#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KCNN3	3782	broad.mit.edu	37	1	154744824	154744824	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:154744824T>C	ENST00000271915.4	-	3	1390	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	364					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CGCTCGTAGGTCATGGCTATC	0.592																																						ENST00000271915.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1075-1077)Acc>Gcc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							50.0	45.0	47.0					1																	154744824		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744824T>C	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1075A>G	1.37:g.154744824T>C	ENSP00000271915:p.Thr359Ala					KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A	p.T359A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1390	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)							B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1075A>G	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582186	0.86748	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98987	-5.3;-4.09;-5.26	4.69	4.69	0.59074	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.56097	D	0.000027	D	0.99321	0.9762	M	0.90483	3.12	0.54753	D	0.999986	D;D;P	0.76494	0.999;0.992;0.929	D;D;P	0.83275	0.996;0.989;0.792	D	0.98979	1.0804	10	0.87932	D	0	-33.9045	13.994	0.64386	0.0:0.0:0.0:1.0	.	365;364;54	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	A	54;359;46	ENSP00000354764:T54A;ENSP00000271915:T359A;ENSP00000351295:T46A	ENSP00000271915:T359A	T	-	1	0	KCNN3	153011448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.864000	0.87037	1.956000	0.56807	0.459000	0.35465	ACC		0.592	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		9	30	9	30	---	---	---	---
C1ORF220	400798	broad.mit.edu	37	1	178514844	178514844	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:178514844C>T	ENST00000367636.4	+	2	568	c.230C>T	c.(229-231)gCc>gTc	p.A77V	C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR																							GCTCTTTCCGCCACATCACAG	0.527																																						ENST00000367636.4																			0											c.(229-231)gCc>gTc									92.0	75.0	81.0					1																	178514844		2203	4300	6503	SO:0001583	missense	400798							g.chr1:178514844C>T																												ENST00000367636.4:c.230C>T	1.37:g.178514844C>T	ENSP00000356608:p.Ala77Val					C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR	p.A77V							2	568	+									Missense_Mutation	SNP	ENST00000367636.4	37	c.230C>T		.	.	.	.	.	.	.	.	.	.	C	8.565	0.878735	0.17395	.	.	ENSG00000184909	ENST00000367636	T	0.24350	1.86	3.38	-1.2	0.09554	.	.	.	.	.	T	0.11495	0.0280	.	.	.	0.09310	N	1	B	0.33171	0.4	B	0.30646	0.118	T	0.22836	-1.0205	7	.	.	.	.	0.4279	0.00467	0.1887:0.3262:0.2016:0.2836	.	77	Q5T0J3	CA220_HUMAN	V	77	ENSP00000356608:A77V	.	A	+	2	0	AL513013.1	176781467	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.016000	0.12613	-0.228000	0.09869	0.462000	0.41574	GCC		0.527	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				7	79	7	79	---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245850131	245850131	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:245850131G>A	ENST00000407071.2	+	12	4286	c.3846G>A	c.(3844-3846)ctG>ctA	p.L1282L	KIF26B_ENST00000366518.4_Silent_p.L901L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1282					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCTGGCTGAGCGAGATGA	0.612																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2701-2703)ctG>ctA		kinesin family member 26B							34.0	41.0	38.0					1																	245850131		2137	4231	6368	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850131G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3846G>A	1.37:g.245850131G>A						KIF26B_ENST00000407071.2_Silent_p.L1282L	p.L901L			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2807	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1282					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2703G>A	CCDS44342.1																																																																																				0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		12	35	12	35	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160035657	160035657	+	Silent	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr2:160035657C>G	ENST00000263635.6	+	14	2730	c.2493C>G	c.(2491-2493)gcC>gcG	p.A831A	TANC1_ENST00000454300.1_Silent_p.A725A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	831					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACACGGCCTTCCTGTGTG	0.537																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2491-2493)gcC>gcG		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							62.0	64.0	64.0					2																	160035657		1935	4133	6068	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035657C>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2493C>G	2.37:g.160035657C>G						TANC1_ENST00000454300.1_Silent_p.A725A	p.A831A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			14	2730	+			831					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2493C>G	CCDS42766.1																																																																																				0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			46	77	46	77	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1418725	1418725	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:1418725G>A	ENST00000446702.2	+	17	2759	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E			Q9UQ52	CNTN6_HUMAN	contactin 6	711	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATGGAGGTGGAGGAAGTCGG	0.398																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2131-2133)gGa>gAa		contactin 6							197.0	187.0	190.0					3																	1418725		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418725G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2132G>A	3.37:g.1418725G>A	