#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
RFX1	5989	broad.mit.edu	37	19	14094339	14094339	+	Missense_Mutation	SNP	C	C	T	rs377552211		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:14094339C>T	ENST00000254325.4	-	3	622	c.388G>A	c.(388-390)Gtt>Att	p.V130I		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	130					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGAGTAGGAACGCCGGTCTGG	0.706																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(388-390)Gtt>Att		regulatory factor X, 1 (influences HLA class II expression)		C	ILE/VAL	0,4396		0,0,2198	23.0	23.0	23.0		388	3.5	0.6	19		23	1,8593		0,1,4296	no	missense	RFX1	NM_002918.4	29	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	130/980	14094339	1,12989	2198	4297	6495	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14094339C>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.388G>A	19.37:g.14094339C>T	ENSP00000254325:p.Val130Ile						p.V130I	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		3	622	-			130						Missense_Mutation	SNP	ENST00000254325.4	37	c.388G>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644649	0.47258	0.0	1.16E-4	ENSG00000132005	ENST00000254325	T	0.49720	0.77	4.59	3.55	0.40652	.	0.157473	0.40908	N	0.000999	T	0.35068	0.0919	L	0.29908	0.895	0.35377	D	0.789585	B	0.20550	0.046	B	0.10450	0.005	T	0.40869	-0.9540	10	0.54805	T	0.06	-30.5389	11.468	0.50249	0.0:0.9091:0.0:0.0909	.	130	P22670	RFX1_HUMAN	I	130	ENSP00000254325:V130I	ENSP00000254325:V130I	V	-	1	0	RFX1	13955339	1.000000	0.71417	0.574000	0.28523	0.405000	0.30901	5.763000	0.68818	0.901000	0.36495	0.462000	0.41574	GTT		0.706	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		5	14	0	0	0	1	0	5	14				
GDAP1L1	78997	broad.mit.edu	37	20	42885841	42885841	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:42885841G>A	ENST00000342560.5	+	2	317	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.V77M|GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	77	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAGCGGGACGTGAGCCTGCC	0.667																																						ENST00000342560.5																			0				endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(229-231)Gtg>Atg		ganglioside induced differentiation associated protein 1-like 1							90.0	56.0	67.0					20																	42885841		2201	4299	6500	SO:0001583	missense	78997							g.chr20:42885841G>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.229G>A	20.37:g.42885841G>A	ENSP00000341782:p.Val77Met					GDAP1L1_ENST00000372952.3_Missense_Mutation_p.V77M|GDAP1L1_ENST00000537864.1_Intron	p.V77M	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	317	+		Myeloproliferative disorder(115;0.0122)	77			GST N-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.229G>A	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.169669|5.169669	0.94768|0.94768	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000445952|ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63438|0.63438	0.2511|0.2511	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.998;1.0;0.999;0.999	T|T	0.66452|0.66452	-0.5920|-0.5920	5|10	.|0.56958	.|D	.|0.05	.|.	19.3061|19.3061	0.94163|0.94163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;77;77;23	.|B7Z1I3;B7Z621;Q96MZ0;Q5JY50	.|.;.;GD1L1_HUMAN;.	H|M	23|77;75;77;46;77;77	.|ENSP00000341782:V77M;ENSP00000392881:V77M;ENSP00000362043:V77M	.|ENSP00000341782:V77M	R|V	+|+	2|1	0|0	GDAP1L1|GDAP1L1	42319255|42319255	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.229000|9.229000	0.95273|0.95273	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.667	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		17	17	0	0	0	1	0	17	17				
NCOA3	8202	broad.mit.edu	37	20	46262895	46262895	+	Silent	SNP	A	A	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:46262895A>T	ENST00000371998.3	+	10	1259	c.1068A>T	c.(1066-1068)gtA>gtT	p.V356V	NCOA3_ENST00000341724.6_Silent_p.V366V|NCOA3_ENST00000372004.3_Silent_p.V356V|NCOA3_ENST00000371997.3_Silent_p.V366V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	356					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAAATCCTGTAACAAATGATC	0.403																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1066-1068)gtA>gtT		nuclear receptor coactivator 3							174.0	149.0	158.0					20																	46262895		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262895A>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1068A>T	20.37:g.46262895A>T						NCOA3_ENST00000371998.3_Silent_p.V356V|NCOA3_ENST00000371997.3_Silent_p.V366V|NCOA3_ENST00000341724.6_Silent_p.V366V	p.V356V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			10	1284	+			356					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.1068A>T	CCDS13407.1																																																																																				0.403	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		43	166	0	0	0	1	0	43	166				
KSR1	8844	broad.mit.edu	37	17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	rs370584036		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	37					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			2	Substitution - Missense(2)	p.A37E(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(109-111)gCg>gAg		kinase suppressor of ras 1																																				SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783779C>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.110C>A	17.37:g.25783779C>A	ENSP00000323178:p.Ala37Glu					KSR1_ENST00000509603.2_Missense_Mutation_p.A37E	p.A37E			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	110	+	Lung NSC(42;0.00836)		35					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.110C>A		.	.	.	.	.	.	.	.	.	.	C	29.4	5.000545	0.93227	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	D;T	0.81579	-1.51;-1.49	4.79	3.74	0.42951	.	0.065046	0.64402	D	0.000014	D	0.84982	0.5593	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86422	0.1755	7	0.87932	D	0	.	11.1476	0.48440	0.1841:0.8159:0.0:0.0	.	.	.	.	E	37	ENSP00000323178:A37E;ENSP00000438795:A37E	ENSP00000323178:A37E	A	+	2	0	KSR1	22807906	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.153000	0.50685	2.366000	0.80165	0.462000	0.41574	GCG		0.741	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	32	1	0	0.00024832	1	0.000257871	4	32				
ACRC	93953	broad.mit.edu	37	X	70828953	70828953	+	Missense_Mutation	SNP	G	G	A	rs201497331		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chrX:70828953G>A	ENST00000373695.1	+	9	2134	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.V533I			Q96QF7	ACRC_HUMAN	acidic repeat containing	533	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TAACAGATCCGTCTGTGATAA	0.393																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1597-1599)Gtc>Atc		acidic repeat containing							60.0	51.0	54.0					X																	70828953		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70828953G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1597G>A	X.37:g.70828953G>A	ENSP00000362799:p.Val533Ile					ACRC_ENST00000373696.3_Missense_Mutation_p.V533I|ACRC_ENST00000471950.1_3'UTR	p.V533I			Q96QF7	ACRC_HUMAN			9	2134	+	Renal(35;0.156)		533					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1597G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164713	0.38217	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.42900	0.96;0.96	4.81	1.01	0.19927	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.35219	0.0924	L	0.35644	1.08	0.25843	N	0.984035	D	0.56287	0.975	P	0.47251	0.542	T	0.16660	-1.0395	9	0.49607	T	0.09	.	6.9989	0.24799	0.4141:0.0:0.5859:0.0	.	533	Q96QF7	ACRC_HUMAN	I	533	ENSP00000362800:V533I;ENSP00000362799:V533I	ENSP00000362799:V533I	V	+	1	0	ACRC	70745678	0.861000	0.29849	0.169000	0.22859	0.005000	0.04900	1.130000	0.31393	0.122000	0.18314	-0.494000	0.04653	GTC		0.393	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			20	32	0	0	0	1	0	20	32				
LOC101927905	101927905	broad.mit.edu	37	12	8386955	8386955	+	lincRNA	SNP	T	T	C	rs75997195	byFrequency	TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr12:8386955T>C	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							CTTGTGCTCCTGGCAGGCAGC	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386955T>C																													12.37:g.8386955T>C														0	811	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.612	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			4	87	0	0	0	1	0	4	87				
