#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SACM1L	22908	broad.mit.edu	37	3	45776852	45776852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:45776852A>G	ENST00000389061.5	+	14	1430	c.1226A>G	c.(1225-1227)cAg>cGg	p.Q409R	SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	409	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTTCACTTCAGGCCCAACTT	0.383																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(1225-1227)cAg>cGg		SAC1 suppressor of actin mutations 1-like (yeast)							141.0	121.0	128.0					3																	45776852		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45776852A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1226A>G	3.37:g.45776852A>G	ENSP00000373713:p.Gln409Arg					SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	p.Q409R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	14	1430	+			409			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1226A>G	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824629	0.71143	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.86	5.86	0.93980	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	L	0.52266	1.64	0.58432	D	0.999999	P;P;P	0.50443	0.83;0.935;0.692	B;P;B	0.55508	0.402;0.777;0.258	T	0.01524	-1.1333	10	0.31617	T	0.26	-3.0607	16.2612	0.82547	1.0:0.0:0.0:0.0	.	348;52;409	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	R	306;409;348;86	ENSP00000396387:Q306R;ENSP00000373713:Q409R;ENSP00000443373:Q348R;ENSP00000412883:Q86R	ENSP00000373713:Q409R	Q	+	2	0	SACM1L	45751856	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.962000	0.93254	2.244000	0.73946	0.477000	0.44152	CAG		0.383	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		3	80	0	0	0	0.009096	0	3	80				
KCNT2	343450	broad.mit.edu	37	1	196398768	196398768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196398768C>A	ENST00000294725.9	-	9	1673	c.758G>T	c.(757-759)tGg>tTg	p.W253L	KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.W253L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	253					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTGGAGGACCATGTTTCAGG	0.408																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(757-759)tGg>tTg		potassium channel, subfamily T, member 2							120.0	105.0	110.0					1																	196398768		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398768C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.758G>T	1.37:g.196398768C>A	ENSP00000294725:p.Trp253Leu					KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.W253L	p.W253L			Q6UVM3	KCNT2_HUMAN			9	859	-			253					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.758G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190536	0.58017	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.22134	1.97;1.97;1.97	5.31	4.34	0.51931	Ion transport 2 (1);	0.273852	0.26522	N	0.023903	T	0.22166	0.0534	L	0.47016	1.485	0.80722	D	1	P;B;B;P	0.36990	0.577;0.327;0.352;0.577	B;B;B;B	0.37304	0.246;0.115;0.138;0.246	T	0.03717	-1.1010	10	0.27082	T	0.32	-9.8035	17.5464	0.87863	0.0:0.8658:0.1342:0.0	.	253;253;253;253	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	L	253;253;74;253	ENSP00000356403:W253L;ENSP00000356401:W253L;ENSP00000294725:W253L	ENSP00000294725:W253L	W	-	2	0	KCNT2	194665391	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.095000	0.71439	2.487000	0.83934	0.655000	0.94253	TGG		0.408	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	28	1	0	4.14922e-12	0.004007	5.60913e-12	15	28				
RNASET2	8635	broad.mit.edu	37	6	167343248	167343248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:167343248T>G	ENST00000508775.1	-	9	1118	c.599A>C	c.(598-600)gAa>gCa	p.E200A	RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000366855.6_Missense_Mutation_p.E162A	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	200					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GAGGCACAGTTCTATCTGACC	0.493																																						ENST00000366855.6																			0				large_intestine(4)|lung(4)	8						c.(484-486)gAa>gCa		ribonuclease T2							90.0	91.0	91.0					6																	167343248		2203	4300	6503	SO:0001583	missense	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167343248T>G	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.599A>C	6.37:g.167343248T>G	ENSP00000426455:p.Glu200Ala					RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A|RP11-514O12.4_ENST00000507747.1_Intron	p.E162A			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	10	1160	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	200					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	c.485A>C	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457421	0.43634	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.57	4.57	0.56435	.	0.052898	0.64402	D	0.000001	T	0.74673	0.3747	L	0.56396	1.775	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.72666	-0.4224	10	0.18710	T	0.47	-14.5902	11.9105	0.52737	0.0:0.0:0.0:1.0	.	250;200	C9JIU8;O00584	.;RNT2_HUMAN	A	162;200;250;200;200	ENSP00000424947:E162A;ENSP00000426455:E200A;ENSP00000422846:E200A;ENSP00000426059:E200A	ENSP00000424947:E162A	E	-	2	0	RNASET2	167263238	0.998000	0.40836	0.880000	0.34516	0.027000	0.11550	4.373000	0.59537	1.682000	0.51000	0.533000	0.62120	GAA		0.493	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		4	161	0	0	0	0.009096	0	4	161				
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr14:105361169A>C	ENST00000414716.3	+	19	4767	c.4539A>C	c.(4537-4539)tcA>tcC	p.S1513S	CEP170B_ENST00000453495.1_Silent_p.S1549S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1548						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711																																						ENST00000453495.1																			7	Substitution - coding silent(7)	p.S1513S(3)|p.S1479S(3)|p.S1478S(1)	prostate(3)|kidney(2)|central_nervous_system(2)								c.(4645-4647)tcA>tcC		centrosomal protein 170B							11.0	15.0	14.0					14																	105361169		1915	4097	6012	SO:0001819	synonymous_variant	283638							g.chr14:105361169A>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4539A>C	14.37:g.105361169A>C						CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S	p.S1549S							19	4875	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4647A>C	CCDS45175.1																																																																																				0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		5	27	0	0	0	0.006214	0	5	27				
KRTAP11-1	337880	broad.mit.edu	37	21	32253539	32253539	+	Missense_Mutation	SNP	C	C	T	rs199869279		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr21:32253539C>T	ENST00000332378.4	-	1	335	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	102						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGTGAGCGGCCGGCTGTAGGT	0.562																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(304-306)cGg>cAg		keratin associated protein 11-1		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	76.0	76.0	76.0		305	3.4	0.6	21		76	0,8600		0,0,4300	yes	missense	KRTAP11-1	NM_175858.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	102/164	32253539	3,13003	2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253539C>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.305G>A	21.37:g.32253539C>T	ENSP00000330720:p.Arg102Gln						p.R102Q	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	335	-			102					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.305G>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904333	0.17760	6.81E-4	0.0	ENSG00000182591	ENST00000332378	T	0.03301	3.98	5.25	3.43	0.39272	.	0.663319	0.13432	N	0.388317	T	0.02688	0.0081	N	0.25647	0.755	0.31417	N	0.674792	P	0.37781	0.608	B	0.31290	0.127	T	0.33007	-0.9885	10	0.13853	T	0.58	-3.189	10.3388	0.43864	0.0:0.8358:0.0:0.1642	.	102	Q8IUC1	KR111_HUMAN	Q	102	ENSP00000330720:R102Q	ENSP00000330720:R102Q	R	-	2	0	KRTAP11-1	31175410	0.989000	0.36119	0.634000	0.29324	0.391000	0.30476	0.811000	0.27198	0.732000	0.32470	0.650000	0.86243	CGG		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			36	51	0	0	0	0.003271	0	36	51				
DHX30	22907	broad.mit.edu	37	3	47884611	47884611	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:47884611C>G	ENST00000445061.1	+	9	1212	c.805C>G	c.(805-807)Cat>Gat	p.H269D	DHX30_ENST00000446256.2_Missense_Mutation_p.H230D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D|DHX30_ENST00000348968.4_Missense_Mutation_p.H241D	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	269						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATGCAGTTCCATACTGTGGG	0.537																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(688-690)Cat>Gat		DEAH (Asp-Glu-Ala-His) box helicase 30							163.0	151.0	155.0					3																	47884611		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47884611C>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.805C>G	3.37:g.47884611C>G	ENSP00000405620:p.His269Asp					DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D	p.H230D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1260	+			269					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.688C>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846876	0.51164	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03124	4.06;4.05;4.06;4.04	5.26	5.26	0.73747	.	0.206113	0.42420	D	0.000710	T	0.06234	0.0161	L	0.46157	1.445	0.36256	D	0.854257	B;B	0.22604	0.072;0.056	B;B	0.20767	0.031;0.029	T	0.18555	-1.0333	10	0.66056	D	0.02	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	269;230	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	D	230;269;241;297	ENSP00000392601:H230D;ENSP00000405620:H269D;ENSP00000343442:H241D;ENSP00000394682:H297D	ENSP00000343442:H241D	H	+	1	0	DHX30	47859615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.496000	0.53288	2.451000	0.82905	0.591000	0.81541	CAT		0.537	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		56	143	0	0	0	0.003610	0	56	143				
