#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
FAM65C	140876	broad.mit.edu	37	20	49224997	49224997	+	Silent	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr20:49224997C>T	ENST00000327979.2	-	11	1284	c.873G>A	c.(871-873)acG>acA	p.T291T	FAM65C_ENST00000045083.2_Silent_p.T291T|FAM65C_ENST00000535356.1_Silent_p.T295T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	291										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCGGCCGCGTCGTGAAGA	0.662																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-873)acG>acA		family with sequence similarity 65, member C							99.0	87.0	91.0					20																	49224997		2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49224997C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.873G>A	20.37:g.49224997C>T						FAM65C_ENST00000535356.1_Silent_p.T295T|FAM65C_ENST00000045083.2_Silent_p.T291T	p.T291T			Q96MK2	FA65C_HUMAN			11	1284	-			291					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.873G>A	CCDS13431.2																																																																																				0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			64	92	0	0	0	1	0	64	92				
R3HDM1	23518	broad.mit.edu	37	2	136467732	136467732	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:136467732C>G	ENST00000264160.4	+	22	2932	c.2562C>G	c.(2560-2562)aaC>aaG	p.N854K	R3HDM1_ENST00000409478.1_Missense_Mutation_p.N726K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N725K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N799K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N855K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	854							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAACAAAACAAATATTACT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2560-2562)aaC>aaG		R3H domain containing 1							128.0	117.0	121.0					2																	136467732		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467732C>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2562C>G	2.37:g.136467732C>G	ENSP00000264160:p.Asn854Lys		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_ENST00000409478.1_Missense_Mutation_p.N726K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N725K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N799K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N855K	p.N854K	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2932	+			854					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2562C>G	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.77|12.77|12.77	2.038939|2.038939|2.038939	0.35989|0.35989|0.35989	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703|ENST00000445855	T;T;T;T;T|.|.	0.30714|.|.	1.56;1.52;1.56;1.55;1.53|.|.	5.49|5.49|5.49	0.584|0.584|0.584	0.17422|0.17422|0.17422	.|.|.	0.330928|.|.	0.35040|.|.	N|.|.	0.003495|.|.	T|T|T	0.41581|0.41581|0.41581	0.1165|0.1165|0.1165	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.25119|0.25119|0.25119	N|N|N	0.99065|0.99065|0.99065	D;P;P;P|.|.	0.69078|.|.	0.997;0.682;0.791;0.791|.|.	P;B;B;B|.|.	0.61397|.|.	0.888;0.151;0.343;0.343|.|.	T|T|T	0.34229|0.34229|0.34229	-0.9837|-0.9837|-0.9837	10|5|5	0.22109|.|.	T|.|.	0.4|.|.	-4.2823|-4.2823|-4.2823	8.1846|8.1846|8.1846	0.31330|0.31330|0.31330	0.0:0.4223:0.0:0.5777|0.0:0.4223:0.0:0.5777|0.0:0.4223:0.0:0.5777	.|.|.	726;855;799;854|.|.	G5E9G8;E9PBB4;E9PG42;Q15032|.|.	.;.;.;R3HD1_HUMAN|.|.	K|E|R	726;854;725;799;855|578|150	ENSP00000386457:N726K;ENSP00000264160:N854K;ENSP00000331396:N725K;ENSP00000386877:N799K;ENSP00000387010:N855K|.|.	ENSP00000264160:N854K|.|.	N|Q|T	+|+|+	3|1|2	2|0|0	R3HDM1|R3HDM1|R3HDM1	136184202|136184202|136184202	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	0.191000|0.191000|0.191000	0.17076|0.17076|0.17076	0.291000|0.291000|0.291000	0.22468|0.22468|0.22468	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	AAC|CAA|ACA		0.453	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		15	79	0	0	0	1	0	15	79				
ZMYM3	9203	broad.mit.edu	37	X	70463798	70463798	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70463798C>T	ENST00000353904.2	-	21	3500	c.3313G>A	c.(3313-3315)Gcc>Acc	p.A1105T	ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.A1093T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107T|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTGAGCAGGCGAGAATATCC	0.458																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3277-3279)Gcc>Acc		zinc finger, MYM-type 3							164.0	112.0	129.0					X																	70463798		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463798C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3313G>A	X.37:g.70463798C>T	ENSP00000343909:p.Ala1105Thr					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100T	p.A1093T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			21	3974	-	Renal(35;0.156)		1105					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3277G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.165848	0.78339	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.44482	1.51;0.92;1.51;1.51;1.52	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.39410	0.1077	N	0.22421	0.69	0.36742	D	0.882266	P;P	0.51240	0.943;0.905	P;B	0.48166	0.569;0.365	T	0.46233	-0.9206	10	0.42905	T	0.14	-12.5039	17.5932	0.88003	0.0:1.0:0.0:0.0	.	1093;1105	Q14202-2;Q14202	.;ZMYM3_HUMAN	T	1105;1093;1105;1100;1107	ENSP00000322845:A1105T;ENSP00000363110:A1093T;ENSP00000343909:A1105T;ENSP00000363096:A1100T;ENSP00000363100:A1107T	ENSP00000322845:A1105T	A	-	1	0	ZMYM3	70380523	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.568000	0.45965	2.339000	0.79563	0.529000	0.55759	GCC		0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		32	36	0	0	0	1	0	32	36				
