65815	0.995	P	0.60117	0.869	T	0.51228	-0.8732	10	0.62326	D	0.03	.	10.0526	0.42225	0.0:0.0:1.0:0.0	.	246	P46597-3	.	T	246;218	ENSP00000370639:A246T;ENSP00000370627:A218T	ENSP00000370627:A218T	A	+	1	0	ASMT	1712132	0.318000	0.24598	0.006000	0.13384	0.061000	0.15899	1.710000	0.37920	0.612000	0.30071	0.275000	0.19346	GCA		0.527	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		4	171	0	0	0	1	0	4	171				
TTLL2	83887	broad.mit.edu	37	6	167754936	167754936	+	Silent	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:167754936G>C	ENST00000239587.5	+	3	1636	c.1548G>C	c.(1546-1548)acG>acC	p.T516T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	516					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCAGGCACACGCCTCACAAGA	0.577																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1546-1548)acG>acC		tubulin tyrosine ligase-like family, member 2							147.0	120.0	129.0					6																	167754936		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754936G>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1548G>C	6.37:g.167754936G>C							p.T516T	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1636	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	516					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1548G>C	CCDS5301.1																																																																																				0.577	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		17	98	0	0	0	1	0	17	98				
HEXDC	284004	broad.mit.edu	37	17	80391643	80391643	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80391643A>T	ENST00000327949.9	+	4	403	c.392A>T	c.(391-393)gAc>gTc	p.D131V	HEXDC_ENST00000337014.6_Missense_Mutation_p.D131V|HEXDC_ENST00000577944.1_Missense_Mutation_p.D131V			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	131					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCATGATTGACCAGGTCCTG	0.662																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(391-393)gAc>gTc		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							36.0	40.0	39.0					17																	80391643		1942	4133	6075	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80391643A>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.392A>T	17.37:g.80391643A>T	ENSP00000332634:p.Asp131Val					HEXDC_ENST00000577944.1_Missense_Mutation_p.D131V|HEXDC_ENST00000327949.9_Missense_Mutation_p.D131V	p.D131V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		5	866	+	Breast(20;0.00106)|all_neural(118;0.0804)		131					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.392A>T		.	.	.	.	.	.	.	.	.	.	A	10.31	1.316047	0.23908	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.91295	-2.82;-2.82	5.3	4.19	0.49359	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.297185	0.39759	N	0.001278	D	0.88826	0.6542	M	0.77820	2.39	0.44694	D	0.997685	B;P	0.46912	0.43;0.886	B;B	0.40982	0.345;0.343	D	0.86750	0.1960	10	0.59425	D	0.04	-25.6977	7.3595	0.26737	0.8226:0.0:0.1774:0.0	.	131;131	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	V	131	ENSP00000337854:D131V;ENSP00000332634:D131V	ENSP00000332634:D131V	D	+	2	0	HEXDC	77984932	0.998000	0.40836	0.918000	0.36340	0.657000	0.38888	3.293000	0.51779	0.827000	0.34685	0.460000	0.39030	GAC		0.662	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		34	55	0	0	0	1	0	34	55				
GCLC	2729	broad.mit.edu	37	6	53385621	53385621	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:53385621A>G	ENST00000229416.6	-	3	884	c.401T>C	c.(400-402)aTa>aCa	p.I134T	GCLC_ENST00000514004.1_Missense_Mutation_p.I134T	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	134					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TTCTTCTAATATAGAAGTAGC	0.443																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(400-402)aTa>aCa		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						187.0	199.0	195.0					6																	53385621		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53385621A>G	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.401T>C	6.37:g.53385621A>G	ENSP00000229416:p.Ile134Thr					GCLC_ENST00000514004.1_Missense_Mutation_p.I134T	p.I134T	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			3	884	-	Lung NSC(77;0.0137)		134					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.401T>C	CCDS4952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.746|9.746	1.166137|1.166137	0.21621|0.21621	.|.	.|.	ENSG00000001084|ENSG00000001084	ENST00000229416;ENST00000514004;ENST00000514933|ENST00000513939	T;T;T|.	0.73575|.	-0.43;-0.43;-0.76|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.569521|.	0.18054|.	N|.	0.153194|.	T|T	0.21186|0.21186	0.0510|0.0510	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.13145|.	0.007|.	B|.	0.15484|.	0.013|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.23891|.	T|.	0.37|.	.|.	15.5931|15.5931	0.76554|0.76554	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	134|.	P48506|.	GSH1_HUMAN|.	T|H	134;134;81|122	ENSP00000229416:I134T;ENSP00000421908:I134T;ENSP00000423615:I81T|.	ENSP00000229416:I134T|.	I|Y	-|-	2|1	0|0	GCLC|GCLC	53493580|53493580	0.454000|0.454000	0.25728|0.25728	0.003000|0.003000	0.11579|0.11579	0.836000|0.836000	0.47400|0.47400	5.112000|5.112000	0.64634|0.64634	2.150000|2.150000	0.67090|0.67090	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.443	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			40	583	0	0	0	1	0	40	583				
CPN1	1369	broad.mit.edu	37	10	101802265	101802265	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:101802265C>T	ENST00000370418.3	-	9	1547	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	432					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TGACTCCGTGCCTTCTGCTGG	0.532																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1294-1296)agG>agA		carboxypeptidase N, polypeptide 1							100.0	85.0	90.0					10																	101802265		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101802265C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1296G>A	10.37:g.101802265C>T							p.R432R	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	9	1547	-		Colorectal(252;0.234)	432					B1AP59	Silent	SNP	ENST00000370418.3	37	c.1296G>A	CCDS7486.1																																																																																				0.532	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		9	70	0	0	0	1	0	9	70				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	92	0	0	0	1	0	7	92				
SLC4A4	8671	broad.mit.edu	37	4	72399993	72399993	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:72399993C>T	ENST00000264485.5	+	18	2447	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	SLC4A4_ENST00000340595.3_Missense_Mutation_p.P733L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P777L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.P777L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	777	Interaction with CA4.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGAGAAAACCCCTGGTGGGTG	0.418																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2197-2199)cCc>cTc		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							76.0	75.0	76.0					4																	72399993		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72399993C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2330C>T	4.37:g.72399993C>T	ENSP00000264485:p.Pro777Leu					SLC4A4_ENST00000264485.5_Missense_Mutation_p.P777L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.P777L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P777L	p.P733L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		15	2394	+			777					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2198C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298916	0.95574	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	5.69	5.69	0.88448	Bicarbonate transporter, C-terminal (1);	0.094242	0.85682	D	0.000000	D	0.93083	0.7798	H	0.95004	3.61	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;0.999;1.0	D	0.94386	0.7609	10	0.87932	D	0	.	19.8191	0.96583	0.0:1.0:0.0:0.0	.	777;777;733;777	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	L	777;777;777;733	ENSP00000264485:P777L;ENSP00000393557:P777L;ENSP00000307349:P777L;ENSP00000344272:P733L	ENSP00000264485:P777L	P	+	2	0	SLC4A4	72618857	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.787000	0.85759	2.676000	0.91093	0.650000	0.86243	CCC		0.418	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		8	53	0	0	0	1	0	8	53				
FOXK2	3607	broad.mit.edu	37	17	80477932	80477932	+	Silent	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:80477932C>A	ENST00000335255.5	+	1	342	c.168C>A	c.(166-168)atC>atA	p.I56I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	56	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CGGTGACCATCGGCCGCAACT	0.741																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(166-168)atC>atA		forkhead box K2							30.0	35.0	33.0					17																	80477932		2189	4279	6468	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80477932C>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.168C>A	17.37:g.80477932C>A							p.I56I	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		1	342	+	Breast(20;0.00106)|all_neural(118;0.0952)		56	AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).		FHA.|Gly-rich.		A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.168C>A	CCDS11813.1																																																																																				0.741	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		6	83	1	0	0.0293803	1	0.0296929	6	83				
SAMHD1	25939	broad.mit.edu	37	20	35533769	35533769	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:35533769T>C	ENST00000262878.4	-	12	1607	c.1408A>G	c.(1408-1410)Agg>Ggg	p.R470G		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	470					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TAACTCACCCTTTTAATCTTT	0.393																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1408-1410)Agg>Ggg		SAM domain and HD domain 1							219.0	207.0	211.0					20																	35533769		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35533769T>C	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1408A>G	20.37:g.35533769T>C	ENSP00000262878:p.Arg470Gly						p.R470G	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			12	1607	-		Myeloproliferative disorder(115;0.00878)	470					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1408A>G	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760750	0.31137	.	.	ENSG00000101347	ENST00000262878	D	0.95103	-3.61	5.06	2.74	0.32292	.	0.755406	0.13710	N	0.368165	D	0.87877	0.6288	N	0.22421	0.69	0.19775	N	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.75028	-0.3462	10	0.20046	T	0.44	-2.0881	9.4687	0.38829	0.0:0.1502:0.0:0.8498	.	470	Q9Y3Z3	SAMH1_HUMAN	G	470	ENSP00000262878:R470G	ENSP00000262878:R470G	R	-	1	2	SAMHD1	34967183	0.003000	0.15002	0.002000	0.10522	0.187000	0.23431	1.309000	0.33539	0.965000	0.38133	0.379000	0.24179	AGG		0.393	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		13	112	0	0	0	1	0	13	112				
