#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
ZNF618	114991	broad.mit.edu	37	9	116812025	116812025	+	Missense_Mutation	SNP	C	C	T	rs377161371		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:116812025C>T	ENST00000374126.5	+	15	2542	c.2443C>T	c.(2443-2445)Cgg>Tgg	p.R815W	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.R722W			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	815					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCAGAAGCTGCGGCCTGTGCC	0.627																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2164-2166)Cgg>Tgg		zinc finger protein 618		C	TRP/ARG	0,4092		0,0,2046	42.0	50.0	47.0		2164	5.6	1.0	9		47	1,8367		0,1,4183	no	missense	ZNF618	NM_133374.2	101	0,1,6229	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	722/862	116812025	1,12459	2046	4184	6230	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116812025C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2443C>T	9.37:g.116812025C>T	ENSP00000363241:p.Arg815Trp					ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.R815W	p.R722W	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2263	+			815					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2164C>T		.	.	.	.	.	.	.	.	.	.	C	17.40	3.379916	0.61845	0.0	1.2E-4	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22743	1.94;1.94	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.055792	0.64402	D	0.000001	T	0.46483	0.1395	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.988;0.965;0.989	T	0.39901	-0.9591	9	0.72032	D	0.01	-25.2574	13.9402	0.64050	0.1517:0.8483:0.0:0.0	.	782;815;722	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	W	815;722	ENSP00000363241:R815W;ENSP00000288466:R722W	ENSP00000288466:R722W	R	+	1	2	ZNF618	115851846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.801000	0.38843	2.815000	0.96918	0.561000	0.74099	CGG		0.627	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		4	102	0	0	0	0.014758	0	4	102				
SCD5	79966	broad.mit.edu	37	4	83557863	83557863	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr4:83557863T>C	ENST00000319540.4	-	4	1002	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	228					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGATGGTATAGCGGAGAAT	0.562																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(682-684)tAt>tGt		stearoyl-CoA desaturase 5							124.0	109.0	114.0					4																	83557863		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83557863T>C	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.683A>G	4.37:g.83557863T>C	ENSP00000316329:p.Tyr228Cys						p.Y228C	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			4	1002	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	228					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.683A>G	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981345	0.53827	.	.	ENSG00000145284	ENST00000319540	T	0.17370	2.28	5.08	5.08	0.68730	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71580	-0.4550	10	0.87932	D	0	-6.3397	15.3161	0.74078	0.0:0.0:0.0:1.0	.	228	Q86SK9	SCD5_HUMAN	C	228	ENSP00000316329:Y228C	ENSP00000316329:Y228C	Y	-	2	0	SCD5	83776887	1.000000	0.71417	0.924000	0.36721	0.010000	0.07245	7.335000	0.79234	2.254000	0.74563	0.533000	0.62120	TAT		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		7	66	0	0	0	0.001984	0	7	66				
ANKRD46	157567	broad.mit.edu	37	8	101534835	101534835	+	Splice_Site	SNP	T	T	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:101534835T>A	ENST00000520552.1	-	5	796	c.635A>T	c.(634-636)tAt>tTt	p.Y212F	ANKRD46_ENST00000520311.1_Missense_Mutation_p.Y212F|ANKRD46_ENST00000519316.1_Missense_Mutation_p.Y159F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.Y212F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.Y212F	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	212						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CCCACTCACATAATAAGCAAT	0.488																																						ENST00000520311.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(634-636)tAt>tTt		ankyrin repeat domain 46							120.0	98.0	106.0					8																	101534835		2203	4300	6503	SO:0001630	splice_region_variant	157567					integral to membrane		g.chr8:101534835T>A	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.636+1A>T	8.37:g.101534835T>A						ANKRD46_ENST00000519316.1_Missense_Mutation_p.Y159F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.Y212F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.Y212F|ANKRD46_ENST00000520552.1_Splice_Site_p.Y212_splice	p.Y212F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		5	1438	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		212					Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.635A>T	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689232	0.88735	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316	T;T;T;T;T	0.52754	0.65;0.72;0.72;0.72;0.87	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.52842	0.927;0.956	D;D	0.67725	0.953;0.931	T	0.60865	-0.7178	10	0.59425	D	0.04	-27.0947	16.5885	0.84745	0.0:0.0:0.0:1.0	.	212;212	Q86W74-2;Q86W74	.;ANR46_HUMAN	F	212;212;212;212;159	ENSP00000429015:Y212F;ENSP00000335287:Y212F;ENSP00000430056:Y212F;ENSP00000428388:Y212F;ENSP00000430827:Y159F	ENSP00000335287:Y212F	Y	-	2	0	ANKRD46	101604011	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TAT		0.488	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401	Missense_Mutation	11	71	0	0	0	0.010729	0	11	71				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	30	0	0	0	0.004672	0	3	30				
HERC1	8925	broad.mit.edu	37	15	63901366	63901366	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:63901366T>C	ENST00000443617.2	-	78	14587	c.14500A>G	c.(14500-14502)Atc>Gtc	p.I4834V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4834	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGTTGTTGATGGCATAGCGC	0.602																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14500-14502)Atc>Gtc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							67.0	72.0	70.0					15																	63901366		2130	4227	6357	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63901366T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14500A>G	15.37:g.63901366T>C	ENSP00000390158:p.Ile4834Val						p.I4834V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			78	14587	-			4834			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.14500A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.819746	0.90873	.	.	ENSG00000103657	ENST00000443617	D	0.86627	-2.15	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	L	0.46670	1.46	0.80722	D	1	P	0.47604	0.898	D	0.68192	0.956	D	0.92111	0.5696	10	0.87932	D	0	.	15.4962	0.75653	0.0:0.0:0.0:1.0	.	4834	Q15751	HERC1_HUMAN	V	4834	ENSP00000390158:I4834V	ENSP00000390158:I4834V	I	-	1	0	HERC1	61688419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.058000	0.61347	0.533000	0.62120	ATC		0.602	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	30	0	0	0	0.006214	0	7	30				
LAMA1	284217	broad.mit.edu	37	18	7036073	7036073	+	Silent	SNP	G	G	A	rs138401018		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr18:7036073G>A	ENST00000389658.3	-	13	1845	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	584	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCAGGAATCCGCCAAACGCAG	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21455	0.0		0.0	False		,,,				2504	0.0					ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1750-1752)ggC>ggT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G		6,4400	11.4+/-27.6	0,6,2197	138.0	104.0	115.0		1752	0.4	0.9	18	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	LAMA1	NM_005559.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		584/3076	7036073	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7036073G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1752C>T	18.37:g.7036073G>A							p.G584G	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			13	1845	-		Colorectal(10;0.172)	584			Laminin IV type A 1.			Silent	SNP	ENST00000389658.3	37	c.1752C>T	CCDS32787.1																																																																																				0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	53	0	0	0	0.001168	0	4	53				
ANKS4B	257629	broad.mit.edu	37	16	21261086	21261086	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:21261086A>G	ENST00000311620.5	+	2	272	c.199A>G	c.(199-201)Act>Gct	p.T67A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	67					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGGGGAAACACTCCTCTACA	0.463																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(199-201)Act>Gct		ankyrin repeat and sterile alpha motif domain containing 4B							83.0	80.0	81.0					16																	21261086		1944	4158	6102	SO:0001583	missense	257629							g.chr16:21261086A>G	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.199A>G	16.37:g.21261086A>G	ENSP00000308772:p.Thr67Ala						p.T67A	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	272	+			67						Missense_Mutation	SNP	ENST00000311620.5	37	c.199A>G	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346736	0.82022	.	.	ENSG00000175311	ENST00000311620	T	0.79033	-1.23	5.71	5.71	0.89125	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91372	0.5120	10	0.66056	D	0.02	-16.337	15.1435	0.72630	1.0:0.0:0.0:0.0	.	67	Q8N8V4	ANS4B_HUMAN	A	67	ENSP00000308772:T67A	ENSP00000308772:T67A	T	+	1	0	ANKS4B	21168587	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.307000	0.96226	2.167000	0.68274	0.482000	0.46254	ACT		0.463	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		8	85	0	0	0	0.004482	0	8	85				
TCOF1	6949	broad.mit.edu	37	5	149755650	149755650	+	Silent	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:149755650A>G	ENST00000504761.2	+	13	1899	c.1899A>G	c.(1897-1899)aaA>aaG	p.K633K	TCOF1_ENST00000513346.1_Silent_p.K633K|TCOF1_ENST00000377797.3_Silent_p.K633K|TCOF1_ENST00000451292.1_Silent_p.K633K|TCOF1_ENST00000439160.2_Silent_p.K633K|TCOF1_ENST00000323668.7_Silent_p.K556K|TCOF1_ENST00000394269.3_Silent_p.K633K|TCOF1_ENST00000445265.2_Silent_p.K556K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	633					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCAAAACCAGCTCTGA	0.572																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1897-1899)aaA>aaG		Treacher Collins-Franceschetti syndrome 1							98.0	109.0	105.0					5																	149755650		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755650A>G		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1899A>G	5.37:g.149755650A>G						TCOF1_ENST00000445265.2_Silent_p.K556K|TCOF1_ENST00000377797.3_Silent_p.K633K|TCOF1_ENST00000439160.2_Silent_p.K633K|TCOF1_ENST00000504761.2_Silent_p.K633K|TCOF1_ENST00000323668.7_Silent_p.K556K|TCOF1_ENST00000513346.1_Silent_p.K633K|TCOF1_ENST00000394269.3_Silent_p.K633K	p.K633K			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2007	+		all_hematologic(541;0.224)	633					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1899A>G	CCDS54936.1																																																																																				0.572	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		16	223	0	0	0	0.004007	0	16	223				