GLIS2	84662	broad.mit.edu	37	16	4385109	4385109	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr16:4385109G>C	ENST00000262366.3	+	6	1392	c.571G>C	c.(571-573)Gat>Cat	p.D191H	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.D191H|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	191					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCATGTCAACGATTACCATGT	0.617																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(571-573)Gat>Cat		GLIS family zinc finger 2							73.0	79.0	77.0					16																	4385109		2197	4300	6497	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4385109G>C	AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.571G>C	16.37:g.4385109G>C	ENSP00000262366:p.Asp191His					PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.D191H	p.D191H			Q9BZE0	GLIS2_HUMAN			6	1392	+			191					B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.571G>C	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935075	0.92458	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	D;D	0.91237	-2.81;-2.81	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.115605	0.56097	D	0.000026	D	0.87481	0.6188	L	0.45422	1.42	0.80722	D	1	P	0.36330	0.548	B	0.32583	0.148	D	0.87960	0.2729	10	0.62326	D	0.03	.	18.2987	0.90155	0.0:0.0:1.0:0.0	.	191	Q9BZE0	GLIS2_HUMAN	H	191	ENSP00000262366:D191H;ENSP00000395547:D191H	ENSP00000262366:D191H	D	+	1	0	GLIS2	4325110	1.000000	0.71417	0.978000	0.43139	0.916000	0.54674	7.795000	0.85887	2.615000	0.88500	0.555000	0.69702	GAT		0.617	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		46	73	0	0	0	1	0	46	73				
OR2D2	120776	broad.mit.edu	37	11	6912815	6912815	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr11:6912815T>C	ENST00000299459.2	-	1	1015	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	306					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCATGGGAAATTCCTTGTGGC	0.458																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(916-918)aAt>aGt		olfactory receptor, family 2, subfamily D, member 2							70.0	62.0	64.0					11																	6912815		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6912815T>C	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.917A>G	11.37:g.6912815T>C	ENSP00000299459:p.Asn306Ser						p.N306S	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1015	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	306					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.917A>G	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	t	0.010	-1.770382	0.00645	.	.	ENSG00000166368	ENST00000299459	T	0.10099	2.91	4.98	3.85	0.44370	.	0.367469	0.23404	N	0.048548	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	10	0.10636	T	0.68	-23.414	9.3288	0.38010	0.0:0.0857:0.0:0.9143	.	306	Q9H210	OR2D2_HUMAN	S	306	ENSP00000299459:N306S	ENSP00000299459:N306S	N	-	2	0	OR2D2	6869391	0.000000	0.05858	0.006000	0.13384	0.247000	0.25773	-0.097000	0.11042	1.029000	0.39812	-0.289000	0.09944	AAT		0.458	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		11	42	0	0	0	1	0	11	42				
DOCK6	57572	broad.mit.edu	37	19	11348871	11348871	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:11348871C>T	ENST00000294618.7	-	15	1764	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	DOCK6_ENST00000319867.7_5'Flank|C19orf80_ENST00000591200.1_Intron|C19orf80_ENST00000252453.8_5'Flank	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	585	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACCGGCAGAGCCTGGCTGGGG	0.637																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(1753-1755)Gct>Act		dedicator of cytokinesis 6							56.0	62.0	60.0					19																	11348871		2045	4191	6236	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11348871C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1753G>A	19.37:g.11348871C>T	ENSP00000294618:p.Ala585Thr					C19orf80_ENST00000591200.1_Intron	p.A585T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			15	1764	-			585			DHR-1.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.1753G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145831	0.94603	.	.	ENSG00000130158	ENST00000294618	T	0.14516	2.5	4.8	4.8	0.61643	.	0.000000	0.35096	U	0.003446	T	0.26666	0.0652	M	0.78637	2.42	0.80722	D	1	B	0.33583	0.418	B	0.40329	0.326	T	0.08638	-1.0712	10	0.72032	D	0.01	.	16.638	0.85064	0.0:1.0:0.0:0.0	.	585	Q96HP0	DOCK6_HUMAN	T	585	ENSP00000294618:A585T	ENSP00000294618:A585T	A	-	1	0	DOCK6	11209871	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.436000	0.66538	2.211000	0.71520	0.591000	0.81541	GCT		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		6	105	0	0	0	1	0	6	105				
RPS6KA2	6196	broad.mit.edu	37	6	167040506	167040506	+	Start_Codon_SNP	SNP	A	A	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:167040506A>T	ENST00000265678.4	-	1	225	c.2T>A	c.(1-3)aTg>aAg	p.M1K	RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000503859.1_Intron	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	1					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCTCAGGTCCATCGCCCCGCG	0.716																																						ENST00000265678.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1-3)aTg>aAg		ribosomal protein S6 kinase, 90kDa, polypeptide 2							11.0	10.0	10.0					6																	167040506		2181	4267	6448	SO:0001582	initiator_codon_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:167040506A>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2T>A	6.37:g.167040506A>T	ENSP00000265678:p.Met1Lys					RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000510118.1_Intron	p.M1K	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	1	225	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	1					B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Translation_Start_Site	SNP	ENST00000265678.4	37	c.2T>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	a	17.91	3.505558	0.64410	.	.	ENSG00000071242	ENST00000265678	T	0.69040	-0.37	4.38	4.38	0.52667	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.80722	D	1	B	0.21147	0.052	B	0.34489	0.184	T	0.60811	-0.7189	8	0.87932	D	0	.	11.3437	0.49548	1.0:0.0:0.0:0.0	.	1	Q15349	KS6A2_HUMAN	K	1	ENSP00000265678:M1K	ENSP00000265678:M1K	M	-	2	0	RPS6KA2	166960496	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.643000	0.67895	1.606000	0.50161	0.255000	0.18592	ATG		0.716	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	Missense_Mutation	4	8	0	0	0	1	0	4	8				
IPO4	79711	broad.mit.edu	37	14	24648076	24648076	+	IGR	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr14:24648076C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.A385V|REC8_ENST00000559919.1_Missense_Mutation_p.A385V	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GAGGAGGCAGCCGCTGAGGAG	0.587																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1153-1155)gCc>gTc		REC8 meiotic recombination protein							134.0	150.0	145.0					14																	24648076		1958	4135	6093	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648076C>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648076C>T						REC8_ENST00000559919.1_Missense_Mutation_p.A385V	p.A385V			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	15	1753	+			386			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1154C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294848	0.23564	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.24538	1.85	3.61	-0.767	0.11016	.	0.753768	0.12473	N	0.465835	T	0.18299	0.0439	N	0.14661	0.345	0.09310	N	1	D;B	0.61697	0.99;0.0	P;B	0.54889	0.763;0.001	T	0.12041	-1.0563	10	0.30854	T	0.27	-0.2042	3.0617	0.06201	0.3633:0.4135:0.0:0.2232	.	369;386	O95072-2;O95072	.;REC8_HUMAN	V	385;368	ENSP00000308699:A385V	ENSP00000308699:A385V	A	+	2	0	REC8	23717916	0.573000	0.26676	0.001000	0.08648	0.192000	0.23643	0.919000	0.28692	-0.065000	0.13021	0.375000	0.23000	GCC		0.587	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		5	424	0	0	0	1	0	5	424				