DOCK8	81704	broad.mit.edu	37	9	390521	390521	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:390521G>A	ENST00000453981.1	+	24	3037	c.2925G>A	c.(2923-2925)gtG>gtA	p.V975V	DOCK8_ENST00000382331.1_Silent_p.V277V|DOCK8_ENST00000432829.2_Silent_p.V907V|DOCK8_ENST00000469391.1_Silent_p.V875V|DOCK8_ENST00000382329.1_Silent_p.V442V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	975					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)		CCGGAATGGTGAGAGAAACAG	0.438																																						ENST00000432829.2																			0				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						c.(2719-2721)gtG>gtA		dedicator of cytokinesis 8							277.0	233.0	248.0					9																	390521		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:390521G>A	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.2925G>A	9.37:g.390521G>A						DOCK8_ENST00000382331.1_Silent_p.V277V|DOCK8_ENST00000453981.1_Silent_p.V975V|DOCK8_ENST00000469391.1_Silent_p.V875V|DOCK8_ENST00000382329.1_Silent_p.V442V	p.V907V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	24	3037	+		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)	975					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.2721G>A	CCDS6440.2																																																																																				0.438	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		3	36	0	0	0	1	0	3	36				
ATM	472	broad.mit.edu	37	11	108163425	108163425	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:108163425G>A	ENST00000452508.2	+	31	4705	c.4516G>A	c.(4516-4518)Gtg>Atg	p.V1506M	ATM_ENST00000278616.4_Missense_Mutation_p.V1506M			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1506					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCAGACAGCCGTGACTTACTG	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4516-4518)Gtg>Atg	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							249.0	223.0	232.0					11																	108163425		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108163425G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4516G>A	11.37:g.108163425G>A	ENSP00000388058:p.Val1506Met	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.V1506M	p.V1506M	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	30	4901	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1506					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4516G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979052	0.74360	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.68331	-0.32;-0.32	5.01	5.01	0.66863	Armadillo-type fold (1);	0.063063	0.64402	D	0.000006	T	0.73860	0.3641	L	0.56769	1.78	0.39535	D	0.968735	D	0.63880	0.993	P	0.53490	0.727	T	0.74648	-0.3595	10	0.37606	T	0.19	.	18.6858	0.91563	0.0:0.0:1.0:0.0	.	1506	Q13315	ATM_HUMAN	M	1506	ENSP00000278616:V1506M;ENSP00000388058:V1506M	ENSP00000278616:V1506M	V	+	1	0	ATM	107668635	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.624000	0.74243	2.462000	0.83206	0.563000	0.77884	GTG		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		16	122	0	0	0	1	0	16	122				
MARCH11	441061	broad.mit.edu	37	5	16177931	16177931	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:16177931G>T	ENST00000332432.8	-	2	796	c.597C>A	c.(595-597)tgC>tgA	p.C199*	MARCH11_ENST00000505509.1_5'UTR|RP11-19O2.2_ENST00000509037.1_RNA	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	199					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTTTAGCAGGCACAGCTGAT	0.433																																						ENST00000332432.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						c.(595-597)tgC>tgA		membrane-associated ring finger (C3HC4) 11							106.0	103.0	104.0					5																	16177931		1932	4138	6070	SO:0001587	stop_gained	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177931G>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.597C>A	5.37:g.16177931G>T	ENSP00000333181:p.Cys199*					MARCH11_ENST00000505509.1_5'UTR	p.C199*	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN			2	796	-			199					A7E2S6	Nonsense_Mutation	SNP	ENST00000332432.8	37	c.597C>A	CCDS47192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.400252|8.400252	0.98794|0.98794	.|.	.|.	ENSG00000183654|ENSG00000183654	ENST00000507111|ENST00000332432	.|.	.|.	.|.	5.68|5.68	1.32|1.32	0.21799|0.21799	.|.	.|0.344611	.|0.25666	.|U	.|0.029105	T|.	0.21468|.	0.0517|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40403|.	-0.9565|.	3|.	.|0.02654	.|T	.|1	-9.0234|-9.0234	9.4216|9.4216	0.38555|0.38555	0.2994:0.0:0.7006:0.0|0.2994:0.0:0.7006:0.0	.|.	.|.	.|.	.|.	D|X	3|199	.|.	.|ENSP00000333181:C199X	A|C	-|-	2|3	0|2	MARCH11|MARCH11	16230931|16230931	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	1.425000|1.425000	0.34859|0.34859	-0.058000|-0.058000	0.13177|0.13177	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.433	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		5	59	1	0	1.23904e-05	1	1.30788e-05	5	59				
SLCO4C1	353189	broad.mit.edu	37	5	101599462	101599462	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:101599462G>T	ENST00000310954.6	-	4	1111	c.825C>A	c.(823-825)atC>atA	p.I275I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAGGGCCTAAGATTGACATAG	0.368																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(823-825)atC>atA		solute carrier organic anion transporter family, member 4C1							142.0	135.0	138.0					5																	101599462		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101599462G>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.825C>A	5.37:g.101599462G>T							p.I275I	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	4	1111	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	275						Silent	SNP	ENST00000310954.6	37	c.825C>A	CCDS34205.1																																																																																				0.368	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		22	95	1	0	3.6726e-16	1	4.10467e-16	22	95				
VARS	7407	broad.mit.edu	37	6	31747296	31747296	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:31747296G>A	ENST00000375663.3	-	28	3746	c.3306C>T	c.(3304-3306)ccC>ccT	p.P1102P	VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375686.3_5'Flank|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1102					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTTCTGCCTCGGGGTCCTTCC	0.682																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(3304-3306)ccC>ccT		valyl-tRNA synthetase	L-Valine(DB00161)						22.0	26.0	24.0					6																	31747296		1507	2706	4213	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31747296G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3306C>T	6.37:g.31747296G>A							p.P1102P	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			28	3746	-			1102					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.3306C>T	CCDS34412.1																																																																																				0.682	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		5	50	0	0	0	1	0	5	50				
STAT2	6773	broad.mit.edu	37	12	56748400	56748400	+	Splice_Site	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr12:56748400T>C	ENST00000314128.4	-	8	657		c.e8-2		RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Splice_Site|STAT2_ENST00000418572.2_Splice_Site			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGCACCTCCTGGGAAAGAGA	0.527																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.e8-2		signal transducer and activator of transcription 2, 113kDa							90.0	81.0	84.0					12																	56748400		2203	4300	6503	SO:0001630	splice_region_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56748400T>C	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.634-2A>G	12.37:g.56748400T>C						STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site				P52630	STAT2_HUMAN			8	657	-								B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Splice_Site	SNP	ENST00000314128.4	37		CCDS8917.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272709	0.40194	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6108	0.51057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT2	55034667	0.993000	0.37304	0.905000	0.35620	0.500000	0.33767	3.601000	0.54059	2.000000	0.58554	0.482000	0.46254	.		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	Intron	12	101	0	0	0	1	0	12	101				
MRPS28	28957	broad.mit.edu	37	8	80942442	80942442	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:80942442G>T	ENST00000276585.4	-	1	64	c.42C>A	c.(40-42)agC>agA	p.S14R	MRPS28_ENST00000521434.1_5'Flank|MRPS28_ENST00000521605.1_Missense_Mutation_p.S14R|TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000522987.1_5'UTR|RP11-92K15.3_ENST00000607017.1_lincRNA	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	14						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			GCAGAAAATGGCTCTCGGCAG	0.597																																						ENST00000276585.4																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(40-42)agC>agA		mitochondrial ribosomal protein S28							35.0	38.0	37.0					8																	80942442		2203	4300	6503	SO:0001583	missense	28957					mitochondrial small ribosomal subunit		g.chr8:80942442G>T	AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.42C>A	8.37:g.80942442G>T	ENSP00000276585:p.Ser14Arg					TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000521605.1_Missense_Mutation_p.S14R|MRPS28_ENST00000522987.1_5'UTR	p.S14R	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)		1	64	-	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		14					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000276585.4	37	c.42C>A	CCDS6226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.128|7.128	0.579246|0.579246	0.13686|0.13686	.|.	.|.	ENSG00000147586|ENSG00000147586	ENST00000518271|ENST00000276585;ENST00000521605	.|T	.|0.49720	.|0.77	5.38|5.38	-1.22|-1.22	0.09494|0.09494	.|.	.|0.781286	.|0.12513	.|N	.|0.462348	T|T	0.23289|0.23289	0.0563|0.0563	N|N	0.12746|0.12746	0.255|0.255	0.19575|0.19575	N|N	0.999963|0.999963	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.12243|0.12243	-1.0555|-1.0555	5|10	.|0.37606	.|T	.|0.19	.|.	4.3129|4.3129	0.10979|0.10979	0.3089:0.0:0.4454:0.2457|0.3089:0.0:0.4454:0.2457	.|.	.|14	.|Q9Y2Q9	.|RT28_HUMAN	D|R	9|14	.|ENSP00000276585:S14R	.|ENSP00000276585:S14R	A|S	-|-	2|3	0|2	MRPS28|MRPS28	81104997|81104997	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.216000|0.216000	0.24613|0.24613	-0.368000|-0.368000	0.07543|0.07543	-0.157000|-0.157000	0.11059|0.11059	-0.152000|-0.152000	0.13540|0.13540	GCC|AGC		0.597	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018		5	71	1	0	1	1	1	5	71				