BNIP1	662	broad.mit.edu	37	5	172578699	172578699	+	Intron	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:172578699T>C	ENST00000351486.5	+	3	208				BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Splice_Site|BNIP1_ENST00000231668.9_Splice_Site	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTTCAGTGTGAGTATTTGT	0.368																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.e3+2		BCL2/adenovirus E1B 19kDa interacting protein 1							129.0	116.0	121.0					5																	172578699		2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578699T>C	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2626T>C	5.37:g.172578699T>C						BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Splice_Site		NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	410	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)						D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Splice_Site	SNP	ENST00000351486.5	37		CCDS4384.1	.	.	.	.	.	.	.	.	.	.	T	4.589	0.109408	0.08780	.	.	ENSG00000113734	ENST00000231668;ENST00000352523	.	.	.	2.57	-0.729	0.11158	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8446	0.03157	0.2569:0.2627:0.0:0.4805	.	.	.	.	.	-1	.	.	.	+	.	.	BNIP1	172511305	0.006000	0.16342	0.000000	0.03702	0.052000	0.14988	0.142000	0.16096	-0.144000	0.11314	0.460000	0.39030	.		0.368	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		3	111	0	0	0	0.014758	0	3	111				
GTF2E1	2960	broad.mit.edu	37	3	120489647	120489647	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:120489647G>A	ENST00000283875.5	+	3	614	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAGATGCACGCACACTTTTG	0.423																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(520-522)cGc>cAc		general transcription factor IIE, polypeptide 1, alpha 56kDa							220.0	212.0	215.0					3																	120489647		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120489647G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.521G>A	3.37:g.120489647G>A	ENSP00000283875:p.Arg174His						p.R174H	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	3	614	+			174					Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.521G>A	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460451	0.96240	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	T	0.57107	0.42	5.91	5.91	0.95273	Zinc finger, TFIIB-type (1);	0.047836	0.85682	D	0.000000	T	0.75583	0.3869	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73655	-0.3914	10	0.37606	T	0.19	-28.9424	19.2845	0.94065	0.0:0.0:1.0:0.0	.	174	P29083	T2EA_HUMAN	H	7;174	ENSP00000283875:R174H	ENSP00000283875:R174H	R	+	2	0	GTF2E1	121972337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.904000	0.87408	2.813000	0.96785	0.655000	0.94253	CGC		0.423	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		50	330	0	0	0	0.014410	0	50	330				
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:42799059C>T	ENST00000575354.2	+	20	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000572681.2_Missense_Mutation_p.R2421C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7261-7263)Cgc>Tgc		capicua transcriptional repressor							47.0	47.0	47.0					19																	42799059		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799059C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4543C>T	19.37:g.42799059C>T	ENSP00000458663:p.Arg1515Cys					CIC_ENST00000575354.2_Missense_Mutation_p.R1515C|CIC_ENST00000160740.3_Missense_Mutation_p.R1513C	p.R2421C			Q96RK0	CIC_HUMAN			21	7329	+		Prostate(69;0.00682)	1515					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7261C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159893	0.57368	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	2.33	0.28932	.	.	.	.	.	T	0.52901	0.1763	L	0.29908	0.895	0.51233	D	0.999917	D	0.89917	1.0	D	0.76575	0.988	T	0.55811	-0.8082	8	0.87932	D	0	-10.1007	2.833	0.05506	0.1907:0.5252:0.184:0.1001	.	1515	Q96RK0	CIC_HUMAN	C	1515	.	ENSP00000160740:R1515C	R	+	1	0	CIC	47490899	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	2.109000	0.41863	1.232000	0.43678	0.491000	0.48974	CGC		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	60	0	0	0	0.004482	0	8	60				
ZMYM2	7750	broad.mit.edu	37	13	20638648	20638648	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr13:20638648A>G	ENST00000382874.2	+	20	3285	c.3095A>G	c.(3094-3096)gAa>gGa	p.E1032G	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1032G|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E1032G	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1032					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTTGGCGAAGAATATGAGGAA	0.343																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(3094-3096)gAa>gGa		zinc finger, MYM-type 2							123.0	111.0	114.0					13																	20638648		1818	4083	5901	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20638648A>G	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3095A>G	13.37:g.20638648A>G	ENSP00000372327:p.Glu1032Gly					ZMYM2_ENST00000382870.2_Missense_Mutation_p.E412G|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1032G|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E1032G	p.E1032G	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	19	3346	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1032					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.3095A>G	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528968	0.85706	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.19669	2.13	5.52	5.52	0.82312	.	0.303386	0.38436	N	0.001687	T	0.31888	0.0811	L	0.50333	1.59	0.80722	D	1	P	0.51791	0.948	P	0.51324	0.666	T	0.01635	-1.1307	10	0.45353	T	0.12	-26.3887	15.938	0.79729	1.0:0.0:0.0:0.0	.	1032	Q9UBW7	ZMYM2_HUMAN	G	1032;1032;1030;1030;410	ENSP00000372322:E1032G	ENSP00000372322:E1032G	E	+	2	0	ZMYM2	19536648	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.726000	0.74758	2.222000	0.72286	0.533000	0.62120	GAA		0.343	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		3	8	0	0	0	0.009096	0	3	8				
LINC01239	441389	broad.mit.edu	37	9	22823377	22823377	+	lincRNA	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:22823377A>G	ENST00000436786.1	+	0	1512					NR_038977.1																						tcccacattaatgacatcaaa	0.527																																						ENST00000436786.1																			0																																																			0							g.chr9:22823377A>G																													9.37:g.22823377A>G								NR_038977.1						0	1512	+									RNA	SNP	ENST00000436786.1	37																																																																																						0.527	RP11-399D6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051938.1			3	58	0	0	0	0.004672	0	3	58				
NOTCH1	4851	broad.mit.edu	37	9	139412675	139412675	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:139412675T>C	ENST00000277541.6	-	7	1244	c.1169A>G	c.(1168-1170)aAc>aGc	p.N390S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	390	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N390S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATTGACAGGGTTGGTGTCGCA	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.N390S(2)	lung(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1168-1170)aAc>aGc		notch 1							75.0	82.0	80.0					9																	139412675		2164	4271	6435	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412675T>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1169A>G	9.37:g.139412675T>C	ENSP00000277541:p.Asn390Ser	HNSCC(8;0.001)					p.N390S	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1244	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	390			EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1169A>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070093	0.36566	.	.	ENSG00000148400	ENST00000277541	D	0.82984	-1.67	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.047738	0.85682	D	0.000000	T	0.67031	0.2850	N	0.12422	0.21	0.54753	D	0.999983	B	0.12013	0.005	B	0.19148	0.024	T	0.61618	-0.7026	10	0.08837	T	0.75	.	13.1976	0.59746	0.0:0.0:0.0:1.0	.	390	P46531	NOTC1_HUMAN	S	390	ENSP00000277541:N390S	ENSP00000277541:N390S	N	-	2	0	NOTCH1	138532496	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.433000	0.66520	1.803000	0.52742	0.421000	0.28195	AAC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	18	0	0	0	0.014758	0	4	18				
GID4	79018	broad.mit.edu	37	17	17948505	17948505	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:17948505T>G	ENST00000268719.4	+	2	656	c.483T>G	c.(481-483)atT>atG	p.I161M	GID4_ENST00000376345.3_Missense_Mutation_p.I161M	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	161																	ACTTGAAGATTAAAGGCCTTA	0.483																																						ENST00000268719.4																			0											c.(481-483)atT>atG		GID complex subunit 4							149.0	127.0	134.0					17																	17948505		2203	4300	6503	SO:0001583	missense	79018							g.chr17:17948505T>G	AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.483T>G	17.37:g.17948505T>G	ENSP00000268719:p.Ile161Met					GID4_ENST00000376345.3_Missense_Mutation_p.I161M	p.I161M	NM_024052.4	NP_076957.3					2	656	+								Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	37	c.483T>G	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464657	0.63513	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	5.5	0.637	0.17735	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.94142	3.5	0.51012	D	0.999909	D	0.89917	1.0	D	0.97110	1.0	T	0.74093	-0.3776	9	0.87932	D	0	-7.0484	3.6067	0.08045	0.2492:0.2165:0.0:0.5343	.	161	Q8IVV7	CQ039_HUMAN	M	161;78	.	ENSP00000268719:I161M	I	+	3	3	C17orf39	17889230	0.976000	0.34144	0.997000	0.53966	0.998000	0.95712	0.084000	0.14891	-0.108000	0.12066	0.533000	0.62120	ATT		0.483	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052		13	90	0	0	0	0.006122	0	13	90				
MDN1	23195	broad.mit.edu	37	6	90428622	90428622	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr6:90428622A>G	ENST00000369393.3	-	42	6300	c.6185T>C	c.(6184-6186)gTc>gCc	p.V2062A	MDN1_ENST00000428876.1_Missense_Mutation_p.V2062A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2062					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACCAGGATGACCATCCAGCT	0.562																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6184-6186)gTc>gCc		MDN1, midasin homolog (yeast)							90.0	83.0	85.0					6																	90428622		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90428622A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6185T>C	6.37:g.90428622A>G	ENSP00000358400:p.Val2062Ala					MDN1_ENST00000428876.1_Missense_Mutation_p.V2062A	p.V2062A			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	42	6300	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2062					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6185T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.383084	0.42207	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.60920	0.15;0.15	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.221015	0.39083	N	0.001475	T	0.39784	0.1091	L	0.45051	1.395	0.44454	D	0.997381	B	0.24963	0.115	B	0.37989	0.262	T	0.38178	-0.9673	10	0.10902	T	0.67	.	15.8269	0.78718	1.0:0.0:0.0:0.0	.	2062	Q9NU22	MDN1_HUMAN	A	2062	ENSP00000358400:V2062A;ENSP00000413970:V2062A	ENSP00000358400:V2062A	V	-	2	0	MDN1	90485343	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.740000	0.68629	2.127000	0.65507	0.528000	0.53228	GTC		0.562	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	102	0	0	0	0.004672	0	3	102				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	66	0	0	0	0.012213	0	29	66				