IGHG4	3503	broad.mit.edu	37	14	106090898	106090898	+	RNA	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr14:106090898C>T	ENST00000390543.2	-	0	898							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GAAGACATTCCCCTCCTGCCA	0.587																																						ENST00000390543.2																			0																				174.0	248.0	224.0					14																	106090898		2057	4224	6281			0							g.chr14:106090898C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090898C>T														0	898	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.587	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		68	44	0	0	0	1	0	68	44				
MED28	80306	broad.mit.edu	37	4	17616293	17616293	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:17616293G>C	ENST00000237380.7	+	1	40	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R	AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	6					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						GGCTCCACTAGGGGGTATGTT	0.652																																						ENST00000237380.6																			0				lung(6)|skin(2)	8						c.(16-18)Ggg>Cgg		mediator complex subunit 28							20.0	25.0	23.0					4																	17616293		2200	4299	6499	SO:0001583	missense	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17616293G>C	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.16G>C	4.37:g.17616293G>C	ENSP00000237380:p.Gly6Arg						p.G6R	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN			1	40	+			6					Q9BZJ5	Missense_Mutation	SNP	ENST00000237380.7	37	c.16G>C	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059818	0.55325	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	5.46	5.46	0.80206	.	0.190514	0.56097	D	0.000024	T	0.40839	0.1133	L	0.27053	0.805	0.44261	D	0.997117	P	0.46706	0.883	B	0.42555	0.391	T	0.38436	-0.9661	9	0.72032	D	0.01	2.5621	9.9567	0.41671	0.1476:0.0:0.8524:0.0	.	6	Q9H204	MED28_HUMAN	R	6;3	.	ENSP00000237380:G6R	G	+	1	0	MED28	17225391	0.999000	0.42202	0.919000	0.36401	0.010000	0.07245	2.043000	0.41231	2.840000	0.97914	0.655000	0.94253	GGG		0.652	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		19	48	0	0	0	1	0	19	48				
SLC6A17	388662	broad.mit.edu	37	1	110741027	110741027	+	Silent	SNP	C	C	T	rs151260028		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr1:110741027C>T	ENST00000331565.4	+	12	2630	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	715					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTATGGGAGCGGCTACCTGC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16224	0.0		0.0	False		,,,				2504	0.0					ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2143-2145)agC>agT		solute carrier family 6 (neutral amino acid transporter), member 17		C		1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	66.0		2145	-1.7	1.0	1	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC6A17	NM_001010898.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		715/728	110741027	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110741027C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2145C>T	1.37:g.110741027C>T							p.S715S	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2630	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	715					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.2145C>T	CCDS30799.1																																																																																				0.667	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		31	46	0	0	0	1	0	31	46				
OR2A5	393046	broad.mit.edu	37	7	143748419	143748419	+	Silent	SNP	A	A	C			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:143748419A>C	ENST00000408906.2	+	1	959	c.925A>C	c.(925-927)Aga>Cga	p.R309R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGAAACAGAGATCAAAGTG	0.473																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(925-927)Aga>Cga		olfactory receptor, family 2, subfamily A, member 5							89.0	90.0	90.0					7																	143748419		1942	4157	6099	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748419A>C	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.925A>C	7.37:g.143748419A>C							p.R309R	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	959	+	Melanoma(164;0.0783)		309					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.925A>C	CCDS43668.1																																																																																				0.473	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			28	20	0	0	0	1	0	28	20				
NAA11	84779	broad.mit.edu	37	4	80246705	80246705	+	Silent	SNP	C	C	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:80246705C>A	ENST00000286794.4	-	1	499	c.327G>T	c.(325-327)ctG>ctT	p.L109L	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	109	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCTGACGTGCAGAGACACGT	0.532																																						ENST00000286794.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(325-327)ctG>ctT		N(alpha)-acetyltransferase 11, NatA catalytic subunit							58.0	62.0	61.0					4																	80246705		2097	4242	6339	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246705C>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.327G>T	4.37:g.80246705C>A							p.L109L	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	499	-			109			N-acetyltransferase.		Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.327G>T	CCDS47084.1																																																																																				0.532	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			19	37	1	0	5.35267e-07	1	5.78088e-07	19	37				
REXO1	57455	broad.mit.edu	37	19	1827746	1827746	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:1827746C>T	ENST00000170168.4	-	2	1136	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	348						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGAGGTCCCCCACGTCG	0.687																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1042-1044)Gac>Aac		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							9.0	11.0	10.0					19																	1827746		2158	4233	6391	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827746C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1042G>A	19.37:g.1827746C>T	ENSP00000170168:p.Asp348Asn					REXO1_ENST00000587524.1_5'UTR	p.D348N	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1136	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	348					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1042G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956515	0.53293	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.14516	2.5	4.12	4.12	0.48240	.	0.178529	0.47852	D	0.000204	T	0.35128	0.0921	M	0.72894	2.215	0.43381	D	0.995481	D;D	0.89917	0.996;1.0	D;D	0.80764	0.993;0.994	T	0.07693	-1.0759	10	0.34782	T	0.22	-39.6831	15.5364	0.76007	0.0:1.0:0.0:0.0	.	302;348	F5H016;Q8N1G1	.;REXO1_HUMAN	N	348;302	ENSP00000170168:D348N	ENSP00000170168:D348N	D	-	1	0	REXO1	1778746	0.981000	0.34729	0.453000	0.27007	0.010000	0.07245	2.504000	0.45416	2.130000	0.65690	0.555000	0.69702	GAC		0.687	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		6	11	0	0	0	1	0	6	11				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	42	0	0	0	1	0	4	42				