PLB1	151056	broad.mit.edu	37	2	28772947	28772947	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:28772947T>C	ENST00000327757.5	+	16	1123	c.1079T>C	c.(1078-1080)cTt>cCt	p.L360P	PLB1_ENST00000422425.2_Missense_Mutation_p.L371P|PLB1_ENST00000329020.6_Missense_Mutation_p.L48P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	360	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAGACAAGCTTGAGGTAAGG	0.453																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1111-1113)cTt>cCt		phospholipase B1							80.0	71.0	74.0					2																	28772947		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28772947T>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1079T>C	2.37:g.28772947T>C	ENSP00000330442:p.Leu360Pro					PLB1_ENST00000329020.6_Missense_Mutation_p.L48P|PLB1_ENST00000327757.5_Missense_Mutation_p.L360P	p.L371P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			16	1156	+	Acute lymphoblastic leukemia(172;0.155)		360			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1112T>C	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	T	6.315	0.426181	0.11987	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.14391	2.54;2.51;2.59;2.6	4.55	-7.75	0.01236	.	1.903720	0.02042	N	0.049353	T	0.07503	0.0189	N	0.20685	0.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.27054	-1.0085	10	0.30078	T	0.28	1.5122	5.7719	0.18257	0.261:0.4653:0.0:0.2737	.	371;48;360	Q6P1J6-3;Q6P1J6-2;Q6P1J6	.;.;PLB1_HUMAN	P	360;371;70;48	ENSP00000330442:L360P;ENSP00000416440:L371P;ENSP00000392493:L70P;ENSP00000330729:L48P	ENSP00000330442:L360P	L	+	2	0	PLB1	28626451	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.104000	0.00603	-1.130000	0.02914	-1.363000	0.01210	CTT		0.453	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			9	15	0	0	0	1	0	9	15				
RC3H1	149041	broad.mit.edu	37	1	173930321	173930321	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:173930321T>A	ENST00000367696.2	-	13	2615	c.2264A>T	c.(2263-2265)cAt>cTt	p.H755L	RC3H1_ENST00000367694.2_Missense_Mutation_p.H755L|RC3H1_ENST00000258349.4_Missense_Mutation_p.H755L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	755	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCGTCGGCGATGTAGTTCATC	0.448																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(2263-2265)cAt>cTt		ring finger and CCCH-type domains 1							174.0	167.0	169.0					1																	173930321		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173930321T>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2264A>T	1.37:g.173930321T>A	ENSP00000356669:p.His755Leu					RC3H1_ENST00000258349.4_Missense_Mutation_p.H755L|RC3H1_ENST00000367694.2_Missense_Mutation_p.H755L	p.H755L			Q5TC82	RC3H1_HUMAN			13	2615	-			755			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.2264A>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318583	0.40996	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.41758	1.0;1.0;0.99	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.80764	0.986;0.986;0.994;0.986	T	0.38887	-0.9640	10	0.10902	T	0.67	-21.5742	16.0957	0.81123	0.0:0.0:0.0:1.0	.	755;755;755;755	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	L	755	ENSP00000356669:H755L;ENSP00000258349:H755L;ENSP00000356667:H755L	ENSP00000258349:H755L	H	-	2	0	RC3H1	172196944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.199000	0.70637	0.533000	0.62120	CAT		0.448	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		6	140	0	0	0	1	0	6	140				
SCARA5	286133	broad.mit.edu	37	8	27779274	27779274	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr8:27779274G>A	ENST00000354914.3	-	4	1215	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	SCARA5_ENST00000524352.1_Missense_Mutation_p.R244W|SCARA5_ENST00000518030.1_Missense_Mutation_p.R201W|SCARA5_ENST00000301906.4_Missense_Mutation_p.R201W|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	244					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCCTGCAGCCGCGTGCGGTGG	0.721																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(730-732)Cgg>Tgg		scavenger receptor class A, member 5 (putative)							16.0	16.0	16.0					8																	27779274		2185	4258	6443	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27779274G>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.730C>T	8.37:g.27779274G>A	ENSP00000346990:p.Arg244Trp					SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Missense_Mutation_p.R201W|SCARA5_ENST00000518030.1_Missense_Mutation_p.R201W|SCARA5_ENST00000524352.1_Missense_Mutation_p.R244W	p.R244W	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	4	1215	-		Ovarian(32;0.0218)	244					Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.730C>T	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060304	0.19987	.	.	ENSG00000168079	ENST00000354914;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D	0.91237	-2.43;-2.81;-2.71;-2.71	4.9	4.01	0.46588	.	0.391638	0.26032	N	0.026750	D	0.82692	0.5092	L	0.29908	0.895	0.28461	N	0.915894	B;B;B	0.15930	0.007;0.015;0.01	B;B;B	0.12837	0.008;0.005;0.003	T	0.74084	-0.3779	10	0.54805	T	0.06	.	5.6945	0.17847	0.1035:0.0:0.7032:0.1933	.	244;201;244	Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;SCAR5_HUMAN	W	244;244;201;201	ENSP00000346990:R244W;ENSP00000428663:R244W;ENSP00000430713:R201W;ENSP00000301906:R201W	ENSP00000301906:R201W	R	-	1	2	SCARA5	27835193	0.994000	0.37717	0.998000	0.56505	0.800000	0.45204	3.680000	0.54641	1.038000	0.40049	0.449000	0.29647	CGG		0.721	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		3	12	0	0	0	1	0	3	12				
