#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EYA3	2140	broad.mit.edu	37	1	28339771	28339771	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:28339771T>C	ENST00000373871.3	-	9	860	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	EYA3_ENST00000373863.3_Missense_Mutation_p.Q161R|EYA3_ENST00000540618.1_Missense_Mutation_p.Q161R|EYA3_ENST00000436342.2_Missense_Mutation_p.Q81R|EYA3_ENST00000545175.1_Missense_Mutation_p.Q154R|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.Q51R	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	207					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGCCTGGTACTGATTCTGACC	0.463																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(619-621)cAg>cGg		eyes absent homolog 3 (Drosophila)							135.0	125.0	128.0					1																	28339771		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28339771T>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.620A>G	1.37:g.28339771T>C	ENSP00000362978:p.Gln207Arg		Somatic				EYA3_ENST00000436342.2_Missense_Mutation_p.Q81R|EYA3_ENST00000545175.1_Missense_Mutation_p.Q154R|EYA3_ENST00000373863.3_Missense_Mutation_p.Q161R|EYA3_ENST00000373864.1_Missense_Mutation_p.Q51R|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.Q161R	p.Q207R	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	WXS	Illumina GAIIx	Phase_I	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	9	860	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	207					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.620A>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742727	0.89573	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.94417	-3.12;-3.41;-3.42;-1.96;-1.96;-1.96	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	M	0.71206	2.165	0.80722	D	1	D;D;D	0.71674	0.981;0.994;0.998	D;D;D	0.79784	0.969;0.985;0.993	D	0.96997	0.9726	10	0.56958	D	0.05	-17.8503	15.8132	0.78581	0.0:0.0:0.0:1.0	.	161;161;207	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	R	207;81;51;161;154;161	ENSP00000362978:Q207R;ENSP00000405587:Q81R;ENSP00000362971:Q51R;ENSP00000442558:Q161R;ENSP00000442280:Q154R;ENSP00000362970:Q161R	ENSP00000362970:Q161R	Q	-	2	0	EYA3	28212358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.691000	0.61738	2.196000	0.70406	0.533000	0.62120	CAG		0.463	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		34	40	0	0	0	1	0	34	40				
EVC	2121	broad.mit.edu	37	4	5735137	5735137	+	Missense_Mutation	SNP	C	C	T	rs201583621		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr4:5735137C>T	ENST00000264956.6	+	5	861	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EVC_ENST00000382674.2_Missense_Mutation_p.T226M|EVC_ENST00000509451.1_Missense_Mutation_p.T226M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	226					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T226M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CATTTGGACACGGCACTGAGG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		21258	0.0		0.0	False		,,,				2504	0.001					ENST00000382674.2																			1	Substitution - Missense(1)	p.T226M(1)	endometrium(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(676-678)aCg>aTg		Ellis van Creveld syndrome		C	MET/THR	0,4406		0,0,2203	307.0	283.0	291.0		677	2.9	0.0	4		291	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EVC	NM_153717.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	226/993	5735137	2,13004	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5735137C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.677C>T	4.37:g.5735137C>T	ENSP00000264956:p.Thr226Met		Somatic				EVC_ENST00000509451.1_Missense_Mutation_p.T226M|EVC_ENST00000264956.6_Missense_Mutation_p.T226M	p.T226M			WXS	Illumina GAIIx	Phase_I	P57679	EVC_HUMAN			5	861	+		Myeloproliferative disorder(84;0.117)	226						Missense_Mutation	SNP	ENST00000264956.6	37	c.677C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.021972	0.07634	0.0	2.33E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.54479	0.57;0.57;0.61	4.73	2.88	0.33553	.	0.947586	0.08861	N	0.883086	T	0.37265	0.0997	N	0.19112	0.55	0.09310	N	1	B	0.25719	0.132	B	0.19148	0.024	T	0.26744	-1.0094	10	0.52906	T	0.07	.	9.2585	0.37597	0.1429:0.7772:0.0:0.0798	.	226	P57679	EVC_HUMAN	M	226	ENSP00000264956:T226M;ENSP00000372120:T226M;ENSP00000426774:T226M	ENSP00000264956:T226M	T	+	2	0	EVC	5786038	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	0.536000	0.23129	1.121000	0.41925	-0.143000	0.13931	ACG		0.478	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			42	221	0	0	0	1	0	42	221				
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	Missense_Mutation	SNP	C	C	T	rs28435564	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr12:11420458C>T	ENST00000279573.7	-	3	860	c.725G>A	c.(724-726)cGt>cAt	p.R242H	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	179	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612													c|||	1688	0.337061	0.1861	0.4251	5008	,	,		4544	0.3571		0.4453	False		,,,				2504	0.3466					ENST00000279573.7																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25						c.(724-726)cGt>cAt		proline-rich protein BstNI subfamily 3							9.0	4.0	6.0					12																	11420458		1057	1581	2638	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420458C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.725G>A	12.37:g.11420458C>T	ENSP00000279573:p.Arg242His		Somatic				PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron	p.R242H			WXS	Illumina GAIIx	Phase_I	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	860	-						10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.725G>A																																																																																					0.612	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		5	18	0	0	0	1	0	5	18				