LILRA5	353514	broad.mit.edu	37	19	54823409	54823409	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:54823409G>A	ENST00000301219.3	-	4	253	c.134C>T	c.(133-135)tCc>tTc	p.S45F	LILRA5_ENST00000432233.3_Missense_Mutation_p.S45F|LILRA5_ENST00000346508.3_Missense_Mutation_p.S33F|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.S33F	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	45					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGCTTTGGAGAGGTTCCC	0.622																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(133-135)tCc>tTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							51.0	54.0	53.0					19																	54823409		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823409G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.134C>T	19.37:g.54823409G>A	ENSP00000301219:p.Ser45Phe					LILRA5_ENST00000446712.3_Missense_Mutation_p.S33F|LILRA5_ENST00000346508.3_Missense_Mutation_p.S33F|LILRA5_ENST00000432233.3_Missense_Mutation_p.S45F|AC008984.2_ENST00000507363.1_RNA	p.S45F	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	253	-	Ovarian(34;0.19)		45					A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.134C>T	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100298	0.20552	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	3.36	0.986	0.19784	Immunoglobulin-like fold (1);	0.365309	0.19635	U	0.109600	T	0.06917	0.0176	L	0.29908	0.895	0.21105	N	0.999785	B;B;B;B	0.24043	0.004;0.096;0.011;0.018	B;B;B;B	0.23275	0.016;0.045;0.011;0.007	T	0.29274	-1.0017	10	0.87932	D	0	.	4.0244	0.09680	0.1343:0.0:0.6356:0.23	.	33;45;33;45	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	F	45;33;33;45	ENSP00000301219:S45F;ENSP00000302948:S33F;ENSP00000389499:S33F;ENSP00000404236:S45F	ENSP00000301219:S45F	S	-	2	0	LILRA5	59515221	0.980000	0.34600	0.360000	0.25837	0.003000	0.03518	0.711000	0.25764	0.055000	0.16094	-0.474000	0.04947	TCC		0.622	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		9	96	0	0	0	1	0	9	96				
POTEC	388468	broad.mit.edu	37	18	14542642	14542642	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr18:14542642C>T	ENST00000358970.5	-	1	503	c.504G>A	c.(502-504)aaG>aaA	p.K168K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	168										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCTTGTCCCTCTTGTTCATGT	0.597																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(502-504)aaG>aaA		POTE ankyrin domain family, member C							284.0	265.0	271.0					18																	14542642		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542642C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.504G>A	18.37:g.14542642C>T						POTEC_ENST00000389891.4_5'UTR	p.K168K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	503	-			168						Silent	SNP	ENST00000358970.5	37	c.504G>A	CCDS45835.1																																																																																				0.597	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		18	176	0	0	0	1	0	18	176				
OR10X1	128367	broad.mit.edu	37	1	158548963	158548963	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:158548963T>A	ENST00000368150.1	-	1	726	c.727A>T	c.(727-729)Agg>Tgg	p.R243W		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	243						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(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAAGGGATCCTGAGGACAGTA	0.458																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(727-729)Agg>Tgg		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							126.0	126.0	126.0					1																	158548963		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548963T>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.727A>T	1.37:g.158548963T>A	ENSP00000357132:p.Arg243Trp						p.R243W	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	726	-	all_hematologic(112;0.0378)		243					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.727A>T	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841435	0.32513	.	.	ENSG00000186400	ENST00000368150	T	0.00269	8.37	4.8	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.258257	0.26200	N	0.025744	T	0.00271	0.0008	M	0.89163	3.01	0.09310	N	1	D	0.67145	0.996	P	0.60345	0.873	T	0.13953	-1.0490	10	0.87932	D	0	.	10.6958	0.45899	0.0:0.0:0.1606:0.8394	.	243	Q8NGY0	O10X1_HUMAN	W	243	ENSP00000357132:R243W	ENSP00000357132:R243W	R	-	1	2	OR10X1	156815587	0.000000	0.05858	0.969000	0.41365	0.237000	0.25408	0.589000	0.23939	0.807000	0.34208	0.460000	0.39030	AGG		0.458	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		23	121	0	0	0	1	0	23	121				
MDN1	23195	broad.mit.edu	37	6	90353891	90353891	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:90353891C>T	ENST00000369393.3	-	102	16739	c.16624G>A	c.(16624-16626)Gta>Ata	p.V5542I	MDN1_ENST00000428876.1_Missense_Mutation_p.V5542I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5542	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATATCGGTACTTTAATGTCC	0.408																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(16624-16626)Gta>Ata		MDN1, midasin homolog (yeast)							122.0	115.0	117.0					6																	90353891		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90353891C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16624G>A	6.37:g.90353891C>T	ENSP00000358400:p.Val5542Ile					MDN1_ENST00000428876.1_Missense_Mutation_p.V5542I	p.V5542I			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	102	16739	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5542			VWFA.		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.16624G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798388	0.70567	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03413	3.94;3.94	5.83	5.83	0.93111	von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000001	T	0.14227	0.0344	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.01537	-1.1330	10	0.36615	T	0.2	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	5542	Q9NU22	MDN1_HUMAN	I	5542	ENSP00000358400:V5542I;ENSP00000413970:V5542I	ENSP00000358400:V5542I	V	-	1	0	MDN1	90410612	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.251000	0.78297	2.763000	0.94921	0.555000	0.69702	GTA		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	134	0	0	0	1	0	5	134				
SLC25A22	79751	broad.mit.edu	37	11	793596	793596	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:793596C>T	ENST00000320230.5	-	5	707	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	SLC25A22_ENST00000531214.1_Missense_Mutation_p.V76I	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	76					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGGGGGTGACGAGGGTCAAG	0.637																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(226-228)Gtc>Atc		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						80.0	67.0	71.0					11																	793596		2203	4299	6502	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:793596C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.226G>A	11.37:g.793596C>T	ENSP00000322020:p.Val76Ile					SLC25A22_ENST00000531214.1_Missense_Mutation_p.V76I	p.V76I	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	707	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	76					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.226G>A	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790466	0.70337	.	.	ENSG00000177542	ENST00000320230;ENST00000531214;ENST00000481290;ENST00000531437;ENST00000533385;ENST00000526152;ENST00000528606;ENST00000527723;ENST00000531514;ENST00000528936;ENST00000456706;ENST00000532484;ENST00000529066;ENST00000531534	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	3.44	3.44	0.39384	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	T	0.64616	0.2614	N	0.10618	0.005	0.80722	D	1	P	0.51791	0.948	P	0.48815	0.591	T	0.63292	-0.6670	10	0.16420	T	0.52	-50.7631	15.4366	0.75152	0.0:1.0:0.0:0.0	.	76	Q9H936	GHC1_HUMAN	I	76;76;101;72;76;76;76;76;76;76;76;76;76;76	ENSP00000322020:V76I;ENSP00000437236:V76I;ENSP00000431829:V101I;ENSP00000435862:V72I;ENSP00000434287:V76I;ENSP00000436745:V76I;ENSP00000437045:V76I;ENSP00000434479:V76I;ENSP00000433780:V76I;ENSP00000432817:V76I;ENSP00000392749:V76I;ENSP00000431466:V76I;ENSP00000433028:V76I;ENSP00000435402:V76I	ENSP00000322020:V76I	V	-	1	0	SLC25A22	783596	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.379000	0.79691	1.932000	0.55993	0.591000	0.81541	GTC		0.637	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			4	44	0	0	0	1	0	4	44				
NSD1	64324	broad.mit.edu	37	5	176675242	176675242	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:176675242G>A	ENST00000439151.2	+	11	4603	c.4558G>A	c.(4558-4560)Gaa>Aaa	p.E1520K	NSD1_ENST00000361032.4_Missense_Mutation_p.E1417K|NSD1_ENST00000354179.4_Missense_Mutation_p.E1251K|NSD1_ENST00000347982.4_Missense_Mutation_p.E1251K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1520					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAAGGTGTAGAACACGATCC	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4558-4560)Gaa>Aaa		nuclear receptor binding SET domain protein 1							78.0	79.0	78.0					5																	176675242		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675242G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4558G>A	5.37:g.176675242G>A	ENSP00000395929:p.Glu1520Lys	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.E1251K|NSD1_ENST00000347982.4_Missense_Mutation_p.E1251K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1417K	p.E1520K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4603	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1520					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4558G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503328	0.85176	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.22	5.22	0.72569	Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000026	D	0.95118	0.8418	L	0.55481	1.735	0.38237	D	0.941211	D;D;D	0.60575	0.98;0.988;0.972	P;P;P	0.59115	0.852;0.852;0.719	D	0.96100	0.9068	10	0.59425	D	0.04	.	18.7766	0.91913	0.0:0.0:1.0:0.0	.	1251;1417;1520	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	1251;1520;1251;1417	ENSP00000346111:E1251K;ENSP00000395929:E1520K;ENSP00000343209:E1251K;ENSP00000354310:E1417K	ENSP00000343209:E1251K	E	+	1	0	NSD1	176607848	1.000000	0.71417	0.106000	0.21319	0.701000	0.40568	7.095000	0.76952	2.425000	0.82216	0.655000	0.94253	GAA		0.488	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		5	34	0	0	0	1	0	5	34				
SLCO4A1	28231	broad.mit.edu	37	20	61296316	61296316	+	Silent	SNP	G	G	T	rs373862291		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:61296316G>T	ENST00000370507.1	+	5	1248	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.T384T|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	384					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGAACCCCACGTTCATCCTGC	0.627																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1150-1152)acG>acT		solute carrier organic anion transporter family, member 4A1							103.0	94.0	97.0					20																	61296316		2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61296316G>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1152G>T	20.37:g.61296316G>T						RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000370507.1_Silent_p.T384T	p.T384T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		6	1357	+	Breast(26;3.65e-08)		384					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1152G>T	CCDS13501.1																																																																																				0.627	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		48	135	1	0	9.52127e-25	1	1.07255e-24	48	135				