KIF25	3834	broad.mit.edu	37	6	168430294	168430294	+	Missense_Mutation	SNP	G	G	A	rs150821798	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:168430294G>A	ENST00000443060.2	+	3	420	c.29G>A	c.(28-30)cGt>cAt	p.R10H	KIF25_ENST00000351261.3_Missense_Mutation_p.R10H|KIF25_ENST00000354419.2_Missense_Mutation_p.R10H			Q9UIL4	KIF25_HUMAN	kinesin family member 25	10	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCTTCAGCGTGAGAAGCAG	0.632																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(28-30)cGt>cAt		kinesin family member 25		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	98.0	99.0		29,29	-0.6	0.0	6	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIF25	NM_005355.3,NM_030615.2	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	10/333,10/385	168430294	2,13004	2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430294G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.29G>A	6.37:g.168430294G>A	ENSP00000388878:p.Arg10His					KIF25_ENST00000354419.2_Missense_Mutation_p.R10H|KIF25_ENST00000351261.3_Missense_Mutation_p.R10H	p.R10H			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	420	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	10			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.29G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.333376	0.01298	2.27E-4	1.16E-4	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.74002	-0.8;-0.8;-0.01	0.658	-0.592	0.11671	Kinesin, motor domain (1);	10.352100	0.01222	N	0.008123	T	0.30665	0.0772	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.03483	-1.1032	8	.	.	.	.	.	.	.	.	10;10	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	H	10	ENSP00000388878:R10H;ENSP00000346401:R10H;ENSP00000252688:R10H	.	R	+	2	0	KIF25	168173143	0.005000	0.15991	0.000000	0.03702	0.005000	0.04900	-1.074000	0.03427	-1.024000	0.03338	-1.021000	0.02439	CGT		0.632	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			32	90	0	0	0	1	0	32	90				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	33	0	0	0	1	0	29	33				
TTBK2	146057	broad.mit.edu	37	15	43102841	43102841	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr15:43102841A>C	ENST00000267890.6	-	9	901	c.793T>G	c.(793-795)Ttg>Gtg	p.L265V	TTBK2_ENST00000567274.1_Missense_Mutation_p.L230V|TTBK2_ENST00000567840.1_Missense_Mutation_p.L265V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAATAATCCAAAGAAGAGATA	0.398																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(793-795)Ttg>Gtg		tau tubulin kinase 2							108.0	103.0	105.0					15																	43102841		1854	4089	5943	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43102841A>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.793T>G	15.37:g.43102841A>C	ENSP00000267890:p.Leu265Val					TTBK2_ENST00000567840.1_Missense_Mutation_p.L265V|TTBK2_ENST00000567274.1_Missense_Mutation_p.L230V	p.L265V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	9	901	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	265			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.793T>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684463	0.68157	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.22336	1.96	5.85	3.43	0.39272	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000007	T	0.52581	0.1743	H	0.95365	3.66	0.48135	D	0.999598	D;D;D;D	0.76494	0.999;0.994;0.993;0.989	D;D;P;D	0.76575	0.988;0.962;0.88;0.967	T	0.57493	-0.7802	10	0.87932	D	0	.	6.2946	0.21079	0.7244:0.1355:0.1401:0.0	.	245;196;265;265	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	V	265;195;245	ENSP00000267890:L265V	ENSP00000263802:L245V	L	-	1	2	TTBK2	40890133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.107000	0.41844	1.046000	0.40249	0.533000	0.62120	TTG		0.398	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		26	44	0	0	0	1	0	26	44				
GALM	130589	broad.mit.edu	37	2	38903112	38903112	+	Silent	SNP	C	C	T	rs397872216		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:38903112C>T	ENST00000272252.5	+	2	501	c.249C>T	c.(247-249)atC>atT	p.I83I	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	83					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCAACCGAATCGCCAAAGGAA	0.473																																						ENST00000272252.5																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(247-249)atC>atT		galactose mutarotase (aldose 1-epimerase)							158.0	130.0	140.0					2																	38903112		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38903112C>T		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.249C>T	2.37:g.38903112C>T						GALM_ENST00000410063.1_Intron	p.I83I	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN			2	501	+		all_hematologic(82;0.248)	83					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.249C>T	CCDS1797.1																																																																																				0.473	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		5	105	0	0	0	1	0	5	105				
CRYAA	1409	broad.mit.edu	37	21	44592355	44592355	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr21:44592355C>T	ENST00000291554.2	+	3	579	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CRYAA_ENST00000398133.1_Missense_Mutation_p.R143W|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_Missense_Mutation_p.R126W	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	163					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCCCGTGTCGCGGGAGGAGAA	0.677																																						ENST00000291554.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(487-489)Cgg>Tgg		crystallin, alpha A							58.0	46.0	50.0					21																	44592355		2202	4299	6501	SO:0001583	missense	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44592355C>T		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.487C>T	21.37:g.44592355C>T	ENSP00000291554:p.Arg163Trp					CRYAA_ENST00000398133.1_Missense_Mutation_p.R143W|CRYAA_ENST00000398132.1_Missense_Mutation_p.R126W|CRYAA_ENST00000482775.1_3'UTR	p.R163W	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN			3	579	+			163					Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	c.487C>T	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361299	0.61403	.	.	ENSG00000160202	ENST00000291554;ENST00000398133;ENST00000398132	D;D;D	0.93604	-2.98;-3.25;-3.24	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.75085	2.285	0.58432	D	0.999999	D	0.67145	0.996	P	0.49561	0.615	D	0.93703	0.7017	10	0.87932	D	0	-22.7945	11.042	0.47835	0.1861:0.8139:0.0:0.0	.	163	P02489	CRYAA_HUMAN	W	163;143;126	ENSP00000291554:R163W;ENSP00000381201:R143W;ENSP00000381200:R126W	ENSP00000291554:R163W	R	+	1	2	CRYAA	43465424	1.000000	0.71417	0.975000	0.42487	0.488000	0.33401	4.160000	0.58164	1.684000	0.51022	0.298000	0.19748	CGG		0.677	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			34	37	0	0	0	1	0	34	37				