COL1A1	1277	broad.mit.edu	37	17	48264128	48264128	+	Silent	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:48264128G>A	ENST00000225964.5	-	48	3805	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1229	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TGTCCACCTCGAGGTCACGGT	0.627			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3685-3687)ctC>ctT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						158.0	150.0	153.0					17																	48264128		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264128G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3687C>T	17.37:g.48264128G>A							p.L1229L	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			48	3805	-			1229			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.3687C>T	CCDS11561.1																																																																																				0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			11	284	0	0	0	0.013537	0	11	284				
CSRNP2	81566	broad.mit.edu	37	12	51470329	51470329	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:51470329C>T	ENST00000228515.1	-	2	313	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	6					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGACCCGAGCCCGTGAATGCA	0.522																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(16-18)Ggc>Agc		cysteine-serine-rich nuclear protein 2							166.0	151.0	157.0					12																	51470329		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51470329C>T	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.16G>A	12.37:g.51470329C>T	ENSP00000228515:p.Gly6Ser						p.G6S	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			2	313	-			6						Missense_Mutation	SNP	ENST00000228515.1	37	c.16G>A	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	5.095	0.203223	0.09704	.	.	ENSG00000110925	ENST00000228515;ENST00000548981;ENST00000552899;ENST00000546935	T	0.38240	1.15	4.93	2.04	0.26737	.	0.361242	0.29273	N	0.012633	T	0.05731	0.0150	N	0.00049	-2.42	0.28802	N	0.89873	B	0.14805	0.011	B	0.12156	0.007	T	0.35375	-0.9791	10	0.10111	T	0.7	-15.1925	7.3299	0.26575	0.0:0.5698:0.0:0.4302	.	6	Q9H175	CSRN2_HUMAN	S	6	ENSP00000228515:G6S	ENSP00000228515:G6S	G	-	1	0	CSRNP2	49756596	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.502000	0.35704	0.605000	0.29947	0.478000	0.44815	GGC		0.522	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			9	153	0	0	0	0.006214	0	9	153				
RHOBTB3	22836	broad.mit.edu	37	5	95119548	95119548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:95119548C>T	ENST00000379982.3	+	10	2012	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Nonsense_Mutation_p.Q133*|GLRX_ENST00000507605.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	502	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CGAGATGTACCAAGTGTCCAG	0.468																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(1504-1506)Caa>Taa		Rho-related BTB domain containing 3							220.0	192.0	201.0					5																	95119548		2203	4300	6503	SO:0001587	stop_gained	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95119548C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1504C>T	5.37:g.95119548C>T	ENSP00000369318:p.Gln502*					GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron|RHOBTB3_ENST00000504179.1_Nonsense_Mutation_p.Q133*	p.Q502*	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	10	2012	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	502			Interaction with Rab9.		A0PJA4|A8K1W9|Q8IW06	Nonsense_Mutation	SNP	ENST00000379982.3	37	c.1504C>T	CCDS4077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.423603|6.423603	0.97555|0.97555	.|.	.|.	ENSG00000164292|ENSG00000164292	ENST00000503737|ENST00000379982;ENST00000504179	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.70684|.	0.3252|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64114|.	-0.6483|.	4|.	.|0.25106	.|T	.|0.35	-19.4751|-19.4751	19.3366|19.3366	0.94322|0.94322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	4|502;133	.|.	.|ENSP00000369318:Q502X	P|Q	+|+	2|1	0|0	RHOBTB3|RHOBTB3	95145304|95145304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.215000|7.215000	0.77966|0.77966	2.668000|2.668000	0.90789|0.90789	0.561000|0.561000	0.74099|0.74099	CCA|CAA		0.468	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		14	197	0	0	0	0.007413	0	14	197				
OR1S2	219958	broad.mit.edu	37	11	57970708	57970708	+	Missense_Mutation	SNP	T	T	C	rs542852724	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:57970708T>C	ENST00000302592.6	-	1	945	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGATGAGCTTTCTCAGGGCA	0.413													T|||	2	0.000399361	0.0	0.0014	5008	,	,		23355	0.0		0.001	False		,,,				2504	0.0					ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(946-948)Aag>Gag		olfactory receptor, family 1, subfamily S, member 2							132.0	135.0	134.0					11																	57970708		2201	4294	6495	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970708T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.946A>G	11.37:g.57970708T>C	ENSP00000305469:p.Lys316Glu						p.K316E	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	945	-		Breast(21;0.0589)	316					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.946A>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.874037	0.51695	.	.	ENSG00000197887	ENST00000302592	T	0.40476	1.03	4.9	4.9	0.64082	.	0.252949	0.27636	N	0.018490	T	0.40040	0.1101	L	0.58428	1.81	0.29337	N	0.866272	P	0.48911	0.917	B	0.39185	0.293	T	0.52019	-0.8631	10	0.66056	D	0.02	.	14.6412	0.68726	0.0:0.0:0.0:1.0	.	316	Q8NGQ3	OR1S2_HUMAN	E	316	ENSP00000305469:K316E	ENSP00000305469:K316E	K	-	1	0	OR1S2	57727284	0.076000	0.21285	0.906000	0.35671	0.978000	0.69477	2.766000	0.47629	2.180000	0.69256	0.533000	0.62120	AAG		0.413	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		5	221	0	0	0	0.010729	0	5	221				
HERC2	8924	broad.mit.edu	37	15	28389059	28389059	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28389059T>C	ENST00000261609.7	-	74	11486	c.11378A>G	c.(11377-11379)aAt>aGt	p.N3793S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCAGCCTATTTATGTTAAT	0.423																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11377-11379)aAt>aGt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							129.0	125.0	126.0					15																	28389059		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389059T>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11378A>G	15.37:g.28389059T>C	ENSP00000261609:p.Asn3793Ser						p.N3793S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	74	11486	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3793						Missense_Mutation	SNP	ENST00000261609.7	37	c.11378A>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936970	0.52972	.	.	ENSG00000128731	ENST00000261609	T	0.37058	1.22	5.59	3.29	0.37713	.	0.197246	0.50627	N	0.000101	T	0.15262	0.0368	N	0.02539	-0.55	0.49130	D	0.999751	B	0.15473	0.013	B	0.13407	0.009	T	0.04593	-1.0940	10	0.40728	T	0.16	.	9.8779	0.41216	0.0:0.1384:0.0:0.8616	.	3793	O95714	HERC2_HUMAN	S	3793	ENSP00000261609:N3793S	ENSP00000261609:N3793S	N	-	2	0	HERC2	26062654	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.964000	0.56780	0.493000	0.27837	0.533000	0.62120	AAT		0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	138	0	0	0	0.014758	0	5	138				
OR5AS1	219447	broad.mit.edu	37	11	55798086	55798086	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:55798086C>G	ENST00000313555.1	+	1	192	c.192C>G	c.(190-192)agC>agG	p.S64R		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATTTTCTTAGCAACTTATCTT	0.348																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(190-192)agC>agG		olfactory receptor, family 5, subfamily AS, member 1							55.0	56.0	56.0					11																	55798086		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798086C>G	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.192C>G	11.37:g.55798086C>G	ENSP00000324111:p.Ser64Arg						p.S64R	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	192	+	Esophageal squamous(21;0.00693)		64					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.192C>G	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546171	0.45383	.	.	ENSG00000181785	ENST00000313555	T	0.01099	5.34	5.65	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	0.174776	0.27231	U	0.020320	T	0.02230	0.0069	L	0.55481	1.735	0.18873	N	0.999988	P	0.50710	0.938	P	0.49226	0.603	T	0.38866	-0.9641	10	0.66056	D	0.02	.	10.5781	0.45240	0.0:0.6413:0.0:0.3587	.	64	Q8N127	O5AS1_HUMAN	R	64	ENSP00000324111:S64R	ENSP00000324111:S64R	S	+	3	2	OR5AS1	55554662	0.000000	0.05858	0.989000	0.46669	0.578000	0.36192	-1.747000	0.01827	0.198000	0.20407	0.643000	0.83706	AGC		0.348	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		7	57	0	0	0	0.001984	0	7	57				
IGLV1-50	28821	broad.mit.edu	37	22	22682036	22682036	+	RNA	SNP	G	G	A	rs113036480		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:22682036G>A	ENST00000390291.2	+	0	269									immunoglobulin lambda variable 1-50 (non-functional)																		TATGGTAACAGCAATCGGCCC	0.567																																						ENST00000390291.2																			0																				162.0	168.0	166.0					22																	22682036		1918	4129	6047			0							g.chr22:22682036G>A	M94112		22q11.2	2012-02-08	2008-09-15		ENSG00000211645	ENSG00000211645		"""Immunoglobulins / IGL locus"""	5881	other	immunoglobulin gene			"""immunoglobulin lambda variable 1-50"""				Standard	NG_000002		Approved				OTTHUMG00000151051		22.37:g.22682036G>A														0	269	+									RNA	SNP	ENST00000390291.2	37																																																																																						0.567	IGLV1-50-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321111.3	NG_000002		5	370	0	0	0	0.001168	0	5	370				
HERC2	8924	broad.mit.edu	37	15	28460828	28460828	+	Missense_Mutation	SNP	G	G	A	rs140060040	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28460828G>A	ENST00000261609.7	-	39	6257	c.6149C>T	c.(6148-6150)aCg>aTg	p.T2050M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGAGCAGCGTGATCCACTG	0.632																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6148-6150)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G	MET/THR	0,4404		0,0,2202	25.0	23.0	24.0		6149	4.3	0.5	15	dbSNP_134	24	1,8597	1.2+/-3.3	0,1,4298	no	missense	HERC2	NM_004667.4	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	2050/4835	28460828	1,13001	2202	4299	6501	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28460828G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6149C>T	15.37:g.28460828G>A	ENSP00000261609:p.Thr2050Met						p.T2050M	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	39	6257	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2050						Missense_Mutation	SNP	ENST00000261609.7	37	c.6149C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363436	0.41902	0.0	1.16E-4	ENSG00000128731	ENST00000261609	T	0.38401	1.14	4.28	4.28	0.50868	.	0.653399	0.15507	N	0.258730	T	0.24198	0.0586	N	0.22421	0.69	0.24868	N	0.992301	P	0.39940	0.696	B	0.29353	0.101	T	0.16100	-1.0414	10	0.49607	T	0.09	.	16.8998	0.86110	0.0:0.0:1.0:0.0	.	2050	O95714	HERC2_HUMAN	M	2050	ENSP00000261609:T2050M	ENSP00000261609:T2050M	T	-	2	0	HERC2	26134423	0.599000	0.26891	0.451000	0.26982	0.994000	0.84299	4.167000	0.58209	2.218000	0.71995	0.484000	0.47621	ACG		0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		12	16	0	0	0	0.013537	0	12	16				