GABRA3	2556	broad.mit.edu	37	X	151514068	151514068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:151514068G>A	ENST00000370314.4	-	3	485	c.247C>T	c.(247-249)Cga>Tga	p.R83*	GABRA3_ENST00000535043.1_Nonsense_Mutation_p.R83*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	83					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCCCAGGTCGCAGCCGGTTG	0.453																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(247-249)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	101.0	104.0					X																	151514068		2203	4300	6503	SO:0001587	stop_gained	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151514068G>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.247C>T	X.37:g.151514068G>A	ENSP00000359337:p.Arg83*					GABRA3_ENST00000535043.1_Nonsense_Mutation_p.R83*|GABRA3_ENST00000370311.1_Nonsense_Mutation_p.R83*	p.R83*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			3	485	-	Acute lymphoblastic leukemia(192;6.56e-05)		83					Q8TAF9	Nonsense_Mutation	SNP	ENST00000370314.4	37	c.247C>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	38	6.995830	0.97990	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	.	.	.	5.71	1.29	0.21616	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1017	0.59224	0.0:0.0:0.2522:0.7478	.	.	.	.	X	83	.	ENSP00000359334:R83X	R	-	1	2	GABRA3	151264724	0.958000	0.32768	0.879000	0.34478	0.958000	0.62258	1.456000	0.35201	0.160000	0.19432	0.509000	0.49947	CGA		0.453	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		4	55	0	0	0	0.009096	0	4	55				
FAM135B	51059	broad.mit.edu	37	8	139209802	139209802	+	Silent	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:139209802C>T	ENST00000395297.1	-	8	950	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	260										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGATCACCAGGAAGTGGA	0.617										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(778-780)ctG>ctA		family with sequence similarity 135, member B							63.0	73.0	70.0					8																	139209802		2144	4264	6408	SO:0001819	synonymous_variant	51059							g.chr8:139209802C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.780G>A	8.37:g.139209802C>T		HNSCC(54;0.14)					p.L260L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	950	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		260					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.780G>A	CCDS6375.2																																																																																				0.617	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	69	0	0	0	0.001855	0	14	69				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	68	0	0	0	0.004482	0	8	68				
AKAP9	10142	broad.mit.edu	37	7	91621525	91621525	+	Splice_Site	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:91621525G>T	ENST00000359028.2	+	5	666	c.441G>T	c.(439-441)agG>agT	p.R147S	AKAP9_ENST00000394564.1_Splice_Site_p.R135S|AKAP9_ENST00000358100.2_Splice_Site_p.R147S|AKAP9_ENST00000356239.3_Splice_Site_p.R135S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	147					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTATTAAGGGTACAGTATT	0.294			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e5+1		A kinase (PRKA) anchor protein 9							90.0	107.0	101.0					7																	91621525		2203	4295	6498	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91621525G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.441+1G>T	7.37:g.91621525G>T						AKAP9_ENST00000394564.1_Splice_Site_p.R135_splice|AKAP9_ENST00000358100.2_Splice_Site_p.R147_splice|AKAP9_ENST00000356239.3_Splice_Site_p.R135_splice	p.R147_splice			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	666	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		147					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37	c.441_splice		.	.	.	.	.	.	.	.	.	.	G	17.32	3.359996	0.61403	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.41	5.41	0.78517	.	0.000000	0.36815	N	0.002391	T	0.34571	0.0902	M	0.63843	1.955	0.49582	D	0.999809	D;D;D;P	0.67145	0.989;0.989;0.996;0.925	P;P;P;P	0.61658	0.787;0.787;0.892;0.691	T	0.02093	-1.1215	10	0.66056	D	0.02	.	19.5512	0.95322	0.0:0.0:1.0:0.0	.	135;135;147;135	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	S	135;147;147;147;147;135	ENSP00000348573:R135S;ENSP00000351922:R147S;ENSP00000350813:R147S;ENSP00000378065:R135S	ENSP00000348573:R135S	R	+	3	2	AKAP9	91459461	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.055000	0.64282	2.685000	0.91497	0.650000	0.86243	AGG		0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Missense_Mutation	16	128	1	0	1.15088e-07	0.004007	1.50025e-07	16	128				
KIAA0907	22889	broad.mit.edu	37	1	155891693	155891693	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:155891693G>C	ENST00000368321.3	-	9	994	c.971C>G	c.(970-972)tCt>tGt	p.S324C	KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.S324C|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	324							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CACAAATCTAGAGTATTCAGC	0.363																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(970-972)tCt>tGt		KIAA0907							69.0	69.0	69.0					1																	155891693		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155891693G>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.971C>G	1.37:g.155891693G>C	ENSP00000357304:p.Ser324Cys					KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C	p.S324C			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		9	996	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		324					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.971C>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986772	0.74589	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.46819	0.86;0.86;0.86	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	L	0.50333	1.59	0.80722	D	1	D;P;P	0.53151	0.958;0.9;0.9	P;P;P	0.52554	0.702;0.614;0.542	T	0.48364	-0.9042	10	0.66056	D	0.02	-17.2111	18.1253	0.89584	0.0:0.0:1.0:0.0	.	324;324;324	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	C	324	ENSP00000357304:S324C;ENSP00000357303:S324C;ENSP00000357302:S324C	ENSP00000357302:S324C	S	-	2	0	KIAA0907	154158317	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.684000	0.84104	2.821000	0.97095	0.484000	0.47621	TCT		0.363	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		9	24	0	0	0	0.004482	0	9	24				
TINAG	27283	broad.mit.edu	37	6	54219401	54219401	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:54219401G>A	ENST00000259782.4	+	9	1313	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAAAAATATCGAAAGCTTCAG	0.318																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1216-1218)cGa>cAa		tubulointerstitial nephritis antigen							67.0	67.0	67.0					6																	54219401		2202	4298	6500	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54219401G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1217G>A	6.37:g.54219401G>A	ENSP00000259782:p.Arg406Gln						p.R406Q	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		9	1313	+	Lung NSC(77;0.0518)		406					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1217G>A	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435696	0.25813	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83914	-1.78	5.54	-6.78	0.01721	Peptidase C1A, papain C-terminal (2);	0.986368	0.08253	N	0.974253	T	0.53818	0.1820	L	0.28274	0.84	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37753	-0.9692	10	0.39692	T	0.17	.	15.4654	0.75397	0.6411:0.0:0.3589:0.0	.	406	Q9UJW2	TINAG_HUMAN	Q	265;406;85	ENSP00000259782:R406Q	ENSP00000259782:R406Q	R	+	2	0	TINAG	54327360	0.033000	0.19621	0.013000	0.15412	0.657000	0.38888	-1.722000	0.01868	-1.600000	0.01603	-0.794000	0.03295	CGA		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		5	52	0	0	0	0.000602	0	5	52				