ENSP00000407822:p.Gly711Glu					CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E	p.G711E			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2759	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	711			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2132G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911263	0.92178	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.52754	0.65;0.65;0.65	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	T	0.79862	0.4519	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85326	0.1087	10	0.87932	D	0	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	711	Q9UQ52	CNTN6_HUMAN	E	711;639;711	ENSP00000407822:G711E;ENSP00000442791:G639E;ENSP00000341882:G711E	ENSP00000341882:G711E	G	+	2	0	CNTN6	1393725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.086000	0.94088	2.713000	0.92767	0.655000	0.94253	GGA		0.398	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		23	59	23	59	---	---	---	---
VGLL4	9686	broad.mit.edu	37	3	11744471	11744471	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:11744471G>T	ENST00000273038.3	-	2	403	c.38C>A	c.(37-39)tCt>tAt	p.S13Y	VGLL4_ENST00000404339.1_5'UTR	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial-like family member 4	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATGCACCAGAGATGCTGCCCT	0.373																																						ENST00000273038.3																			1	Substitution - Missense(1)	p.S13F(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(37-39)tCt>tAt		vestigial like 4 (Drosophila)							62.0	63.0	62.0					3																	11744471		2203	4300	6503	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11744471G>T	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000273038.3:c.38C>A	3.37:g.11744471G>T	ENSP00000273038:p.Ser13Tyr					VGLL4_ENST00000404339.1_5'UTR	p.S13Y	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	2	403	-			13					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000273038.3	37	c.38C>A	CCDS2606.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425993	0.25726	.	.	ENSG00000144560	ENST00000273038;ENST00000445411;ENST00000418000;ENST00000417206;ENST00000419541	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.28	4.38	0.52667	.	0.476618	0.21407	N	0.075049	T	0.55353	0.1915	L	0.34521	1.04	0.58432	D	0.999999	D	0.64830	0.994	D	0.67900	0.954	T	0.58020	-0.7710	10	0.87932	D	0	.	11.9948	0.53196	0.0:0.1746:0.8254:0.0	.	13	Q14135	VGLL4_HUMAN	Y	13	ENSP00000273038:S13Y;ENSP00000412923:S13Y;ENSP00000394439:S13Y;ENSP00000391932:S13Y;ENSP00000395557:S13Y	ENSP00000273038:S13Y	S	-	2	0	VGLL4	11719471	1.000000	0.71417	0.298000	0.25002	0.990000	0.78478	6.827000	0.75303	1.304000	0.44892	0.462000	0.41574	TCT		0.373	VGLL4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251950.2	NM_014667		3	18	3	18	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35763246	35763246	+	Missense_Mutation	SNP	C	C	T	rs199754646	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:35763246C>T	ENST00000187397.4	+	14	1601	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	382	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCAAGACGGCGAGTTTTGGG	0.537													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19702	0.001		0.0	False		,,,				2504	0.0					ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1144-1146)gCg>gTg		cAMP-regulated phosphoprotein, 21kDa							48.0	40.0	42.0					3																	35763246		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35763246C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1145C>T	3.37:g.35763246C>T	ENSP00000187397:p.Ala382Val					ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V	p.A382V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			14	1601	+			382			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1145C>T	CCDS2661.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	32	5.183850	0.94885	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.75	5.75	0.90469	.	0.289408	0.34676	N	0.003764	T	0.31263	0.0791	L	0.51422	1.61	0.43579	D	0.995918	P;P;P	0.50156	0.865;0.888;0.932	P;B;P	0.48166	0.488;0.3;0.569	T	0.01290	-1.1394	10	0.19590	T	0.45	-15.2514	15.4336	0.75125	0.0:0.8618:0.1382:0.0	.	348;382;328	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	V	348;328;328;382;348	ENSP00000414351:A348V;ENSP00000337792:A328V;ENSP00000405276:A328V;ENSP00000187397:A382V;ENSP00000412326:A348V	ENSP00000187397:A382V	A	+	2	0	ARPP21	35738250	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.430000	0.52807	2.725000	0.93324	0.655000	0.94253	GCG		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		6	29	6	29	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134967232	134967232	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:134967232G>T	ENST00000398015.3	+	14	2941	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGCTCATGCTGGACTGTT	0.577																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2569-2571)atG>atT		EPH receptor B1							58.0	63.0	61.0					3																	134967232		2203	4300	6503	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967232G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2571G>T	3.37:g.134967232G>T	ENSP00000381097:p.Met857Ile					EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	p.M857I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			14	2941	+			857			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2571G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650094	0.96714	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.85773	-2.03;-2.03	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	L	0.38838	1.175	0.80722	D	1	D	0.58620	0.983	D	0.73380	0.98	D	0.89864	0.4018	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	857	P54762	EPHB1_HUMAN	I	857;418	ENSP00000381097:M857I;ENSP00000419574:M418I	ENSP00000381097:M857I	M	+	3	0	EPHB1	136449922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	ATG		0.577	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		37	76	37	76	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69536088	69536088	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:69536088T>A	ENST00000338206.5	-	1	258	c.249A>T	c.