#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GPR157	80045	broad.mit.edu	37	1	9171452	9171452	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:9171452G>A	ENST00000377411.4	-	2	622	c.480C>T	c.(478-480)gaC>gaT	p.D160D	GPR157_ENST00000414642.2_Silent_p.D160D	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D160D(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCCTCCAGGTCGATCCAGC	0.617											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377411.4																			1	Substitution - coding silent(1)	p.D160D(1)	prostate(1)	lung(4)|prostate(1)	5						c.(478-480)gaC>gaT		G protein-coupled receptor 157							118.0	102.0	107.0					1																	9171452		2203	4300	6503	SO:0001819	synonymous_variant	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9171452G>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.480C>T	1.37:g.9171452G>A			Somatic	OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	654	GPR157_ENST00000414642.2_Silent_p.D160D	p.D160D	NM_024980.4	NP_079256.4	WXS	Illumina GAIIx	Phase_I	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	2	622	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	160					A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	37	c.480C>T	CCDS100.2																																																																																				0.617	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		14	68	14	68	---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24080617	24080617	+	Missense_Mutation	SNP	A	A	C	rs144826294	byFrequency	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:24080617A>C	ENST00000418390.2	+	6	1914	c.1643A>C	c.(1642-1644)gAa>gCa	p.E548A	TCEB3_ENST00000609199.1_Missense_Mutation_p.E522A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.E522A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAAGAAGAAGAAGCTGGATTT	0.478													A|||	3	0.000599042	0.0023	0.0	5008	,	,		20871	0.0		0.0	False		,,,				2504	0.0					ENST00000418390.2																			1	Substitution - Missense(1)	p.E522A(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1642-1644)gAa>gCa		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)		A	ALA/GLU	6,4400	11.4+/-27.6	0,6,2197	110.0	101.0	104.0		1643	5.7	1.0	1	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TCEB3	NM_003198.2	107	0,8,6495	CC,CA,AA		0.0233,0.1362,0.0615	benign	548/799	24080617	8,12998	2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080617A>C	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1643A>C	1.37:g.24080617A>C	ENSP00000395574:p.Glu548Ala		Somatic				TCEB3_ENST00000609199.1_Missense_Mutation_p.E522A	p.E548A	NM_003198.2	NP_003189.2	WXS	Illumina GAIIx	Phase_I	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	6	1914	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	548			Activation domain (By similarity).		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.1643A>C	CCDS239.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	25.2	4.610673	0.87258	0.001362	2.33E-4	ENSG00000011007	ENST00000418390	T	0.07688	3.17	5.71	5.71	0.89125	.	0.090906	0.47455	D	0.000228	T	0.06325	0.0163	N	0.25060	0.705	0.51012	D	0.999908	P	0.52577	0.954	P	0.47206	0.541	T	0.08597	-1.0714	10	0.66056	D	0.02	-23.7417	11.9106	0.52737	0.8547:0.1453:0.0:0.0	.	548	Q14241	ELOA1_HUMAN	A	548	ENSP00000395574:E548A	ENSP00000395574:E548A	E	+	2	0	TCEB3	23953204	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.120000	0.64685	2.179000	0.69175	0.379000	0.24179	GAA		0.478	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		5	189	5	189	---	---	---	---
ETV3	2117	broad.mit.edu	37	1	157104014	157104014	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:157104014T>C	ENST00000368192.4	-	4	354	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	ETV3_ENST00000460850.1_5'Flank|ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	97					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y97C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CTTGTTGTAATAGTATCTGTA	0.368																																						ENST00000368192.4																			2	Substitution - Missense(2)	p.Y97C(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(289-291)tAt>tGt		ets variant 3							154.0	127.0	136.0					1																	157104014		2203	4300	6503	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157104014T>C	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.290A>G	1.37:g.157104014T>C	ENSP00000357175:p.Tyr97Cys		Somatic				ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	p.Y97C	NM_001145312.1	NP_001138784.1	WXS	Illumina GAIIx	Phase_I	P41162	ETV3_HUMAN			4	354	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	97					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.290A>G	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467197	0.84533	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.45668	0.89;0.89	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000009	T	0.63094	0.2482	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70292	-0.4912	10	0.87932	D	0	.	15.598	0.76602	0.0:0.0:0.0:1.0	.	