ATXN1	6310	broad.mit.edu	37	6	16327897	16327897	+	Missense_Mutation	SNP	C	C	A	rs184327938		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:16327897C>A	ENST00000244769.4	-	8	1581	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	215	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Q215H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667																																						ENST00000244769.4																			1	Substitution - Missense(1)	p.Q215H(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(643-645)caG>caT		ataxin 1							4.0	8.0	7.0					6																	16327897		1730	3633	5363	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327897C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.645G>T	6.37:g.16327897C>A	ENSP00000244769:p.Gln215His		Somatic				ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	p.Q215H	NM_000332.3	NP_000323.2	WXS	Illumina GAIIx	Phase_I	P54253	ATX1_HUMAN			8	1581	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	215			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.645G>T	CCDS34342.1	161	0.07371794871794872	7	0.014227642276422764	16	0.04419889502762431	116	0.20279720279720279	22	0.029023746701846966	-	1.752	-0.489019	0.04352	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56611	0.45;0.45	.	.	.	.	.	.	.	.	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.21245	-1.0251	5	0.59425	D	0.04	.	.	.	.	.	215	P54253	ATX1_HUMAN	H	215	ENSP00000244769:Q215H;ENSP00000416360:Q215H	ENSP00000244769:Q215H	Q	-	3	2	ATXN1	16435876	0.000000	0.05858	0.011000	0.14972	0.097000	0.18754	-0.615000	0.05597	0.107000	0.17824	0.109000	0.15622	CAG		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		5	10	1	0	0.184627	1	0.184627	5	10				
DPCR1	135656	broad.mit.edu	37	6	30919895	30919895	+	Silent	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919895C>G	ENST00000462446.1	+	2	3682	c.3654C>G	c.(3652-3654)acC>acG	p.T1218T	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.T60T			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	342						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCACACTGACCACTGAGACCA	0.453																																						ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3652-3654)acC>acG		diffuse panbronchiolitis critical region 1							137.0	138.0	137.0					6																	30919895		2203	4300	6503	SO:0001819	synonymous_variant	135656					integral to membrane		g.chr6:30919895C>G	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3654C>G	6.37:g.30919895C>G			Somatic				HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.T60T	p.T1218T			WXS	Illumina GAIIx	Phase_I	Q3MIW9	DPCR1_HUMAN			2	3682	+			342					C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3654C>G	CCDS4692.2																																																																																				0.453	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		23	68	0	0	0	1	0	23	68				
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		12	Substitution - Missense(12)	p.R625L(9)|p.R625P(2)|p.R625H(1)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt		splicing factor 3b, subunit 1, 155kDa							95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His		Somatic					p.R625H	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	SF3B1	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			19	27	0	0	0	1	0	19	27				
CNTN3	5067	broad.mit.edu	37	3	74535622	74535622	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr3:74535622T>G	ENST00000263665.6	-	3	370	c.343A>C	c.(343-345)Aaa>Caa	p.K115Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	115	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACTGAAGTTTGGCTTCTCTG	0.338																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(343-345)Aaa>Caa		contactin 3 (plasmacytoma associated)							129.0	125.0	126.0					3																	74535622		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535622T>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.343A>C	3.37:g.74535622T>G	ENSP00000263665:p.Lys115Gln		Somatic					p.K115Q	NM_020872.1	NP_065923.1	WXS	Illumina GAIIx	Phase_I	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	3	370	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	115			Ig-like C2-type 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.343A>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	T	9.295	1.051643	0.19827	.	.	ENSG00000113805	ENST00000263665	T	0.67345	-0.26	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.107337	0.64402	D	0.000006	T	0.51449	0.1675	L	0.28608	0.87	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.34551	-0.9824	10	0.22109	T	0.4	.	9.4441	0.38686	0.1582:0.0:0.0:0.8418	.	115	Q9P232	CNTN3_HUMAN	Q	115	ENSP00000263665:K115Q	ENSP00000263665:K115Q	K	-	1	0	CNTN3	74618312	0.823000	0.29233	0.117000	0.21633	0.715000	0.41141	4.097000	0.57741	2.230000	0.72887	0.477000	0.44152	AAA		0.338	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		9	31	0	0	0	1	0	9	31				