(247-249)aaA>aaT	p.K83N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	83					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	CCAAATAATTTTTAGTTAAAG	0.308																																						ENST00000338206.5																			0											c.(247-249)aaA>aaT		UDP glucuronosyltransferase 2 family, polypeptide B15							78.0	92.0	87.0					4																	69536088		2199	4297	6496	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536088T>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.249A>T	4.37:g.69536088T>A	ENSP00000341045:p.Lys83Asn						p.K83N	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	258	-			83					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.249A>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.985671	0.35036	.	.	ENSG00000196620	ENST00000338206	T	0.61510	0.1	2.58	2.58	0.30949	.	0.747569	0.11660	U	0.541959	T	0.56761	0.2007	L	0.56769	1.78	0.09310	N	1	B	0.31153	0.31	B	0.38921	0.285	T	0.54262	-0.8320	10	0.56958	D	0.05	.	8.6201	0.33855	0.0:0.0:0.0:1.0	.	83	P54855	UDB15_HUMAN	N	83	ENSP00000341045:K83N	ENSP00000341045:K83N	K	-	3	2	UGT2B15	69218683	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	-0.219000	0.09228	1.163000	0.42636	0.363000	0.22086	AAA		0.308	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		31	81	31	81	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155241971	155241971	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:155241971G>A	ENST00000357232.4	-	14	3214	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1072	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACACCAGGGTTCCTATGGG	0.428																																						ENST00000357232.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3214-3216)aCc>aTc		dachsous cadherin-related 2							196.0	202.0	200.0					4																	155241971		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241971G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3215C>T	4.37:g.155241971G>A	ENSP00000349768:p.Thr1072Ile						p.T1072I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3214	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3215C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751597	0.69533	.	.	ENSG00000197410	ENST00000357232	T	0.58210	0.35	5.69	5.69	0.88448	Cadherin (3);Cadherin-like (1);	0.080701	0.50627	D	0.000106	T	0.78723	0.4328	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.80859	-0.1194	10	0.49607	T	0.09	.	19.8145	0.96560	0.0:0.0:1.0:0.0	.	1072	Q6V1P9	PCD23_HUMAN	I	1072	ENSP00000349768:T1072I	ENSP00000349768:T1072I	T	-	2	0	DCHS2	155461421	1.000000	0.71417	0.046000	0.18839	0.630000	0.37929	9.476000	0.97823	2.683000	0.91414	0.563000	0.77884	ACC		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		30	56	30	56	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74325284	74325284	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr5:74325284C>T	ENST00000322348.4	-	1	1440	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	193					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATTCCACAGCCTCTAATTTGG	0.398																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(577-579)gaG>gaA		glucosaminyl (N-acetyl) transferase 4, core 2							94.0	97.0	96.0					5																	74325284		2203	4300	6503	SO:0001819	synonymous_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325284C>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.579G>A	5.37:g.74325284C>T							p.E193E	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1440	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	193						Silent	SNP	ENST00000322348.4	37	c.579G>A	CCDS4026.1																																																																																				0.398	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		22	62	22	62	---	---	---	---
DST	667	broad.mit.edu	37	6	56426236	56426236	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:56426236T>C	ENST00000361203.3	-	53	13554	c.13547A>G	c.(13546-13548)cAa>cGa	p.Q4516R	DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000370754.5_Missense_Mutation_p.Q4696R			Q03001	DYST_HUMAN	dystonin	4516					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGCCTTTTGCAATTTGGA	0.398																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(14086-14088)cAa>cGa		dystonin							221.0	194.0	202.0					6																	56426236		1892	4115	6007	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56426236T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13547A>G	6.37:g.56426236T>C	ENSP00000354508:p.Gln4516Arg					DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R	p.Q4696R			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		57	14086	-	Lung NSC(77;0.103)		4516					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.14087A>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.020871	0.75275	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	6.17	6.17	0.99709	.	0.000000	0.50627	D	0.000118	T	0.56731	0.2005	L	0.57536	1.79	0.23260	N	0.998023	D;P;P;P;B	0.64830	0.994;0.952;0.952;0.565;0.033	D;P;D;B;B	0.76575	0.988;0.879;0.915;0.341;0.033	T	0.54820	-0.8236	9	0.09843	T	0.71	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2430;4518;4696;4516;2104	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	2104;4696;4518;2430;4192;2430;4516	ENSP00000244364:Q2104R;ENSP00000359790:Q4696R;ENSP00000359805:Q4518R;ENSP00000400883:Q2430R;ENSP00000393645:Q4192R;ENSP00000359824:Q2430R;ENSP00000354508:Q4516R	ENSP00000244364:Q2104R	Q	-	2	0	DST	56534195	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	4.186000	0.58337	2.371000	0.80710	0.533000	0.62120	CAA		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	46	4	46	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159654482	159654482	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:159654482C>T	ENST00000297267.9	+	11	3138	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCCCCTGCTCGTCCGCCCGC	0.662																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2938-2940)Cgt>Tgt		fibronectin type III domain containing 1							32.0	39.0	37.0					6																	159654482		2192	4286	6478	SO:0001583	missense	84624					extracellular region		g.chr6:159654482C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2938C>T	6.37:g.159654482C>T	ENSP00000297267:p.Arg980Cys					FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	p.R980C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3138	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	980					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2938C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.50|11.50	1.658719|1.658719	0.29515|0.29515	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09630|.	