ZSCAN10	84891	broad.mit.edu	37	16	3139727	3139727	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr16:3139727G>A	ENST00000252463.2	-	5	1630	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R176W|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R433W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	515					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGTGCACCCGTTGGTGGCTG	0.721																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1543-1545)Cgg>Tgg		zinc finger and SCAN domain containing 10							11.0	12.0	12.0					16																	3139727		2175	4258	6433	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139727G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1543C>T	16.37:g.3139727G>A	ENSP00000252463:p.Arg515Trp					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R433W|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R176W	p.R515W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1630	-			515					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1543C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.760068	0.31137	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.25579	1.79	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194233	0.27397	N	0.019559	T	0.59335	0.2186	M	0.93550	3.43	0.19575	N	0.999965	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.80764	0.925;0.994;0.478	T	0.61564	-0.7037	10	0.87932	D	0	-25.2066	11.6059	0.51031	0.0:0.0:0.8221:0.1779	.	176;448;515	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	W	448;515	ENSP00000252463:R515W	ENSP00000252463:R515W	R	-	1	2	ZSCAN10	3079728	0.001000	0.12720	0.950000	0.38849	0.960000	0.62799	-0.004000	0.12878	2.504000	0.84457	0.561000	0.74099	CGG		0.721	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		6	15	0	0	0	1	0	6	15				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		3	43	0	0	0	1	0	3	43				
IBSP	3381	broad.mit.edu	37	4	88723847	88723847	+	Silent	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:88723847C>T	ENST00000226284.5	+	4	214	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	49					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACAAGCATGCCTACTTTTATC	0.259																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(145-147)gcC>gcT		integrin-binding sialoprotein							49.0	50.0	49.0					4																	88723847		2202	4288	6490	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88723847C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.147C>T	4.37:g.88723847C>T							p.A49A	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	4	214	+		Hepatocellular(203;0.114)	49						Silent	SNP	ENST00000226284.5	37	c.147C>T	CCDS3624.1																																																																																				0.259	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			17	33	0	0	0	1	0	17	33				
ALG3	10195	broad.mit.edu	37	3	183963520	183963520	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:183963520C>T	ENST00000397676.3	-	2	307	c.277G>A	c.(277-279)Ggt>Agt	p.G93S	ALG3_ENST00000445626.2_Missense_Mutation_p.G45S|ALG3_ENST00000463495.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Intron|ALG3_ENST00000455059.1_Missense_Mutation_p.G53S	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	93					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGTGTCACCCTGCAGTTGG	0.522																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(157-159)Ggt>Agt		ALG3, alpha-1,3- mannosyltransferase							107.0	106.0	107.0					3																	183963520		2079	4212	6291	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183963520C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.277G>A	3.37:g.183963520C>T	ENSP00000380793:p.Gly93Ser					ALG3_ENST00000397676.3_Missense_Mutation_p.G93S|ALG3_ENST00000445626.2_Missense_Mutation_p.G45S|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Intron	p.G53S			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	611	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		93					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.157G>A	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904473	0.72868	.	.	ENSG00000214160	ENST00000397676;ENST00000445626;ENST00000455059	D;D;D	0.93811	-3.29;-3.29;-3.29	4.71	3.84	0.44239	.	0.000000	0.85682	U	0.000000	D	0.97371	0.9140	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97572	1.0105	10	0.87932	D	0	-3.2067	11.2511	0.49026	0.0:0.9105:0.0:0.0895	.	45;53;93	A8JZZ6;C9J7S5;Q92685	.;.;ALG3_HUMAN	S	93;45;53	ENSP00000380793:G93S;ENSP00000402744:G45S;ENSP00000397613:G53S	ENSP00000380793:G93S	G	-	1	0	ALG3	185446214	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.531000	0.81973	1.204000	0.43247	0.462000	0.41574	GGT		0.522	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		26	27	0	0	0	1	0	26	27				
LHX1	3975	broad.mit.edu	37	17	35300251	35300251	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:35300251G>A	ENST00000254457.5	+	5	2455	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	348					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACATCCTGGCGCACCCACCCG	0.746																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(1042-1044)gcG>gcA		LIM homeobox 1							9.0	12.0	11.0					17																	35300251		2177	4258	6435	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35300251G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.1044G>A	17.37:g.35300251G>A						RP11-445F12.2_ENST00000607336.1_RNA	p.A348A	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			5	2455	+		Breast(25;0.00607)	348					Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.1044G>A	CCDS11316.1																																																																																				0.746	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		9	9	0	0	0	1	0	9	9				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	136	0	0	0	1	0	4	136				
NCOA3	8202	broad.mit.edu	37	20	46262897	46262897	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:46262897C>G	ENST00000371998.3	+	10	1261	c.1070C>G	c.(1069-1071)aCa>aGa	p.T357R	NCOA3_ENST00000341724.6_Missense_Mutation_p.T367R|NCOA3_ENST00000372004.3_Missense_Mutation_p.T357R|NCOA3_ENST00000371997.3_Missense_Mutation_p.T367R			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	357					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AATCCTGTAACAAATGATCGA	0.403																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1069-1071)aCa>aGa		nuclear receptor coactivator 3							174.0	149.0	157.0					20																	46262897		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262897C>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1070C>G	20.37:g.46262897C>G	ENSP00000361066:p.Thr357Arg					NCOA3_ENST00000371998.3_Missense_Mutation_p.T357R|NCOA3_ENST00000371997.3_Missense_Mutation_p.T367R|NCOA3_ENST00000341724.6_Missense_Mutation_p.T367R	p.T357R	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			10	1286	+			357					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1070C>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486373	0.84854	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.75	5.75	0.90469	.	0.054718	0.64402	D	0.000001	T	0.48677	0.1513	M	0.73217	2.22	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.992;0.999;0.992;0.992;0.995;0.992	D;D;D;D;D;D	0.71414	0.917;0.973;0.917;0.917;0.962;0.917	T	0.43798	-0.9369	10	0.72032	D	0.01	-20.1443	19.9522	0.97203	0.0:1.0:0.0:0.0	.	357;367;361;357;357;357	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	R	357;367;357;357;367;123	ENSP00000342123:T367R;ENSP00000361073:T357R;ENSP00000361066:T357R;ENSP00000361065:T367R	ENSP00000345671:T357R	T	+	2	0	NCOA3	45696304	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.193000	0.58385	2.725000	0.93324	0.655000	0.94253	ACA		0.403	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		40	165	0	0	0	1	0	40	165				
MPPED1	758	broad.mit.edu	37	22	43821099	43821099	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr22:43821099G>A	ENST00000417669.2	+	2	552	c.108G>A	c.(106-108)cgG>cgA	p.R36R	MPPED1_ENST00000443721.1_Silent_p.R36R|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Silent_p.R36R|MPPED1_ENST00000538182.1_Silent_p.R69R			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	36							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TGGCCGCTCGGCGGCACCAGC	0.662																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(106-108)cgG>cgA		metallophosphoesterase domain containing 1							36.0	41.0	39.0					22																	43821099		2146	4273	6419	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43821099G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.108G>A	22.37:g.43821099G>A						MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Silent_p.R69R|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Silent_p.R36R|MPPED1_ENST00000443721.1_Silent_p.R36R	p.R36R			O15442	MPPD1_HUMAN			2	552	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	36					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.108G>A	CCDS46723.1																																																																																				0.662	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		22	18	0	0	0	1	0	22	18				