NHS	4810	broad.mit.edu	37	X	17705984	17705984	+	Missense_Mutation	SNP	G	G	A	rs78153843	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:17705984G>A	ENST00000380060.3	+	2	1026	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	NHS_ENST00000398097.3_Missense_Mutation_p.A53T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	230	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCCACGCCCGGCAGAG	0.647													G|||	2	0.000529801	0.0015	0.0	3775	,	,		11017	0.0		0.0	False		,,,				2504	0.0					ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(688-690)Gcc>Acc		Nance-Horan syndrome (congenital cataracts and dental anomalies)		G	THR/ALA,THR/ALA	9,3826		0,8,1,1624,570	39.0	34.0	36.0		157,688	4.8	0.8	X	dbSNP_131	36	0,6728		0,0,0,2428,1872	yes	missense,missense	NHS	NM_001136024.2,NM_198270.2	58,58	0,8,1,4052,2442	AA,AG,A,GG,G		0.0,0.2347,0.0852	possibly-damaging,possibly-damaging	53/1475,230/1631	17705984	9,10554	2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17705984G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.688G>A	X.37:g.17705984G>A	ENSP00000369400:p.Ala230Thr					NHS_ENST00000398097.3_Missense_Mutation_p.A53T	p.A230T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			2	1026	+	Hepatocellular(33;0.183)		230					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.688G>A	CCDS14181.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.9	4.688918	0.88735	0.002347	0.0	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.81163	-1.46;-0.83	5.63	4.75	0.60458	.	0.056759	0.64402	D	0.000001	D	0.88837	0.6545	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.995;0.995;0.999	P;P;P;P	0.62014	0.897;0.855;0.855;0.897	D	0.90173	0.4237	10	0.87932	D	0	-14.7866	15.4853	0.75560	0.0:0.1352:0.8648:0.0	.	230;51;53;230	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	T	230;53;51	ENSP00000369400:A230T;ENSP00000381170:A53T	ENSP00000369397:A51T	A	+	1	0	NHS	17615905	1.000000	0.71417	0.759000	0.31340	0.664000	0.39144	9.476000	0.97823	1.088000	0.41272	0.513000	0.50165	GCC		0.647	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		8	28	0	0	0	0.006214	0	8	28				
A4GNT	51146	broad.mit.edu	37	3	137849815	137849815	+	Missense_Mutation	SNP	G	G	A	rs145157166	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:137849815G>A	ENST00000236709.3	-	2	485	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	95					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGAGGGCATCGGTGTGGAATC	0.478													G|||	5	0.000998403	0.0	0.0043	5008	,	,		20927	0.001		0.001	False		,,,				2504	0.0					ENST00000236709.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(283-285)cCg>cTg		alpha-1,4-N-acetylglucosaminyltransferase		G	LEU/PRO	0,4406		0,0,2203	116.0	118.0	117.0		284	-5.3	0.0	3	dbSNP_134	117	9,8591	7.1+/-27.0	0,9,4291	yes	missense	A4GNT	NM_016161.2	98	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	benign	95/341	137849815	9,12997	2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849815G>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.284C>T	3.37:g.137849815G>A	ENSP00000236709:p.Pro95Leu						p.P95L	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			2	485	-			95					Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.284C>T	CCDS3097.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	0.559	-0.846139	0.02671	0.0	0.001047	ENSG00000118017	ENST00000236709	T	0.80033	-1.33	5.27	-5.33	0.02713	Glycosyltransferase, DXD sugar-binding motif (1);	1.430170	0.04722	N	0.419576	T	0.55097	0.1899	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.27785	T	0.31	-0.6497	0.873	0.01218	0.3856:0.1929:0.2603:0.1612	.	95	Q9UNA3	A4GCT_HUMAN	L	95	ENSP00000236709:P95L	ENSP00000236709:P95L	P	-	2	0	A4GNT	139332505	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.727000	0.04931	-1.399000	0.02063	-2.566000	0.00172	CCG		0.478	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		52	70	0	0	0	0.003610	0	52	70				
KCNT2	343450	broad.mit.edu	37	1	196285089	196285089	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196285089T>A	ENST00000294725.9	-	21	3331	c.2416A>T	c.(2416-2418)Acc>Tcc	p.T806S	KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.T782S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	806					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCACTCATGGTGCTCTCTTTA	0.433																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2344-2346)Acc>Tcc		potassium channel, subfamily T, member 2							140.0	114.0	123.0					1																	196285089		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196285089T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2416A>T	1.37:g.196285089T>A	ENSP00000294725:p.Thr806Ser					KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T806S	p.T782S			Q6UVM3	KCNT2_HUMAN			20	2445	-			806					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2344A>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914311	0.33815	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.72725	-0.68;-0.68;-0.68	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	T	0.47820	0.1466	N	0.04686	-0.185	0.80722	D	1	B;B;B;B;B	0.25521	0.008;0.128;0.028;0.028;0.008	B;B;B;B;B	0.25405	0.02;0.06;0.03;0.028;0.02	T	0.51733	-0.8668	10	0.02654	T	1	-17.3478	16.2853	0.82717	0.0:0.0:0.0:1.0	.	806;764;782;732;806	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	782;732;806	ENSP00000356403:T782S;ENSP00000356401:T732S;ENSP00000294725:T806S	ENSP00000294725:T806S	T	-	1	0	KCNT2	194551712	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.194000	0.72082	2.236000	0.73375	0.528000	0.53228	ACC		0.433	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		14	23	0	0	0	0.003163	0	14	23				
PIDD1	55367	broad.mit.edu	37	11	803450	803450	+	Silent	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:803450G>A	ENST00000347755.5	-	3	574	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	PIDD_ENST00000411829.2_Silent_p.L145L|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CGCATCTGCAGGACACAGGCC	0.657																																						ENST00000347755.5																			0											c.(433-435)Ctg>Ttg		p53-induced death domain protein							67.0	70.0	69.0					11																	803450		2203	4299	6502	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803450G>A																												ENST00000347755.5:c.433C>T	11.37:g.803450G>A						PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L145L	p.L145L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			3	574	-			145						Silent	SNP	ENST00000347755.5	37	c.433C>T	CCDS7716.1																																																																																				0.657	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			4	85	0	0	0	0.001168	0	4	85				
ARL6	84100	broad.mit.edu	37	3	97499479	97499479	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:97499479A>G	ENST00000463745.1	+	4	683	c.206A>G	c.(205-207)gAc>gGc	p.D69G	ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.D69G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	69					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ACAGTGTTTGACATGTCAGGT	0.269																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(205-207)gAc>gGc		ADP-ribosylation factor-like 6							148.0	153.0	152.0					3																	97499479		2203	4295	6498	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97499479A>G	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.206A>G	3.37:g.97499479A>G	ENSP00000419619:p.Asp69Gly					ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR	p.D69G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	4	683	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	69					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.206A>G	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596909	0.87055	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.042277	0.85682	D	0.000000	D	0.98858	0.9614	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99274	1.0894	10	0.87932	D	0	.	15.2838	0.73810	1.0:0.0:0.0:0.0	.	69	Q9H0F7	ARL6_HUMAN	G	69	ENSP00000419619:D69G;ENSP00000418740:D69G;ENSP00000337722:D69G;ENSP00000377756:D69G	ENSP00000337722:D69G	D	+	2	0	ARL6	98982169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.838000	0.92115	2.150000	0.67090	0.519000	0.50382	GAC		0.269	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		3	85	0	0	0	0.009096	0	3	85				
SCN8A	6334	broad.mit.edu	37	12	52200655	52200655	+	Silent	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:52200655C>T	ENST00000354534.6	+	27	5563	c.5385C>T	c.(5383-5385)ttC>ttT	p.F1795F	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Silent_p.F1754F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1795					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGGAGAAGTTCGACCCCGATG	0.517																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5383-5385)ttC>ttT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						100.0	105.0	103.0					12																	52200655		2199	4300	6499	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200655C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5385C>T	12.37:g.52200655C>T						SCN8A_ENST00000545061.1_Silent_p.F1754F	p.F1795F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5563	+			1795					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5385C>T	CCDS44891.1																																																																																				0.517	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		56	69	0	0	0	0.003610	0	56	69				