2.96;3.76|.	3.2|3.2	0.0303|0.0303	0.14166|0.14166	.|.	1.131530|.	0.06576|.	N|.	0.749466|.	T|T	0.18676|0.18676	0.0448|0.0448	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	P|P	0.0|0.0	D;D|.	0.76494|.	0.999;0.999|.	P;P|.	0.56343|.	0.796;0.63|.	T|T	0.12578|0.12578	-1.0542|-1.0542	9|4	0.38643|.	T|.	0.18|.	-0.0179|-0.0179	8.6672|8.6672	0.34127|0.34127	0.6271:0.3729:0.0:0.0|0.6271:0.3729:0.0:0.0	.|.	917;980|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	C|L	980;917|875	ENSP00000297267:R980C;ENSP00000342460:R917C|.	ENSP00000297267:R980C|.	R|S	+|+	1|2	0|0	FNDC1|FNDC1	159574472|159574472	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.300000|0.300000	0.19156|0.19156	-0.006000|-0.006000	0.14370|0.14370	0.555000|0.555000	0.69702|0.69702	CGT|TCG		0.662	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		8	24	8	24	---	---	---	---
ELOVL3	83401	broad.mit.edu	37	10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T	rs199876592		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:103988611C>T	ENST00000370005.3	+	4	636	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	139					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.R139W(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTGCGTAAGCGGCCACTCAT	0.537																																						ENST00000370005.3																			1	Substitution - Missense(1)	p.R139W(1)	lung(1)	breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(415-417)Cgg>Tgg		ELOVL fatty acid elongase 3							141.0	132.0	135.0					10																	103988611		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988611C>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.415C>T	10.37:g.103988611C>T	ENSP00000359022:p.Arg139Trp						p.R139W	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	636	+		Colorectal(252;0.207)	139					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.415C>T	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670501	0.88348	.	.	ENSG00000119915	ENST00000370005	T	0.25414	1.8	5.24	4.33	0.51752	.	0.120655	0.38111	N	0.001807	T	0.54775	0.1879	M	0.86740	2.835	0.47994	D	0.999562	D	0.89917	1.0	D	0.81914	0.995	T	0.62969	-0.6741	10	0.87932	D	0	-8.7231	12.8124	0.57647	0.0:0.9196:0.0:0.0804	.	139	Q9HB03	ELOV3_HUMAN	W	139	ENSP00000359022:R139W	ENSP00000359022:R139W	R	+	1	2	ELOVL3	103978601	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	4.082000	0.57635	1.193000	0.43086	0.561000	0.74099	CGG		0.537	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		36	91	36	91	---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124755532	124755532	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:124755532A>C	ENST00000368886.5	-	4	614	c.294T>G	c.(292-294)atT>atG	p.I98M	IKZF5_ENST00000479103.1_5'Flank|PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGATGTGTTCAATAAGCCGGG	0.483																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(292-294)atT>atG		IKAROS family zinc finger 5 (Pegasus)							145.0	144.0	144.0					10																	124755532		1890	4109	5999	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124755532A>C	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.294T>G	10.37:g.124755532A>C	ENSP00000357881:p.Ile98Met					PSTK_ENST00000497219.1_Intron	p.I98M	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	4	614	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	98					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.294T>G	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101021	0.56183	.	.	ENSG00000095574	ENST00000368886	T	0.35973	1.28	5.87	-9.06	0.00727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.044474	0.85682	D	0.000000	T	0.35038	0.0918	L	0.27975	0.815	0.43029	D	0.994599	D	0.89917	1.0	D	0.91635	0.999	T	0.62728	-0.6793	10	0.26408	T	0.33	-14.4248	13.6332	0.62206	0.2228:0.0:0.6433:0.1339	.	98	Q9H5V7	IKZF5_HUMAN	M	98	ENSP00000357881:I98M	ENSP00000357881:I98M	I	-	3	3	IKZF5	124745522	0.059000	0.20769	0.747000	0.31113	0.989000	0.77384	-0.714000	0.05002	-1.326000	0.02266	-0.290000	0.09829	ATT		0.483	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		5	80	5	80	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46772926	46772926	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:46772926T>C	ENST00000529230.1	-	39	5338	c.5292A>G	c.(5290-5292)ctA>ctG	p.L1764L	MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Silent_p.L1704L|CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000415402.1_Silent_p.L1764L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1764					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATAAGGTGTGTAGCAGGGTCT	0.428																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(5290-5292)ctA>ctG		cytoskeleton associated protein 5							190.0	184.0	186.0					11																	46772926		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46772926T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5292A>G	11.37:g.46772926T>C						CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000354558.3_Silent_p.L1704L|CKAP5_ENST00000415402.1_Silent_p.L1764L	p.L1764L			Q14008	CKAP5_HUMAN			39	5338	-			1764					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.5292A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690137	0.15039	.	.	ENSG00000175216	ENST00000525896	.	.	.	5.72	-1.31	0.09230	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	-12.5506	4.0363	0.09731	0.1204:0.5241:0.0881:0.2674	.	.	.	.	A	3	.	.	T	-	1	0	CKAP5	46729502	0.492000	0.26027	0.974000	0.42286	0.898000	0.52572	-0.153000	0.10144	-0.558000	0.06118	-0.977000	0.02584	ACA		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		37	73	37	73	---	---	---	---