FAT4	79633	broad.mit.edu	37	4	126239951	126239951	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr4:126239951G>C	ENST00000394329.3	+	1	2398	c.2385G>C	c.(2383-2385)caG>caC	p.Q795H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	795	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTCAGTCAGGTTGCCTACA	0.448																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2383-2385)caG>caC		FAT atypical cadherin 4							135.0	130.0	131.0					4																	126239951		2005	4174	6179	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239951G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2385G>C	4.37:g.126239951G>C	ENSP00000377862:p.Gln795His						p.Q795H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2398	+			795			Cadherin 8.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2385G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493685	0.44352	.	.	ENSG00000196159	ENST00000394329	T	0.01767	4.65	5.37	3.63	0.41609	Cadherin (2);Cadherin-like (1);	0.000000	0.33092	U	0.005284	T	0.03564	0.0102	L	0.46885	1.475	0.80722	D	1	P	0.43094	0.799	P	0.49502	0.613	T	0.62224	-0.6899	10	0.22706	T	0.39	.	12.0491	0.53498	0.1414:0.0:0.8586:0.0	.	795	Q6V0I7	FAT4_HUMAN	H	795	ENSP00000377862:Q795H	ENSP00000377862:Q795H	Q	+	3	2	FAT4	126459401	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.002000	0.57053	1.268000	0.44264	-0.140000	0.14226	CAG		0.448	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	105	0	0	0	1	0	16	105				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444857	81444857	+	RNA	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:81444857C>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGTGGTCCCTCACTGAGCTTC	0.627																																						ENST00000600376.1																			0																																																			101060691							g.chr10:81444857C>T																													10.37:g.81444857C>T						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.627	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	10	0	0	0	1	0	3	10				
CSMD3	114788	broad.mit.edu	37	8	113308161	113308161	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:113308161C>A	ENST00000297405.5	-	54	8759	c.8515G>T	c.(8515-8517)Gtt>Ttt	p.V2839F	CSMD3_ENST00000352409.3_Missense_Mutation_p.V2769F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2799F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2670F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2839	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2839F(1)|p.V2799F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATATACAACTGTGTCTCTA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.V2839F(1)|p.V2799F(1)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8515-8517)Gtt>Ttt		CUB and Sushi multiple domains 3							118.0	104.0	108.0					8																	113308161		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113308161C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8515G>T	8.37:g.113308161C>A	ENSP00000297405:p.Val2839Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.V2799F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2670F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2769F	p.V2839F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			54	8759	-			2839			Sushi 18.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8515G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470830	0.84533	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000006	D	0.89687	0.6787	H	0.95917	3.74	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.94	D;D;P	0.91635	0.999;0.999;0.749	D	0.92655	0.6136	10	0.66056	D	0.02	.	18.9718	0.92718	0.0:1.0:0.0:0.0	.	2670;2839;2799	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2799;2839;2109;2670;2769	ENSP00000345799:V2799F;ENSP00000297405:V2839F;ENSP00000341558:V2109F;ENSP00000412263:V2670F;ENSP00000343124:V2769F	ENSP00000297405:V2839F	V	-	1	0	CSMD3	113377337	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.062000	0.71155	2.480000	0.83734	0.655000	0.94253	GTT		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	37	1	0	0.000274275	1	0.000282196	9	37				
SLC4A9	83697	broad.mit.edu	37	5	139740338	139740338	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:139740338C>A	ENST00000230993.6	+	2	279	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	SLC4A9_ENST00000507527.1_Missense_Mutation_p.L82M|CTC-329D1.3_ENST00000520443.1_RNA|SLC4A9_ENST00000506757.2_Intron|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Intron	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	82					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGCATCTCTGCTCCTGGA	0.582																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(244-246)Ctg>Atg		solute carrier family 4, sodium bicarbonate cotransporter, member 9																																				SO:0001583	missense	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139740338C>A	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.244C>A	5.37:g.139740338C>A	ENSP00000230993:p.Leu82Met					SLC4A9_ENST00000432095.2_Intron|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000507527.1_Missense_Mutation_p.L82M|SLC4A9_ENST00000506757.2_Intron	p.L82M	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	279	+			82					B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	c.244C>A	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	C	6.775	0.511884	0.12944	.	.	ENSG00000113073	ENST00000230993;ENST00000507527	D;D	0.83250	-1.7;-1.7	3.92	1.12	0.20585	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	1.689150	0.04132	N	0.318182	T	0.73697	0.3620	.	.	.	0.09310	N	1	P	0.44090	0.826	B	0.37833	0.259	T	0.63060	-0.6721	9	0.34782	T	0.22	.	7.2398	0.26090	0.0:0.6824:0.0:0.3176	.	82	Q96Q91	B3A4_HUMAN	M	82	ENSP00000230993:L82M;ENSP00000427661:L82M	ENSP00000230993:L82M	L	+	1	2	SLC4A9	139720522	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.065000	0.11617	0.437000	0.26423	0.561000	0.74099	CTG		0.582	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		5	12	1	0	1.024e-07	1	1.10966e-07	5	12				
LPIN3	64900	broad.mit.edu	37	20	39978973	39978973	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr20:39978973G>C	ENST00000373257.3	+	7	1129	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	346					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCAAGTCATGGAGCTGGGCCA	0.632																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1036-1038)tgG>tgC		lipin 3							33.0	35.0	34.0					20																	39978973		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39978973G>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1038G>C	20.37:g.39978973G>C	ENSP00000362354:p.Trp346Cys						p.W346C	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			7	1129	+		Myeloproliferative disorder(115;0.000739)	346					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.1038G>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967365	0.34754	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	T	0.80393	-1.37	4.9	4.9	0.64082	.	1.228780	0.05402	N	0.540934	D	0.85440	0.5697	L	0.60455	1.87	0.58432	D	0.99999	P;D	0.57257	0.804;0.979	P;P	0.52267	0.694;0.533	T	0.76887	-0.2793	9	.	.	.	-2.7636	14.307	0.66391	0.0:0.0:1.0:0.0	.	347;346	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	C	346;10	ENSP00000362354:W346C	.	W	+	3	0	LPIN3	39412387	0.998000	0.40836	0.994000	0.49952	0.361000	0.29550	3.350000	0.52224	2.644000	0.89710	0.561000	0.74099	TGG		0.632	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		11	69	0	0	0	1	0	11	69				
CROCCP2	84809	broad.mit.edu	37	1	16953677	16953677	+	lincRNA	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:16953677T>G	ENST00000412962.1	-	0	584							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTTCTCGGCCTGCAGCATGTC	0.647																																						ENST00000412962.1																			0																																																			84809							g.chr1:16953677T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953677T>G														0	584	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		16	105	0	0	0	1	0	16	105				
CLK2	1196	broad.mit.edu	37	1	155238539	155238539	+	Silent	SNP	G	G	A	rs139020994		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:155238539G>A	ENST00000368361.4	-	4	762	c.447C>T	c.(445-447)ggC>ggT	p.G149G	CLK2_ENST00000536801.1_Silent_p.G149G|CLK2_ENST00000361168.5_Silent_p.G148G|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.G147G			P49760	CLK2_HUMAN	CDC-like kinase 2	149					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGATGAGGTGGCCCTCAGCGT	0.612								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(445-447)ggC>ggT	Other conserved DNA damage response genes	CDC-like kinase 2		G		0,4406		0,0,2203	143.0	115.0	124.0		444	4.0	1.0	1	dbSNP_134	124	1,8599		0,1,4299	no	coding-synonymous	CLK2	NM_003993.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		148/499	155238539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155238539G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.447C>T	1.37:g.155238539G>A						CLK2_ENST00000355560.4_Silent_p.G147G|CLK2_ENST00000536801.1_Silent_p.G149G|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.G148G	p.G149G			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	762	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		149					B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.447C>T																																																																																					0.612	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		16	108	0	0	0	1	0	16	108				
RAG1	5896	broad.mit.edu	37	11	36595444	36595444	+	Missense_Mutation	SNP	C	C	T	rs563167039		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr11:36595444C>T	ENST00000299440.5	+	2	702	c.590C>T	c.(589-591)cCg>cTg	p.P197L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	197	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTTTACTTCCCGAGGAACGTG	0.542									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(589-591)cCg>cTg		recombination activating gene 1							96.0	85.0	89.0					11																	36595444		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595444C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.590C>T	11.37:g.36595444C>T	ENSP00000299440:p.Pro197Leu						p.P197L	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	702	+	all_lung(20;0.226)	all_hematologic(20;0.107)	197			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.590C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035143	0.35893	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.40476	1.03;1.03	5.9	5.9	0.94986	.	0.246555	0.42172	D	0.000748	T	0.42539	0.1207	M	0.66378	2.025	0.80722	D	1	P	0.42161	0.772	B	0.29942	0.109	T	0.52480	-0.8570	10	0.87932	D	0	.	20.3342	0.98733	0.0:1.0:0.0:0.0	.	197	P15918	RAG1_HUMAN	L	197	ENSP00000434610:P197L;ENSP00000299440:P197L	ENSP00000299440:P197L	P	+	2	0	RAG1	36552020	0.999000	0.42202	0.807000	0.32361	0.007000	0.05969	4.480000	0.60243	2.822000	0.97130	0.650000	0.86243	CCG		0.542	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		6	55	0	0	0	1	0	6	55				