SLIT3	6586	broad.mit.edu	37	5	168175312	168175312	+	Silent	SNP	G	G	A	rs116182795		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr5:168175312G>A	ENST00000519560.1	-	20	2684	c.2265C>T	c.(2263-2265)acC>acT	p.T755T	SLIT3_ENST00000404867.3_Silent_p.T755T|SLIT3_ENST00000332966.8_Silent_p.T755T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	755					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACAGCTCGGTCACATCCT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19021	0.0		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2263-2265)acC>acT		slit homolog 3 (Drosophila)				12,4394	19.1+/-41.9	0,12,2191	116.0	116.0	116.0		2265	-8.6	0.5	5	dbSNP_132	116	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		755/1524	168175312	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175312G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2265C>T	5.37:g.168175312G>A			Somatic				SLIT3_ENST00000404867.3_Silent_p.T755T|SLIT3_ENST00000332966.8_Silent_p.T755T	p.T755T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	WXS	Illumina GAIIx	Phase_I	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2684	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	755					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2265C>T	CCDS4369.1																																																																																				0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		20	74	0	0	0	1	0	20	74				
TTC17	55761	broad.mit.edu	37	11	43429111	43429111	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:43429111C>T	ENST00000039989.4	+	15	2062	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A683V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	683					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAGCTTTGGCCATCAATAGC	0.388																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2047-2049)gCc>gTc		tetratricopeptide repeat domain 17							68.0	60.0	62.0					11																	43429111		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43429111C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2048C>T	11.37:g.43429111C>T	ENSP00000039989:p.Ala683Val		Somatic				TTC17_ENST00000299240.6_Missense_Mutation_p.A683V|TTC17_ENST00000526774.1_3'UTR	p.A683V	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	Q96AE7	TTC17_HUMAN			15	2062	+			683					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2048C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284051	0.23392	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.61274	0.12;0.12	5.63	4.72	0.59763	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.395423	0.29814	N	0.011133	T	0.55162	0.1903	L	0.55213	1.73	0.26891	N	0.967325	B;B;B	0.27997	0.197;0.19;0.164	B;B;B	0.30316	0.111;0.114;0.067	T	0.54214	-0.8327	10	0.52906	T	0.07	-4.8348	14.8381	0.70201	0.0:0.9309:0.0:0.0691	.	683;683;683	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	683	ENSP00000299240:A683V;ENSP00000039989:A683V	ENSP00000039989:A683V	A	+	2	0	TTC17	43385687	0.822000	0.29219	0.908000	0.35775	0.440000	0.31957	1.552000	0.36244	1.395000	0.46643	-0.189000	0.12847	GCC		0.388	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		3	44	0	0	0	1	0	3	44				
DPCR1	135656	broad.mit.edu	37	6	30919829	30919829	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919829C>G	ENST00000462446.1	+	2	3616	c.3588C>G	c.(3586-3588)tgC>tgG	p.C1196W	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.C38W			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	320						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGACCATATGCACCAAAGGGA	0.478																																						ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3586-3588)tgC>tgG		diffuse panbronchiolitis critical region 1							165.0	163.0	164.0					6																	30919829		2203	4300	6503	SO:0001583	missense	135656					integral to membrane		g.chr6:30919829C>G	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3588C>G	6.37:g.30919829C>G	ENSP00000417182:p.Cys1196Trp		Somatic				HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.C38W	p.C1196W			WXS	Illumina GAIIx	Phase_I	Q3MIW9	DPCR1_HUMAN			2	3616	+			320					C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3588C>G	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355578	0.24598	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.24151	1.87;1.91	1.31	0.0321	0.14174	.	.	.	.	.	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.11275	-1.0594	9	0.66056	D	0.02	14.3943	7.3939	0.26926	0.0:0.4153:0.5847:0.0	.	1196	E9PEI6	.	W	1196;320;38	ENSP00000417182:C1196W;ENSP00000305948:C38W	ENSP00000305948:C38W	C	+	3	2	DPCR1	31027808	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-6.305000	0.00071	-0.193000	0.10415	0.448000	0.29417	TGC		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		22	64	0	0	0	1	0	22	64				
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A	rs201706430		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20924	0.001		0.0	False		,,,				2504	0.0					ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(85-87)Cgg>Tgg		chromosome 2 open reading frame 71							92.0	87.0	89.0					2																	29297043		1992	4166	6158	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29297043G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.85C>T	2.37:g.29297043G>A	ENSP00000332809:p.Arg29Trp		Somatic					p.R29W	NM_001029883.2	NP_001025054.1	WXS	Illumina GAIIx	Phase_I	A6NGG8	CB071_HUMAN			1	84	-			29						Missense_Mutation	SNP	ENST00000331664.5	37	c.85C>T	CCDS42669.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.86	1.765442	0.31228	.	.	ENSG00000179270	ENST00000331664	T	0.17854	2.25	5.88	-5.99	0.02213	.	0.143123	0.29853	N	0.011038	T	0.14570	0.0352	N	0.22421	0.69	0.19300	N	0.999976	D	0.57571	0.98	P	0.47744	0.556	T	0.22556	-1.0213	10	0.72032	D	0.01	-2.8259	19.4436	0.94836	0.2736:0.0:0.7264:0.0	.	29	A6NGG8	CB071_HUMAN	W	29	ENSP00000332809:R29W	ENSP00000332809:R29W	R	-	1	2	C2orf71	29150547	0.015000	0.18098	0.113000	0.21522	0.211000	0.24417	-0.612000	0.05616	-1.088000	0.03077	-0.291000	0.09656	CGG		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		19	73	0	0	0	1	0	19	73				