PDGFD	80310	broad.mit.edu	37	11	103870852	103870852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:103870852G>A	ENST00000393158.2	-	2	435	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	PDGFD_ENST00000302251.5_Nonsense_Mutation_p.Q80*			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	86	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTATTCTCCTGAGAGTGAAGC	0.458																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(238-240)Cag>Tag		platelet derived growth factor D							143.0	139.0	141.0					11																	103870852		2202	4299	6501	SO:0001587	stop_gained	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870852G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.256C>T	11.37:g.103870852G>A	ENSP00000376865:p.Gln86*					PDGFD_ENST00000393158.2_Nonsense_Mutation_p.Q86*	p.Q80*	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	689	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	86			CUB.		A8K9T6|Q9BWV5	Nonsense_Mutation	SNP	ENST00000393158.2	37	c.238C>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472543	0.43942	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	.	.	.	5.4	5.4	0.78164	.	0.306788	0.34362	N	0.004035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-5.2743	15.0615	0.71958	0.0:0.1417:0.8583:0.0	.	.	.	.	X	86;80;109	.	ENSP00000302193:Q80X	Q	-	1	0	PDGFD	103376062	0.971000	0.33674	0.906000	0.35671	0.018000	0.09664	2.893000	0.48633	2.685000	0.91497	0.561000	0.74099	CAG		0.458	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		14	202	0	0	0	0.020292	0	14	202				
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557																																						ENST00000310164.2																			1	Substitution - Missense(1)	p.V71I(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(211-213)Gtc>Atc		zinc finger, CCHC domain containing 12							72.0	72.0	72.0					X																	117959418		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959418G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.211G>A	X.37:g.117959418G>A	ENSP00000308921:p.Val71Ile						p.V71I	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	718	+			71					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.211G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005467	0.19199	.	.	ENSG00000174460	ENST00000310164	T	0.09630	2.96	3.09	2.22	0.28083	.	0.295815	0.18444	N	0.141049	T	0.07052	0.0179	L	0.35854	1.095	0.23988	N	0.996251	B	0.18013	0.025	B	0.17979	0.02	T	0.39702	-0.9601	10	0.14656	T	0.56	-6.9045	5.1616	0.15064	0.1673:0.0:0.8327:0.0	.	71	Q6PEW1	ZCH12_HUMAN	I	71	ENSP00000308921:V71I	ENSP00000308921:V71I	V	+	1	0	ZCCHC12	117843446	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	1.020000	0.30027	0.687000	0.31509	0.594000	0.82650	GTC		0.557	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		18	76	0	0	0	0.004990	0	18	76				
TMEM104	54868	broad.mit.edu	37	17	72832630	72832630	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:72832630G>A	ENST00000335464.5	+	10	1457	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	TMEM104_ENST00000582330.1_Missense_Mutation_p.G432D|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	432						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCGGGCACCGGCATCCAGTAC	0.652																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1294-1296)gGc>gAc		transmembrane protein 104							56.0	46.0	50.0					17																	72832630		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832630G>A	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1295G>A	17.37:g.72832630G>A	ENSP00000334849:p.Gly432Asp					TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G432D|TMEM104_ENST00000417024.2_Intron	p.G432D	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1457	+	all_lung(278;0.23)		432					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1295G>A	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969284	0.92855	.	.	ENSG00000109066	ENST00000335464	T	0.46451	0.87	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72584	-0.4249	10	0.36615	T	0.2	-33.2239	19.021	0.92916	0.0:0.0:1.0:0.0	.	432	Q8NE00	TM104_HUMAN	D	432	ENSP00000334849:G432D	ENSP00000334849:G432D	G	+	2	0	TMEM104	70344225	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.420000	0.97426	2.584000	0.87258	0.462000	0.41574	GGC		0.652	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		4	49	0	0	0	0.014758	0	4	49				
RDX	5962	broad.mit.edu	37	11	110134885	110134885	+	Silent	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:110134885A>C	ENST00000343115.4	-	5	586	c.267T>G	c.(265-267)gtT>gtG	p.V89V	RDX_ENST00000544551.1_Intron|RDX_ENST00000530301.1_Silent_p.V57V|RDX_ENST00000528498.1_Silent_p.V89V|RDX_ENST00000405097.1_Silent_p.V89V|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	89	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ATTCCTCAGAAACATCTTCAG	0.343																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(265-267)gtT>gtG		radixin							42.0	44.0	43.0					11																	110134885		2201	4296	6497	SO:0001819	synonymous_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110134885A>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.267T>G	11.37:g.110134885A>C						RDX_ENST00000405097.1_Silent_p.V89V|RDX_ENST00000528498.1_Silent_p.V89V|RDX_ENST00000530301.1_Silent_p.V57V|RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Intron	p.V89V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	5	586	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	89			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	c.267T>G	CCDS8343.1																																																																																				0.343	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		7	56	0	0	0	0.003080	0	7	56				
GPAT2	150763	broad.mit.edu	37	2	96691942	96691942	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:96691942A>G	ENST00000434632.1	-	12	1603	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L|GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	382					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGCAGGGAAAAGGGCTGAGCT	0.647																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1144-1146)Ttt>Ctt		glycerol-3-phosphate acyltransferase 2, mitochondrial							31.0	33.0	32.0					2																	96691942		1934	4129	6063	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96691942A>G	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1144T>C	2.37:g.96691942A>G	ENSP00000389395:p.Phe382Leu					GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L|GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L	p.F382L			Q6NUI2	GPAT2_HUMAN			12	1603	-			382					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1144T>C	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	a	19.71	3.878984	0.72294	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.65498	2.005	0.42849	D	0.994078	D;D;D;D;D	0.89917	0.982;0.998;1.0;0.998;0.982	D;D;D;D;D	0.91635	0.961;0.994;0.999;0.994;0.961	T	0.76666	-0.2875	10	0.54805	T	0.06	-9.8225	10.5837	0.45269	1.0:0.0:0.0:0.0	.	311;382;382;382;311	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	L	382;382;311;382	ENSP00000352547:F382L;ENSP00000389395:F382L;ENSP00000393770:F311L;ENSP00000366341:F382L	ENSP00000352547:F382L	F	-	1	0	GPAT2	96055669	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.558000	0.67319	1.763000	0.52060	0.455000	0.32223	TTT		0.647	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		3	81	0	0	0	0.004672	0	3	81				
UGT1A6	54578	broad.mit.edu	37	2	234681041	234681041	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:234681041G>A	ENST00000305139.6	+	5	1574	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A1_ENST00000609637.1_Missense_Mutation_p.D477N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A1_ENST00000608383.1_Missense_Mutation_p.D480N|UGT1A1_ENST00000609767.1_Missense_Mutation_p.D481N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A1_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A1_ENST00000608381.1_Missense_Mutation_p.D481N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N|UGT1A8_ENST00000305208.5_Missense_Mutation_p.D480N	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	479					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CGCAGCCCACGACCTCACCTG	0.597																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1435-1437)Gac>Aac									155.0	128.0	137.0					2																	234681041		2203	4300	6503	SO:0001583	missense	0							g.chr2:234681041G>A	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1435G>A	2.37:g.234681041G>A	ENSP00000303174:p.Asp479Asn					UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A8_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A1_ENST00000305208.5_Missense_Mutation_p.D480N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N	p.D479N	NM_001072.3	NP_001063.2				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	5	1574	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.1435G>A	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701229	0.88924	.	.	ENSG00000242366;ENSG00000242515;ENSG00000241119;ENSG00000244122;ENSG00000167165;ENSG00000167165;ENSG00000240224;ENSG00000244474;ENSG00000243135;ENSG00000241635	ENST00000373450;ENST00000344644;ENST00000354728;ENST00000373426;ENST00000373424;ENST00000305139;ENST00000373414;ENST00000373409;ENST00000482026;ENST00000305208	T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.83	4.95	0.65309	.	0.103647	0.64402	D	0.000005	T	0.76040	0.3932	L	0.60067	1.865	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.988;0.98;0.999;1.0;0.997;0.991;0.999;0.999;0.938	T	0.75578	-0.3269	10	0.38643	T	0.18	.	16.9581	0.86265	0.0:0.1277:0.8723:0.0	.	480;481;481;481;479;477;477;477;477	P22309;P35503;P22310;P35504;P19224;Q9HAW7;O60656;Q9HAW8;Q9HAW9	UD11_HUMAN;UD13_HUMAN;UD14_HUMAN;UD15_HUMAN;UD16_HUMAN;UD17_HUMAN;UD19_HUMAN;UD110_HUMAN;UD18_HUMAN	N	477;477;477;477;212;479;481;481;481;480	ENSP00000362549:D477N;ENSP00000343838:D477N;ENSP00000346768:D477N;ENSP00000362525:D477N;ENSP00000362523:D212N;ENSP00000303174:D479N;ENSP00000362513:D481N;ENSP00000362508:D481N;ENSP00000418532:D481N;ENSP00000304845:D480N	ENSP00000343838:D477N	D	+	1	0	UGT1A7;UGT1A6;UGT1A10;UGT1A9;UGT1A8;UGT1A3;UGT1A5;UGT1A4;UGT1A1	234345780	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	3.779000	0.55379	1.451000	0.47736	0.655000	0.94253	GAC		0.597	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		5	224	0	0	0	0.001168	0	5	224				