DIEXF	27042	broad.mit.edu	37	1	210015643	210015643	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:210015643G>A	ENST00000491415.2	+	9	1576	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	507					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACTACCCCTGGACTCACATGG	0.443																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1519-1521)Gac>Aac		digestive organ expansion factor homolog (zebrafish)							94.0	86.0	89.0					1																	210015643		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210015643G>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1519G>A	1.37:g.210015643G>A	ENSP00000419005:p.Asp507Asn						p.D507N	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			9	1576	+			507					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1519G>A	CCDS1493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.804754|5.804754	0.96967|0.96967	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.41065|.	1.01|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.079786|.	0.85682|.	D|.	0.000000|.	T|.	0.73110|.	0.3545|.	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.68353|.	0.957|.	T|.	0.66528|.	-0.5901|.	10|.	0.36615|.	T|.	0.2|.	-29.4137|-29.4137	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	Q68CQ4|.	DIEXF_HUMAN|.	N|X	507|187	ENSP00000419005:D507N|.	ENSP00000419005:D507N|.	D|W	+|+	1|3	0|0	DIEXF|DIEXF	208082266|208082266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.800000|7.800000	0.85949|0.85949	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.443	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		27	41	0	0	0	1	0	27	41				
AMN	81693	broad.mit.edu	37	14	103390078	103390078	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:103390078T>G	ENST00000299155.5	+	2	107	c.74T>G	c.(73-75)gTc>gGc	p.V25G		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	25					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTCTGGGTCCCCAACACG	0.687																																						ENST00000299155.5																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(73-75)gTc>gGc		amnion associated transmembrane protein	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						35.0	42.0	40.0					14																	103390078		2202	4298	6500	SO:0001583	missense	81693				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		g.chr14:103390078T>G	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.74T>G	14.37:g.103390078T>G	ENSP00000299155:p.Val25Gly						p.V25G	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN		Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	2	107	+			25					Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	c.74T>G	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366479	0.41902	.	.	ENSG00000166126	ENST00000299155	D	0.89415	-2.51	3.27	3.27	0.37495	.	0.060058	0.64402	U	0.000007	D	0.91171	0.7219	L	0.60455	1.87	0.48762	D	0.999707	D	0.71674	0.998	D	0.66351	0.943	D	0.90848	0.4729	10	0.87932	D	0	.	8.5672	0.33547	0.0:0.0:0.0:1.0	.	25	Q9BXJ7	AMNLS_HUMAN	G	25	ENSP00000299155:V25G	ENSP00000299155:V25G	V	+	2	0	AMN	102459831	0.656000	0.27385	1.000000	0.80357	0.175000	0.22909	0.865000	0.27940	1.441000	0.47550	0.397000	0.26171	GTC		0.687	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			45	74	0	0	0	1	0	45	74				
EYA4	2070	broad.mit.edu	37	6	133703554	133703554	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:133703554G>T	ENST00000367895.5	+	3	522	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	EYA4_ENST00000355286.6_Missense_Mutation_p.D20Y|EYA4_ENST00000430974.2_Missense_Mutation_p.D20Y|EYA4_ENST00000355167.3_Missense_Mutation_p.D20Y|EYA4_ENST00000452339.2_Missense_Mutation_p.D20Y|EYA4_ENST00000525849.1_Missense_Mutation_p.D20Y|EYA4_ENST00000431403.2_Missense_Mutation_p.D20Y|EYA4_ENST00000531901.1_Missense_Mutation_p.D20Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	20					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CACAGAATCAGATGTTTCACA	0.378																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(58-60)Gat>Tat		eyes absent homolog 4 (Drosophila)							154.0	169.0	164.0					6																	133703554		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133703554G>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.58G>T	6.37:g.133703554G>T	ENSP00000356870:p.Asp20Tyr					EYA4_ENST00000431403.2_Missense_Mutation_p.D20Y|EYA4_ENST00000430974.2_Missense_Mutation_p.D20Y|EYA4_ENST00000355286.6_Missense_Mutation_p.D20Y|EYA4_ENST00000525849.1_Missense_Mutation_p.D20Y|EYA4_ENST00000531901.1_Missense_Mutation_p.D20Y|EYA4_ENST00000355167.3_Missense_Mutation_p.D20Y|EYA4_ENST00000452339.2_Missense_Mutation_p.D20Y	p.D20Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	3	522	+	Colorectal(23;0.221)		20					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.58G>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912404	0.52439	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.90955	-2.71;-2.66;-2.75;-2.75;-2.74;-2.76;-2.74;-2.75	5.92	5.92	0.95590	.	0.187023	0.46758	D	0.000268	D	0.89911	0.6852	N	0.14661	0.345	0.37014	D	0.895867	B;D;D;D;B;B	0.89917	0.23;1.0;1.0;1.0;0.23;0.005	B;D;D;D;B;B	0.83275	0.106;0.996;0.996;0.996;0.073;0.014	D	0.92131	0.5712	10	0.66056	D	0.02	-4.3602	18.487	0.90833	0.0:0.0:1.0:0.0	.	20;20;20;20;20;20	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	Y	20	ENSP00000395916:D20Y;ENSP00000388670:D20Y;ENSP00000356870:D20Y;ENSP00000347294:D20Y;ENSP00000347434:D20Y;ENSP00000432770:D20Y;ENSP00000433219:D20Y;ENSP00000404558:D20Y	ENSP00000347294:D20Y	D	+	1	0	EYA4	133745247	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.950000	0.63603	2.809000	0.96659	0.650000	0.86243	GAT		0.378	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		19	113	1	0	0.000132079	1	0.000137381	19	113				
MLLT4	4301	broad.mit.edu	37	6	168352811	168352811	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:168352811G>A	ENST00000447894.2	+	29	4756	c.4756G>A	c.(4756-4758)Gat>Aat	p.D1586N	MLLT4_ENST00000400822.3_Missense_Mutation_p.D1585N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1593N|MLLT4_ENST00000366806.2_Missense_Mutation_p.D1586N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1586N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1586N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1569N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1586	Asp/Glu-rich (acidic).				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ggaggaggacgatgatgtgga	0.587			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4756-4758)Gat>Aat		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							181.0	153.0	163.0					6																	168352811		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352811G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4756G>A	6.37:g.168352811G>A	ENSP00000404595:p.Asp1586Asn					MLLT4_ENST00000392112.1_Missense_Mutation_p.D1569N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1593N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1586N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1586N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1586N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1585N	p.D1586N			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4898	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1586			Asp/Glu-rich (acidic).		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4756G>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.342283	0.81911	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.41400	3.77;1.0;3.89;1.0;1.0;1.01;1.0	5.34	5.34	0.76211	.	0.277504	0.33253	N	0.005116	T	0.34513	0.0900	L	0.51422	1.61	0.58432	D	0.999997	P;D;P;P	0.55172	0.896;0.97;0.921;0.821	B;P;B;B	0.44518	0.203;0.452;0.277;0.277	T	0.28586	-1.0039	10	0.59425	D	0.04	-3.934	19.0724	0.93145	0.0:0.0:1.0:0.0	.	1586;1585;1586;1570	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	N	1586;1593;1586;1586;1569;1586;1585;1586	ENSP00000341118:D1586N;ENSP00000252692:D1593N;ENSP00000375956:D1586N;ENSP00000355771:D1586N;ENSP00000375960:D1569N;ENSP00000383623:D1585N;ENSP00000404595:D1586N	ENSP00000345834:D1586N	D	+	1	0	MLLT4	168095660	1.000000	0.71417	0.271000	0.24616	0.868000	0.49771	8.986000	0.93492	2.492000	0.84095	0.655000	0.94253	GAT		0.587	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		20	132	0	0	0	1	0	20	132				
ZZEF1	23140	broad.mit.edu	37	17	3937554	3937554	+	Silent	SNP	G	G	A	rs139607519		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:3937554G>A	ENST00000381638.2	-	40	6463	c.6339C>T	c.(6337-6339)caC>caT	p.H2113H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2113							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGGAAGGACGTGCTCCAGGT	0.478																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6337-6339)caC>caT		zinc finger, ZZ-type with EF-hand domain 1		G		0,4406		0,0,2203	74.0	63.0	67.0		6339	-8.4	0.5	17	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZZEF1	NM_015113.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		2113/2962	3937554	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3937554G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6339C>T	17.37:g.3937554G>A							p.H2113H	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			40	6463	-			2113					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.6339C>T	CCDS11043.1																																																																																				0.478	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		13	48	0	0	0	1	0	13	48				
MYO7B	4648	broad.mit.edu	37	2	128383016	128383016	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:128383016T>C	ENST00000409816.2	+	29	4075	c.4043T>C	c.(4042-4044)gTc>gCc	p.V1348A	RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Missense_Mutation_p.V1348A|MYO7B_ENST00000409090.1_Missense_Mutation_p.V201A|MYO7B_ENST00000428314.1_Missense_Mutation_p.V1348A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1348	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCAAGGCTGTCCAGGAGCTG	0.682																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(4042-4044)gTc>gCc		myosin VIIB							23.0	29.0	27.0					2																	128383016		2118	4235	6353	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128383016T>C		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4043T>C	2.37:g.128383016T>C	ENSP00000386461:p.Val1348Ala					MYO7B_ENST00000409090.1_Missense_Mutation_p.V201A|MYO7B_ENST00000428314.1_Missense_Mutation_p.V1348A|MYO7B_ENST00000409816.2_Missense_Mutation_p.V1348A	p.V1348A			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	30	4096	+	Colorectal(110;0.1)		1348			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4043T>C	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	t	16.21	3.058587	0.55325	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.15	5.15	0.70609	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.636496	0.16080	N	0.230563	T	0.69441	0.3111	L	0.48642	1.525	0.30266	N	0.792682	B	0.23937	0.094	B	0.22386	0.039	T	0.66618	-0.5878	10	0.37606	T	0.19	.	15.2591	0.73606	0.0:0.0:0.0:1.0	.	1348	Q6PIF6	MYO7B_HUMAN	A	1348;1348;201;1348;201	ENSP00000374175:V1348A;ENSP00000415090:V1348A;ENSP00000386461:V1348A;ENSP00000386850:V201A	ENSP00000272666:V201A	V	+	2	0	MYO7B	128099486	0.997000	0.39634	0.899000	0.35326	0.813000	0.45954	4.232000	0.58645	2.048000	0.60808	0.459000	0.35465	GTC		0.682	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	50	0	0	0	1	0	3	50				