KRT16	3868	broad.mit.edu	37	17	39767698	39767698	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:39767698G>A	ENST00000301653.4	-	3	734	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	224	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AACACCCGGCGCAGGCCATTG	0.617																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(670-672)Cgc>Tgc		keratin 16							59.0	59.0	59.0					17																	39767698		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767698G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.670C>T	17.37:g.39767698G>A	ENSP00000301653:p.Arg224Cys		Somatic					p.R224C	NM_005557.3	NP_005548.2	WXS	Illumina GAIIx	Phase_I	P08779	K1C16_HUMAN			3	734	-		Breast(137;0.000307)	224			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.670C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458154	0.43634	.	.	ENSG00000186832	ENST00000301653	D	0.92545	-3.06	4.84	4.84	0.62591	Filament (1);	0.000000	0.52532	D	0.000074	D	0.91549	0.7331	M	0.70108	2.13	0.54753	D	0.999988	B	0.33964	0.434	B	0.32465	0.146	D	0.91905	0.5535	10	0.66056	D	0.02	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	224	P08779	K1C16_HUMAN	C	224	ENSP00000301653:R224C	ENSP00000301653:R224C	R	-	1	0	KRT16	37021224	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.201000	0.51059	2.666000	0.90696	0.561000	0.74099	CGC		0.617	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		4	68	0	0	0	1	0	4	68				
CAMK1D	57118	broad.mit.edu	37	10	12867686	12867686	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr10:12867686G>A	ENST00000378847.3	+	10	1373	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D346N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	346	Ser-rich.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGCCAAAAAGACTGTGCGTA	0.552																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(1036-1038)Gac>Aac		calcium/calmodulin-dependent protein kinase ID							138.0	131.0	134.0					10																	12867686		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12867686G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1036G>A	10.37:g.12867686G>A	ENSP00000368124:p.Asp346Asn		Somatic				CAMK1D_ENST00000378845.1_Missense_Mutation_p.D346N	p.D346N	NM_153498.2	NP_705718.1	WXS	Illumina GAIIx	Phase_I	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	10	1373	+			346			Ser-rich.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1036G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172228	0.78452	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.68331	-0.32;-0.27	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	N	0.25890	0.77	0.38139	D	0.938405	B;B	0.33694	0.421;0.421	B;B	0.27608	0.081;0.059	T	0.58509	-0.7624	10	0.38643	T	0.18	-26.2489	17.3077	0.87199	0.0:0.0:1.0:0.0	.	346;346	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	346	ENSP00000368124:D346N;ENSP00000368122:D346N	ENSP00000368122:D346N	D	+	1	0	CAMK1D	12907692	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.225000	0.78051	2.563000	0.86464	0.650000	0.86243	GAC		0.552	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		5	122	0	0	0	1	0	5	122				
FANCM	57697	broad.mit.edu	37	14	45668011	45668011	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr14:45668011G>T	ENST00000267430.5	+	22	5966	c.5881G>T	c.(5881-5883)Gtt>Ttt	p.V1961F	FANCM_ENST00000542564.2_Missense_Mutation_p.V1935F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1961	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGTATTCATGTTCCAACAGT	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5881-5883)Gtt>Ttt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							82.0	84.0	83.0					14																	45668011		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45668011G>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5881G>T	14.37:g.45668011G>T	ENSP00000267430:p.Val1961Phe		Somatic				FANCM_ENST00000542564.2_Missense_Mutation_p.V1935F	p.V1961F	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			22	5966	+			1961			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5881G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.249543|1.249543	0.22880|0.22880	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250;ENST00000555484	.|T;T;T	.|0.21361	.|2.61;2.61;2.01	5.71|5.71	2.89|2.89	0.33648|0.33648	.|RuvA domain 2-like (1);	.|0.127059	.|0.52532	.|D	.|0.000063	T|T	0.21022|0.21022	0.0506|0.0506	M|M	0.63843|0.63843	1.955|1.955	0.31377|0.31377	N|N	0.67947|0.67947	.|B;B	.|0.15719	.|0.003;0.014	.|B;B	.|0.17433	.|0.007;0.018	T|T	0.11421|0.11421	-1.0588|-1.0588	5|10	.|0.56958	.|D	.|0.05	.|.	7.6476|7.6476	0.28329|0.28329	0.1436:0.0:0.7221:0.1343|0.1436:0.0:0.7221:0.1343	.|.	.|1935;1961	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	F|F	928|1961;1935;1477;87	.|ENSP00000267430:V1961F;ENSP00000442493:V1935F;ENSP00000452033:V1477F	.|ENSP00000267430:V1961F	C|V	+|+	2|1	0|0	FANCM|FANCM	44737761|44737761	0.966000|0.966000	0.33281|0.33281	0.906000|0.906000	0.35671|0.35671	0.366000|0.366000	0.29705|0.29705	1.731000|1.731000	0.38135|0.38135	0.330000|0.330000	0.23485|0.23485	-0.152000|-0.152000	0.13540|0.13540	TGT|GTT		0.358	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		16	31	1	0	2.48551e-13	1	2.66962e-13	16	31				