MED7	9443	broad.mit.edu	37	5	156566369	156566369	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:156566369T>C	ENST00000286317.5	-	2	455	c.74A>G	c.(73-75)aAt>aGt	p.N25S	MED7_ENST00000420343.1_Missense_Mutation_p.N25S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	25					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGAATATTTTCATCCGT	0.438																																						ENST00000286317.5																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(73-75)aAt>aGt		mediator complex subunit 7							90.0	86.0	87.0					5																	156566369		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566369T>C	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.74A>G	5.37:g.156566369T>C	ENSP00000286317:p.Asn25Ser					MED7_ENST00000420343.1_Missense_Mutation_p.N25S	p.N25S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	455	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	25						Missense_Mutation	SNP	ENST00000286317.5	37	c.74A>G	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630870	0.67015	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	M	0.64630	1.985	0.58432	D	0.999999	P	0.50943	0.94	P	0.58391	0.838	T	0.72204	-0.4361	9	0.36615	T	0.2	-11.9378	15.9745	0.80049	0.0:0.0:0.0:1.0	.	25	O43513	MED7_HUMAN	S	25	.	ENSP00000286317:N25S	N	-	2	0	MED7	156498947	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.874000	0.69652	2.168000	0.68352	0.533000	0.62120	AAT		0.438	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		10	85	0	0	0	0.006214	0	10	85				
C3orf30	152405	broad.mit.edu	37	3	118870125	118870125	+	Silent	SNP	C	C	T	rs372890708		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:118870125C>T	ENST00000295622.1	+	3	1637	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	533										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAATTTTATGCTGTGCCAGGT	0.363																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(1597-1599)Ctg>Ttg		chromosome 3 open reading frame 30		C		0,4406		0,0,2203	174.0	186.0	182.0		1597	5.0	1.0	3		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C3orf30	NM_152539.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		533/537	118870125	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118870125C>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1597C>T	3.37:g.118870125C>T						RP11-484M3.5_ENST00000490594.1_Intron	p.L533L	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	1637	+			533					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.1597C>T	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	C	8.468	0.856895	0.17106	0.0	1.16E-4	ENSG00000163424	ENST00000492792	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	T	0.68988	0.3061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67150	-0.5743	4	.	.	.	-12.0838	13.6835	0.62502	0.0:1.0:0.0:0.0	.	.	.	.	V	218	.	.	A	+	2	0	C3orf30	120352815	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	1.581000	0.36558	2.608000	0.88229	0.591000	0.81541	GCT		0.363	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		4	283	0	0	0	0.014758	0	4	283				
FSD1	79187	broad.mit.edu	37	19	4311913	4311913	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:4311913C>T	ENST00000221856.6	+	7	712	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.P189S	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	189	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCATGCCGGATGAGGA	0.632																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(565-567)Ccg>Tcg		fibronectin type III and SPRY domain containing 1							137.0	103.0	114.0					19																	4311913		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4311913C>T	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.565C>T	19.37:g.4311913C>T	ENSP00000221856:p.Pro189Ser					FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.P189S	p.P189S	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	7	712	+			189			Fibronectin type-III.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.565C>T	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585069	0.66105	.	.	ENSG00000105255	ENST00000221856	T	0.80824	-1.42	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89815	0.6824	M	0.83483	2.645	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	D	0.90320	0.4344	10	0.51188	T	0.08	.	16.4961	0.84246	0.0:1.0:0.0:0.0	.	189	Q9BTV5	FSD1_HUMAN	S	189	ENSP00000221856:P189S	ENSP00000221856:P189S	P	+	1	0	FSD1	4262913	1.000000	0.71417	0.998000	0.56505	0.455000	0.32408	5.608000	0.67654	2.491000	0.84063	0.561000	0.74099	CCG		0.632	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		4	81	0	0	0	0.014758	0	4	81				
GPR87	53836	broad.mit.edu	37	3	151012049	151012049	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:151012049A>T	ENST00000260843.4	-	3	1449	c.985T>A	c.(985-987)Tca>Aca	p.S329T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	329					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGATATTTGATTTTTTGAAC	0.358																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(985-987)Tca>Aca		G protein-coupled receptor 87							142.0	144.0	143.0					3																	151012049		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012049A>T	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.985T>A	3.37:g.151012049A>T	ENSP00000260843:p.Ser329Thr					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.S329T	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1449	-			329					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.985T>A	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626976	0.66901	.	.	ENSG00000138271	ENST00000260843	T	0.37411	1.2	5.24	5.24	0.73138	.	0.094647	0.46758	D	0.000264	T	0.20292	0.0488	N	0.08118	0	0.42919	D	0.994282	P	0.48764	0.915	B	0.40940	0.344	T	0.07233	-1.0783	10	0.18710	T	0.47	-7.4816	15.4426	0.75200	1.0:0.0:0.0:0.0	.	329	Q9BY21	GPR87_HUMAN	T	329	ENSP00000260843:S329T	ENSP00000260843:S329T	S	-	1	0	GPR87	152494739	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.822000	0.69265	2.109000	0.64355	0.533000	0.62120	TCA		0.358	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			7	163	0	0	0	0.001984	0	7	163				
CEP170B	283638	broad.mit.edu	37	14	105353382	105353382	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr14:105353382G>A	ENST00000414716.3	+	12	3034	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	CEP170B_ENST00000556508.1_Missense_Mutation_p.E866K|CEP170B_ENST00000453495.1_Missense_Mutation_p.E937K|CEP170B_ENST00000418279.1_Missense_Mutation_p.E866K	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	936						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TGTGGATGCCGAGTGTGAGGG	0.662																																						ENST00000453495.1																			0											c.(2809-2811)Gag>Aag		centrosomal protein 170B							29.0	40.0	36.0					14																	105353382		2008	4139	6147	SO:0001583	missense	283638							g.chr14:105353382G>A	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.2806G>A	14.37:g.105353382G>A	ENSP00000404151:p.Glu936Lys					CEP170B_ENST00000418279.1_Missense_Mutation_p.E866K|CEP170B_ENST00000556508.1_Missense_Mutation_p.E866K|CEP170B_ENST00000414716.3_Missense_Mutation_p.E936K	p.E937K							12	3037	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2809G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571713	0.28003	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.43688	0.94;0.95;0.94;0.94	4.18	3.27	0.37495	.	1.778880	0.03038	N	0.153036	T	0.47764	0.1463	L	0.47716	1.5	0.09310	N	1	D;D;D	0.63046	0.992;0.978;0.982	P;B;P	0.51866	0.682;0.358;0.452	T	0.32534	-0.9903	10	0.12430	T	0.62	-20.7726	9.7706	0.40587	0.0:0.2302:0.7698:0.0	.	936;936;866	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	K	866;936;937;866	ENSP00000451249:E866K;ENSP00000404151:E936K;ENSP00000407238:E937K;ENSP00000415006:E866K	ENSP00000404151:E936K	E	+	1	0	KIAA0284	104424427	0.395000	0.25254	0.001000	0.08648	0.143000	0.21401	0.741000	0.26202	0.723000	0.32274	0.491000	0.48974	GAG		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		30	41	0	0	0	0.008361	0	30	41				
BCKDK	10295	broad.mit.edu	37	16	31121057	31121057	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:31121057C>T	ENST00000394951.1	+	5	951	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	BCKDK_ENST00000287507.3_Missense_Mutation_p.R110C|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Missense_Mutation_p.R110C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R110C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	110					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CAAGGGCTTCCGCTGCCTTCC	0.587																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(328-330)Cgc>Tgc		branched chain ketoacid dehydrogenase kinase							77.0	71.0	73.0					16																	31121057		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31121057C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.328C>T	16.37:g.31121057C>T	ENSP00000378405:p.Arg110Cys					BCKDK_ENST00000287507.3_Missense_Mutation_p.R110C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R110C|BCKDK_ENST00000219794.6_Missense_Mutation_p.R110C	p.R110C			O14874	BCKD_HUMAN			5	951	+			110					A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.328C>T	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985386	0.93044	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.69	5.69	0.88448	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.68773	-0.5320	10	0.87932	D	0	-15.9838	18.5641	0.91111	0.0:1.0:0.0:0.0	.	110;110	Q96G95;O14874	.;BCKD_HUMAN	C	110	ENSP00000378405:R110C;ENSP00000219794:R110C;ENSP00000378404:R110C;ENSP00000287507:R110C	ENSP00000219794:R110C	R	+	1	0	BCKDK	31028558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.840000	0.75369	2.684000	0.91462	0.655000	0.94253	CGC		0.587	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		11	96	0	0	0	0.010729	0	11	96				
RAD21	5885	broad.mit.edu	37	8	117869555	117869555	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:117869555A>C	ENST00000297338.2	-	6	926	c.639T>G	c.(637-639)gaT>gaG	p.D213E	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	213					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTTATATTGATCTTCATATT	0.333																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(637-639)gaT>gaG		RAD21 homolog (S. pombe)							168.0	170.0	169.0					8																	117869555		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117869555A>C	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.639T>G	8.37:g.117869555A>C	ENSP00000297338:p.Asp213Glu					RAD21_ENST00000523547.1_5'UTR	p.D213E	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			6	926	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		213					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.639T>G	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591476	0.46214	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.51325	0.71;1.61;1.61	5.47	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	M	0.75615	2.305	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30297	-0.9983	10	0.02654	T	1	-7.0974	8.5	0.33152	0.1403:0.1271:0.7327:0.0	.	213	O60216	RAD21_HUMAN	E	213	ENSP00000297338:D213E;ENSP00000429342:D213E;ENSP00000427923:D213E	ENSP00000297338:D213E	D	-	3	2	RAD21	117938736	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.419000	0.34793	0.792000	0.33850	-0.237000	0.12165	GAT		0.333	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		15	109	0	0	0	0.003163	0	15	109				