MAP3K12	7786	broad.mit.edu	37	12	53878999	53878999	+	Splice_Site	SNP	C	C	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:53878999C>G	ENST00000267079.2	-	7	1107		c.e7-1		MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCCAAAGGACCTAGGGATGAG	0.542																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.e7-1		mitogen-activated protein kinase kinase kinase 12							106.0	93.0	98.0					12																	53878999		2203	4300	6503	SO:0001630	splice_region_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53878999C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.882-1G>C	12.37:g.53878999C>G						MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site		NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			7	1107	-								B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Splice_Site	SNP	ENST00000267079.2	37		CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851489	0.51270	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7353	0.85445	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K12	52165266	1.000000	0.71417	0.997000	0.53966	0.552000	0.35366	7.794000	0.85869	2.319000	0.78375	0.561000	0.74099	.		0.542	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	Intron	23	50	0	0	0	0.002780	0	23	50				
TRIM29	23650	broad.mit.edu	37	11	120008221	120008221	+	Silent	SNP	G	G	A	rs371202079		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:120008221G>A	ENST00000341846.5	-	1	940	c.519C>T	c.(517-519)tgC>tgT	p.C173C		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	173					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGCAGGAGTCGCACAGCACCT	0.662																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(517-519)tgC>tgT		tripartite motif containing 29		G		0,4406		0,0,2203	32.0	37.0	36.0		519	-3.0	1.0	11		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM29	NM_012101.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		173/589	120008221	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008221G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.519C>T	11.37:g.120008221G>A							p.C173C	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	940	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	173					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.519C>T	CCDS8428.1																																																																																				0.662	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		11	59	0	0	0	0.008291	0	11	59				
GK5	256356	broad.mit.edu	37	3	141896383	141896383	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:141896383C>A	ENST00000392993.2	-	12	1235	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	362					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AAACTTTTGGCCATTTTTTCA	0.333																																						ENST00000392993.2																			0				kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						c.(1084-1086)Gcc>Tcc		glycerol kinase 5 (putative)							117.0	124.0	122.0					3																	141896383		2203	4300	6503	SO:0001583	missense	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141896383C>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1084G>T	3.37:g.141896383C>A	ENSP00000418001:p.Ala362Ser						p.A362S	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN			12	1235	-			362					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	c.1084G>T	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914354	0.92178	.	.	ENSG00000175066	ENST00000392993;ENST00000486459	D;D	0.86769	-2.17;-2.17	5.3	5.3	0.74995	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.95944	0.8949	10	0.87932	D	0	-12.9926	18.0879	0.89463	0.0:1.0:0.0:0.0	.	362	Q6ZS86	GLPK5_HUMAN	S	362;16	ENSP00000418001:A362S;ENSP00000420593:A16S	ENSP00000418001:A362S	A	-	1	0	GK5	143379073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.532000	0.73825	2.631000	0.89168	0.585000	0.79938	GCC		0.333	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		13	107	1	0	6.31663e-08	0.003163	8.38389e-08	13	107				
SYT5	6861	broad.mit.edu	37	19	55687185	55687185	+	Silent	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:55687185C>T	ENST00000354308.3	-	5	801	c.432G>A	c.(430-432)tcG>tcA	p.S144S	SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.S144S|SYT5_ENST00000590851.1_Silent_p.S141S	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	144	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATAGGGGTCCGAGGAGCCAC	0.622																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(430-432)tcG>tcA		synaptotagmin V							83.0	85.0	85.0					19																	55687185		2203	4300	6503	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687185C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.432G>A	19.37:g.55687185C>T						SYT5_ENST00000590851.1_Silent_p.S141S|SYT5_ENST00000537500.1_Silent_p.S144S|CTD-2587H24.5_ENST00000591665.1_RNA	p.S144S	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	801	-			144			C2 1.		B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	c.432G>A	CCDS12919.1																																																																																				0.622	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		40	68	0	0	0	0.007835	0	40	68				
IL20	50604	broad.mit.edu	37	1	207040805	207040805	+	Splice_Site	SNP	T	T	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:207040805T>C	ENST00000367098.1	+	5	816		c.e5+2		IL20_ENST00000391930.2_Intron|IL20_ENST00000367096.3_Splice_Site			Q9UHF5	IL17B_HUMAN	interleukin 20						cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTTGAAAAGGTATATGCGACT	0.428																																						ENST00000367098.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9						c.e5+2		interleukin 20							190.0	179.0	183.0					1																	207040805		2203	4300	6503	SO:0001630	splice_region_variant	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207040805T>C	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.453+2T>C	1.37:g.207040805T>C						IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron				Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	5	816	+	Breast(84;0.201)							Q14CE5	Splice_Site	SNP	ENST00000367098.1	37		CCDS1470.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746147	0.30955	.	.	ENSG00000162891	ENST00000367098;ENST00000367096	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2456	0.54568	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL20	205107428	1.000000	0.71417	0.866000	0.34008	0.222000	0.24845	4.309000	0.59135	2.141000	0.66446	0.528000	0.53228	.		0.428	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724	Intron	3	70	0	0	0	0.004672	0	3	70				
LOC645752	645752	broad.mit.edu	37	15	78217290	78217290	+	lincRNA	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:78217290G>A	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							CCCCAGGTGAGTGGCAACCAC	0.527																																						ENST00000567226.1																			0																																																			0							g.chr15:78217290G>A																													15.37:g.78217290G>A														0	212	-									RNA	SNP	ENST00000565869.1	37																																																																																						0.527	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	102	0	0	0	0.001984	0	6	102				
JAKMIP1	152789	broad.mit.edu	37	4	6107489	6107489	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:6107489C>T	ENST00000282924.5	-	3	820	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	112	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTGCAGCCGCTGCAGCTC	0.716																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(334-336)cGg>cAg		janus kinase and microtubule interacting protein 1							12.0	13.0	13.0					4																	6107489		2093	4139	6232	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107489C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.335G>A	4.37:g.6107489C>T	ENSP00000282924:p.Arg112Gln					JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q	p.R112Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			3	784	-			112			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.335G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898198	0.91962	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.37752	1.18;1.18;1.18	4.6	3.73	0.42828	.	0.000000	0.64402	D	0.000004	T	0.58680	0.2139	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.998;0.994;1.0	P;P;D	0.81914	0.786;0.566;0.995	T	0.58775	-0.7577	10	0.27082	T	0.32	.	13.1875	0.59691	0.1608:0.8392:0.0:0.0	.	112;112;112	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	Q	112	ENSP00000386711:R112Q;ENSP00000282924:R112Q;ENSP00000386925:R112Q	ENSP00000282924:R112Q	R	-	2	0	JAKMIP1	6158390	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.334000	0.79224	1.009000	0.39289	0.484000	0.47621	CGG		0.716	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		6	23	0	0	0	0.001168	0	6	23				