ZBTB20	26137	broad.mit.edu	37	3	114070289	114070289	+	Silent	SNP	C	C	T	rs143932166	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr3:114070289C>T	ENST00000474710.1	-	4	814	c.636G>A	c.(634-636)ccG>ccA	p.P212P	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.P139P|ZBTB20_ENST00000462705.1_Silent_p.P139P|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.P139P|ZBTB20_ENST00000357258.3_Silent_p.P139P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.P139P|ZBTB20_ENST00000464560.1_Silent_p.P139P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	212						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCCCGCGGCGTGTCCT	0.642																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(415-417)ccG>ccA		zinc finger and BTB domain containing 20							66.0	60.0	62.0					3																	114070289		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070289C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.636G>A	3.37:g.114070289C>T						ZBTB20_ENST00000357258.3_Silent_p.P139P|ZBTB20_ENST00000393785.2_Silent_p.P139P|ZBTB20_ENST00000481632.1_Silent_p.P139P|ZBTB20_ENST00000464560.1_Silent_p.P139P|ZBTB20_ENST00000471418.1_Silent_p.P139P|ZBTB20_ENST00000474710.1_Silent_p.P212P	p.P139P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1238	-			212			BTB.		Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.417G>A	CCDS54626.1																																																																																				0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	97	0	0	0	1	0	4	97				
PPOX	5498	broad.mit.edu	37	1	161139471	161139471	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:161139471C>G	ENST00000367999.4	+	8	1095	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.L277V|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	277					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGACAGCAGTCTGGAGGCTGA	0.473																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(829-831)Ctg>Gtg		protoporphyrinogen oxidase							138.0	123.0	128.0					1																	161139471		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161139471C>G	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.829C>G	1.37:g.161139471C>G	ENSP00000356978:p.Leu277Val					PPOX_ENST00000352210.5_Missense_Mutation_p.L277V|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.L277V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	1095	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		277					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.829C>G	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333293	0.41297	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92149	-2.98;-2.98	5.85	3.99	0.46301	Amine oxidase (1);	0.398479	0.26000	N	0.026942	T	0.79879	0.4522	L	0.41079	1.255	0.80722	D	1	P;B;B	0.42123	0.771;0.287;0.338	B;B;B	0.44224	0.444;0.132;0.121	T	0.75769	-0.3201	10	0.13853	T	0.58	-3.986	5.6404	0.17561	0.1574:0.6797:0.0:0.1629	.	244;115;277	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	V	277;277;244	ENSP00000343943:L277V;ENSP00000356978:L277V	ENSP00000343943:L277V	L	+	1	2	PPOX	159406095	0.970000	0.33590	1.000000	0.80357	0.995000	0.86356	0.287000	0.18920	0.805000	0.34159	0.650000	0.86243	CTG		0.473	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		9	109	0	0	0	1	0	9	109				
GTF2H4	2968	broad.mit.edu	37	6	30879464	30879464	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:30879464T>C	ENST00000259895.4	+	9	968	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	GTF2H4_ENST00000376316.2_Missense_Mutation_p.Y249H|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|GTF2H4_ENST00000539324.1_Missense_Mutation_p.Y193H|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000541562.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	249					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCTCAGGATTACTCTGTGGA	0.478								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(745-747)Tac>Cac	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							97.0	91.0	94.0					6																	30879464		1511	2709	4220	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30879464T>C	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.745T>C	6.37:g.30879464T>C	ENSP00000259895:p.Tyr249His					GTF2H4_ENST00000376316.2_Missense_Mutation_p.Y249H|GTF2H4_ENST00000539324.1_Missense_Mutation_p.Y193H	p.Y249H	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			9	968	+			249					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.745T>C	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167792	0.78339	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.69306	-0.39;-0.39;-0.39	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000002	D	0.83142	0.5190	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87342	0.2332	10	0.62326	D	0.03	-17.1309	13.6872	0.62524	0.0:0.0:0.0:1.0	.	255;193;249;249	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	H	249;193;249	ENSP00000259895:Y249H;ENSP00000442700:Y193H;ENSP00000365493:Y249H	ENSP00000259895:Y249H	Y	+	1	0	GTF2H4	30987443	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.389000	0.79806	2.106000	0.64143	0.533000	0.62120	TAC		0.478	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		37	51	0	0	0	1	0	37	51				
TNF	7124	broad.mit.edu	37	6	31545282	31545282	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:31545282G>A	ENST00000449264.2	+	4	845	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	224					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TGCCGAGTCTGGGCAGGTCTA	0.567									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000449264.2																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(670-672)Ggg>Agg		tumor necrosis factor	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						64.0	63.0	63.0					6																	31545282		1509	2709	4218	SO:0001583	missense	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31545282G>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.670G>A	6.37:g.31545282G>A	ENSP00000398698:p.Gly224Arg						p.G224R	NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN			4	845	+		Ovarian(999;0.00556)	224					O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	c.670G>A	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158431	0.78114	.	.	ENSG00000232810	ENST00000449264	T	0.48836	0.8	5.4	5.4	0.78164	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.069357	0.56097	D	0.000025	T	0.70159	0.3192	H	0.94886	3.595	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.77950	-0.2395	10	0.87932	D	0	.	10.1635	0.42866	0.0905:0.0:0.9095:0.0	.	224	P01375	TNFA_HUMAN	R	224	ENSP00000398698:G224R	ENSP00000398698:G224R	G	+	1	0	TNF	31653261	1.000000	0.71417	0.986000	0.45419	0.846000	0.48090	5.459000	0.66685	2.537000	0.85549	0.561000	0.74099	GGG		0.567	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			24	37	0	0	0	1	0	24	37				