KRT31	3881	broad.mit.edu	37	17	39550398	39550398	+	Missense_Mutation	SNP	G	G	A	rs111342287	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:39550398G>A	ENST00000251645.2	-	7	1173	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	374	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGCGTTGGTCGTGGCACAGGG	0.557													G|||	4	0.000798722	0.0015	0.0	5008	,	,		20411	0.002		0.0	False		,,,				2504	0.0					ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1120-1122)aCg>aTg		keratin 31		G	MET/THR	13,4393	20.2+/-43.8	0,13,2190	113.0	93.0	100.0		1121	5.8	0.8	17	dbSNP_132	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT31	NM_002277.2	81	0,14,6489	AA,AG,GG		0.0116,0.2951,0.1076	possibly-damaging	374/417	39550398	14,12992	2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39550398G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1121C>T	17.37:g.39550398G>A	ENSP00000251645:p.Thr374Met		Somatic					p.T374M	NM_002277.2	NP_002268.2	WXS	Illumina GAIIx	Phase_I	Q15323	K1H1_HUMAN			7	1173	-		Breast(137;0.000496)	374			Tail.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.1121C>T	CCDS11391.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	15.56	2.868962	0.51588	0.002951	1.16E-4	ENSG00000094796	ENST00000251645	D	0.82711	-1.64	5.76	5.76	0.90799	.	0.101993	0.43579	D	0.000543	D	0.86381	0.5919	M	0.86420	2.815	0.35862	D	0.827586	D	0.53885	0.963	B	0.43809	0.432	D	0.91732	0.5397	10	0.66056	D	0.02	.	15.4707	0.75439	0.0:0.0:1.0:0.0	.	374	Q15323	K1H1_HUMAN	M	374	ENSP00000251645:T374M	ENSP00000251645:T374M	T	-	2	0	KRT31	36803924	0.997000	0.39634	0.784000	0.31847	0.805000	0.45488	3.246000	0.51414	2.728000	0.93425	0.655000	0.94253	ACG		0.557	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		17	40	0	0	0	1	0	17	40				
DPCR1	135656	broad.mit.edu	37	6	30920102	30920102	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30920102C>G	ENST00000462446.1	+	2	3889	c.3861C>G	c.(3859-3861)atC>atG	p.I1287M	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.I129M			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	411						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TGAGTTCTATCACATCAGAAG	0.438																																						ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3859-3861)atC>atG		diffuse panbronchiolitis critical region 1							96.0	94.0	95.0					6																	30920102		2203	4300	6503	SO:0001583	missense	135656					integral to membrane		g.chr6:30920102C>G	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3861C>G	6.37:g.30920102C>G	ENSP00000417182:p.Ile1287Met		Somatic				HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.I129M	p.I1287M			WXS	Illumina GAIIx	Phase_I	Q3MIW9	DPCR1_HUMAN			2	3889	+			411					C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3861C>G	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496829	0.44352	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.26810	1.71;1.79	3.61	-0.797	0.10909	.	.	.	.	.	T	0.13114	0.0318	L	0.33485	1.01	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.06058	-1.0848	9	0.49607	T	0.09	-0.0029	0.696	0.00899	0.1925:0.3853:0.1883:0.2339	.	1287	E9PEI6	.	M	1287;411;129	ENSP00000417182:I1287M;ENSP00000305948:I129M	ENSP00000305948:I129M	I	+	3	3	DPCR1	31028081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.038000	0.13862	0.006000	0.14734	-0.323000	0.08544	ATC		0.438	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		47	111	0	0	0	1	0	47	111				
GINM1	116254	broad.mit.edu	37	6	149901014	149901014	+	Silent	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:149901014C>T	ENST00000367419.5	+	5	595	c.474C>T	c.(472-474)aaC>aaT	p.N158N		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TAGTTAAGAACCGGGGAGTAC	0.353																																						ENST00000367419.5																			0											c.(472-474)aaC>aaT		glycoprotein integral membrane 1							68.0	65.0	66.0					6																	149901014		2202	4300	6502	SO:0001819	synonymous_variant	116254							g.chr6:149901014C>T	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.474C>T	6.37:g.149901014C>T			Somatic					p.N158N	NM_138785.3	NP_620140.1	WXS	Illumina GAIIx	Phase_I					5	595	+								B2RDY7|E1P5A2	Silent	SNP	ENST00000367419.5	37	c.474C>T	CCDS5216.1																																																																																				0.353	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		3	17	0	0	0	1	0	3	17				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		35	41	0	0	0	1	0	35	41				
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329					ENST00000412962.1																			0																																																			0							g.chr1:16946437C>T	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.16946437C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	1082	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	19	0	0	0	1	0	3	19				
ALYREF	10189	broad.mit.edu	37	17	79848635	79848635	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:79848635G>A	ENST00000331204.4	-	2	325	c.299C>T	c.(298-300)gCc>gTc	p.A100V	ANAPC11_ENST00000578544.1_5'Flank|ANAPC11_ENST00000572639.1_5'Flank|ANAPC11_ENST00000577425.1_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.A107V|ANAPC11_ENST00000571874.2_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000572851.2_5'Flank|ALYREF_ENST00000512673.1_5'UTR|ANAPC11_ENST00000344877.5_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ANAPC11_ENST00000579978.1_5'Flank|ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000392376.3_5'Flank|ANAPC11_ENST00000584314.1_5'Flank|ANAPC11_ENST00000579133.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	100	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										CTCCACGCCGGCACCACCGCC	0.532																																						ENST00000331204.4																			0											c.(298-300)gCc>gTc		Aly/REF export factor							66.0	65.0	66.0					17																	79848635		2203	4300	6503	SO:0001583	missense	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79848635G>A	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.299C>T	17.37:g.79848635G>A	ENSP00000331817:p.Ala100Val		Somatic				ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.A107V	p.A100V	NM_005782.3	NP_005773.3	WXS	Illumina GAIIx	Phase_I	Q86V81	THOC4_HUMAN			2	325	-			100			Ala/Arg/Gly-rich.		O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.299C>T		.	.	.	.	.	.	.	.	.	.	G	18.18	3.566266	0.65651	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	T;T	0.13657	2.57;2.57	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.55990	1.75	0.47341	D	0.999392	B	0.23128	0.08	B	0.20384	0.029	T	0.02966	-1.1088	10	0.34782	T	0.22	.	17.8453	0.88728	0.0:0.0:1.0:0.0	.	107	E9PB61	.	V	100;107	ENSP00000331817:A100V;ENSP00000421592:A107V	ENSP00000331817:A100V	A	-	2	0	THOC4	77441931	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	4.381000	0.59587	2.617000	0.88574	0.655000	0.94253	GCC		0.532	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		4	48	0	0	0	1	0	4	48				