HRAS	3265	broad.mit.edu	37	11	533476	533476	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:533476C>T	ENST00000451590.1	-	4	614	c.427G>A	c.(427-429)Gag>Aag	p.E143K	HRAS_ENST00000311189.7_Missense_Mutation_p.E143K|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000417302.1_Missense_Mutation_p.E143K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	143					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGAGGTCTCGATGTAGGGG	0.677		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(427-429)Gag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						119.0	115.0	117.0					11																	533476		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533476C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.427G>A	11.37:g.533476C>T	ENSP00000407586:p.Glu143Lys	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000451590.1_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K	p.E143K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	614	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	143					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.427G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527807	0.64860	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	H	0.97265	3.97	0.80722	D	1	D;D	0.58620	0.983;0.973	P;P	0.52672	0.581;0.706	D	0.92839	0.6287	10	0.72032	D	0.01	.	10.5508	0.45087	0.0:0.9029:0.0:0.0971	.	143;143	P01112-2;P01112	.;RASH_HUMAN	K	143	ENSP00000380722:E143K;ENSP00000380723:E143K;ENSP00000407586:E143K;ENSP00000388246:E143K;ENSP00000309845:E143K	ENSP00000309845:E143K	E	-	1	0	HRAS	523476	1.000000	0.71417	0.379000	0.26080	0.177000	0.22998	5.932000	0.70121	1.997000	0.58415	0.561000	0.74099	GAG		0.677	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		24	127	0	0	0	0.003954	0	24	127				
QTRT1	81890	broad.mit.edu	37	19	10812880	10812880	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:10812880A>G	ENST00000250237.5	+	3	411	c.401A>G	c.(400-402)aAt>aGt	p.N134S	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	134					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TACGACGGCAATGAGACCCTG	0.637																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(400-402)aAt>aGt		queuine tRNA-ribosyltransferase 1							53.0	55.0	54.0					19																	10812880		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10812880A>G	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.401A>G	19.37:g.10812880A>G	ENSP00000250237:p.Asn134Ser					QTRT1_ENST00000585885.1_3'UTR	p.N134S	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		3	411	+			134					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.401A>G	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	A	2.192	-0.385148	0.04966	.	.	ENSG00000213339	ENST00000250237;ENST00000421333	.	.	.	5.37	1.86	0.25419	.	0.717075	0.12561	U	0.458192	T	0.02970	0.0088	N	0.00013	-2.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	9	0.02654	T	1	-4.3628	8.0729	0.30699	0.729:0.1857:0.0854:0.0	.	134	Q9BXR0	TGT_HUMAN	S	134	.	ENSP00000250237:N134S	N	+	2	0	QTRT1	10673880	0.015000	0.18098	0.007000	0.13788	0.869000	0.49853	2.523000	0.45580	0.310000	0.22990	-0.450000	0.05554	AAT		0.637	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		25	58	0	0	0	0.007291	0	25	58				
SHMT2	6472	broad.mit.edu	37	12	57626237	57626237	+	Splice_Site	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:57626237C>T	ENST00000328923.3	+	6	1048	c.596C>T	c.(595-597)cCc>cTc	p.P199L	SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000393827.4_Missense_Mutation_p.P103L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	199					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TCTGTCCAGCCCAAAACTGGC	0.587																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000393827.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(307-309)cCc>cTc		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						102.0	101.0	101.0					12																	57626237		2203	4300	6503	SO:0001630	splice_region_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626237C>T	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.595-1C>T	12.37:g.57626237C>T						SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Splice_Site_p.P178_splice|SHMT2_ENST00000414700.3_Splice_Site_p.P178_splice|SHMT2_ENST00000328923.3_Splice_Site_p.P199_splice|SHMT2_ENST00000553474.1_Splice_Site_p.P178_splice	p.P103L			P34897	GLYM_HUMAN			5	564	+			199					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	c.308C>T	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762605	0.49574	.	.	ENSG00000182199	ENST00000328923;ENST00000555634;ENST00000414700;ENST00000553474;ENST00000554975;ENST00000449049;ENST00000393827	T;T;T;T;T;T;T	0.42131	1.51;0.98;1.51;1.51;1.51;1.51;0.98	4.82	4.82	0.62117	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.061048	0.64402	D	0.000004	T	0.48003	0.1476	M	0.64170	1.965	0.80722	D	1	P;P;P;D	0.53151	0.505;0.81;0.505;0.958	B;P;B;B	0.47402	0.17;0.546;0.105;0.377	T	0.40384	-0.9566	10	0.27082	T	0.32	-3.4385	17.2132	0.86936	0.0:1.0:0.0:0.0	.	208;103;130;199	B4DWA7;B4DLV4;B4DP88;P34897	.;.;.;GLYM_HUMAN	L	199;38;178;178;178;178;103	ENSP00000333667:P199L;ENSP00000450930:P38L;ENSP00000406881:P178L;ENSP00000452419:P178L;ENSP00000452404:P178L;ENSP00000413770:P178L;ENSP00000377413:P103L	ENSP00000333667:P199L	P	+	2	0	SHMT2	55912504	0.997000	0.39634	0.991000	0.47740	0.510000	0.34073	3.731000	0.55013	2.667000	0.90743	0.563000	0.77884	CCC		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	Missense_Mutation	43	105	0	0	0	0.008740	0	43	105				
OTOP3	347741	broad.mit.edu	37	17	72937760	72937760	+	Missense_Mutation	SNP	G	G	A	rs573473452		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:72937760G>A	ENST00000328801.4	+	2	346	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	116						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CAAGGTGGCCGTCACTCTGGG	0.607																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(346-348)Gtc>Atc		otopetrin 3							81.0	65.0	70.0					17																	72937760		2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937760G>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.346G>A	17.37:g.72937760G>A	ENSP00000328090:p.Val116Ile						p.V116I	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	346	+	all_lung(278;0.151)|Lung NSC(278;0.185)		116						Missense_Mutation	SNP	ENST00000328801.4	37	c.346G>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	G	4.020	0.001174	0.07819	.	.	ENSG00000182938	ENST00000328801	T	0.09630	2.96	4.86	-8.39	0.00969	.	1.266200	0.05586	N	0.573688	T	0.05777	0.0151	N	0.13352	0.335	0.22001	N	0.999421	B	0.19331	0.035	B	0.14578	0.011	T	0.45086	-0.9285	10	0.07813	T	0.8	-18.1317	16.4073	0.83684	0.6924:0.0:0.3076:0.0	.	116	Q7RTS5	OTOP3_HUMAN	I	116	ENSP00000328090:V116I	ENSP00000328090:V116I	V	+	1	0	OTOP3	70449355	0.001000	0.12720	0.029000	0.17559	0.566000	0.35808	-0.158000	0.10070	-1.621000	0.01562	-1.244000	0.01528	GTC		0.607	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		11	83	0	0	0	0.001855	0	11	83				
ANKRD17	26057	broad.mit.edu	37	4	73968249	73968249	+	Missense_Mutation	SNP	G	G	A	rs143314189	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:73968249G>A	ENST00000358602.4	-	25	4533	c.4417C>T	c.(4417-4419)Cgg>Tgg	p.R1473W	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1222W|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1360W	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1473					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCAGCCTCCGACTTTCTTCC	0.343																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4417-4419)Cgg>Tgg		ankyrin repeat domain 17							64.0	63.0	63.0					4																	73968249		2202	4300	6502	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73968249G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4417C>T	4.37:g.73968249G>A	ENSP00000351416:p.Arg1473Trp					ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1222W|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1360W	p.R1473W	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		25	4533	-	Breast(15;0.000295)		1473					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4417C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106778	0.56291	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.70045	1.51;-0.4;-0.45	5.69	2.68	0.31781	.	0.355747	0.21273	N	0.077285	T	0.71584	0.3357	L	0.36672	1.1	0.37881	D	0.930373	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;P;P	0.66196	0.942;0.942;0.877;0.825	T	0.76002	-0.3118	10	0.87932	D	0	.	13.0324	0.58848	0.0:0.0:0.3367:0.6632	.	1472;1222;1473;1360	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	W	1473;1222;1360	ENSP00000351416:R1473W;ENSP00000332265:R1222W;ENSP00000427151:R1360W	ENSP00000332265:R1222W	R	-	1	2	ANKRD17	74187113	1.000000	0.71417	0.938000	0.37757	0.998000	0.95712	2.549000	0.45803	0.735000	0.32537	0.585000	0.79938	CGG		0.343	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		15	26	0	0	0	0.004007	0	15	26				