PLEKHG6	55200	broad.mit.edu	37	12	6424735	6424735	+	Missense_Mutation	SNP	C	C	T	rs199975133		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:6424735C>T	ENST00000396988.3	+	5	705	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L127F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L159F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L159F	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCAGGAGCTCTGCCACCA	0.557																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(379-381)Ctc>Ttc		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							43.0	45.0	44.0					12																	6424735		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6424735C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.475C>T	12.37:g.6424735C>T	ENSP00000380185:p.Leu159Phe					PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L159F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L159F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L159F	p.L127F	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			4	873	+			159					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.379C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	2.979	-0.210747	0.06140	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.78	1.51	0.23008	Dbl homology (DH) domain (2);	0.453160	0.20455	N	0.092008	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.18461	0.016;0.016;0.028	B;B;B	0.17433	0.018;0.018;0.018	T	0.13548	-1.0505	10	0.09590	T	0.72	-17.5483	3.5186	0.07734	0.0:0.5397:0.2137:0.2466	.	127;159;159	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	F	159;159;159;127	ENSP00000011684:L159F;ENSP00000442836:L159F;ENSP00000380185:L159F;ENSP00000393194:L127F	ENSP00000011684:L159F	L	+	1	0	PLEKHG6	6294996	0.734000	0.28142	0.068000	0.19968	0.981000	0.71138	0.555000	0.23422	0.529000	0.28599	0.561000	0.74099	CTC		0.557	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		13	48	0	0	0	1	0	13	48				
CLEC4D	338339	broad.mit.edu	37	12	8673735	8673735	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:8673735T>G	ENST00000299665.2	+	6	709	c.516T>G	c.(514-516)aaT>aaG	p.N172K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	172	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCATAAGAATGAACCCGACA	0.333																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(514-516)aaT>aaG		C-type lectin domain family 4, member D							124.0	119.0	120.0					12																	8673735		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673735T>G	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.516T>G	12.37:g.8673735T>G	ENSP00000299665:p.Asn172Lys						p.N172K	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			6	709	+	Lung SC(5;0.184)		172			C-type lectin.		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.516T>G	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	T	6.862	0.528451	0.13127	.	.	ENSG00000166527	ENST00000299665	T	0.17370	2.28	4.0	1.57	0.23409	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.18299	0.0439	M	0.64404	1.975	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.27123	-1.0083	9	0.62326	D	0.03	.	5.8118	0.18469	0.0:0.1007:0.1744:0.7249	.	172	Q8WXI8	CLC4D_HUMAN	K	172	ENSP00000299665:N172K	ENSP00000299665:N172K	N	+	3	2	CLEC4D	8565002	0.005000	0.15991	0.013000	0.15412	0.001000	0.01503	-0.152000	0.10159	0.030000	0.15379	-1.171000	0.01739	AAT		0.333	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		24	29	0	0	0	1	0	24	29				
CNTNAP3	79937	broad.mit.edu	37	9	39086827	39086827	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr9:39086827G>C	ENST00000297668.6	-	20	3313	c.3240C>G	c.(3238-3240)taC>taG	p.Y1080*	CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.Y992*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.Y999*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1080	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATCTAGCTTGTACCTAATCT	0.313																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(3238-3240)taC>taG		contactin associated protein-like 3							3.0	3.0	3.0					9																	39086827		1662	3479	5141	SO:0001587	stop_gained	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39086827G>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3240C>G	9.37:g.39086827G>C	ENSP00000297668:p.Tyr1080*					CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.Y999*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.Y992*	p.Y1080*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	20	3313	-			1080			Laminin G-like 4.		B1AMA0|Q9C0E9	Nonsense_Mutation	SNP	ENST00000297668.6	37	c.3240C>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	38	7.116531	0.98074	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	.	.	.	2.73	-0.602	0.11634	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7754	0.34758	0.1887:0.0:0.8113:0.0	.	.	.	.	X	1080;999;992	.	ENSP00000297668:Y1080X	Y	-	3	2	CNTNAP3	39076827	1.000000	0.71417	0.875000	0.34327	0.787000	0.44495	1.694000	0.37752	-0.130000	0.11599	0.306000	0.20318	TAC		0.313	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		4	35	0	0	0	1	0	4	35				
PCDH7	5099	broad.mit.edu	37	4	31144302	31144302	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr4:31144302G>A	ENST00000543491.1	+	3	3599	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3598-3600)cGc>cAc		protocadherin 7							100.0	100.0	100.0					4																	31144302		1929	4136	6065	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144302G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3599G>A	4.37:g.31144302G>A	ENSP00000441802:p.Arg1200His						p.R1200H			O60245	PCDH7_HUMAN			3	3599	+			0					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3599G>A	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953780	0.53293	.	.	ENSG00000169851	ENST00000543491;ENST00000333135	T	0.51817	0.69	5.87	5.87	0.94306	.	.	.	.	.	T	0.64125	0.2570	L	0.44542	1.39	0.58432	D	0.999999	B;D	0.76494	0.084;0.999	B;D	0.80764	0.019;0.994	T	0.59354	-0.7470	9	0.46703	T	0.11	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1200;1145	F5GWJ1;O60245-3	.;.	H	1200;1145	ENSP00000441802:R1200H	ENSP00000330302:R1145H	R	+	2	0	PCDH7	30753400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.358000	0.73055	2.941000	0.99782	0.655000	0.94253	CGC		0.502	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		4	148	0	0	0	1	0	4	148				