GAB2	9846	broad.mit.edu	37	11	77937837	77937837	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:77937837G>T	ENST00000361507.4	-	4	966	c.881C>A	c.(880-882)aCc>aAc	p.T294N	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	294					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGTCTTGAAGGTGTACACATC	0.592																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(880-882)aCc>aAc		GRB2-associated binding protein 2							77.0	69.0	72.0					11																	77937837		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937837G>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.881C>A	11.37:g.77937837G>T	ENSP00000354952:p.Thr294Asn					GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	p.T294N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	966	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		294					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.881C>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103585	0.37145	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.17854	2.25;2.25	5.69	4.73	0.59995	.	0.154096	0.42548	U	0.000699	T	0.17916	0.0430	L	0.57536	1.79	0.48341	D	0.999634	P	0.47409	0.895	B	0.37943	0.261	T	0.02345	-1.1173	10	0.42905	T	0.14	-24.7356	14.7	0.69150	0.0:0.2653:0.7347:0.0	.	294	Q9UQC2	GAB2_HUMAN	N	256;294	ENSP00000343959:T256N;ENSP00000354952:T294N	ENSP00000343959:T256N	T	-	2	0	GAB2	77615485	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.042000	0.64202	2.700000	0.92200	0.561000	0.74099	ACC		0.592	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		8	79	8	79	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117241960	117241960	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:117241960T>C	ENST00000278935.3	+	9	1077	c.930T>C	c.(928-930)ctT>ctC	p.L310L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	310					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GACCTGGTCTTCCAGAAAAAG	0.562																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(928-930)ctT>ctC		centrosomal protein 164kDa							94.0	101.0	99.0					11																	117241960		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117241960T>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.930T>C	11.37:g.117241960T>C						CEP164_ENST00000533706.1_3'UTR	p.L310L	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1077	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	310					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.930T>C	CCDS31683.1																																																																																				0.562	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		51	95	51	95	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122929413	122929413	+	Missense_Mutation	SNP	A	A	C	rs199504970	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:122929413A>C	ENST00000532636.1	-	7	1568	c.1449T>G	c.(1447-1449)aaT>aaG	p.N483K	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.N483K|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	483					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGTATACCATTGGCATCAA	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1447-1449)aaT>aaG		heat shock 70kDa protein 8							143.0	134.0	137.0					11																	122929413		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929413A>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1449T>G	11.37:g.122929413A>C	ENSP00000437125:p.Asn483Lys					HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K	p.N483K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1725	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	483					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1449T>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305162	0.60305	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	4.45	2.02	0.26589	.	0.110892	0.56097	N	0.000027	T	0.32224	0.0822	H	0.99565	4.63	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.56648	0.803;0.803	T	0.06534	-1.0821	10	0.87932	D	0	-25.2748	5.4401	0.16504	0.7203:0.0:0.1509:0.1288	.	483;483	Q53GZ6;P11142	.;HSP7C_HUMAN	K	483;337;483;483;247;464;74;35	ENSP00000437125:N483K;ENSP00000437189:N337K;ENSP00000432083:N483K;ENSP00000227378:N483K;ENSP00000433316:N247K;ENSP00000433584:N464K;ENSP00000435908:N74K;ENSP00000435019:N35K	ENSP00000227378:N483K	N	-	3	2	HSPA8	122434623	1.000000	0.71417	0.990000	0.47175	0.777000	0.43975	1.071000	0.30666	0.165000	0.19558	-0.496000	0.04628	AAT		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			25	55	25	55	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758894	113758894	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr12:113758894A>T	ENST00000552014.1	-	5	844	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q|SLC8B1_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	110					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										AATCAGAAACAGGTAGAGCAG	0.622																																						ENST00000552014.1																			0											c.(328-330)cTg>cAg		solute carrier family 8 (sodium/lithium/calcium exchanger), member B1							41.0	46.0	44.0					12																	113758894		2203	4300	6503	SO:0001583	missense	80024							g.chr12:113758894A>T	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.329T>A	12.37:g.113758894A>T	ENSP00000447091:p.Leu110Gln					SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q	p.L110Q							5	844	-			110					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.329T>A	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741190	0.69304	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737;ENST00000549181;ENST00000548186	T;T;T;T	0.68025	-0.28;-0.28;-0.3;1.38	5.09	3.87	0.44632	.	