TTF2	8458	broad.mit.edu	37	1	117631499	117631499	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:117631499G>A	ENST00000369466.4	+	13	2281	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	746	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGAATCCCCGAGTGCAGACT	0.473																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2236-2238)cGa>cAa		transcription termination factor, RNA polymerase II							136.0	135.0	135.0					1																	117631499		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117631499G>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2237G>A	1.37:g.117631499G>A	ENSP00000358478:p.Arg746Gln						p.R746Q	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	13	2281	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	746			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2237G>A	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561046	0.86335	.	.	ENSG00000116830	ENST00000369466	D	0.93189	-3.18	5.8	4.88	0.63580	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.33092	N	0.005285	D	0.91713	0.7380	L	0.37800	1.135	0.40263	D	0.978195	D	0.89917	1.0	D	0.75020	0.985	D	0.92063	0.5658	10	0.49607	T	0.09	-10.0536	8.5304	0.33331	0.1709:0.0:0.8291:0.0	.	746	Q9UNY4	TTF2_HUMAN	Q	746	ENSP00000358478:R746Q	ENSP00000358478:R746Q	R	+	2	0	TTF2	117433022	0.838000	0.29461	0.996000	0.52242	0.946000	0.59487	2.904000	0.48719	1.454000	0.47793	0.650000	0.86243	CGA		0.473	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			5	171	0	0	0	0.001168	0	5	171				
C3	718	broad.mit.edu	37	19	6707522	6707522	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:6707522G>A	ENST00000245907.6	-	16	2094	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	668					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGGCGTCGGCGGGCGGCTGGC	0.652																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2002-2004)Cgc>Tgc		complement component 3							39.0	49.0	46.0					19																	6707522		2203	4299	6502	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707522G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2002C>T	19.37:g.6707522G>A	ENSP00000245907:p.Arg668Cys						p.R668C	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	16	2094	-			668					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2002C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638739	0.67130	.	.	ENSG00000125730	ENST00000245907	T	0.52983	0.64	4.98	3.91	0.45181	.	0.300945	0.29212	N	0.012813	T	0.73377	0.3579	M	0.93375	3.41	0.25057	N	0.991091	D	0.89917	1.0	D	0.74348	0.983	T	0.68307	-0.5443	10	0.87932	D	0	.	10.5395	0.45024	0.0:0.0:0.8067:0.1933	.	668	P01024	CO3_HUMAN	C	668	ENSP00000245907:R668C	ENSP00000245907:R668C	R	-	1	0	C3	6658522	0.679000	0.27596	0.962000	0.40283	0.188000	0.23474	1.240000	0.32731	1.043000	0.40175	0.609000	0.83330	CGC		0.652	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	114	0	0	0	0.001984	0	7	114				
LOXL1	4016	broad.mit.edu	37	15	74219535	74219535	+	Silent	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:74219535G>C	ENST00000261921.7	+	1	737	c.411G>C	c.(409-411)acG>acC	p.T137T	LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000568229.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	137					extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)	p.T137T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGGACAGCACGGGCATGGCCC	0.751																																						ENST00000261921.7																			1	Substitution - coding silent(1)	p.T137T(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(409-411)acG>acC		lysyl oxidase-like 1							10.0	13.0	12.0					15																	74219535		2090	4089	6179	SO:0001819	synonymous_variant	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74219535G>C	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.411G>C	15.37:g.74219535G>C						LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA	p.T137T	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			1	737	+			137					Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	c.411G>C	CCDS10253.1																																																																																				0.751	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		3	56	0	0	0	0.004672	0	3	56				
ADAMTS12	81792	broad.mit.edu	37	5	33535013	33535013	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr5:33535013G>T	ENST00000504830.1	-	23	4866	c.4531C>A	c.(4531-4533)Caa>Aaa	p.Q1511K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1426K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1511	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATAGACATTGGTCTTGGTCT	0.493										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4531-4533)Caa>Aaa		ADAM metallopeptidase with thrombospondin type 1 motif, 12							147.0	139.0	141.0					5																	33535013		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535013G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4531C>A	5.37:g.33535013G>T	ENSP00000422554:p.Gln1511Lys	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1426K	p.Q1511K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			23	4866	-			1511			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4531C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.182159	0.01633	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60299	0.2;0.2	3.8	1.94	0.25998	.	0.665592	0.15931	N	0.237660	T	0.41971	0.1182	L	0.41824	1.3	0.09310	N	1	B;B	0.20164	0.034;0.042	B;B	0.22753	0.024;0.041	T	0.21724	-1.0237	10	0.26408	T	0.33	.	4.3947	0.11356	0.1164:0.0:0.6616:0.222	.	1426;1511	P58397-3;P58397	.;ATS12_HUMAN	K	1511;1426	ENSP00000422554:Q1511K;ENSP00000344847:Q1426K	ENSP00000344847:Q1426K	Q	-	1	0	ADAMTS12	33570770	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-0.235000	0.09016	0.538000	0.28769	0.563000	0.77884	CAA		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		37	65	1	0	2.05212e-20	0.005524	2.88086e-20	37	65				
SYT12	91683	broad.mit.edu	37	11	66812168	66812168	+	Silent	SNP	C	C	T	rs371812825		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:66812168C>T	ENST00000393946.2	+	9	2104	c.942C>T	c.(940-942)aaC>aaT	p.N314N	SYT12_ENST00000525457.1_Silent_p.N314N|SYT12_ENST00000527043.1_Silent_p.N314N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	314	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCTGGACCAACGACAAGACCA	0.657																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(940-942)aaC>aaT		synaptotagmin XII							102.0	84.0	90.0					11																	66812168		2200	4295	6495	SO:0001819	synonymous_variant	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66812168C>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.942C>T	11.37:g.66812168C>T						SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N	p.N314N			Q8IV01	SYT12_HUMAN			9	2104	+			314			C2 2.			Silent	SNP	ENST00000393946.2	37	c.942C>T	CCDS8154.1																																																																																				0.657	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		26	67	0	0	0	0.004656	0	26	67				
ARHGAP21	57584	broad.mit.edu	37	10	24874123	24874123	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr10:24874123C>T	ENST00000396432.2	-	26	5581	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1698	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTATCACATTCGATGAGTTTA	0.408																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(5095-5097)Gaa>Aaa		Rho GTPase activating protein 21							24.0	25.0	25.0					10																	24874123		2173	4225	6398	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874123C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5095G>A	10.37:g.24874123C>T	ENSP00000379709:p.Glu1699Lys						p.E1699K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	5581	-			1698			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5095G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394378	0.62066	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.12361	2.69	5.07	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.23013	-1.0200	10	0.66056	D	0.02	.	14.8807	0.70531	0.144:0.856:0.0:0.0	.	1698	Q5T5U3	RHG21_HUMAN	K	1699;1148	ENSP00000379709:E1699K	ENSP00000379709:E1699K	E	-	1	0	ARHGAP21	24914129	1.000000	0.71417	0.417000	0.26559	0.468000	0.32798	5.706000	0.68362	2.332000	0.79248	0.591000	0.81541	GAA		0.408	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		5	84	0	0	0	0.000602	0	5	84				