TSHZ3	57616	broad.mit.edu	37	19	31768091	31768091	+	Missense_Mutation	SNP	C	C	T	rs550088288		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:31768091C>T	ENST00000240587.4	-	2	2935	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	870					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCAGACTTCTCGGAGATGCTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18678	0.0		0.0	False		,,,				2504	0.001					ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2608-2610)Gag>Aag		teashirt zinc finger homeobox 3							85.0	80.0	82.0					19																	31768091		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768091C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2608G>A	19.37:g.31768091C>T	ENSP00000240587:p.Glu870Lys						p.E870K	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2935	-	Esophageal squamous(110;0.226)		870					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2608G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639525	0.87760	.	.	ENSG00000121297	ENST00000240587	T	0.12984	2.63	5.09	5.09	0.68999	.	0.050486	0.85682	D	0.000000	T	0.31482	0.0798	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.01276	-1.1398	10	0.46703	T	0.11	-29.4922	18.4995	0.90876	0.0:1.0:0.0:0.0	.	870	Q63HK5	TSH3_HUMAN	K	870	ENSP00000240587:E870K	ENSP00000240587:E870K	E	-	1	0	TSHZ3	36459931	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.455000	0.80726	2.351000	0.79841	0.591000	0.81541	GAG		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		42	77	0	0	0	1	0	42	77				
GAL3ST3	89792	broad.mit.edu	37	11	65810541	65810541	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:65810541C>T	ENST00000312006.4	-	3	1014	c.733G>A	c.(733-735)Gac>Aac	p.D245N	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D245N	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	245					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGCGACTCGTCGAAGTACTCG	0.692																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(733-735)Gac>Aac		galactose-3-O-sulfotransferase 3							30.0	31.0	31.0					11																	65810541		2201	4296	6497	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810541C>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.733G>A	11.37:g.65810541C>T	ENSP00000308591:p.Asp245Asn					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D245N	p.D245N	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	1014	-			245					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.733G>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	c	28.4	4.913478	0.92178	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.26518	1.73;1.73	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.73430	2.235	0.48975	D	0.999735	D	0.89917	1.0	D	0.87578	0.998	T	0.56613	-0.7950	10	0.72032	D	0.01	-41.2677	15.0884	0.72174	0.0:1.0:0.0:0.0	.	245	Q96A11	G3ST3_HUMAN	N	245	ENSP00000308591:D245N;ENSP00000434829:D245N	ENSP00000308591:D245N	D	-	1	0	GAL3ST3	65567117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.727000	0.84838	2.212000	0.71576	0.556000	0.70494	GAC		0.692	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		35	46	0	0	0	1	0	35	46				
ANKRD30B	374860	broad.mit.edu	37	18	14850370	14850370	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr18:14850370A>G	ENST00000358984.4	+	35	3376	c.3196A>G	c.(3196-3198)Aat>Gat	p.N1066D		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1066										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGTAACAAGTAATTTGAATCA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3196-3198)Aat>Gat		ankyrin repeat domain 30B							38.0	37.0	37.0					18																	14850370		692	1570	2262	SO:0001583	missense	374860							g.chr18:14850370A>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3196A>G	18.37:g.14850370A>G	ENSP00000351875:p.Asn1066Asp						p.N1066D	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3376	+			1151					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3196A>G	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682987	0.29872	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.19669	2.13	1.48	-1.38	0.09027	.	.	.	.	.	T	0.17619	0.0423	M	0.64080	1.96	0.09310	N	1	B;B	0.23540	0.002;0.087	B;B	0.11329	0.001;0.006	T	0.29822	-0.9999	9	0.59425	D	0.04	.	3.1901	0.06614	0.5877:0.2433:0.1691:0.0	.	1151;1066	Q9BXX2;F8WAG3	AN30B_HUMAN;.	D	1066;460;486	ENSP00000351875:N1066D	ENSP00000277669:N486D	N	+	1	0	ANKRD30B	14840370	0.002000	0.14202	0.000000	0.03702	0.147000	0.21601	0.448000	0.21726	-0.359000	0.08150	0.145000	0.16022	AAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	11	0	0	0	1	0	4	11				
CUX1	1523	broad.mit.edu	37	7	101459365	101459365	+	5'Flank	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:101459365C>T	ENST00000292535.7	+	0	0				CUX1_ENST00000360264.3_Nonsense_Mutation_p.Q19*|CUX1_ENST00000546411.2_5'Flank|CUX1_ENST00000556210.1_5'Flank|CUX1_ENST00000437600.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000549414.2_5'Flank|CUX1_ENST00000425244.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000550008.2_5'Flank|CUX1_ENST00000292538.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.Q19*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGATTTACAGCAGCTGCAGGT	0.672																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(55-57)Cag>Tag		cut-like homeobox 1							70.0	67.0	68.0					7																	101459365		2203	4300	6503	SO:0001631	upstream_gene_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101459365C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129		7.37:g.101459365C>T	Exception_encountered					CUX1_ENST00000547394.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.Q19*	p.Q19*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			1	75	+			8					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.55C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	37	6.517634	0.97629	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600	.	.	.	1.83	0.897	0.19258	.	1.041480	0.07654	U	0.932380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.0012	7.8845	0.29642	0.0:0.8517:0.0:0.1483	.	.	.	.	X	19	.	ENSP00000292538:Q19X	Q	+	1	0	CUX1	101246085	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	5.479000	0.66813	0.344000	0.23847	0.465000	0.42564	CAG		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		64	26	0	0	0	1	0	64	26				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	140	0	0	0	1	0	4	140				
XRCC2	7516	broad.mit.edu	37	7	152345781	152345781	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:152345781G>C	ENST00000359321.1	-	3	874	c.789C>G	c.(787-789)aaC>aaG	p.N263K	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	263					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTTTTAAACTGTTACTTTTTA	0.333								Homologous recombination																														ENST00000359321.1																			0				NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(787-789)aaC>aaG	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							60.0	66.0	64.0					7																	152345781		2203	4300	6503	SO:0001583	missense	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152345781G>C	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.789C>G	7.37:g.152345781G>C	ENSP00000352271:p.Asn263Lys					XRCC2_ENST00000495707.1_5'UTR	p.N263K	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	874	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	263					B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.789C>G	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	G	0.201	-1.044704	0.01997	.	.	ENSG00000196584	ENST00000359321	T	0.65178	-0.14	5.49	4.61	0.57282	.	0.273421	0.38959	N	0.001506	T	0.46034	0.1372	L	0.39633	1.23	0.32920	D	0.515644	B	0.02656	0.0	B	0.01281	0.0	T	0.47169	-0.9138	10	0.02654	T	1	-16.8092	10.0047	0.41951	0.0:0.1311:0.6058:0.2631	.	263	O43543	XRCC2_HUMAN	K	263	ENSP00000352271:N263K	ENSP00000352271:N263K	N	-	3	2	XRCC2	151976714	0.998000	0.40836	0.915000	0.36163	0.006000	0.05464	1.464000	0.35288	1.317000	0.45149	-0.266000	0.10368	AAC		0.333	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		27	51	0	0	0	1	0	27	51				