SERPINA13P	388007	broad.mit.edu	37	14	95107759	95107759	+	RNA	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr14:95107759C>T	ENST00000469935.1	+	0	364					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATTCTGGCCCCCAGGACAGCA	0.577																																						ENST00000469935.1																			0																				42.0	35.0	37.0					14																	95107759		2203	4300	6503			388007							g.chr14:95107759C>T	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95107759C>T								NR_015340.1						0	364	+									RNA	SNP	ENST00000469935.1	37																																																																																						0.577	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		5	8	0	0	0	1	0	5	8				
ACAA1	30	broad.mit.edu	37	3	38180479	38180479	+	5'Flank	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:38180479G>A	ENST00000333167.8	-	0	0				ACAA1_ENST00000544624.1_5'Flank|ACAA1_ENST00000301810.7_5'Flank|ACAA1_ENST00000450296.1_5'Flank|MYD88_ENST00000396334.3_Silent_p.L109L|ACAA1_ENST00000444607.2_5'Flank|MYD88_ENST00000495303.1_Silent_p.L109L|MYD88_ENST00000424893.1_Silent_p.L109L|MYD88_ENST00000417037.2_Silent_p.L109L|MYD88_ENST00000443433.2_Silent_p.L109L	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TTACCAAGCTGGGCCGCGACG	0.677																																						ENST00000417037.2										Mis							ABC-DLBCL		0				breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(325-327)ctG>ctA		myeloid differentiation primary response 88							34.0	39.0	37.0					3																	38180479		2203	4299	6502	SO:0001631	upstream_gene_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38180479G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38180479G>A	Exception_encountered					MYD88_ENST00000396334.3_Silent_p.L109L|MYD88_ENST00000495303.1_Silent_p.L109L|MYD88_ENST00000424893.1_Silent_p.L109L|MYD88_ENST00000443433.2_Silent_p.L109L	p.L109L	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	511	+			96			Death.		G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.327G>A	CCDS2673.1																																																																																				0.677	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		11	51	0	0	0	1	0	11	51				
TNS4	84951	broad.mit.edu	37	17	38636060	38636060	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:38636060C>T	ENST00000254051.6	-	10	1934	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	592	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCAGGGTCTCCACGCTCACTG	0.647																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1774-1776)gtG>gtA		tensin 4							74.0	57.0	62.0					17																	38636060		2203	4299	6502	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38636060C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1776G>A	17.37:g.38636060C>T							p.V592V	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		10	1934	-		Breast(137;0.000496)	592			Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1776G>A	CCDS11368.1																																																																																				0.647	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		5	42	0	0	0	1	0	5	42				
EFHC1	114327	broad.mit.edu	37	6	52343897	52343897	+	Silent	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:52343897C>T	ENST00000371068.5	+	8	1444	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	EFHC1_ENST00000538167.1_Silent_p.D428D|EFHC1_ENST00000433625.2_Silent_p.D356D	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	447	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TAGCTACCGACATGATCAGTA	0.433																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(1339-1341)gaC>gaT		EF-hand domain (C-terminal) containing 1							136.0	127.0	130.0					6																	52343897		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52343897C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1341C>T	6.37:g.52343897C>T						EFHC1_ENST00000538167.1_Silent_p.D428D|EFHC1_ENST00000433625.2_Silent_p.D356D	p.D447D	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			8	1444	+	Lung NSC(77;0.109)		447			DM10 3.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.1341C>T	CCDS4942.1																																																																																				0.433	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		25	155	0	0	0	1	0	25	155				
KIF12	113220	broad.mit.edu	37	9	116857599	116857599	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:116857599G>A	ENST00000374118.3	-	7	732	c.495C>T	c.(493-495)tcC>tcT	p.S165S	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	298	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCAGCAGCAGGGAGATGCAGT	0.617																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(493-495)tcC>tcT		kinesin family member 12							39.0	32.0	35.0					9																	116857599		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116857599G>A	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.495C>T	9.37:g.116857599G>A						KIF12_ENST00000473174.1_5'UTR	p.S165S	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			7	732	-			298			Kinesin-motor.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.495C>T	CCDS6801.1																																																																																				0.617	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		8	42	0	0	0	1	0	8	42				
HYDIN	54768	broad.mit.edu	37	16	70841732	70841732	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:70841732G>T	ENST00000393567.2	-	86	15267	c.15117C>A	c.(15115-15117)atC>atA	p.I5039I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5039					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAAGGGGATGATTATGCTGT	0.547																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15115-15117)atC>atA		HYDIN, axonemal central pair apparatus protein							106.0	110.0	108.0					16																	70841732		2025	4190	6215	SO:0001819	synonymous_variant	54768							g.chr16:70841732G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15117C>A	16.37:g.70841732G>T							p.I5039I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15267	-		Ovarian(137;0.0654)	5039					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.15117C>A	CCDS59269.1																																																																																				0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			24	77	1	0	5.35356e-11	1	5.84584e-11	24	77				
NALCN	259232	broad.mit.edu	37	13	101735483	101735483	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr13:101735483G>A	ENST00000251127.6	-	32	3731	c.3650C>T	c.(3649-3651)gCa>gTa	p.A1217V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1217					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACGAGTAATGCGATTGTCCT	0.423																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3649-3651)gCa>gTa		sodium leak channel, non-selective							141.0	138.0	139.0					13																	101735483		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735483G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3650C>T	13.37:g.101735483G>A	ENSP00000251127:p.Ala1217Val						p.A1217V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			32	3731	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1217					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3650C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.579104	0.65878	.	.	ENSG00000102452	ENST00000251127	D	0.97138	-4.26	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	L	0.58810	1.83	0.80722	D	1	P	0.38617	0.64	B	0.41088	0.347	D	0.95111	0.8238	10	0.26408	T	0.33	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	1217	Q8IZF0	NALCN_HUMAN	V	1217	ENSP00000251127:A1217V	ENSP00000251127:A1217V	A	-	2	0	NALCN	100533484	1.000000	0.71417	0.537000	0.28052	0.354000	0.29330	9.476000	0.97823	2.672000	0.90937	0.555000	0.69702	GCA		0.423	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		5	55	0	0	0	1	0	5	55				
CDC14B	8555	broad.mit.edu	37	9	99314080	99314080	+	Silent	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr9:99314080G>A	ENST00000375241.1	-	5	946	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CDC14B_ENST00000265659.2_Silent_p.F165F|CDC14B_ENST00000375236.1_Silent_p.F165F|CDC14B_ENST00000375240.3_Silent_p.F165F|CDC14B_ENST00000463569.1_Silent_p.F165F|CDC14B_ENST00000375242.3_Silent_p.F128F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	165	A.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				ATATTTACCTGAAAGGAATAT	0.323																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(493-495)ttC>ttT		cell division cycle 14B							58.0	63.0	61.0					9																	99314080		2202	4299	6501	SO:0001819	synonymous_variant	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99314080G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.495C>T	9.37:g.99314080G>A						CDC14B_ENST00000463569.1_Silent_p.F165F|CDC14B_ENST00000265659.2_Silent_p.F165F|CDC14B_ENST00000375236.1_Silent_p.F165F|CDC14B_ENST00000375242.3_Silent_p.F128F|CDC14B_ENST00000375240.3_Silent_p.F165F	p.F165F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			5	946	-		Acute lymphoblastic leukemia(62;0.0559)	165			A.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Silent	SNP	ENST00000375241.1	37	c.495C>T	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246651	0.39697	.	.	ENSG00000081377	ENST00000452280	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9743	12.9447	0.58365	0.0:0.0:1.0:0.0	.	.	.	.	X	143	.	.	Q	-	1	0	CDC14B	98353901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.797000	0.62503	2.526000	0.85167	0.650000	0.86243	CAG		0.323	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		4	34	0	0	0	1	0	4	34				
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	lincRNA	SNP	A	A	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:1593386A>C	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTGGCCATTCACGTGCCTCAG	0.597																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593386A>C																													5.37:g.1593386A>C														0	239	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.597	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			5	89	0	0	0	1	0	5	89				