CTTNBP2	83992	broad.mit.edu	37	7	117400554	117400554	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:117400554G>T	ENST00000160373.3	-	10	3198	c.3107C>A	c.(3106-3108)aCt>aAt	p.T1036N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTATTGCAAGTCACGTCTTC	0.453																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3106-3108)aCt>aAt		cortactin binding protein 2							170.0	150.0	157.0					7																	117400554		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400554G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3107C>A	7.37:g.117400554G>T	ENSP00000160373:p.Thr1036Asn						p.T1036N	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	3198	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1036					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3107C>A	CCDS5774.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	8.897|8.897|8.897	0.955377|0.955377|0.955377	0.18507|0.18507|0.18507	.|.|.	.|.|.	ENSG00000077063|ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000435233;ENST00000416239|ENST00000160373	.|.|T	.|.|0.66815	.|.|-0.23	5.72|5.72|5.72	3.88|3.88|3.88	0.44766|0.44766|0.44766	.|.|.	.|.|0.408889	.|.|0.27151	.|.|N	.|.|0.020687	T|T|T	0.65238|0.65238|0.65238	0.2672|0.2672|0.2672	M|M|M	0.79123|0.79123|0.79123	2.44|2.44|2.44	0.09310|0.09310|0.09310	N|N|N	0.999998|0.999998|0.999998	.|.|P	.|.|0.43938	.|.|0.822	.|.|B	.|.|0.34824	.|.|0.19	T|T|T	0.62756|0.62756|0.62756	-0.6787|-0.6787|-0.6787	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-1.2873|-1.2873|-1.2873	15.3094|15.3094|15.3094	0.74019|0.74019|0.74019	0.0:0.0:0.7438:0.2562|0.0:0.0:0.7438:0.2562|0.0:0.0:0.7438:0.2562	.|.|.	.|.|1036	.|.|Q8WZ74	.|.|CTTB2_HUMAN	E|I|N	523|50;32|1036	.|.|ENSP00000160373:T1036N	.|.|ENSP00000160373:T1036N	D|L|T	-|-|-	3|1|2	2|0|0	CTTNBP2|CTTNBP2|CTTNBP2	117187790|117187790|117187790	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.011000|0.011000|0.011000	0.14972|0.14972|0.14972	0.019000|0.019000|0.019000	0.09904|0.09904|0.09904	4.653000|4.653000|4.653000	0.61462|0.61462|0.61462	0.852000|0.852000|0.852000	0.35287|0.35287|0.35287	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAC|CTT|ACT		0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		51	78	1	0	4.10826e-27	0.003610	5.88045e-27	51	78				
CDK5RAP3	80279	broad.mit.edu	37	17	46048774	46048774	+	Splice_Site	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:46048774G>T	ENST00000338399.4	+	2	158		c.e2+1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AAGCTGCTCGGTAGGAGGGGG	0.672																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.e2+1		CDK5 regulatory subunit associated protein 3							19.0	20.0	20.0					17																	46048774		2044	4168	6212	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46048774G>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.52+1G>T	17.37:g.46048774G>T						CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA		NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			2	236	+								B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37		CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417635	0.83449	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2516	0.60055	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43403773	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.463000	0.90377	2.213000	0.71641	0.561000	0.74099	.		0.672	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Intron	8	17	1	0	1.12685e-05	0.004482	1.44316e-05	8	17				
FOCAD	54914	broad.mit.edu	37	9	20978420	20978420	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr9:20978420G>C	ENST00000380249.1	+	39	4708	c.4344G>C	c.(4342-4344)ttG>ttC	p.L1448F	FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F|FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1448						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TATTGGGCTTGTGGGTGACAC	0.458																																						ENST00000380249.1																			0											c.(4342-4344)ttG>ttC		focadhesin							84.0	76.0	78.0					9																	20978420		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20978420G>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4344G>C	9.37:g.20978420G>C	ENSP00000369599:p.Leu1448Phe					FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F|FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F	p.L1448F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			39	4708	+			1448					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4344G>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704231	0.48412	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.24723	1.84;1.84	6.06	2.26	0.28386	.	0.718800	0.14443	N	0.319248	T	0.24890	0.0604	L	0.47716	1.5	0.35516	D	0.801048	P	0.42518	0.782	B	0.43445	0.42	T	0.18840	-1.0324	10	0.29301	T	0.29	-8.7802	9.7398	0.40411	0.2649:0.0:0.7351:0.0	.	1448	Q5VW36	K1797_HUMAN	F	1448	ENSP00000369599:L1448F;ENSP00000344307:L1448F	ENSP00000344307:L1448F	L	+	3	2	KIAA1797	20968420	1.000000	0.71417	0.985000	0.45067	0.817000	0.46193	1.232000	0.32636	0.168000	0.19655	-0.768000	0.03414	TTG		0.458	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		9	26	0	0	0	0.001855	0	9	26				
CLYBL	171425	broad.mit.edu	37	13	100518573	100518573	+	Silent	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr13:100518573C>A	ENST00000376360.1	+	6	741	c.714C>A	c.(712-714)ctC>ctA	p.L238L	CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000376355.3_Silent_p.L204L|CLYBL_ENST00000444838.2_Silent_p.L204L			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	238						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTTGGTCTCCAAGCCATAG	0.478																																						ENST00000376355.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(610-612)ctC>ctA		citrate lyase beta like							100.0	100.0	100.0					13																	100518573		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518573C>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.714C>A	13.37:g.100518573C>A						CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376360.1_Silent_p.L238L|CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L	p.L204L	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN			5	643	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		238					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.612C>A	CCDS32002.1																																																																																				0.478	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			28	62	1	0	2.61193e-14	0.009535	3.59757e-14	28	62				
SIPA1L3	23094	broad.mit.edu	37	19	38643547	38643547	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:38643547G>A	ENST00000222345.6	+	13	4110	c.3601G>A	c.(3601-3603)Ggc>Agc	p.G1201S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1201					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGTCCAGCGGCGACTCCTC	0.662																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3601-3603)Ggc>Agc		signal-induced proliferation-associated 1 like 3							108.0	101.0	103.0					19																	38643547		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643547G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3601G>A	19.37:g.38643547G>A	ENSP00000222345:p.Gly1201Ser						p.G1201S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4110	+			1201					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3601G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536527	0.65085	.	.	ENSG00000105738	ENST00000222345	T	0.42513	0.97	5.2	5.2	0.72013	.	0.534308	0.18211	N	0.148173	T	0.38612	0.1047	L	0.46157	1.445	0.51767	D	0.999936	B	0.22541	0.071	B	0.16289	0.015	T	0.14227	-1.0480	10	0.38643	T	0.18	-35.8173	15.6558	0.77133	0.0:0.0:1.0:0.0	.	1201	O60292	SI1L3_HUMAN	S	1201	ENSP00000222345:G1201S	ENSP00000222345:G1201S	G	+	1	0	SIPA1L3	43335387	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.505000	0.66981	2.430000	0.82344	0.467000	0.42956	GGC		0.662	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	119	0	0	0	0.003080	0	6	119				
RHOC	389	broad.mit.edu	37	1	113245708	113245708	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:113245708C>T	ENST00000285735.2	-	4	1399	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E			P08134	RHOC_HUMAN	ras homolog family member C	64					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATAGTCTTCCTGCCCTGCT	0.612																																						ENST00000285735.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(190-192)Gaa>Aaa		ras homolog family member C							77.0	71.0	73.0					1																	113245708		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113245708C>T	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.190G>A	1.37:g.113245708C>T	ENSP00000285735:p.Glu64Lys					RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E	p.E64K			P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1399	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	64					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.190G>A	CCDS854.1	.	.	.	.	.	.	.	.	.	.	C	37	5.993906	0.97184	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369636;ENST00000369632;ENST00000484054;ENST00000425265;ENST00000534717;ENST00000436685;ENST00000414971	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.49916	D	0.000140	D	0.92208	0.7529	H	0.95780	3.72	0.80722	D	1	D	0.52996	0.957	P	0.57502	0.822	D	0.94142	0.7398	10	0.87932	D	0	-8.4297	18.7749	0.91907	0.0:1.0:0.0:0.0	.	64	P08134	RHOC_HUMAN	K	64;64;64;64;64;64;64;64;101;64;64;64;64	ENSP00000345236:E64K;ENSP00000358647:E64K;ENSP00000358656:E64K;ENSP00000285735:E64K;ENSP00000358652:E64K;ENSP00000358651:E64K;ENSP00000358650:E64K;ENSP00000358646:E64K;ENSP00000434877:E101K;ENSP00000390823:E64K;ENSP00000436240:E64K;ENSP00000399424:E64K;ENSP00000395791:E64K	ENSP00000285735:E64K	E	-	1	0	RHOC	113047231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.042000	0.70996	2.537000	0.85549	0.561000	0.74099	GAA		0.612	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		9	46	0	0	0	0.004482	0	9	46				