NCAPH	23397	broad.mit.edu	37	2	97031759	97031759	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:97031759C>A	ENST00000240423.4	+	14	1887	c.1844C>A	c.(1843-1845)aCa>aAa	p.T615K	NCAPH_ENST00000427946.1_Missense_Mutation_p.T479K|NCAPH_ENST00000455200.1_Missense_Mutation_p.T604K	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	615					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GACATCACAACATATGGGGAG	0.438																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1810-1812)aCa>aAa		non-SMC condensin I complex, subunit H							172.0	158.0	163.0					2																	97031759		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97031759C>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1844C>A	2.37:g.97031759C>A	ENSP00000240423:p.Thr615Lys		Somatic				NCAPH_ENST00000240423.4_Missense_Mutation_p.T615K|NCAPH_ENST00000427946.1_Missense_Mutation_p.T479K	p.T604K			WXS	Illumina GAIIx	Phase_I	Q15003	CND2_HUMAN			14	2106	+		Ovarian(717;0.0221)	615					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1811C>A	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.005366|3.005366	0.54254|0.54254	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000435349|ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.79|5.79	3.66|3.66	0.41972|0.41972	.|.	.|0.235751	.|0.49305	.|D	.|0.000145	T|T	0.40767|0.40767	0.1130|0.1130	M|M	0.71581|0.71581	2.175|2.175	0.37538|0.37538	D|D	0.918201|0.918201	.|P;B;P	.|0.41366	.|0.629;0.437;0.747	.|B;B;B	.|0.42653	.|0.237;0.252;0.394	T|T	0.39333|0.39333	-0.9619|-0.9619	5|10	.|0.20519	.|T	.|0.43	-12.1453|-12.1453	7.9462|7.9462	0.29987|0.29987	0.0:0.7148:0.1878:0.0973|0.0:0.7148:0.1878:0.0973	.|.	.|591;604;615	.|B4DRG7;E9PHA2;Q15003	.|.;.;CND2_HUMAN	K|K	55|615;479;604;604	.|ENSP00000240423:T615K;ENSP00000400774:T479K;ENSP00000405237:T604K;ENSP00000407308:T604K	.|ENSP00000240423:T615K	N|T	+|+	3|2	2|0	NCAPH|NCAPH	96395486|96395486	0.635000|0.635000	0.27199|0.27199	0.848000|0.848000	0.33437|0.33437	0.928000|0.928000	0.56348|0.56348	2.464000|2.464000	0.45067|0.45067	1.424000|1.424000	0.47217|0.47217	0.563000|0.563000	0.77884|0.77884	AAC|ACA		0.438	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		3	38	1	0	0.115264	1	0.119381	3	38				
USP35	57558	broad.mit.edu	37	11	77911266	77911266	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:77911266G>A	ENST00000529308.1	+	5	1285	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	USP35_ENST00000526425.1_Missense_Mutation_p.E73K|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	342					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCACTCCCACGAAGCCTTCCA	0.622																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1024-1026)Gaa>Aaa		ubiquitin specific peptidase 35							72.0	73.0	73.0					11																	77911266		1982	4152	6134	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911266G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1024G>A	11.37:g.77911266G>A	ENSP00000431876:p.Glu342Lys		Somatic				USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.E73K	p.E342K	NM_020798.2	NP_065849.1	WXS	Illumina GAIIx	Phase_I	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	1285	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		342						Missense_Mutation	SNP	ENST00000529308.1	37	c.1024G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377826	0.82682	.	.	ENSG00000118369	ENST00000528910;ENST00000529308;ENST00000526425	T;T;T	0.42131	0.98;0.98;0.98	4.7	4.7	0.59300	Armadillo-like helical (1);	0.000000	0.53938	D	0.000055	T	0.61590	0.2359	L	0.57536	1.79	0.54753	D	0.999988	D	0.89917	1.0	D	0.80764	0.994	T	0.62854	-0.6766	10	0.51188	T	0.08	-28.922	17.8481	0.88737	0.0:0.0:1.0:0.0	.	342	Q9P2H5	UBP35_HUMAN	K	98;342;73	ENSP00000436001:E98K;ENSP00000431876:E342K;ENSP00000434942:E73K	ENSP00000434942:E73K	E	+	1	0	USP35	77588914	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	9.657000	0.98554	2.437000	0.82529	0.655000	0.94253	GAA		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		7	28	0	0	0	1	0	7	28				
NEDD4	4734	broad.mit.edu	37	15	56208903	56208903	+	Missense_Mutation	SNP	T	T	C	rs148700559		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr15:56208903T>C	ENST00000508342.1	-	1	426	c.127A>G	c.(127-129)Acg>Gcg	p.T43A	NEDD4_ENST00000338963.2_Missense_Mutation_p.T43A|NEDD4_ENST00000506154.1_Missense_Mutation_p.T43A|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	43					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACGTTAGACGTTGAAATCCGT	0.443																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(127-129)Acg>Gcg		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase		T	,ALA/THR	0,4386		0,0,2193	186.0	168.0	174.0		,127	-10.8	0.0	15	dbSNP_134	174	1,8581	1.2+/-3.3	0,1,4290	no	intron,missense	NEDD4	NM_006154.2,NM_198400.2	,58	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	,benign	,43/1248	56208903	1,12967	2193	4291	6484	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56208903T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.127A>G	15.37:g.56208903T>C	ENSP00000424827:p.Thr43Ala		Somatic				NEDD4_ENST00000338963.2_Missense_Mutation_p.T43A|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.T43A	p.T43A	NM_001284338.1	NP_001271267.1	WXS	Illumina GAIIx	Phase_I	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	426	-			43					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.127A>G		.	