0.000000	0.64402	D	0.000013	T	0.82213	0.4988	M	0.86573	2.825	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.85163	0.0993	10	0.87932	D	0	.	11.5657	0.50805	0.8507:0.1493:0.0:0.0	.	110	Q6J4K2	NCKX6_HUMAN	Q	110	ENSP00000447091:L110Q;ENSP00000202831:L110Q;ENSP00000450081:L110Q;ENSP00000448703:L110Q	ENSP00000202831:L110Q	L	-	2	0	SLC24A6	112243277	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.233000	0.65337	1.924000	0.55735	0.402000	0.26972	CTG		0.622	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		20	55	20	55	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84455386	84455386	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr13:84455386C>G	ENST00000377084.2	-	1	1142	c.257G>C	c.(256-258)aGt>aCt	p.S86T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	86					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATGTGCAAACTAACCGCATT	0.453																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(256-258)aGt>aCt		SLIT and NTRK-like family, member 1							70.0	72.0	72.0					13																	84455386		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455386C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.257G>C	13.37:g.84455386C>G	ENSP00000366288:p.Ser86Thr						p.S86T	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1142	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	86					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.257G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	6.493	0.459070	0.12342	.	.	ENSG00000178235	ENST00000377084	T	0.52057	0.68	4.79	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	L	0.35723	1.085	0.43007	D	0.994539	B	0.33103	0.397	B	0.30716	0.119	T	0.12167	-1.0558	10	0.21540	T	0.41	-8.7329	13.1986	0.59754	0.1607:0.8393:0.0:0.0	.	86	Q96PX8	SLIK1_HUMAN	T	86	ENSP00000366288:S86T	ENSP00000366288:S86T	S	-	2	0	SLITRK1	83353387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	1.219000	0.43474	0.561000	0.74099	AGT		0.453	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		29	44	29	44	---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75816566	75816566	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr15:75816566C>T	ENST00000306726.2	-	3	793	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	94	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGAATTTTCCACTGAGGAT	0.388																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(280-282)gGa>gAa		protein tyrosine phosphatase, non-receptor type 9							110.0	102.0	105.0					15																	75816566		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75816566C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.281G>A	15.37:g.75816566C>T	ENSP00000303554:p.Gly94Glu						p.G94E	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			3	793	-			94			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.281G>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582670	0.86748	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.86956	-2.19	5.58	5.58	0.84498	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92801	0.6256	10	0.56958	D	0.05	.	18.1258	0.89585	0.0:1.0:0.0:0.0	.	94	P43378	PTN9_HUMAN	E	94;84	ENSP00000303554:G94E	ENSP00000303554:G94E	G	-	2	0	PTPN9	73603621	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	7.238000	0.78173	2.622000	0.88805	0.491000	0.48974	GGA		0.388	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			3	37	3	37	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3299765	3299765	+	Missense_Mutation	SNP	G	G	A	rs104895155	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:3299765G>A	ENST00000219596.1	-	3	965	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M|MEFV_ENST00000541159.1_Missense_Mutation_p.T98M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	309					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACTCGCAGCCGTGTCTGGTGG	0.602																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50	GRCh37	CM060331	MEFV	M	rs104895155	c.(925-927)aCg>aTg		Mediterranean fever	Colchicine(DB01394)	G	MET/THR,MET/THR	3,4391	6.2+/-15.9	0,3,2194	30.0	34.0	33.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	926,293	0.3	0.0	16	dbSNP_132	33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MEFV	NM_000243.2,NM_001198536.1	81,81	0,4,6493	AA,AG,GG		0.0116,0.0683,0.0308	possibly-damaging,possibly-damaging	309/782,98/446	3299765	4,12990	2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299765G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.926C>T	16.37:g.3299765G>A	ENSP00000219596:p.Thr309Met					MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M	p.T309M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	965	-			309					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.926C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430403	0.12045	6.83E-4	1.16E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64991	-0.13;0.32;0.18;0.27	3.86	0.307	0.15811	.	1.137710	0.06499	N	0.735966	T	0.34337	0.0894	N	0.08118	0	0.09310	N	1	P	0.39116	0.66	B	0.27715	0.082	T	0.26087	-1.0113	10	0.87932	D	0	.	4.7259	0.12941	0.0:0.1067:0.3927:0.5007	.	309	O15553	MEFV_HUMAN	M	309;309;129;98;98;98	ENSP00000219596:T309M;ENSP00000339639:T129M;ENSP00000438711:T98M;ENSP00000445079:T98M	ENSP00000219596:T309M	T	-	2	0	MEFV	3239766	0.013000	0.17824	0.012000	0.15200	0.020000	0.10135	0.351000	0.20096	0.023000	0.15187	-0.525000	0.04345	ACG		0.602	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		7	38	7	38	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87451066	87451066	+	Splice_Site	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:87451066C>G	ENST00000268616.4	-	8	1189	c.972G>C	c.