TCF7L1	83439	broad.mit.edu	37	2	85533435	85533435	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:85533435G>A	ENST00000282111.3	+	9	1371	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	366					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CAAGGTGGTGGCTGAGTGCAC	0.542																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1096-1098)Gct>Act		transcription factor 7-like 1 (T-cell specific, HMG-box)							135.0	120.0	125.0					2																	85533435		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85533435G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1096G>A	2.37:g.85533435G>A	ENSP00000282111:p.Ala366Thr						p.A366T	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			9	1371	+			366					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1096G>A	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723047	0.89298	.	.	ENSG00000152284	ENST00000282111	D	0.98296	-4.85	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.76170	2.325	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	D	0.99851	1.1072	10	0.87932	D	0	.	16.1638	0.81739	0.0:0.0:1.0:0.0	.	366	Q9HCS4	TF7L1_HUMAN	T	366	ENSP00000282111:A366T	ENSP00000282111:A366T	A	+	1	0	TCF7L1	85386946	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.852000	0.99516	2.410000	0.81850	0.591000	0.81541	GCT		0.542	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	72	0	0	0	0.000978	0	11	72				
DLC1	10395	broad.mit.edu	37	8	13162748	13162748	+	Intron	SNP	C	C	T	rs202220331		TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:13162748C>T	ENST00000276297.4	-	5	1758				DLC1_ENST00000316609.5_Intron|DLC1_ENST00000511869.1_Missense_Mutation_p.A460T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATAGATTGGCGAGAAAACAG	0.274																																						ENST00000511869.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1378-1380)Gcc>Acc		deleted in liver cancer 1							67.0	71.0	69.0					8																	13162748		2202	4298	6500	SO:0001627	intron_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13162748C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1348+29G>A	8.37:g.13162748C>T						DLC1_ENST00000316609.5_Intron|DLC1_ENST00000276297.4_Intron	p.A460T	NM_024767.3	NP_079043.3	Q96QB1	RHG07_HUMAN			5	1788	-			0			SAM.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1378G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	4.121	0.020732	0.08006	.	.	ENSG00000164741	ENST00000511869	T	0.12774	2.65	3.67	-0.373	0.12516	.	.	.	.	.	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	9	0.87932	D	0	.	2.9198	0.05765	0.2776:0.4734:0.0945:0.1545	.	460	E9PF76	.	T	460	ENSP00000425878:A460T	ENSP00000425878:A460T	A	-	1	0	DLC1	13207119	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.168000	0.16622	-0.289000	0.09038	-2.766000	0.00121	GCC		0.274	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		18	17	0	0	0	0.007413	0	18	17				
FRYL	285527	broad.mit.edu	37	4	48611011	48611011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:48611011G>A	ENST00000503238.1	-	6	564	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	FRYL_ENST00000507711.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.Q189*|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TACTTTGATTGGGCAAGAACC	0.323																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(565-567)Caa>Taa		FRY-like							108.0	101.0	103.0					4																	48611011		1830	4085	5915	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48611011G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.565C>T	4.37:g.48611011G>A	ENSP00000426064:p.Gln189*					FRYL_ENST00000503238.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Nonsense_Mutation_p.Q189*	p.Q189*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			9	1169	-			189					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.565C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	41	9.146372	0.99080	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.79	5.79	0.91817	.	0.085856	0.47852	U	0.000201	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000351113:Q189X	Q	-	1	0	FRYL	48305768	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.813000	0.99286	2.742000	0.94016	0.591000	0.81541	CAA		0.323	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			15	61	0	0	0	0.004007	0	15	61				
LUZP4	51213	broad.mit.edu	37	X	114541233	114541233	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:114541233C>T	ENST00000371920.3	+	4	813	c.806C>T	c.(805-807)aCt>aTt	p.T269I	LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	269						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTCATAGCCACTCAGAGAGAT	0.468																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(805-807)aCt>aTt		leucine zipper protein 4							112.0	99.0	103.0					X																	114541233		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541233C>T	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.806C>T	X.37:g.114541233C>T	ENSP00000360988:p.Thr269Ile					LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	p.T269I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	813	+			269					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.806C>T	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.029920	0.35797	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78003	-1.14;-1.14	3.69	-7.38	0.01407	.	2.510280	0.02048	N	0.049818	T	0.59514	0.2199	L	0.27053	0.805	0.09310	N	1	B;B	0.20550	0.046;0.041	B;B	0.17722	0.014;0.019	T	0.46359	-0.9197	10	0.72032	D	0.01	.	0.1785	0.00121	0.3185:0.2167:0.2251:0.2397	.	187;269	B3KSD6;Q9P127	.;LUZP4_HUMAN	I	187;269	ENSP00000411212:T187I;ENSP00000360988:T269I	ENSP00000360988:T269I	T	+	2	0	LUZP4	114447489	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-3.678000	0.00395	-2.832000	0.00339	0.284000	0.19432	ACT		0.468	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		49	21	0	0	0	0.003610	0	49	21				
B4GALT1	2683	broad.mit.edu	37	9	33135276	33135276	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr9:33135276G>A	ENST00000379731.4	-	2	745	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	B4GALT1_ENST00000535206.1_Missense_Mutation_p.R187W	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	187	UDP-alpha-D-galactose binding.				acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTCCTGCCGGTTGCGGAAT	0.562																																						ENST00000379731.4																			0				endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14						c.(559-561)Cgg>Tgg		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	N-Acetyl-D-glucosamine(DB00141)						107.0	96.0	100.0					9																	33135276		2203	4300	6503	SO:0001583	missense	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33135276G>A	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.559C>T	9.37:g.33135276G>A	ENSP00000369055:p.Arg187Trp					B4GALT1_ENST00000535206.1_Missense_Mutation_p.R187W	p.R187W	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	2	745	-			187					B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	ENST00000379731.4	37	c.559C>T	CCDS6535.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249745	0.95305	.	.	ENSG00000086062	ENST00000535206;ENST00000379731;ENST00000541701	T;T	0.38887	1.11;1.11	5.18	5.18	0.71444	.	0.056828	0.64402	D	0.000001	T	0.77890	0.4198	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85743	0.1338	10	0.87932	D	0	-19.9582	16.5567	0.84487	0.0:0.0:1.0:0.0	.	187	P15291	B4GT1_HUMAN	W	187;187;144	ENSP00000440341:R187W;ENSP00000369055:R187W	ENSP00000369055:R187W	R	-	1	2	B4GALT1	33125276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.384000	0.73177	2.848000	0.98002	0.655000	0.94253	CGG		0.562	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		19	63	0	0	0	0.007413	0	19	63				
LHFPL3	375612	broad.mit.edu	37	7	104377297	104377297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:104377297delA	ENST00000401970.2	+	2	701	c.579delA	c.(577-579)gcafs	p.A193fs	LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000535008.1_Frame_Shift_Del_p.A207fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	207						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						CATTTCTAGCATTTGTGCTTG	0.448																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(619-621)gcfs		lipoma HMGIC fusion partner-like 3							72.0	71.0	71.0					7																	104377297		1939	4159	6098	SO:0001589	frameshift_variant	375612					integral to membrane		g.chr7:104377297delA	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.579delA	7.37:g.104377297delA	ENSP00000385374:p.Ala193fs					LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs	p.A207fs			Q86UP9	LHPL3_HUMAN			4	745	+			193					A1L383|A4D0Q5	Frame_Shift_Del	DEL	ENST00000401970.2	37	c.621delA																																																																																					0.448	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		9	12						9	12	---	---	---	---