MAP3K19	80122	broad.mit.edu	37	2	135782204	135782204	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr2:135782204G>A	ENST00000375845.3	-	1	44	c.14C>T	c.(13-15)cCa>cTa	p.P5L	MAP3K19_ENST00000375844.3_Missense_Mutation_p.P5L|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P5L|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P5L|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P5L|MAP3K19_ENST00000315513.3_5'Flank|MAP3K19_ENST00000392915.1_5'Flank	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	5							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ACCTGGTTTTGGCATAGAACT	0.333																																						ENST00000375845.3																			0											c.(13-15)cCa>cTa		mitogen-activated protein kinase kinase kinase 19							240.0	251.0	247.0					2																	135782204		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135782204G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.14C>T	2.37:g.135782204G>A	ENSP00000365005:p.Pro5Leu					MAP3K19_ENST00000392917.3_Missense_Mutation_p.P5L|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P5L|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P5L|MAP3K19_ENST00000375844.3_Missense_Mutation_p.P5L	p.P5L	NM_025052.3	NP_079328.3					1	44	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.14C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354425	0.41700	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917	T;D;T;T;T	0.85013	-1.2;-1.93;-1.27;-1.31;-1.08	4.16	3.28	0.37604	.	0.258995	0.20366	U	0.093755	D	0.89371	0.6696	M	0.62723	1.935	0.80722	D	1	B;B;B;B;D	0.89917	0.016;0.087;0.049;0.028;1.0	B;B;B;B;D	0.83275	0.009;0.084;0.03;0.03;0.996	D	0.88426	0.3032	10	0.87932	D	0	.	8.1041	0.30874	0.1111:0.0:0.8889:0.0	.	5;5;5;5;5	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	L	5	ENSP00000365005:P5L;ENSP00000351140:P5L;ENSP00000365004:P5L;ENSP00000376650:P5L;ENSP00000376649:P5L	ENSP00000351140:P5L	P	-	2	0	YSK4	135498674	1.000000	0.71417	0.999000	0.59377	0.401000	0.30781	2.876000	0.48498	1.094000	0.41399	0.462000	0.41574	CCA		0.333	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		36	82	0	0	0	1	0	36	82				
TMEM105	284186	broad.mit.edu	37	17	79288241	79288241	+	Missense_Mutation	SNP	C	C	T	rs201571116		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:79288241C>T	ENST00000332900.1	-	2	571	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	8						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TTCAAGGACGCCCTCCTCACC	0.647																																						ENST00000332900.1																			0				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7						c.(22-24)Gcg>Acg		transmembrane protein 105							52.0	41.0	45.0					17																	79288241		2200	4298	6498	SO:0001583	missense	284186					integral to membrane		g.chr17:79288241C>T	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.22G>A	17.37:g.79288241C>T	ENSP00000329795:p.Ala8Thr						p.A8T	NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		2	571	-	all_neural(118;0.0804)|Melanoma(429;0.242)		8						Missense_Mutation	SNP	ENST00000332900.1	37	c.22G>A	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	C	8.540	0.873009	0.17322	.	.	ENSG00000185332	ENST00000332900	T	0.54479	0.57	3.66	-1.35	0.09114	.	.	.	.	.	T	0.28366	0.0701	N	0.08118	0	0.09310	N	1	P	0.40731	0.728	B	0.40477	0.33	T	0.18429	-1.0337	9	0.87932	D	0	.	3.7606	0.08602	0.0:0.3106:0.415:0.2744	.	8	Q8N8V8	TM105_HUMAN	T	8	ENSP00000329795:A8T	ENSP00000329795:A8T	A	-	1	0	TMEM105	76902836	0.000000	0.05858	0.008000	0.14137	0.188000	0.23474	-0.095000	0.11077	-0.073000	0.12842	0.561000	0.74099	GCG		0.647	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		13	13	0	0	0	1	0	13	13				
PTPRG	5793	broad.mit.edu	37	3	62153675	62153675	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:62153675G>A	ENST00000474889.1	+	8	1248	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PTPRG_ENST00000295874.10_Missense_Mutation_p.E291K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	291	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTCACCACGGAGCAGCAAGA	0.478																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(871-873)Gag>Aag		protein tyrosine phosphatase, receptor type, G							83.0	81.0	82.0					3																	62153675		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62153675G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.871G>A	3.37:g.62153675G>A	ENSP00000418112:p.Glu291Lys					PTPRG_ENST00000295874.10_Missense_Mutation_p.E291K	p.E291K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	8	1248	+			291			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.871G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520829	0.85495	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66460	-0.21;-0.21	5.2	5.2	0.72013	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.050299	0.85682	D	0.000000	T	0.71350	0.3329	L	0.53249	1.67	0.80722	D	1	P;P	0.47191	0.649;0.891	B;P	0.48166	0.183;0.569	T	0.75085	-0.3442	10	0.72032	D	0.01	.	19.0997	0.93269	0.0:0.0:1.0:0.0	.	291;291	P23470-2;P23470	.;PTPRG_HUMAN	K	291	ENSP00000418112:E291K;ENSP00000295874:E291K	ENSP00000295874:E291K	E	+	1	0	PTPRG	62128715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.373000	0.97168	2.582000	0.87167	0.655000	0.94253	GAG		0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		40	84	0	0	0	1	0	40	84				
CDON	50937	broad.mit.edu	37	11	125887050	125887050	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:125887050G>A	ENST00000392693.3	-	6	988	c.861C>T	c.(859-861)aaC>aaT	p.N287N	CDON_ENST00000263577.7_Silent_p.N287N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	287	Ig-like C2-type 3.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGCAGGAATAGTTTCCGGAGT	0.428																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(859-861)aaC>aaT		cell adhesion associated, oncogene regulated							81.0	77.0	78.0					11																	125887050		2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125887050G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.861C>T	11.37:g.125887050G>A						CDON_ENST00000263577.7_Silent_p.N287N	p.N287N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	6	988	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	287			Ig-like C2-type 3.		O14631	Silent	SNP	ENST00000392693.3	37	c.861C>T	CCDS58192.1																																																																																				0.428	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		28	43	0	0	0	1	0	28	43				
RNF113B	140432	broad.mit.edu	37	13	98828793	98828793	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr13:98828793C>A	ENST00000267291.6	-	1	726	c.698G>T	c.(697-699)gGt>gTt	p.G233V	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	233							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			ACAGTAGCGACCCTCTTCAAG	0.527																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(697-699)gGt>gTt		ring finger protein 113B							101.0	94.0	96.0					13																	98828793		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98828793C>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.698G>T	13.37:g.98828793C>A	ENSP00000267291:p.Gly233Val					FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron	p.G233V	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	726	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		233					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.698G>T	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272725	0.40194	.	.	ENSG00000139797	ENST00000267291	T	0.33865	1.39	1.57	1.57	0.23409	.	0.000000	0.85682	U	0.000000	T	0.56804	0.2010	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58476	-0.7630	10	0.44086	T	0.13	.	9.0801	0.36547	0.0:1.0:0.0:0.0	.	233	Q8IZP6	R113B_HUMAN	V	233	ENSP00000267291:G233V	ENSP00000267291:G233V	G	-	2	0	RNF113B	97626794	1.000000	0.71417	0.998000	0.56505	0.309000	0.27889	4.754000	0.62191	1.176000	0.42840	0.591000	0.81541	GGT		0.527	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		25	54	1	0	3.08376e-08	1	3.39843e-08	25	54				