(970-972)aaG>aaC	p.K324N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	324							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACCGACATACCTTCTCCATGG	0.493											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(970-972)aaG>aaC		zinc finger, CCHC domain containing 14							132.0	138.0	136.0					16																	87451066		2198	4300	6498	SO:0001630	splice_region_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451066C>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.972+1G>C	16.37:g.87451066C>G			OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.K324N	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1189	-			324					D3DUN1|O60324|Q3MJD8|Q9UFP0	Splice_Site	SNP	ENST00000268616.4	37	c.972G>C	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520236	0.85495	.	.	ENSG00000140948	ENST00000268616	T	0.51071	0.72	5.69	5.69	0.88448	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.050637	0.85682	D	0.000000	T	0.59321	0.2185	L	0.29908	0.895	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	D;D	0.87578	0.937;0.998	T	0.53954	-0.8365	9	.	.	.	-31.3334	19.8182	0.96579	0.0:1.0:0.0:0.0	.	324;324	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	N	324	ENSP00000268616:K324N	.	K	-	3	2	ZCCHC14	86008567	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.096000	0.76960	2.700000	0.92200	0.561000	0.74099	AAG		0.493	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	Missense_Mutation	64	140	64	140	---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42226166	42226166	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:42226166C>G	ENST00000319977.4	+	3	1232	c.995C>G	c.(994-996)tCt>tGt	p.S332C	C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	332										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGGACTAGCTCTGGATTATTT	0.517																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(994-996)tCt>tGt		chromosome 17 open reading frame 53							243.0	238.0	240.0					17																	42226166		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42226166C>G	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.995C>G	17.37:g.42226166C>G	ENSP00000313500:p.Ser332Cys					C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C	p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1232	+		Breast(137;0.0364)|Prostate(33;0.0376)	332					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.995C>G	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786458	0.31593	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.53857	0.65;0.6	5.44	-0.508	0.11980	.	0.729117	0.12646	N	0.450833	T	0.33352	0.0860	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.051;0.102;0.051	B;B;B	0.24155	0.037;0.051;0.037	T	0.20306	-1.0279	10	0.48119	T	0.1	-0.0681	7.3665	0.26776	0.1183:0.3536:0.4593:0.0688	.	332;332;332	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	C	332	ENSP00000313500:S332C;ENSP00000245382:S332C	ENSP00000245382:S332C	S	+	2	0	C17orf53	39581692	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.927000	0.03984	-0.187000	0.10516	0.561000	0.74099	TCT		0.517	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		93	180	93	180	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6495508	6495508	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:6495508C>G	ENST00000264071.2	-	4	1373	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	334					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TGTTCTTGCTCTGCACGCTCA	0.667																																						ENST00000264071.2																			0											c.(1000-1002)caG>caC		tubulin, beta 4A class IVa							180.0	145.0	157.0					19																	6495508		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495508C>G	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1002G>C	19.37:g.6495508C>G	ENSP00000264071:p.Gln334His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H	p.Q334H			P04350	TBB4_HUMAN			4	1373	-			334					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1002G>C	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298619	0.40694	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85013	-1.93;-1.93	3.43	2.37	0.29283	.	0.000000	0.64402	U	0.000005	D	0.93028	0.7781	M	0.93462	3.42	0.46798	D	0.999209	D	0.89917	1.0	D	0.97110	1.0	D	0.92153	0.5730	10	0.87932	D	0	.	9.4348	0.38632	0.0:0.8868:0.0:0.1132	.	334	P04350	TBB4A_HUMAN	H	334;334;252	ENSP00000264071:Q334H;ENSP00000443590:Q334H	ENSP00000264071:Q334H	Q	-	3	2	TUBB4	6446508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.901000	0.56303	0.423000	0.26033	0.306000	0.20318	CAG		0.667	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		154	286	154	286	---	---	---	---
CEACAM7	1087	broad.mit.edu	37	19	42192031	42192031	+	Splice_Site	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:42192031C>T	ENST00000006724.3	-	1	265	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	CEACAM7_ENST00000338196.4_Splice_Site_p.A22T|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000401731.1_Splice_Site_p.A22T|CEACAM7_ENST00000602225.1_Splice_Site_p.A22T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	22						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTCCCCTCACCTGTGAGCAGG	0.632																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(64-66)Gcc>Acc		carcinoembryonic antigen-related cell adhesion molecule 7							63.0	56.0	58.0					19																	42192031		2203	4300	6503	SO:0001630	splice_region_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42192031C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.64+1G>A	19.37:g.42192031C>T						CEACAM7_ENST00000338196.4_Splice_Site_p.A22T|CEACAM7_ENST00000401731.1_Splice_Site_p.A22T|CEACAM7_ENST00000602225.1_Splice_Site_p.A22T|CEACAM7_ENST00000599715.1_Intron	p.A22T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	1	265	-			22					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Splice_Site	SNP	ENST00000006724.3	37	c.64G>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	19.11	3.764000	0.69878	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.26810	1.71;1.71;4.33	1.67	1.67	0.24075	.	.	