ACACB	32	broad.mit.edu	37	12	109605743	109605743	+	Missense_Mutation	SNP	C	C	T	rs370590640		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:109605743C>T	ENST00000338432.7	+	4	948	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ACACB_ENST00000377848.3_Missense_Mutation_p.R277C|ACACB_ENST00000377854.5_Missense_Mutation_p.R277C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	277	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAAGTGCATGCGCTCCATCCG	0.592																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(829-831)Cgc>Tgc		acetyl-CoA carboxylase beta	Biotin(DB00121)	C	CYS/ARG	0,4406		0,0,2203	152.0	102.0	119.0		829	5.2	1.0	12		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	277/2459	109605743	1,13005	2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109605743C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.829C>T	12.37:g.109605743C>T	ENSP00000341044:p.Arg277Cys					ACACB_ENST00000377854.5_Missense_Mutation_p.R277C|ACACB_ENST00000377848.3_Missense_Mutation_p.R277C	p.R277C			O00763	ACACB_HUMAN			4	948	+			277			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.829C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296112	0.95574	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.74947	-0.89;-0.89;-0.89	5.16	5.16	0.70880	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.097634	0.64402	D	0.000001	D	0.92967	0.7762	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96366	0.9270	10	0.87932	D	0	.	18.2724	0.90072	0.0:1.0:0.0:0.0	.	277	O00763	ACACB_HUMAN	C	277	ENSP00000341044:R277C;ENSP00000367079:R277C;ENSP00000367085:R277C	ENSP00000341044:R277C	R	+	1	0	ACACB	108090126	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.052000	0.71080	2.400000	0.81607	0.563000	0.77884	CGC		0.592	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	95	0	0	0	1	0	4	95				
MED12	9968	broad.mit.edu	37	X	70346299	70346299	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70346299C>G	ENST00000374080.3	+	19	2682	c.2650C>G	c.(2650-2652)Ctc>Gtc	p.L884V	MED12_ENST00000374102.1_Missense_Mutation_p.L884V|MED12_ENST00000333646.6_Missense_Mutation_p.L884V|MED12_ENST00000462984.1_3'UTR			Q93074	MED12_HUMAN	mediator complex subunit 12	884					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATATTCACTCAGCATCAG	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(2650-2652)Ctc>Gtc		mediator complex subunit 12							166.0	154.0	158.0					X																	70346299		2121	4203	6324	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70346299C>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2650C>G	X.37:g.70346299C>G	ENSP00000363193:p.Leu884Val					MED12_ENST00000374080.3_Missense_Mutation_p.L884V|MED12_ENST00000374102.1_Missense_Mutation_p.L884V	p.L884V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			19	2849	+	Renal(35;0.156)		884					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2650C>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.209933	0.58343	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.68593	2.085	0.53688	D	0.999975	D;D;D;D	0.69078	0.997;0.99;0.995;0.995	D;P;D;D	0.77004	0.989;0.852;0.92;0.975	D	0.89196	0.3554	10	0.66056	D	0.02	-13.5825	10.7464	0.46183	0.0:0.9108:0.0:0.0892	.	884;731;884;884	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	884;884;884;884;852	ENSP00000333125:L884V;ENSP00000363215:L884V;ENSP00000363193:L884V;ENSP00000414203:L852V	ENSP00000333125:L884V	L	+	1	0	MED12	70263024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.338000	0.59316	2.217000	0.71921	0.529000	0.55759	CTC		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		42	127	0	0	0	1	0	42	127				
SLC35E4	339665	broad.mit.edu	37	22	31032741	31032741	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr22:31032741A>G	ENST00000343605.4	+	1	1103	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	SLC35E4_ENST00000406566.1_Missense_Mutation_p.M102V|SLC35E4_ENST00000300385.8_Missense_Mutation_p.M102V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	102						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACGGCGCCCCATGCCAGGCGG	0.687																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(304-306)Atg>Gtg		solute carrier family 35, member E4							38.0	26.0	30.0					22																	31032741		2202	4298	6500	SO:0001583	missense	339665					integral to membrane		g.chr22:31032741A>G		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.304A>G	22.37:g.31032741A>G	ENSP00000339626:p.Met102Val					SLC35E4_ENST00000406566.1_Missense_Mutation_p.M102V|SLC35E4_ENST00000300385.8_Missense_Mutation_p.M102V	p.M102V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	1103	+			102					Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.304A>G	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	A	1.429	-0.570647	0.03910	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.48	-4.8	0.03190	Drug/metabolite transporter (1);	0.390386	0.28706	N	0.014408	T	0.15955	0.0384	N	0.08118	0	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06679	-1.0813	10	0.22706	T	0.39	-4.3115	0.7367	0.00967	0.1598:0.2863:0.2001:0.3538	.	102;102	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	V	102;102;102;78	ENSP00000339626:M102V;ENSP00000300385:M102V;ENSP00000384377:M102V;ENSP00000413552:M78V	ENSP00000300385:M102V	M	+	1	0	SLC35E4	29362741	0.429000	0.25530	0.894000	0.35097	0.456000	0.32438	-0.113000	0.10774	-0.962000	0.03604	0.448000	0.29417	ATG		0.687	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		10	27	0	0	0	1	0	10	27				
SOX4	6659	broad.mit.edu	37	6	21595267	21595269	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:21595267_21595269delGGC	ENST00000244745.1	+	1	1296_1298	c.502_504delGGC	c.(502-504)ggcdel	p.G173del	SOX4_ENST00000543472.1_In_Frame_Del_p.G173del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	173					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cggccatgggggcggcggcggcg	0.739																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(502-504)del		SRY (sex determining region Y)-box 4				95,16,1665		33,0,29,3,10,813						-1.0	0.2			3	19,117,4484		6,1,6,22,72,2203	no	codingComplex	SOX4	NM_003107.2		39,1,35,25,82,3016	A1A1,A1A2,A1R,A2A2,A2R,RR		2.9437,6.25,3.8618				114,133,6149				SO:0001651	inframe_deletion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595267_21595269delGGC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.502_504delGGC	6.37:g.21595276_21595278delGGC	ENSP00000244745:p.Gly173del					SOX4_ENST00000543472.1_In_Frame_Del_p.G173del	p.G173del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1296_1298	+	Ovarian(93;0.163)		173						In_Frame_Del	DEL	ENST00000244745.1	37	c.502_504delGGC	CCDS4547.1																																																																																				0.739	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	9						4	9	---	---	---	---