.	.	.	.	.	.	.	.	.	T	2.182	-0.387367	0.04932	0.0	1.17E-4	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.40756	1.02;1.02;1.02	5.39	-10.8	0.00216	.	1.573570	0.04489	N	0.379220	T	0.16342	0.0393	.	.	.	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12863	-1.0531	9	0.07482	T	0.82	.	9.7125	0.40254	0.0922:0.3362:0.0:0.5716	.	43;43;43	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	A	43	ENSP00000424827:T43A;ENSP00000345530:T43A;ENSP00000422705:T43A	ENSP00000345530:T43A	T	-	1	0	NEDD4	53996195	0.008000	0.16893	0.000000	0.03702	0.904000	0.53231	-0.498000	0.06420	-2.554000	0.00477	-1.345000	0.01243	ACG		0.443	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		22	104	0	0	0	1	0	22	104				
CRISP1	167	broad.mit.edu	37	6	49819827	49819827	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:49819827C>T	ENST00000335847.4	-	3	183	c.82G>A	c.(82-84)Gac>Aac	p.D28N	CRISP1_ENST00000536021.1_Missense_Mutation_p.D28N|CRISP1_ENST00000505118.1_Missense_Mutation_p.D28N|CRISP1_ENST00000329411.5_Missense_Mutation_p.D28N|CRISP1_ENST00000355791.2_Missense_Mutation_p.D28N|CRISP1_ENST00000507853.1_Missense_Mutation_p.D28N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	28					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TTAAATTGGTCTCTAGCTGAT	0.368																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(82-84)Gac>Aac		cysteine-rich secretory protein 1							160.0	162.0	161.0					6																	49819827		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49819827C>T	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.82G>A	6.37:g.49819827C>T	ENSP00000338276:p.Asp28Asn		Somatic				CRISP1_ENST00000329411.5_Missense_Mutation_p.D28N|CRISP1_ENST00000536021.1_Missense_Mutation_p.D28N|CRISP1_ENST00000507853.1_Missense_Mutation_p.D28N|CRISP1_ENST00000505118.1_Missense_Mutation_p.D28N|CRISP1_ENST00000355791.2_Missense_Mutation_p.D28N	p.D28N	NM_001131.2	NP_001122.2	WXS	Illumina GAIIx	Phase_I	P54107	CRIS1_HUMAN			3	183	-	Lung NSC(77;0.0358)		28					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.82G>A	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	6.231	0.410788	0.11812	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01	4.93	-1.26	0.09376	CAP domain (2);	3.392110	0.00732	N	0.000946	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43798	-0.9369	9	.	.	.	.	10.4782	0.44678	0.0:0.5052:0.0:0.4948	.	28;28	P54107-2;P54107	.;CRIS1_HUMAN	N	28	ENSP00000425020:D28N;ENSP00000338276:D28N;ENSP00000348044:D28N;ENSP00000331317:D28N;ENSP00000427589:D28N;ENSP00000441798:D28N	.	D	-	1	0	CRISP1	49927786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.682000	0.05185	-0.829000	0.04268	-2.010000	0.00438	GAC		0.368	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		4	144	0	0	0	1	0	4	144				
ZNF195	7748	broad.mit.edu	37	11	3380662	3380662	+	Missense_Mutation	SNP	C	C	T	rs376637698		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:3380662C>T	ENST00000399602.4	-	6	1702	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	ZNF195_ENST00000343338.7_Missense_Mutation_p.E458K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E458K|ZNF195_ENST00000354599.6_Missense_Mutation_p.E454K|ZNF195_ENST00000005082.9_Missense_Mutation_p.E503K|ZNF195_ENST00000526601.1_Missense_Mutation_p.E507K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTTCCACATTCGTCACATTTG	0.413																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1360-1362)Gaa>Aaa		zinc finger protein 195							158.0	160.0	159.0					11																	3380662		2056	4223	6279	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380662C>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1576G>A	11.37:g.3380662C>T	ENSP00000382511:p.Glu526Lys		Somatic				ZNF195_ENST00000399602.4_Missense_Mutation_p.E526K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E458K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.E458K|ZNF195_ENST00000526601.1_Missense_Mutation_p.E507K|ZNF195_ENST00000005082.9_Missense_Mutation_p.E503K	p.E454K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	WXS	Illumina GAIIx	Phase_I	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1464	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	526					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.1360G>A	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320050	0.41096	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2	1.27	-0.151	0.13411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11665	0.0284	N	0.16903	0.455	0.09310	N	1	P;P;D;P;D;P	0.67145	0.875;0.937;0.994;0.922;0.996;0.922	P;B;D;B;D;B	0.70227	0.807;0.209;0.946;0.133;0.968;0.133	T	0.28554	-1.0040	9	0.72032	D	0.01	.	6.6009	0.22701	0.0:0.6997:0.3003:0.0	.	507;385;503;458;526;454	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	K	454;526;458;458;503;507	ENSP00000346613:E454K;ENSP00000382511:E526K;ENSP00000344483:E458K;ENSP00000387998:E458K;ENSP00000005082:E503K;ENSP00000435828:E507K	ENSP00000005082:E503K	E	-	1	0	ZNF195	3337238	0.000000	0.05858	0.006000	0.13384	0.150000	0.21749	-0.845000	0.04340	0.638000	0.30545	0.305000	0.20034	GAA		0.413	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			41	51	0	0	0	1	0	41	51				