.	.	.	T	0.49592	0.1566	M	0.85542	2.76	0.20703	N	0.999867	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.981	T	0.20638	-1.0269	8	.	.	.	.	6.7921	0.23705	0.0:1.0:0.0:0.0	.	22;22	Q14002-2;Q14002	.;CEAM7_HUMAN	T	22	ENSP00000006724:A22T;ENSP00000385932:A22T;ENSP00000343286:A22T	.	A	-	1	0	CEACAM7	46883871	0.999000	0.42202	0.773000	0.31616	0.530000	0.34684	2.551000	0.45820	1.230000	0.43646	0.305000	0.20034	GCC		0.632	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	Missense_Mutation	21	49	21	49	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35237515	35237515	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:35237515C>T	ENST00000381318.3	+	32	4239	c.3951C>T	c.(3949-3951)gaC>gaT	p.D1317D	ITSN1_ENST00000437442.2_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1317	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATTGGAGACATCCTGAGCG	0.617																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3949-3951)gaC>gaT		intersectin 1 (SH3 domain protein)							60.0	44.0	49.0					21																	35237515		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35237515C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3951C>T	21.37:g.35237515C>T						ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|ITSN1_ENST00000437442.2_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	p.D1317D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			32	4239	+			1317			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3951C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	7.322	0.617208	0.14129	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.78	4.89	0.63831	.	.	.	.	.	T	0.64068	0.2565	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61038	-0.7143	4	.	.	.	.	12.4845	0.55863	0.0:0.8681:0.0:0.1319	.	.	.	.	Y	53	.	.	H	+	1	0	ITSN1	34159385	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	2.264000	0.43302	2.726000	0.93360	0.561000	0.74099	CAT		0.617	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		7	26	7	26	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31986568	31986568	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:31986568C>G	ENST00000357033.4	-	45	6708	c.6502G>C	c.(6502-6504)Gaa>Caa	p.E2168Q	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2168					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATTATTTCTTCCCCAGTT	0.448																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6502-6504)Gaa>Caa		dystrophin							98.0	86.0	90.0					X																	31986568		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986568C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6502G>C	X.37:g.31986568C>G	ENSP00000354923:p.Glu2168Gln					DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR	p.E2168Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			45	6708	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2168					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6502G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814906	0.70912	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50277	0.75;0.75	5.37	5.37	0.77165	.	0.000000	0.35936	U	0.002891	T	0.59865	0.2225	L	0.51422	1.61	0.80722	D	1	B;P;P;P;D;B	0.56287	0.291;0.59;0.476;0.643;0.975;0.415	B;B;B;P;P;B	0.57371	0.132;0.384;0.326;0.518;0.819;0.417	T	0.59080	-0.7521	10	0.44086	T	0.13	.	18.2351	0.89947	0.0:1.0:0.0:0.0	.	827;2160;2168;2164;827;824	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	Q	2160;827;824;2164;2168;2168;2045	ENSP00000367948:E2164Q;ENSP00000354923:E2168Q	ENSP00000354923:E2168Q	E	-	1	0	DMD	31896489	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.677000	0.68142	2.244000	0.73946	0.538000	0.68166	GAA		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	26	12	26	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31421540	31421540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr20:31421540delT	ENST00000375571.5	+	3	278	c.139delT	c.(139-141)tttfs	p.F47fs		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	47	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GTATTGTCAGTTTATGGACAT	0.413																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(139-141)tttfs		microtubule-associated protein, RP/EB family, member 1							162.0	146.0	151.0					20																	31421540		2203	4300	6503	SO:0001589	frameshift_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31421540delT	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.139delT	20.37:g.31421540delT	ENSP00000364721:p.Phe47fs						p.F47fs	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			3	278	+			47			CH.		B2R6I7|E1P5M8|Q3KQS8	Frame_Shift_Del	DEL	ENST00000375571.5	37	c.139delT	CCDS13208.1																																																																																				0.413	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		27	48	27	48	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83411191	83411194	+	Frame_Shift_Del	DEL	TCCT	TCCT	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:83411191_83411194delTCCT	ENST00000262752.2	-	3	154_157	c.147_150delAGGA	c.(145-150)gaaggafs	p.EG49fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	49					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTTAACAACTCCTTCATCCTGTA	0.358																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(145-150)gaaggafs		ribosomal protein S6 kinase, 90kDa, polypeptide 6																																				SO:0001589	frameshift_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411191_83411194delTCCT	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.147_150delAGGA	X.37:g.83411191_83411194delTCCT	ENSP00000262752:p.Glu49fs					RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			3	154_157	-			49					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Frame_Shift_Del	DEL	ENST00000262752.2	37	c.147_150delAGGA	CCDS14451.1																																																																																				0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		4	8	4	8	---	---	---	---