GTSE1	51512	broad.mit.edu	37	22	46704680	46704680	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:46704680G>A	ENST00000454366.1	+	4	814	c.602G>A	c.(601-603)cGg>cAg	p.R201Q		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	182					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.R182H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGCCTCACCCGGGCGCCGGGG	0.687																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			1	Substitution - Missense(1)	p.R182H(1)	skin(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(601-603)cGg>cAg		G-2 and S-phase expressed 1																																				SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704680G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.602G>A	22.37:g.46704680G>A	ENSP00000415430:p.Arg201Gln						p.R201Q	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	814	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	182					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.602G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661964	0.14645	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06068	3.35	4.92	-9.6	0.00553	.	2.938080	0.00766	N	0.001175	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.34875	-0.9811	10	0.24483	T	0.36	0.0368	3.8761	0.09058	0.188:0.3273:0.3775:0.1072	.	182	Q9NYZ3	GTSE1_HUMAN	Q	201;161	ENSP00000415430:R201Q	ENSP00000354634:R161Q	R	+	2	0	GTSE1	45083344	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.781000	0.04648	-2.241000	0.00709	-1.261000	0.01458	CGG		0.687	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	181	0	0	0	0.009096	0	4	181				
KCNH8	131096	broad.mit.edu	37	3	19554646	19554646	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:19554646A>C	ENST00000328405.2	+	13	2530	c.2264A>C	c.(2263-2265)cAa>cCa	p.Q755P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	755					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGCTTAAAGCAACTGGCCTCG	0.517																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2263-2265)cAa>cCa		potassium voltage-gated channel, subfamily H (eag-related), member 8							94.0	87.0	90.0					3																	19554646		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554646A>C	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2264A>C	3.37:g.19554646A>C	ENSP00000328813:p.Gln755Pro						p.Q755P	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			13	2530	+			755					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2264A>C	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115933	0.37339	.	.	ENSG00000183960	ENST00000328405	D	0.98567	-5.0	5.87	5.87	0.94306	.	0.000000	0.30658	U	0.009155	D	0.95859	0.8652	L	0.41710	1.295	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.93779	0.7082	9	.	.	.	.	14.8558	0.70335	1.0:0.0:0.0:0.0	.	755	Q96L42	KCNH8_HUMAN	P	755	ENSP00000328813:Q755P	.	Q	+	2	0	KCNH8	19529650	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.046000	0.71029	2.242000	0.73789	0.528000	0.53228	CAA		0.517	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		4	135	0	0	0	0.009096	0	4	135				
PIK3CA	5290	broad.mit.edu	37	3	178951958	178951958	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:178951958A>G	ENST00000263967.3	+	21	3170	c.3013A>G	c.(3013-3015)Atg>Gtg	p.M1005V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1005	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1005V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTCTCAATGATGCTTGGCTC	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1	Substitution - Missense(1)	p.M1005V(1)	central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3013-3015)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							112.0	102.0	106.0					3																	178951958		1889	4107	5996	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178951958A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3013A>G	3.37:g.178951958A>G	ENSP00000263967:p.Met1005Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1005V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3170	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1005			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3013A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661811	0.47572	.	.	ENSG00000121879	ENST00000263967	D	0.82893	-1.66	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89294	0.6674	M	0.89785	3.06	0.80722	D	1	P	0.39717	0.684	P	0.45099	0.469	D	0.90824	0.4711	10	0.87932	D	0	-19.3218	16.635	0.85050	1.0:0.0:0.0:0.0	.	1005	P42336	PK3CA_HUMAN	V	1005	ENSP00000263967:M1005V	ENSP00000263967:M1005V	M	+	1	0	PIK3CA	180434652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.820000	0.92003	2.330000	0.79161	0.477000	0.44152	ATG		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	101	0	0	0	0.008291	0	10	101				
VPS13C	54832	broad.mit.edu	37	15	62201315	62201315	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:62201315T>C	ENST00000261517.5	-	65	8927	c.8854A>G	c.(8854-8856)Atc>Gtc	p.I2952V	VPS13C_ENST00000395898.3_Missense_Mutation_p.I2909V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I2909V|VPS13C_ENST00000395896.4_Missense_Mutation_p.I2952V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCACCAAGATACCCCCATTC	0.348																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(8854-8856)Atc>Gtc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							118.0	113.0	115.0					15																	62201315		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62201315T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8854A>G	15.37:g.62201315T>C	ENSP00000261517:p.Ile2952Val					VPS13C_ENST00000395896.4_Missense_Mutation_p.I2952V|VPS13C_ENST00000395898.3_Missense_Mutation_p.I2909V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I2909V	p.I2952V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			65	8927	-			2952						Missense_Mutation	SNP	ENST00000261517.5	37	c.8854A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144765	0.37825	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.33216	1.42;1.42;1.42	6.03	6.03	0.97812	Vacuolar protein sorting-associated protein (1);	0.052396	0.64402	D	0.000001	T	0.25644	0.0624	L	0.38175	1.15	0.49483	D	0.999792	B;B;B;B;B	0.30482	0.158;0.028;0.124;0.281;0.15	B;B;B;B;B	0.31101	0.117;0.076;0.076;0.117;0.124	T	0.05419	-1.0886	10	0.33141	T	0.24	.	12.2377	0.54524	0.1343:0.0:0.0:0.8657	.	2952;2909;2952;2909;2952	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	V	2909;2952;2952;2952	ENSP00000249837:I2909V;ENSP00000261517:I2952V;ENSP00000379233:I2952V	ENSP00000249837:I2909V	I	-	1	0	VPS13C	59988607	0.994000	0.37717	0.986000	0.45419	0.694000	0.40290	1.958000	0.40402	2.302000	0.77476	0.533000	0.62120	ATC		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	51	0	0	0	0.014758	0	5	51				
SIK2	23235	broad.mit.edu	37	11	111487048	111487048	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:111487048A>C	ENST00000304987.3	+	2	390	c.217A>C	c.(217-219)Atg>Ctg	p.M73L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AATAATGAAAATGTTAGACCA	0.373																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(217-219)Atg>Ctg		salt-inducible kinase 2							116.0	109.0	112.0					11																	111487048		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111487048A>C	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.217A>C	11.37:g.111487048A>C	ENSP00000305976:p.Met73Leu						p.M73L	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			2	390	+			73			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.217A>C	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	A	8.262	0.811332	0.16537	.	.	ENSG00000170145	ENST00000304987	T	0.64260	-0.09	5.31	-2.07	0.07276	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.158008	0.64402	N	0.000002	T	0.21267	0.0512	N	0.01228	-0.945	0.49213	D	0.999766	B	0.02656	0.0	B	0.06405	0.002	T	0.37526	-0.9702	10	0.02654	T	1	.	6.3684	0.21468	0.3952:0.2472:0.0:0.3576	.	73	Q9H0K1	SIK2_HUMAN	L	73	ENSP00000305976:M73L	ENSP00000305976:M73L	M	+	1	0	SIK2	110992258	0.984000	0.35163	0.978000	0.43139	0.990000	0.78478	0.616000	0.24344	-0.690000	0.05142	-0.429000	0.05907	ATG		0.373	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		11	71	0	0	0	0.013537	0	11	71				
MAN2A2	4122	broad.mit.edu	37	15	91450665	91450665	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:91450665G>A	ENST00000559717.1	+	8	1595	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	MAN2A2_ENST00000360468.3_Missense_Mutation_p.R379H|MAN2A2_ENST00000431652.2_5'UTR			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	379					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGTGGGCGCATCAACTGC	0.567																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1135-1137)cGc>cAc		mannosidase, alpha, class 2A, member 2							68.0	67.0	67.0					15																	91450665		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91450665G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1136G>A	15.37:g.91450665G>A	ENSP00000452948:p.Arg379His					MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H	p.R379H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		7	1154	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		379					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1136G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036754	0.93630	.	.	ENSG00000196547	ENST00000360468	T	0.23348	1.91	5.67	5.67	0.87782	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72625	0.978;0.975;0.978	T	0.58440	-0.7636	10	0.15499	T	0.54	-27.9461	19.8235	0.96607	0.0:0.0:1.0:0.0	.	49;379;379	B4DIK4;P49641-1;P49641	.;.;MA2A2_HUMAN	H	379	ENSP00000353655:R379H	ENSP00000353655:R379H	R	+	2	0	MAN2A2	89251669	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.776000	0.99001	2.696000	0.92011	0.456000	0.33151	CGC		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		4	93	0	0	0	0.014758	0	4	93				
TMEM120B	144404	broad.mit.edu	37	12	122190038	122190038	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:122190038G>A	ENST00000449592.2	+	5	471	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	124						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGGCAGGTTCGCCTACAAGGA	0.567																																						ENST00000449592.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11						c.(370-372)Gcc>Acc		transmembrane protein 120B							87.0	106.0	100.0					12																	122190038		2134	4228	6362	SO:0001583	missense	144404					integral to membrane		g.chr12:122190038G>A	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.370G>A	12.37:g.122190038G>A	ENSP00000404991:p.Ala124Thr					TMEM120B_ENST00000540377.1_5'UTR	p.A124T	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	5	471	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		124					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.370G>A	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513320	0.85389	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.32272	1.46;1.46	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.62305	-0.6882	10	0.56958	D	0.05	-21.8422	15.8383	0.78818	0.0:0.0:1.0:0.0	.	124	A0PK00	T120B_HUMAN	T	124;103	ENSP00000404991:A124T;ENSP00000442105:A103T	ENSP00000345152:A124T	A	+	1	0	TMEM120B	120674421	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.405000	0.97313	2.387000	0.81309	0.491000	0.48974	GCC		0.567	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		11	96	0	0	0	0.010729	0	11	96				