DMD	1756	broad.mit.edu	37	X	32235084	32235084	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:32235084C>G	ENST00000357033.4	-	44	6593	c.6387G>C	c.(6385-6387)aaG>aaC	p.K2129N	DMD_ENST00000378677.2_Missense_Mutation_p.K2125N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2129					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATTTGTGTCTTTCTGAGAA	0.348																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6385-6387)aaG>aaC		dystrophin							76.0	63.0	67.0					X																	32235084		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32235084C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6387G>C	X.37:g.32235084C>G	ENSP00000354923:p.Lys2129Asn					DMD_ENST00000378677.2_Missense_Mutation_p.K2125N	p.K2129N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			44	6593	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2129					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6387G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126493	0.37533	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49432	0.78;0.78	5.62	4.75	0.60458	.	0.388507	0.17894	U	0.158418	T	0.44159	0.1280	L	0.36672	1.1	0.80722	D	1	B;P;P;P;B;B	0.45634	0.274;0.835;0.473;0.863;0.126;0.126	B;P;B;P;B;B	0.51833	0.05;0.553;0.136;0.681;0.043;0.029	T	0.23940	-1.0174	10	0.26408	T	0.33	.	5.7758	0.18279	0.0:0.7645:0.0:0.2355	.	788;2121;2129;2125;788;785	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	N	2121;788;785;2125;2129;2129;2006	ENSP00000367948:K2125N;ENSP00000354923:K2129N	ENSP00000354923:K2129N	K	-	3	2	DMD	32145005	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	0.676000	0.25247	2.351000	0.79841	0.422000	0.28245	AAG		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	6	0	0	0	1	0	5	6				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	100130935							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	109	1	0	0.217242	1	0.218007	5	109				
STON1	11037	broad.mit.edu	37	2	48809492	48809492	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr2:48809492G>A	ENST00000406226.1	+	3	1915	c.1720G>A	c.(1720-1722)Gtc>Atc	p.V574I	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V574I|STON1_ENST00000309835.3_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V574I|STON1_ENST00000404752.1_Missense_Mutation_p.V574I	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	574	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTTTCCTGTCCCATCGCA	0.498																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1720-1722)Gtc>Atc		stonin 1							121.0	121.0	121.0					2																	48809492		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48809492G>A	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1720G>A	2.37:g.48809492G>A	ENSP00000384615:p.Val574Ile					STON1_ENST00000406226.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V574I|STON1_ENST00000404752.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V574I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V574I	p.V574I					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1730	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1720G>A	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934541	0.52866	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.65	5.65	0.86999	Clathrin adaptor, mu subunit, C-terminal (3);	0.054689	0.64402	D	0.000001	T	0.42787	0.1218	L	0.41415	1.275	0.41615	D	0.988933	P;P;D	0.63046	0.921;0.905;0.992	P;P;D	0.67548	0.655;0.805;0.952	T	0.02053	-1.1222	10	0.28530	T	0.3	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	574;574;574	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	I	574	ENSP00000385273:V574I;ENSP00000384615:V574I;ENSP00000310969:V574I;ENSP00000385499:V574I;ENSP00000385701:V574I;ENSP00000378236:V574I;ENSP00000311493:V574I;ENSP00000378234:V574I	ENSP00000310969:V574I	V	+	1	0	STON1-GTF2A1L;STON1	48662996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.430000	0.66501	2.941000	0.99782	0.655000	0.94253	GTC		0.498	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		21	105	0	0	0	1	0	21	105				
DBR1	51163	broad.mit.edu	37	3	137882255	137882255	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:137882255C>T	ENST00000260803.4	-	7	1030	c.877G>A	c.(877-879)Gat>Aat	p.D293N	DBR1_ENST00000505015.2_Missense_Mutation_p.D59N	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	293					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATAAGATCATCCGTAGCCCTG	0.408																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(877-879)Gat>Aat		debranching RNA lariats 1							108.0	103.0	104.0					3																	137882255		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137882255C>T	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.877G>A	3.37:g.137882255C>T	ENSP00000260803:p.Asp293Asn					DBR1_ENST00000505015.2_Missense_Mutation_p.D59N	p.D293N	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			7	1030	-			293					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.877G>A	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.495678	0.01009	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.39056	1.1	5.89	-2.92	0.05615	Lariat debranching enzyme, C-terminal (1);	0.299206	0.39985	N	0.001210	T	0.10937	0.0267	N	0.00980	-1.08	0.21762	N	0.999559	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.31888	-0.9927	10	0.02654	T	1	-10.3974	11.9956	0.53201	0.0:0.3592:0.0:0.6408	.	293;61	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	N	293;59	ENSP00000260803:D293N	ENSP00000260803:D293N	D	-	1	0	DBR1	139364945	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	-0.314000	0.08092	-0.842000	0.04195	-0.880000	0.02959	GAT		0.408	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			9	49	0	0	0	1	0	9	49				
ADCY2	108	broad.mit.edu	37	5	7626323	7626323	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr5:7626323G>C	ENST00000338316.4	+	4	703	c.614G>C	c.(613-615)gGa>gCa	p.G205A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	205				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AACCTGGCGGGAGCCTACCAT	0.443																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(613-615)gGa>gCa		adenylate cyclase 2 (brain)							160.0	155.0	156.0					5																	7626323		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626323G>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.614G>C	5.37:g.7626323G>C	ENSP00000342952:p.Gly205Ala						p.G205A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			4	703	+			205	VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).				B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.614G>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446540	0.84101	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	D	0.82619	-1.63	5.09	5.09	0.68999	.	0.128393	0.53938	D	0.000047	D	0.92221	0.7533	M	0.89840	3.065	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.93684	0.7001	10	0.87932	D	0	.	16.0304	0.80574	0.0:0.0:1.0:0.0	.	205	Q08462	ADCY2_HUMAN	A	205;56	ENSP00000342952:G205A	ENSP00000342952:G205A	G	+	2	0	ADCY2	7679323	1.000000	0.71417	0.525000	0.27900	0.894000	0.52154	9.016000	0.93645	2.520000	0.84964	0.655000	0.94253	GGA		0.443	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		45	159	0	0	0	1	0	45	159				
ZNF277	11179	broad.mit.edu	37	7	111846846	111846846	+	Silent	SNP	G	G	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:111846846G>T	ENST00000361822.3	+	1	204	c.75G>T	c.(73-75)ggG>ggT	p.G25G	ZNF277_ENST00000450657.1_Silent_p.G25G|DOCK4_ENST00000476846.1_5'Flank|DOCK4_ENST00000428084.1_5'Flank|DOCK4_ENST00000437633.1_5'Flank|ZNF277_ENST00000421043.1_Silent_p.G25G	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	25					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACAGTCGGGGGTGTAGGTT	0.607																																						ENST00000421043.1																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(73-75)ggG>ggT		zinc finger protein 277							38.0	41.0	40.0					7																	111846846		2203	4300	6503	SO:0001819	synonymous_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111846846G>T	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.75G>T	7.37:g.111846846G>T						ZNF277_ENST00000361822.3_Silent_p.G25G|ZNF277_ENST00000450657.1_Silent_p.G25G	p.G25G			Q9NRM2	ZN277_HUMAN			1	95	+			25					Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	c.75G>T	CCDS5755.2																																																																																				0.607	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		7	85	1	0	0.0477658	1	0.0481033	7	85				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	9						4	9	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134885840	134885840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr3:134885840delC	ENST00000398015.3	+	9	2121	c.1751delC	c.(1750-1752)acafs	p.T584fs	EPHB1_ENST00000493838.1_Frame_Shift_Del_p.T145fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	584					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATTACAGCACAGGCCGAGGT	0.547																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1750-1752)aafs		EPH receptor B1							155.0	162.0	160.0					3																	134885840		1915	4130	6045	SO:0001589	frameshift_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885840delC	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1751delC	3.37:g.134885840delC	ENSP00000381097:p.Thr584fs					EPHB1_ENST00000493838.1_Frame_Shift_Del_p.T145fs	p.T584fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			9	2121	+			584					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Frame_Shift_Del	DEL	ENST00000398015.3	37	c.1751delC	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		45	571						45	571	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	7	687						7	687	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168366514	168366514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr6:168366514delG	ENST00000447894.2	+	31	5025	c.5025delG	c.(5023-5025)ttgfs	p.L1676fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.L1686fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.L1683fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.L1676fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.L1659fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1676					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGCGCAGGTTGCTGGAGCCCG	0.731			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(5023-5025)ttfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							4.0	5.0	5.0					6																	168366514		1749	3929	5678	SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168366514delG	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.5025delG	6.37:g.168366514delG	ENSP00000404595:p.Leu1676fs					MLLT4_ENST00000400822.3_Frame_Shift_Del_p.L1686fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.L1659fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.L1683fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.L1676fs	p.L1676fs			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	32	5167	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1676					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37	c.5025delG																																																																																					0.731	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		2	4						2	4	---	---	---	---