CCNA1	8900	broad.mit.edu	37	13	37012005	37012006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr13:37012005_37012006insA	ENST00000255465.4	+	3	801_802	c.537_538insA	c.(538-540)aacfs	p.N180fs	CCNA1_ENST00000418263.1_Frame_Shift_Ins_p.N179fs|CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.N136fs|CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.N136fs			P78396	CCNA1_HUMAN	cyclin A1	180					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCTGGATTTCAACACAGGTAA	0.47																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(532-537)ttacacfs		cyclin A1																																				SO:0001589	frameshift_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012005_37012006insA	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.539dupA	13.37:g.37012007_37012007dupA	ENSP00000255465:p.Asn180fs					CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.H136fs|CCNA1_ENST00000255465.4_Frame_Shift_Ins_p.H180fs|CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.H136fs	p.H179fs	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	884_885	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	180					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Frame_Shift_Ins	INS	ENST00000255465.4	37	c.534_535insA	CCDS9357.1																																																																																				0.470	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		42	84						42	84	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	2						3	2	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183627	+	RNA	DEL	TTT	TTT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr16:81183625_81183627delTTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACttttttttttttt	0.468																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183627delTTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183634_81183636delTTT						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2609	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.468	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			3	3						3	3	---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr17:40345560_40345562delGCA	ENST00000301671.8	-	2	479_481	c.38_40delTGC	c.(37-42)ctgcca>cca	p.L13del	GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000428494.2_In_Frame_Del_p.L13del|GHDC_ENST00000587427.1_In_Frame_Del_p.L13del|GHDC_ENST00000436923.2_In_Frame_Del_p.L13del|GHDC_ENST00000593209.1_In_Frame_Del_p.L13del|GHDC_ENST00000414034.3_In_Frame_Del_p.L13del			Q8N2G8	GHDC_HUMAN	GH3 domain containing	13						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(37-42)cca>c		GH3 domain containing			,,	153,2,2875		20,0,113,1,0,1381					,,	-3.0	0.0			4	312,7,5755		37,0,238,1,5,2756	no	codingComplex,codingComplex,codingComplex	GHDC	NM_032484.4,NM_001142623.1,NM_001142622.1	,,	57,0,351,2,5,4137	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2519,5.1155,5.2065	,,	,,		465,9,8630				SO:0001651	inframe_deletion	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40345560_40345562delGCA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.38_40delTGC	17.37:g.40345569_40345571delGCA	ENSP00000301671:p.Leu13del					GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del	p.LP13del			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	479_481	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	13					B4DQS4|E9PDB5|Q9BXM6	In_Frame_Del	DEL	ENST00000301671.8	37	c.38_40delTGC	CCDS11422.1																																																																																				0.631	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		3	5						3	5	---	---	---	---
AATK	9625	broad.mit.edu	37	17	79094374	79094374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr17:79094374delG	ENST00000326724.4	-	11	3386	c.3362delC	c.(3361-3363)ccafs	p.P1121fs	AATK_ENST00000417379.1_Frame_Shift_Del_p.P1018fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1121	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAACAGTCCTGGGGGCCCCTG	0.692																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3361-3363)cafs		apoptosis-associated tyrosine kinase							6.0	7.0	6.0					17																	79094374		1763	3977	5740	SO:0001589	frameshift_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094374delG	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3362delC	17.37:g.79094374delG	ENSP00000324196:p.Pro1121fs					AATK_ENST00000417379.1_Frame_Shift_Del_p.P1018fs	p.P1121fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3386	-	all_neural(118;0.101)		1121			Pro-rich.		O75136|Q6ZN31|Q86X28	Frame_Shift_Del	DEL	ENST00000326724.4	37	c.3362delC	CCDS45807.1																																																																																				0.692	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42798816	42798817	+	Frame_Shift_Ins	INS	-	-	GCGG			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:42798816_42798817insGCGG	ENST00000575354.2	+	19	4428_4429	c.4388_4389insGCGG	c.(4387-4392)ctgcggfs	p.-1464fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-2370fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-1462fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						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)				TACTCCTCCCTGCGGCGCACCC	0.629			"""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.(7105-7107)ccgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798816_42798817insGCGG	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.4389_4392dupGCGG	19.37:g.42798817_42798820dupGCGG	ENSP00000458663:p.Arg1464fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1463fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1461fs	p.P2369fs			Q96RK0	CIC_HUMAN			20	7174_7175	+		Prostate(69;0.00682)	1463					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.7106_7107insGCGG	CCDS12601.1																																																																																				0.629	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			22	31						22	31	---	---	---	---