HRNR	388697	broad.mit.edu	37	1	152193268	152193268	+	Silent	SNP	C	C	T	rs150466362		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:152193268C>T	ENST00000368801.2	-	3	912	c.837G>A	c.(835-837)tcG>tcA	p.S279S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	279					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		21772	0.0		0.0	False		,,,				2504	0.001					ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(835-837)tcG>tcA		hornerin		C		1,4405	2.1+/-5.4	0,1,2202	281.0	256.0	265.0		837	-2.8	0.0	1	dbSNP_134	265	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HRNR	NM_001009931.1		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		279/2851	152193268	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193268C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.837G>A	1.37:g.152193268C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S279S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	912	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		279					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.837G>A	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		37	560	0	0	0	0.006999	0	37	560				
MOCS2	4338	broad.mit.edu	37	5	52402983	52402983	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:52402983A>G	ENST00000396954.3	-	3	699	c.22T>C	c.(22-24)Tcc>Ccc	p.S8P	MOCS2_ENST00000584946.1_Missense_Mutation_p.L70P|MOCS2_ENST00000450852.3_Missense_Mutation_p.L70P|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000582677.1_Missense_Mutation_p.L70P|MOCS2_ENST00000361377.4_Missense_Mutation_p.L70P|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000527216.1_Missense_Mutation_p.L65P|MOCS2_ENST00000510818.2_Missense_Mutation_p.L70P|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000508922.1_Missense_Mutation_p.L70P	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AAGCACGAGGAGCTGATCTCC	0.408																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(208-210)cTc>cCc		molybdenum cofactor synthesis 2							92.0	82.0	86.0					5																	52402983		2203	4300	6503	SO:0001583	missense	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402983A>G	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.22T>C	5.37:g.52402983A>G	ENSP00000380157:p.Ser8Pro					MOCS2_ENST00000510818.2_Missense_Mutation_p.L70P|MOCS2_ENST00000508922.1_Missense_Mutation_p.L70P|MOCS2_ENST00000450852.3_Missense_Mutation_p.L70P|MOCS2_ENST00000584946.1_Missense_Mutation_p.L70P|MOCS2_ENST00000396954.3_Missense_Mutation_p.S8P|MOCS2_ENST00000582677.1_Missense_Mutation_p.L70P	p.L70P			O96033	MOC2A_HUMAN			3	250	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	70						Missense_Mutation	SNP	ENST00000396954.3	37	c.209T>C	CCDS3958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.35|12.35	1.911921|1.911921	0.33721|0.33721	.|.	.|.	ENSG00000164172|ENSG00000164172	ENST00000361377;ENST00000510818;ENST00000450852;ENST00000508922|ENST00000396954;ENST00000527216	T;T;T;T|T	0.62941|0.19806	-0.01;-0.01;-0.01;-0.01|2.12	5.75|5.75	4.57|4.57	0.56435|0.56435	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);|.	.|0.711960	.|0.13238	.|N	.|0.403099	T|T	0.18593|0.18593	0.0446|0.0446	.|.	.|.	.|.	0.39958|0.39958	D|D	0.974625|0.974625	B|P	0.11235|0.43169	0.004|0.8	B|B	0.12156|0.38562	0.007|0.276	T|T	0.02567|0.02567	-1.1140|-1.1140	8|8	0.44086|.	T|.	0.13|.	-1.4619|-1.4619	11.8754|11.8754	0.52544|0.52544	0.8654:0.0:0.0:0.1346|0.8654:0.0:0.0:0.1346	.|.	70|8	O96033|O96007	MOC2A_HUMAN|MOC2B_HUMAN	P|P	70|8	ENSP00000355160:L70P;ENSP00000424267:L70P;ENSP00000411022:L70P;ENSP00000426274:L70P|ENSP00000380157:S8P	ENSP00000355160:L70P|.	L|S	-|-	2|1	0|0	MOCS2|MOCS2	52438740|52438740	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.986000|0.986000	0.74619|0.74619	3.483000|3.483000	0.53194|0.53194	0.965000|0.965000	0.38133|0.38133	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.408	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		8	75	0	0	0	0.003080	0	8	75				
MAP10	54627	broad.mit.edu	37	1	232941483	232941483	+	Silent	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:232941483C>T	ENST00000418460.1	+	1	841	c.714C>T	c.(712-714)ctC>ctT	p.L238L		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	96					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AGTCCTGCCTCTTCCGCCTGC	0.721																																						ENST00000418460.1																			0											c.(712-714)ctC>ctT		microtubule-associated protein 10							9.0	12.0	11.0					1																	232941483		1985	4119	6104	SO:0001819	synonymous_variant	54627							g.chr1:232941483C>T	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.714C>T	1.37:g.232941483C>T							p.L238L	NM_019090.2	NP_061963.2					1	841	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	ENST00000418460.1	37	c.714C>T	CCDS44334.1																																																																																				0.721	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		5	32	0	0	0	0.001984	0	5	32				
COL4A6	1288	broad.mit.edu	37	X	107402954	107402954	+	Missense_Mutation	SNP	C	C	T	rs367690342		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:107402954C>T	ENST00000372216.4	-	44	4653	c.4553G>A	c.(4552-4554)cGc>cAc	p.R1518H	COL4A6_ENST00000334504.7_Missense_Mutation_p.R1517H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1460H|COL4A6_ENST00000545689.1_Missense_Mutation_p.R1493H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R52H|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1518H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1518	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTGCTGAAGCGGGGCAGACA	0.562									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4552-4554)cGc>cAc		collagen, type IV, alpha 6		C	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	94.0	94.0	94.0		4553,4550	2.1	1.0	X		94	1,6727		0,1,2427,1872	no	missense,missense	COL4A6	NM_001847.2,NM_033641.2	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	1518/1692,1517/1691	107402954	1,10562	2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402954C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4553G>A	X.37:g.107402954C>T	ENSP00000361290:p.Arg1518His					COL4A6_ENST00000545689.1_Missense_Mutation_p.R1493H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1460H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R52H|COL4A6_ENST00000372216.4_Missense_Mutation_p.R1518H|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1517H	p.R1518H			Q14031	CO4A6_HUMAN			44	4784	-			1518			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4553G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034302	0.35893	0.0	1.49E-4	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	4.82	2.07	0.26955	C-type lectin fold (1);	0.202603	0.24967	N	0.034171	D	0.90535	0.7034	M	0.64080	1.96	0.36952	D	0.892902	P;P;P;P;P	0.51449	0.945;0.673;0.553;0.454;0.945	B;B;B;B;B	0.35859	0.133;0.2;0.033;0.056;0.212	D	0.88385	0.3004	10	0.87932	D	0	.	9.7443	0.40437	0.0:0.762:0.0:0.238	.	1493;52;1460;1518;1517	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	H	52;1518;1517;1518;1505;1493;1460	ENSP00000406002:R52H;ENSP00000361290:R1518H;ENSP00000334733:R1517H;ENSP00000378340:R1518H;ENSP00000443707:R1493H;ENSP00000445236:R1460H	ENSP00000334733:R1517H	R	-	2	0	COL4A6	107289610	0.997000	0.39634	0.996000	0.52242	0.977000	0.68977	2.150000	0.42254	0.172000	0.19760	0.529000	0.55759	CGC		0.562	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			37	108	0	0	0	0.006230	0	37	108				
TFPI	7035	broad.mit.edu	37	2	188332562	188332562	+	Silent	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:188332562G>A	ENST00000233156.3	-	7	1020	c.726C>T	c.(724-726)tgC>tgT	p.C242C	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.C242C	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	242	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TAAATGGGCGGCATTTCCCAA	0.418																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(724-726)tgC>tgT		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						150.0	143.0	146.0					2																	188332562		2203	4300	6503	SO:0001819	synonymous_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188332562G>A		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.726C>T	2.37:g.188332562G>A						AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.C242C|AC007319.1_ENST00000453517.1_RNA	p.C242C	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		7	1020	-			242			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Silent	SNP	ENST00000233156.3	37	c.726C>T	CCDS2294.1																																																																																				0.418	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		4	99	0	0	0	0.009096	0	4	99				
XRN2	22803	broad.mit.edu	37	20	21336757	21336757	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr20:21336757G>A	ENST00000377191.3	+	22	2155	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	XRN2_ENST00000539513.1_Missense_Mutation_p.G633E|XRN2_ENST00000430571.2_Missense_Mutation_p.G611E	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	687					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTATTTGTGGGGAAACATCAC	0.383																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2059-2061)gGg>gAg		5'-3' exoribonuclease 2							137.0	132.0	134.0					20																	21336757		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21336757G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2060G>A	20.37:g.21336757G>A	ENSP00000366396:p.Gly687Glu					XRN2_ENST00000430571.2_Missense_Mutation_p.G611E|XRN2_ENST00000539513.1_Missense_Mutation_p.G633E	p.G687E	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			22	2155	+			687					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2060G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225220	0.79576	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.29917	1.56;1.55;1.56	5.93	5.93	0.95920	.	0.092203	0.85682	D	0.000000	T	0.46600	0.1401	M	0.77103	2.36	0.80722	D	1	P	0.50528	0.936	P	0.47430	0.547	T	0.35699	-0.9778	10	0.33141	T	0.24	-15.9696	20.3495	0.98807	0.0:0.0:1.0:0.0	.	687	Q9H0D6	XRN2_HUMAN	E	687;611;633	ENSP00000366396:G687E;ENSP00000413548:G611E;ENSP00000441113:G633E	ENSP00000366396:G687E	G	+	2	0	XRN2	21284757	1.000000	0.71417	0.994000	0.49952	0.869000	0.49853	6.358000	0.73055	2.814000	0.96858	0.591000	0.81541	GGG		0.383	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		16	128	0	0	0	0.007413	0	16	128				