SHCBP1	79801	broad.mit.edu	37	16	46655218	46655218	+	Silent	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr16:46655218C>T	ENST00000303383.3	-	1	320	c.54G>A	c.(52-54)ccG>ccA	p.P18P	SHCBP1_ENST00000564272.1_5'UTR|RP11-46D6.1_ENST00000574180.1_lincRNA	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	18					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCATGCGCTCCGGCGCCATGG	0.697																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(52-54)ccG>ccA		SHC SH2-domain binding protein 1							26.0	32.0	30.0					16																	46655218		2161	4234	6395	SO:0001819	synonymous_variant	79801							g.chr16:46655218C>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.54G>A	16.37:g.46655218C>T						SHCBP1_ENST00000564272.1_5'UTR	p.P18P	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			1	320	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	18					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.54G>A	CCDS10720.1																																																																																				0.697	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		24	39	0	0	0	1	0	24	39				
NEK6	10783	broad.mit.edu	37	9	127074826	127074826	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr9:127074826G>A	ENST00000320246.5	+	3	274	c.129G>A	c.(127-129)gcG>gcA	p.A43A	NEK6_ENST00000545174.1_Silent_p.A43A|NEK6_ENST00000394199.2_Silent_p.A77A|NEK6_ENST00000540326.1_Silent_p.A61A|NEK6_ENST00000546191.1_Silent_p.A43A|NEK6_ENST00000373603.1_Silent_p.A43A|NEK6_ENST00000373600.3_Silent_p.A77A|NEK6_ENST00000539416.1_Silent_p.A68A	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	43	Interaction with ARHGAP33, ANKRA2, CDC42, PRDX3, RAD26L, RBBP6, RPS7 and TRIP4.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GCTCGCTGGCGGACTTCCAGA	0.612																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(229-231)gcG>gcA		NIMA-related kinase 6							57.0	52.0	53.0					9																	127074826		2203	4300	6503	SO:0001819	synonymous_variant	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127074826G>A	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.129G>A	9.37:g.127074826G>A						NEK6_ENST00000539416.1_Silent_p.A68A|NEK6_ENST00000545174.1_Silent_p.A43A|NEK6_ENST00000546191.1_Silent_p.A43A|NEK6_ENST00000394199.2_Silent_p.A77A|NEK6_ENST00000540326.1_Silent_p.A61A|NEK6_ENST00000320246.5_Silent_p.A43A|NEK6_ENST00000373603.1_Silent_p.A43A	p.A77A	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN			4	446	+			43			Protein kinase.		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Silent	SNP	ENST00000320246.5	37	c.231G>A	CCDS6854.1																																																																																				0.612	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		13	37	0	0	0	1	0	13	37				
NAPSA	9476	broad.mit.edu	37	19	50862030	50862030	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:50862030C>T	ENST00000253719.2	-	9	1251	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	348					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GACGCCATTTCGAGTAGTCTG	0.622																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1042-1044)cGa>cAa		napsin A aspartic peptidase							20.0	22.0	21.0					19																	50862030		2200	4297	6497	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862030C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1043G>A	19.37:g.50862030C>T	ENSP00000253719:p.Arg348Gln					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.R348Q	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1251	-		all_neural(266;0.057)	348					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1043G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	6.844	0.525056	0.13066	.	.	ENSG00000131400	ENST00000253719	T	0.56444	0.46	3.24	2.09	0.27110	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.444694	0.23966	N	0.042812	T	0.16727	0.0402	N	0.01631	-0.79	0.09310	N	1	B	0.18741	0.03	B	0.11329	0.006	T	0.32079	-0.9920	10	0.02654	T	1	.	4.9319	0.13921	0.0:0.5641:0.0:0.4359	.	348	O96009	NAPSA_HUMAN	Q	348	ENSP00000253719:R348Q	ENSP00000253719:R348Q	R	-	2	0	NAPSA	55553842	0.000000	0.05858	0.008000	0.14137	0.553000	0.35397	0.191000	0.17076	0.451000	0.26802	0.313000	0.20887	CGA		0.622	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	15	0	0	0	1	0	7	15				
PLXNB3	5365	broad.mit.edu	37	X	153033031	153033031	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chrX:153033031G>A	ENST00000361971.5	+	3	863	c.749G>A	c.(748-750)cGc>cAc	p.R250H	PLXNB3_ENST00000538966.1_Missense_Mutation_p.R273H|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	250	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTccgccgccgcggggcc	0.706																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(817-819)cGc>cAc		plexin B3							12.0	11.0	11.0					X																	153033031		2180	4266	6446	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033031G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.749G>A	X.37:g.153033031G>A	ENSP00000355378:p.Arg250His					PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R250H|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron	p.R273H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	1089	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		250			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.818G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136401	0.56936	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.10668	2.85;2.85	4.88	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.075417	0.52532	N	0.000066	T	0.29190	0.0726	M	0.65975	2.015	0.41059	D	0.985365	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01330	-1.1383	10	0.59425	D	0.04	.	11.5594	0.50768	0.0918:0.0:0.9082:0.0	.	273;250	F5H773;Q9ULL4	.;PLXB3_HUMAN	H	273;250	ENSP00000442736:R273H;ENSP00000355378:R250H	ENSP00000355378:R250H	R	+	2	0	PLXNB3	152686225	1.000000	0.71417	0.935000	0.37517	0.124000	0.20399	6.407000	0.73280	0.847000	0.35167	-0.344000	0.07964	CGC		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			8	13	0	0	0	1	0	8	13				
TSHZ3	57616	broad.mit.edu	37	19	31769601	31769601	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:31769601G>A	ENST00000240587.4	-	2	1425	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	366					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y366_G367>*(1)|p.Y183_G184>*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGTGGCCGTACCGATTAT	0.562																																						ENST00000240587.4																			2	Complex - deletion inframe(2)	p.Y366_G367>*(1)|p.Y183_G184>*(1)	lung(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1096-1098)taC>taT		teashirt zinc finger homeobox 3							252.0	242.0	245.0					19																	31769601		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769601G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1098C>T	19.37:g.31769601G>A							p.Y366Y	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1425	-	Esophageal squamous(110;0.226)		366					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1098C>T	CCDS12421.2																																																																																				0.562	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		75	150	0	0	0	1	0	75	150				
ANKRD30A	91074	broad.mit.edu	37	10	37430975	37430975	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr10:37430975G>A	ENST00000602533.1	+	7	1081	c.982G>A	c.(982-984)Gca>Aca	p.A328T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A328T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A328T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	384					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGGAAGATCGCATGGGAGAA	0.433																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(982-984)Gca>Aca		ankyrin repeat domain 30A							112.0	111.0	111.0					10																	37430975		1839	4093	5932	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430975G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.982G>A	10.37:g.37430975G>A	ENSP00000473551:p.Ala328Thr					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A328T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A328T	p.A328T			Q9BXX3	AN30A_HUMAN			7	1081	+			384					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.982G>A		.	.	.	.	.	.	.	.	.	.	.	4.296	0.054191	0.08291	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.36699	1.35;1.24	0.104	0.104	0.14531	.	.	.	.	.	T	0.23133	0.0559	N	0.19112	0.55	0.09310	N	1	D	0.53312	0.959	P	0.45971	0.499	T	0.14783	-1.0460	8	0.27082	T	0.32	.	.	.	.	.	384	Q9BXX3	AN30A_HUMAN	T	328	ENSP00000354432:A328T;ENSP00000363792:A328T	ENSP00000354432:A328T	A	+	1	0	ANKRD30A	37470981	0.974000	0.33945	0.292000	0.24919	0.293000	0.27360	0.072000	0.14617	0.172000	0.19760	0.175000	0.17021	GCA		0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	72	0	0	0	1	0	5	72				