NT5C3A	51251	broad.mit.edu	37	7	33059332	33059333	+	Frame_Shift_Ins	INS	-	-	A	rs143874512		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr7:33059332_33059333insA	ENST00000242210.7	-	6	535_536	c.459_460insT	c.(457-462)tatactfs	p.T154fs	NT5C3A_ENST00000409467.1_Frame_Shift_Ins_p.T103fs|NT5C3A_ENST00000381626.2_Frame_Shift_Ins_p.T103fs|NT5C3A_ENST00000409787.1_Frame_Shift_Ins_p.T115fs|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Frame_Shift_Ins_p.T115fs|NT5C3A_ENST00000610140.1_Frame_Shift_Ins_p.T149fs|NT5C3A_ENST00000396152.2_Frame_Shift_Ins_p.T115fs	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	154					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TGTGATTTAGTATACCTGGAGT	0.312																																						ENST00000396152.2																			0											c.(340-345)tactaafs		5'-nucleotidase, cytosolic IIIA																																				SO:0001589	frameshift_variant	51251							g.chr7:33059332_33059333insA	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.460dupT	7.37:g.33059333_33059333dupA	ENSP00000242210:p.Thr154fs					NT5C3A_ENST00000409467.1_Frame_Shift_Ins_p.*103fs|NT5C3A_ENST00000405342.1_Frame_Shift_Ins_p.*115fs|NT5C3A_ENST00000242210.7_Frame_Shift_Ins_p.*154fs|NT5C3A_ENST00000409787.1_Frame_Shift_Ins_p.*115fs|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Frame_Shift_Ins_p.*103fs	p.*115fs	NM_016489.12	NP_057573.2					7	644_645	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Frame_Shift_Ins	INS	ENST00000242210.7	37	c.342_343insT	CCDS34616.1																																																																																				0.312	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		21	34						21	34	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:67488452_67488453insT	ENST00000522677.3	-	10	1669_1670	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1258-1260)aacfs		v-myb avian myeloblastosis viral oncogene homolog-like 1																																				SO:0001589	frameshift_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488452_67488453insT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1260dupA	8.37:g.67488460_67488460dupT	ENSP00000429633:p.Asn420fs					MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs	p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1669_1670	-			420			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Frame_Shift_Ins	INS	ENST00000522677.3	37	c.1259_1260insA	CCDS47867.1																																																																																				0.406	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		8	637						8	637	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		8	1185						8	1185	---	---	---	---
KIAA1279	26128	broad.mit.edu	37	10	70770669	70770673	+	Frame_Shift_Del	DEL	AGGAG	AGGAG	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:70770669_70770673delAGGAG	ENST00000361983.4	+	6	990_994	c.888_892delAGGAG	c.(886-894)gaaggagaafs	p.EGE296fs	KIAA1279_ENST00000481912.1_3'UTR	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	296					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGAAGCTGAAGGAGAAGTGCCAGA	0.376																																						ENST00000361983.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						c.(886-894)gaaafs		KIAA1279																																				SO:0001589	frameshift_variant	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70770669_70770673delAGGAG	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.888_892delAGGAG	10.37:g.70770669_70770673delAGGAG	ENSP00000354848:p.Glu296fs					KIAA1279_ENST00000481912.1_3'UTR	p.EGE296fs	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN			6	990_994	+			296					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Frame_Shift_Del	DEL	ENST00000361983.4	37	c.888_892delAGGAG	CCDS7284.1																																																																																				0.376	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		13	67						13	67	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	369						9	369	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91565451	91565451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr15:91565451delG	ENST00000333371.3	-	1	382	c.29delC	c.(28-30)cctfs	p.P10fs	AC068831.10_ENST00000501381.3_RNA|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535843.1_5'UTR|AC068831.10_ENST00000557804.1_RNA|AC068831.10_ENST00000417221.4_RNA|VPS33B_ENST00000535906.1_Frame_Shift_Del_p.P10fs|AC068831.10_ENST00000556904.1_RNA	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	10					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGCAGCTCAGGGGCGTCCGG	0.632																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(28-30)ctfs		vacuolar protein sorting 33 homolog B (yeast)							19.0	16.0	17.0					15																	91565451		2192	4290	6482	SO:0001589	frameshift_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91565451delG	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.29delC	15.37:g.91565451delG	ENSP00000327650:p.Pro10fs					VPS33B_ENST00000535906.1_Frame_Shift_Del_p.P10fs|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR	p.P10fs	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			1	382	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		10					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Frame_Shift_Del	DEL	ENST00000333371.3	37	c.29delC	CCDS10369.1																																																																																				0.632	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		2	4						2	4	---	---	---	---
EXOC3L1	283849	broad.mit.edu	37	16	67219368	67219385	+	In_Frame_Del	DEL	CCAGCTGCAGGACAGACA	CCAGCTGCAGGACAGACA	-	rs151131184|rs141493416|rs554282272		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr16:67219368_67219385delCCAGCTGCAGGACAGACA	ENST00000314586.6	-	10	1745_1762	c.1505_1522delTGTCTGTCCTGCAGCTGG	c.(1504-1524)gtgtctgtcctgcagctggac>gac	p.VSVLQL502del	KIAA0895L_ENST00000290881.7_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	502					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGCGCCCCGTCCAGCTGCAGGACAGACACTGAGGAGCT	0.651											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1504-1524)gac>g		exocyst complex component 3-like 1																																				SO:0001651	inframe_deletion	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67219368_67219385delCCAGCTGCAGGACAGACA	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1505_1522delTGTCTGTCCTGCAGCTGG	16.37:g.67219368_67219385delCCAGCTGCAGGACAGACA	ENSP00000325674:p.Val502_Leu507del		OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097		p.VSVLQLD502del	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			10	1745_1762	-			502					A8K7I9|Q8NAD2|Q8TEN2	In_Frame_Del	DEL	ENST00000314586.6	37	c.1505_1522delTGTCTGTCCTGCAGCTGG	CCDS10832.1																																																																																				0.651	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		14	176						14	176	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579419	7579420	+	Frame_Shift_Ins	INS	-	-	GG	rs587783062		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:7579419_7579420insGG	ENST00000269305.4	-	4	456_457	c.267_268insCC	c.(265-270)ccctccfs	p.S90fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S90fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S90fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S90fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S90fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S90fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.A88fs*52(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGGGCCAGGAGGGGGCTGGTG	0.629		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		33	Deletion - Frameshift(16)|Whole gene deletion(8)|Insertion - Frameshift(6)|Deletion - In frame(3)	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.A88fs*52(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)	liver(7)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|prostate(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(265-270)cccctgfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579419_7579420insGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.266_267dupCC	17.37:g.7579422_7579423dupGG	ENSP00000269305:p.Ser90fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L90fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L90fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L90fs	p.L90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	399_400	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	90		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.267_268insCC	CCDS11118.1																																																																																				0.629	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	66						47	66	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		8	142						8	142	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34710734	34710735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:34710734_34710735insT	ENST00000433627.5	+	8	1163_1164	c.1088_1089insT	c.(1087-1092)tatgacfs	p.D364fs	LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.D323fs|LSM14A_ENST00000544216.3_Frame_Shift_Ins_p.D364fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	364					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATTGCTATTATGACAAAACTA	0.332																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(1087-1089)tgafs		LSM14A, SCD6 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710734_34710735insT	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1089dupT	19.37:g.34710735_34710735dupT	ENSP00000413964:p.Asp364fs					LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.*322fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.*363fs	p.*363fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			8	1165_1166	+	Esophageal squamous(110;0.162)		363					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Ins	INS	ENST00000433627.5	37	c.1088_1089insT	CCDS46040.1																																																																																				0.332	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		8	43						8	43	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1030-1032)del		family with sequence similarity 98, member C				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del					FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del	p.K349del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		14	239						14	239	---	---	---	---
MAPK12	6300	broad.mit.edu	37	22	50699899	50699899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A623-01A-11D-A28R-08	TCGA-F7-A623-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	500e8c16-4ecd-4c60-8197-379728e694b6	72190836-5905-4f09-a040-6daa6566794c	g.chr22:50699899delG	ENST00000215659.8	-	1	355	c.40delC	c.(40-42)cagfs	p.Q14fs	MAPK12_ENST00000395780.1_5'Flank|MAPK12_ENST00000395778.3_Frame_Shift_Del_p.Q14fs|MAPK12_ENST00000497036.1_5'Flank	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	14					cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCACCTCCTGGCGGTAAAAG	0.766																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(40-42)agfs		mitogen-activated protein kinase 12							3.0	3.0	3.0					22																	50699899		1641	3389	5030	SO:0001589	frameshift_variant	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50699899delG	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.40delC	22.37:g.50699899delG	ENSP00000215659:p.Gln14fs					MAPK12_ENST00000395778.3_Frame_Shift_Del_p.Q14fs	p.Q14fs	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	355	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	14					Q14260|Q6IC53|Q99588|Q99672	Frame_Shift_Del	DEL	ENST00000215659.8	37	c.40delC	CCDS14089.1																																																																																				0.766	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		2	4						2	4	---	---	---	---