DPCR1	135656	broad.mit.edu	37	6	30919999	30919999	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919999C>G	ENST00000462446.1	+	2	3786	c.3758C>G	c.(3757-3759)tCt>tGt	p.S1253C	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.S95C			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	377						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGAGACAAATCTCTCACTACT	0.418																																						ENST00000462446.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3757-3759)tCt>tGt		diffuse panbronchiolitis critical region 1							136.0	134.0	135.0					6																	30919999		2203	4300	6503	SO:0001583	missense	135656					integral to membrane		g.chr6:30919999C>G	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3758C>G	6.37:g.30919999C>G	ENSP00000417182:p.Ser1253Cys		Somatic				HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.S95C	p.S1253C			WXS	Illumina GAIIx	Phase_I	Q3MIW9	DPCR1_HUMAN			2	3786	+			377					C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3758C>G	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232160	0.39498	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.29142	1.58;1.69	3.69	1.87	0.25490	.	.	.	.	.	T	0.24160	0.0585	L	0.40543	1.245	0.09310	N	1	D	0.59767	0.986	D	0.67103	0.949	T	0.04693	-1.0933	9	0.72032	D	0.01	3.1604	5.9248	0.19104	0.0:0.7496:0.0:0.2504	.	1253	E9PEI6	.	C	1253;377;95	ENSP00000417182:S1253C;ENSP00000305948:S95C	ENSP00000305948:S95C	S	+	2	0	DPCR1	31027978	0.002000	0.14202	0.001000	0.08648	0.012000	0.07955	1.470000	0.35354	0.338000	0.23692	-0.271000	0.10264	TCT		0.418	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870		31	101	0	0	0	1	0	31	101				
CD2AP	23607	broad.mit.edu	37	6	47573987	47573987	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:47573987C>T	ENST00000359314.5	+	14	1960	c.1504C>T	c.(1504-1506)Ccg>Tcg	p.P502S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	502					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAAGGTTGCCGGGCCGTTT	0.378																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1504-1506)Ccg>Tcg		CD2-associated protein							117.0	109.0	112.0					6																	47573987		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47573987C>T	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1504C>T	6.37:g.47573987C>T	ENSP00000352264:p.Pro502Ser		Somatic					p.P502S	NM_012120.2	NP_036252.1	WXS	Illumina GAIIx	Phase_I	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		14	1960	+			502					A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.1504C>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812460	0.90707	.	.	ENSG00000198087	ENST00000359314	T	0.65549	-0.16	5.72	5.72	0.89469	.	2.864440	0.01726	N	0.028575	T	0.81394	0.4813	M	0.81497	2.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.67573	-0.5636	10	0.48119	T	0.1	-12.2541	19.8711	0.96851	0.0:1.0:0.0:0.0	.	502	Q9Y5K6	CD2AP_HUMAN	S	502	ENSP00000352264:P502S	ENSP00000352264:P502S	P	+	1	0	CD2AP	47681946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.675000	0.68123	2.689000	0.91719	0.591000	0.81541	CCG		0.378	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			4	129	0	0	0	1	0	4	129				
DHX34	9704	broad.mit.edu	37	19	47882984	47882984	+	Silent	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:47882984C>T	ENST00000328771.4	+	14	3073	c.2724C>T	c.(2722-2724)agC>agT	p.S908S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	908					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGCTTTTTAGCCGGTCTTTGG	0.632																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2722-2724)agC>agT		DEAH (Asp-Glu-Ala-His) box polypeptide 34							102.0	88.0	92.0					19																	47882984		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47882984C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2724C>T	19.37:g.47882984C>T			Somatic					p.S908S	NM_014681.5	NP_055496.2	WXS	Illumina GAIIx	Phase_I	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3073	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	908					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2724C>T	CCDS12700.1																																																																																				0.632	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		4	121	0	0	0	1	0	4	121				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cccfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs		Somatic					p.P6fs	NM_024408.3	NP_077719.2	WXS	Illumina GAIIx	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		5	8						5	8	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17439127	17439127	+	Frame_Shift_Del	DEL	C	C	-	rs374120885		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:17439127delC	ENST00000159087.4	-	13	2228	c.2070delG	c.(2068-2070)gggfs	p.G690fs		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	690					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCCCGTCGGGCCCCTGGTCTC	0.741																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2068-2070)gggfs		anoctamin 8							8.0	9.0	9.0					19																	17439127		2053	4141	6194	SO:0001589	frameshift_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17439127delC	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2070delG	19.37:g.17439127delC	ENSP00000159087:p.Gly690fs		Somatic					p.G690fs	NM_020959.2	NP_066010.1	WXS	Illumina GAIIx	Phase_I	Q9HCE9	ANO8_HUMAN			13	2228	-			690					A6NIJ0	Frame_Shift_Del	DEL	ENST00000159087.4	37	c.2070delG	CCDS32949.1																																																																																				0.741	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		2	4						2	4	---	---	---	---