CLEC4M	10332	broad.mit.edu	37	19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1078-1080)Ccc>Tcc		C-type lectin domain family 4, member M							165.0	152.0	157.0					19																	7833752		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833752C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1078C>T	19.37:g.7833752C>T	ENSP00000316228:p.Pro360Ser					CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S	p.P360S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			7	1196	+			360			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1078C>T	CCDS12187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.511621|2.511621	0.44660|0.44660	.|.	.|.	ENSG00000104938|ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059|ENST00000357361	T;T;T;T;T|T	0.70631|0.03358	-0.5;-0.5;-0.5;-0.5;-0.5|3.96	2.46|2.46	2.46|2.46	0.29980|0.29980	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|T	0.03915|0.03915	0.0110|0.0110	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D|B;B	0.89917|0.23735	0.996;0.999;1.0;1.0;1.0;0.999|0.09;0.062	D;D;D;D;D;D|B;B	0.97110|0.23716	0.968;0.991;1.0;1.0;0.997;0.991|0.048;0.03	T|T	0.33111|0.33111	-0.9881|-0.9881	8|8	0.87932|0.87932	D|D	0|0	.|.	8.5871|8.5871	0.33664|0.33664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;293;360;348;337;224|294;230	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7|Q9H2X3-9;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.|.;.	S|I	360;348;338;309;293|322	ENSP00000316228:P360S;ENSP00000377680:P348S;ENSP00000248228:P338S;ENSP00000335228:P309S;ENSP00000351954:P293S|ENSP00000349924:T322I	ENSP00000248228:P338S|ENSP00000349924:T322I	P|T	+|+	1|2	0|0	CLEC4M|CLEC4M	7739752|7739752	0.699000|0.699000	0.27786|0.27786	0.209000|0.209000	0.23619|0.23619	0.004000|0.004000	0.04260|0.04260	2.972000|2.972000	0.49256|0.49256	1.700000|1.700000	0.51204|0.51204	0.306000|0.306000	0.20318|0.20318	CCC|ACC		0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		23	186	0	0	0	0.006320	0	23	186				
CCDC88A	55704	broad.mit.edu	37	2	55544946	55544946	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:55544946G>T	ENST00000436346.1	-	20	4197	c.3356C>A	c.(3355-3357)aCc>aAc	p.T1119N	CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1118N|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1118N|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1119N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1119					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CATGAGTGAGGTACTTTGGGA	0.333																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3355-3357)aCc>aAc		coiled-coil domain containing 88A							129.0	132.0	131.0					2																	55544946		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55544946G>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3356C>A	2.37:g.55544946G>T	ENSP00000410608:p.Thr1119Asn					CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1118N|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1118N|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1119N|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	p.T1119N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			20	4197	-			1119					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3356C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.31|18.31	3.595211|3.595211	0.66219|0.66219	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	T;T;T;D;T;T|.	0.81908|.	2.47;2.7;2.69;-1.55;2.48;1.45|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.000000|.	0.49305|.	U|.	0.000146|.	T|.	0.58991|.	0.2161|.	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	P;P;P;P;P|.	0.51653|.	0.57;0.947;0.858;0.911;0.893|.	B;P;B;P;P|.	0.52386|.	0.334;0.697;0.334;0.547;0.543|.	T|.	0.49969|.	-0.8882|.	10|.	0.42905|.	T|.	0.14|.	-9.1126|-9.1126	20.5373|20.5373	0.99239|0.99239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1118;1119;1119;1118;1118|.	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;GRDN_HUMAN;.;.|.	N|X	1118;1119;1119;164;1118;294|99	ENSP00000338728:T1118N;ENSP00000263630:T1119N;ENSP00000410608:T1119N;ENSP00000390012:T164N;ENSP00000404431:T1118N;ENSP00000405080:T294N|.	ENSP00000263630:T1119N|.	T|Y	-|-	2|3	0|2	CCDC88A|CCDC88A	55398450|55398450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	9.623000|9.623000	0.98386|0.98386	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	ACC|TAC		0.333	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		13	87	1	0	0.000219431	0.020292	0.000343776	13	87				
MUC2	4583	broad.mit.edu	37	11	1075719	1075719	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:1075719G>A	ENST00000441003.2	+	2	172	c.145G>A	c.(145-147)Gac>Aac	p.D49N	MUC2_ENST00000359061.5_Missense_Mutation_p.D49N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	49	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGACCTTCGACGGGGACGT	0.622																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(145-147)Gac>Aac		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						30.0	35.0	34.0					11																	1075719		2127	4236	6363	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1075719G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.145G>A	11.37:g.1075719G>A	ENSP00000415183:p.Asp49Asn					MUC2_ENST00000359061.5_Missense_Mutation_p.D49N	p.D49N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	172	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	49			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.145G>A		.	.	.	.	.	.	.	.	.	.	G	16.11	3.030995	0.54790	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.77098	-1.07;-1.07	4.09	3.17	0.36434	.	0.172961	0.34725	N	0.003738	D	0.87038	0.6078	M	0.83483	2.645	0.42471	D	0.992827	D	0.89917	1.0	D	0.97110	1.0	D	0.86253	0.1650	10	0.42905	T	0.14	.	11.6233	0.51130	0.0888:0.0:0.9112:0.0	.	49	E7EUV1	.	N	49	ENSP00000415183:D49N;ENSP00000351956:D49N	ENSP00000351956:D49N	D	+	1	0	MUC2	1065719	1.000000	0.71417	0.756000	0.31282	0.590000	0.36582	9.758000	0.98927	0.715000	0.32103	0.561000	0.74099	GAC		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	38	0	0	0	0.003080	0	7	38				
ARID1A	8289	broad.mit.edu	37	1	27059237	27059237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:27059237delA	ENST00000324856.7	+	4	2245	c.1874delA	c.(1873-1875)caafs	p.Q625fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q625fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q242fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	625					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGGGAGGGCAAGAAGATATG	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1873-1875)cafs		AT rich interactive domain 1A (SWI-like)							137.0	126.0	130.0					1																	27059237		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059237delA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1874delA	1.37:g.27059237delA	ENSP00000320485:p.Gln625fs					ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q242fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q625fs	p.Q625fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2245	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	625					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1874delA	CCDS285.1																																																																																				0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		19	90						19	90	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589217	67589222	+	In_Frame_Del	DEL	TTGAAT	TTGAAT	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:67589217_67589222delTTGAAT	ENST00000521381.1	+	10	1821_1826	c.1205_1210delTTGAAT	c.(1204-1212)gttgaatta>gta	p.EL403del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.EL133del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EL403del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EL103del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EL403del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EL403del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EL40del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	403	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGTTCTGTGGTTGAATTAATAAACCA	0.335			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1204-1212)gta>g		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589217_67589222delTTGAAT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1205_1210delTTGAAT	5.37:g.67589217_67589222delTTGAAT	ENSP00000428056:p.Glu403_Leu404del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000396611.1_In_Frame_Del_p.VEL402del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.VEL402del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.VEL39del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.VEL132del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.VEL102del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.VEL402del	p.VEL402del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1821_1826	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	402			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1205_1210delTTGAAT	CCDS3993.1																																																																																				0.335	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		24	43						24	43	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				RP3-399L15.3_ENST00000521888.1_RNA|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000519108.1_5'Flank|HDAC2_ENST00000368632.2_5'UTR			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						ENST00000398283.2																			1	Substitution - Missense(1)	p.S81R(1)	prostate(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(241-246)agg>ag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292110_114292112delCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG						HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA	p.SR81del	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	247_249	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	ENST00000519065.1	37	c.243_245delCAG	CCDS43493.2																																																																																				0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			3	4						3	4	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141|rs71539975		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGTCATGTAAGTTTTTTTTTTT	0.401																																						ENST00000486256.1																			0																																																			0							g.chr7:6775132_6775133insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6775143_6775143dupT								NR_002217.1						0	833	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.401	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		2	4						2	4	---	---	---	---
AP001604.3	0	broad.mit.edu	37	21	28797435	28797435	+	lincRNA	DEL	C	C	-	rs77019154	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr21:28797435delC	ENST00000420186.2	-	0	202																											ttccttccttcctttcttcct	0.393													|||unknown(STR3?)	529	0.105631	0.0091	0.1037	5008	,	,		13283	0.2192		0.0974	False		,,,				2504	0.1288					ENST00000420186.2																			0																																																			0							g.chr21:28797435delC																													21.37:g.28797435delC														0	202	-									RNA	DEL	ENST00000420186.2	37																																																																																						0.393	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171665.2			2	4						2	4	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GTGT	rs61433517|rs71322752		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:25855682_25855683insGTGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																						ENST00000354451.2																			0																																																			0							g.chr22:25855682_25855683insGTGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855687_25855690dupGTGT														0	366	+									RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			3	3						3	3	---	---	---	---