RIMS2	9699	broad.mit.edu	37	8	105261789	105261789	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr8:105261789G>T	ENST00000436393.2	+	26	3959	c.3718G>T	c.(3718-3720)Gta>Tta	p.V1240L	RIMS2_ENST00000507740.1_Missense_Mutation_p.V1036L|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1222L|RIMS2_ENST00000262231.10_Missense_Mutation_p.V1061L|RIMS2_ENST00000339750.2_Missense_Mutation_p.V158L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1284					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCCTTGTTGTAAAACCAGG	0.403										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3106-3108)Gta>Tta		regulating synaptic membrane exocytosis 2							68.0	69.0	68.0					8																	105261789		1832	4084	5916	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105261789G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3718G>T	8.37:g.105261789G>T	ENSP00000390665:p.Val1240Leu	HNSCC(12;0.0054)				RIMS2_ENST00000339750.2_Missense_Mutation_p.V158L|RIMS2_ENST00000262231.10_Missense_Mutation_p.V1061L|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1222L|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1240L	p.V1036L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		20	3342	+			1284					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3106G>T		.	.	.	.	.	.	.	.	.	.	G	19.86	3.905040	0.72868	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;1.03;-0.34;-0.34;-0.34	5.46	5.46	0.80206	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.65322	0.2680	N	0.21508	0.67	0.58432	D	0.999997	P;P;P;B;B	0.43826	0.818;0.771;0.65;0.341;0.341	P;P;P;B;B	0.50970	0.555;0.492;0.655;0.152;0.152	T	0.60495	-0.7252	9	0.23302	T	0.38	.	19.3153	0.94211	0.0:0.0:1.0:0.0	.	1284;1240;1061;1036;1222	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	1259;1222;1284;1061;1036;1229;1240;158;158	ENSP00000384892:V1222L;ENSP00000262231:V1061L;ENSP00000423559:V1036L;ENSP00000386228:V1229L;ENSP00000390665:V1240L;ENSP00000428478:V158L;ENSP00000342051:V158L	ENSP00000262231:V1061L	V	+	1	0	RIMS2	105330965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.032000	0.88838	2.583000	0.87209	0.555000	0.69702	GTA		0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		10	29	1	0	0.00829132	1	0.00829132	10	29				
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	C	T	rs570299277		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr1:228471427C>T	ENST00000422127.1	+	33	9005	c.8961C>T	c.(8959-8961)tgC>tgT	p.C2987C	OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000570156.2_Silent_p.C3416C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000359599.6_Silent_p.C1834C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2987	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		18280	0.001		0.0	False		,,,				2504	0.0					ENST00000570156.2																			2	Substitution - coding silent(2)	p.C3270C(1)|p.C3041C(1)	large_intestine(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10246-10248)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							47.0	54.0	51.0					1																	228471427		2071	4203	6274	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471427C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8961C>T	1.37:g.228471427C>T						OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000366709.4_Silent_p.C106C	p.C3416C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			38	10322	+		Prostate(94;0.0405)	2451			Ig-like 34.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10248C>T	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		32	77	0	0	0	1	0	32	77				
SLC25A39	51629	broad.mit.edu	37	17	42400907	42400907	+	Silent	SNP	G	G	A			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:42400907G>A	ENST00000377095.5	-	2	143	c.24C>T	c.(22-24)ggC>ggT	p.G8G	SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000225308.8_Silent_p.G8G|SLC25A39_ENST00000590194.1_Silent_p.G8G|SLC25A39_ENST00000537904.2_Silent_p.G8G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	8					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGGGGCTGATGCCCGCAGGGT	0.607																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(22-24)ggC>ggT		solute carrier family 25, member 39							17.0	17.0	17.0					17																	42400907		2197	4295	6492	SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42400907G>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.24C>T	17.37:g.42400907G>A						SLC25A39_ENST00000590194.1_Silent_p.G8G|SLC25A39_ENST00000537904.2_Silent_p.G8G|SLC25A39_ENST00000377095.5_Silent_p.G8G|SLC25A39_ENST00000586016.1_Intron	p.G8G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	2	198	-		Prostate(33;0.0233)	8					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.24C>T	CCDS45700.1																																																																																				0.607	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		4	4	0	0	0	1	0	4	4				
KCNS3	3790	broad.mit.edu	37	2	18112378	18112378	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr2:18112378C>T	ENST00000403915.1	+	3	554	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R35W	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	35					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACCCTCCTGCGGTTTCCTCA	0.512																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(103-105)Cgg>Tgg		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							107.0	103.0	104.0					2																	18112378		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112378C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.103C>T	2.37:g.18112378C>T	ENSP00000385968:p.Arg35Trp					KCNS3_ENST00000304101.4_Missense_Mutation_p.R35W|KCNS3_ENST00000465292.1_Intron	p.R35W			Q9BQ31	KCNS3_HUMAN			3	554	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		35					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.103C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787304	0.31593	.	.	ENSG00000170745	ENST00000403915;ENST00000304101;ENST00000419802	T;T;T	0.78707	0.79;0.79;-1.2	5.83	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052196	0.85682	N	0.000000	D	0.86255	0.5889	M	0.66560	2.04	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.87585	0.2487	10	0.87932	D	0	.	13.5598	0.61782	0.4014:0.5986:0.0:0.0	.	35	Q9BQ31	KCNS3_HUMAN	W	35	ENSP00000385968:R35W;ENSP00000305824:R35W;ENSP00000400098:R35W	ENSP00000305824:R35W	R	+	1	2	KCNS3	17975859	0.987000	0.35691	1.000000	0.80357	0.960000	0.62799	2.374000	0.44274	1.447000	0.47661	0.563000	0.77884	CGG		0.512	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		40	77	0	0	0	1	0	40	77				
RASGEF1C	255426	broad.mit.edu	37	5	179563505	179563505	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr5:179563505C>T	ENST00000393371.2	-	3	607	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R104Q|RASGEF1C_ENST00000522500.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	104	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGAACTTCCGGACCCGGGC	0.687																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(310-312)cGg>cAg		RasGEF domain family, member 1C							33.0	27.0	29.0					5																	179563505		2157	4237	6394	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179563505C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.311G>A	5.37:g.179563505C>T	ENSP00000377037:p.Arg104Gln					RASGEF1C_ENST00000522500.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R104Q	p.R104Q			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	607	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	104			N-terminal Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.311G>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010618	0.54361	.	.	ENSG00000146090	ENST00000361132;ENST00000393371	T;T	0.50277	0.75;0.75	4.66	3.79	0.43588	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.068430	0.64402	N	0.000015	T	0.38532	0.1044	L	0.46614	1.455	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.15723	-1.0427	10	0.17369	T	0.5	.	11.9611	0.53009	0.0:0.9132:0.0:0.0868	.	104	Q8N431	RGF1C_HUMAN	Q	104	ENSP00000354963:R104Q;ENSP00000377037:R104Q	ENSP00000354963:R104Q	R	-	2	0	RASGEF1C	179496111	1.000000	0.71417	0.975000	0.42487	0.816000	0.46133	4.251000	0.58778	1.089000	0.41292	0.511000	0.50034	CGG		0.687	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		5	7	0	0	0	1	0	5	7				
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.L62R(3)	lung(2)|central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(184-186)cTt>cGt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175.0	167.0	170.0					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R	p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	362	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		44	167	0	0	0	1	0	44	167				
SLC6A4	6532	broad.mit.edu	37	17	28537613	28537613	+	Missense_Mutation	SNP	C	C	T	rs190758123		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:28537613C>T	ENST00000401766.2	-	10	1881	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	457					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.V457I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TTGGCCCAGACGTGTGGGAAC	0.597													T|||	1	0.000199681	0.0	0.0	5008	,	,		17493	0.0		0.001	False		,,,				2504	0.0					ENST00000401766.2																			1	Substitution - Missense(1)	p.V457I(1)	endometrium(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1369-1371)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						107.0	99.0	101.0					17																	28537613		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28537613C>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1369G>A	17.37:g.28537613C>T	ENSP00000385822:p.Val457Ile					SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I	p.V457I			P31645	SC6A4_HUMAN			10	1881	-			457					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.1369G>A	CCDS11256.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	5.490	0.275360	0.10403	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.74421	-0.84;-0.84	6.04	2.64	0.31445	.	0.388763	0.31404	N	0.007709	T	0.47154	0.1430	N	0.12471	0.22	0.20196	N	0.999928	B	0.06786	0.001	B	0.10450	0.005	T	0.36163	-0.9759	10	0.02654	T	1	.	5.9617	0.19303	0.0:0.2858:0.1287:0.5855	.	457	P31645	SC6A4_HUMAN	I	499;457;457	ENSP00000385822:V457I;ENSP00000261707:V457I	ENSP00000261707:V457I	V	-	1	0	SLC6A4	25561739	0.000000	0.05858	0.887000	0.34795	0.916000	0.54674	-0.793000	0.04589	-0.045000	0.13468	-0.361000	0.07541	GTC		0.597	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		25	62	0	0	0	1	0	25	62				
SPEG	10290	broad.mit.edu	37	2	220313697	220313697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr2:220313697delA	ENST00000312358.7	+	4	1949	c.1817delA	c.(1816-1818)gagfs	p.E606fs	SPEG_ENST00000396698.1_Frame_Shift_Del_p.E502fs|SPEG_ENST00000396695.2_De_novo_Start_OutOfFrame|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	606	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCATCCAGGAGTGCAGGAGC	0.756																																						ENST00000396695.2																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100								SPEG complex locus							3.0	6.0	5.0					2																	220313697		1803	3872	5675	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220313697delA	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1817delA	2.37:g.220313697delA	ENSP00000311684:p.Glu606fs					SPEG_ENST00000312358.7_Frame_Shift_Del_p.E606fs|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.E502fs				Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	0	1342	+		Renal(207;0.0183)						A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Translation_Start_Site	DEL	ENST00000312358.7	37		CCDS42824.1																																																																																				0.756	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		2	4						2	4	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151859576	151859576	+	Frame_Shift_Del	DEL	G	G	-	rs199794270		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:151859576delG	ENST00000262189.6	-	43	11304	c.11086delC	c.(11086-11088)caafs	p.Q3697fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.Q3697fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3697					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TACGTCTGTTGATTTGGAGTT	0.468																																						ENST00000355193.2																			0											c.(11086-11088)aafs		lysine (K)-specific methyltransferase 2C							239.0	241.0	240.0					7																	151859576		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151859576delG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11086delC	7.37:g.151859576delG	ENSP00000262189:p.Gln3697fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.Q3697fs	p.Q3697fs							43	11304	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.11086delC	CCDS5931.1																																																																																				0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			112	234						112	234	---	---	---	---
ELMOD1	55531	broad.mit.edu	37	11	107521064	107521064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:107521064delT	ENST00000265840.7	+	8	823	c.558delT	c.(556-558)tatfs	p.Y186fs	ELMOD1_ENST00000531234.1_Frame_Shift_Del_p.Y180fs|ELMOD1_ENST00000443271.2_Frame_Shift_Del_p.Y186fs	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	186	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GCTGCAGGTATTTCGCGGAAA	0.413																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(556-558)tafs		ELMO/CED-12 domain containing 1							50.0	53.0	52.0					11																	107521064		1936	4154	6090	SO:0001589	frameshift_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107521064delT	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.558delT	11.37:g.107521064delT	ENSP00000265840:p.Tyr186fs					ELMOD1_ENST00000531234.1_Frame_Shift_Del_p.Y180fs|ELMOD1_ENST00000443271.2_Frame_Shift_Del_p.Y186fs	p.Y186fs	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	8	823	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	186			ELMO.		B4E167|G5E9S5|Q9NPW3	Frame_Shift_Del	DEL	ENST00000265840.7	37	c.558delT	CCDS44723.1																																																																																				0.413	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	38						7	38	---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79682008	79682008	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:79682008delT	ENST00000350690.5	+	2	205	c.119delT	c.(118-120)gtgfs	p.V40fs	SLC25A10_ENST00000545862.1_5'UTR|SLC25A10_ENST00000331531.5_Frame_Shift_Del_p.V40fs|SLC25A10_ENST00000541223.1_Frame_Shift_Del_p.V195fs|SLC25A10_ENST00000571730.1_Frame_Shift_Del_p.V195fs	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	40					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CAGCAGGAGGTGAAGCTGCGC	0.657																																						ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(118-120)ggfs		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						43.0	36.0	38.0					17																	79682008		2198	4299	6497	SO:0001589	frameshift_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682008delT		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.119delT	17.37:g.79682008delT	ENSP00000345580:p.Val40fs					SLC25A10_ENST00000350690.5_Frame_Shift_Del_p.V40fs|SLC25A10_ENST00000545862.1_5'UTR|SLC25A10_ENST00000541223.1_Frame_Shift_Del_p.V195fs|SLC25A10_ENST00000571730.1_Frame_Shift_Del_p.V195fs	p.V40fs	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		2	239	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		40					Q542Z3|Q96BA1|Q96IP1	Frame_Shift_Del	DEL	ENST00000350690.5	37	c.119delT	CCDS11786.1																																																																																				0.657	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			9	38						9	38	---	---	---	---