97;97	P41162-2;P41162	.;ETV3_HUMAN	C	97	ENSP00000357175:Y97C;ENSP00000327316:Y97C	ENSP00000327316:Y97C	Y	-	2	0	ETV3	155370638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.987000	0.88182	2.315000	0.78130	0.533000	0.62120	TAT		0.368	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		9	90	9	90	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181727100	181727100	+	Silent	SNP	C	C	T	rs368943151		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:181727100C>T	ENST00000367573.2	+	31	4347	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F	CACNA1E_ENST00000526775.1_Silent_p.F1430F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367567.4_Silent_p.F1056F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1449					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F1449F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATCGACTTCGCCATCAGCG	0.522																																						ENST00000526775.1																			1	Substitution - coding silent(1)	p.F1449F(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4288-4290)ttC>ttT		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	,,	2,4266		0,2,2132	143.0	149.0	147.0		4347,4347,4290	-1.9	1.0	1		147	0,8472		0,0,4236	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	,,	0,2,6368	TT,TC,CC		0.0,0.0469,0.0157	,,	1449/2271,1449/2314,1430/2252	181727100	2,12738	2134	4236	6370	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727100C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4347C>T	1.37:g.181727100C>T			Somatic				CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000357570.5_Silent_p.F1400F	p.F1430F	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			30	4455	+			1449					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4290C>T	CCDS55664.1																																																																																				0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		14	122	14	122	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241946665	241946665	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:241946665C>G	ENST00000366552.2	+	22	2864	c.2657C>G	c.(2656-2658)tCc>tGc	p.S886C	WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	886								p.S886C(1)|p.S439C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTACTGCCTCCATCGATGGC	0.393																																						ENST00000366552.2																			2	Substitution - Missense(2)	p.S886C(1)|p.S439C(1)	prostate(2)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2656-2658)tCc>tGc		WD repeat domain 64							68.0	66.0	66.0					1																	241946665		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241946665C>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2657C>G	1.37:g.241946665C>G	ENSP00000355510:p.Ser886Cys		Somatic				WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	p.S886C	NM_144625.4	NP_653226.4	WXS	Illumina GAIIx	Phase_I	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		22	2864	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	886					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.2657C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.956251|2.956251	0.53293|0.53293	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.55234	.|1.92;0.53;4.64	5.82|5.82	5.82|5.82	0.92795|0.92795	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.76190|0.76190	0.3953|0.3953	M|M	0.84948|0.84948	2.725|2.725	0.28784|0.28784	N|N	0.899676|0.899676	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.986	T|T	0.73914|0.73914	-0.3832|-0.3832	5|10	.|0.72032	.|D	.|0.01	-14.7717|-14.7717	17.0121|17.0121	0.86409|0.86409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|886;439	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	A|C	365|886;719;490	.|ENSP00000355510:S886C;ENSP00000402446:S719C;ENSP00000406656:S490C	.|ENSP00000355510:S886C	P|S	+|+	1|2	0|0	WDR64|WDR64	240013288|240013288	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.331000|0.331000	0.28603|0.28603	4.311000|4.311000	0.59147|0.59147	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		4	82	4	82	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20458017	20458017	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:20458017G>T	ENST00000361078.2	-	15	2493	c.2471C>A	c.(2470-2472)tCt>tAt	p.S824Y	PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	824	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.S824Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCAGAAGAAATAGATTC	0.328																																						ENST00000361078.2																			1	Substitution - Missense(1)	p.S824Y(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2470-2472)tCt>tAt		pumilio RNA-binding family member 2							52.0	51.0	51.0					2																	20458017		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20458017G>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2471C>A	2.37:g.20458017G>T	ENSP00000354370:p.Ser824Tyr		Somatic				PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y	p.S824Y			WXS	Illumina GAIIx	Phase_I	Q8TB72	PUM2_HUMAN			15	2493	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		824			PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2471C>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.990746	0.93106	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.16196	2.4;2.36;2.43;2.4;2.4;2.4	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.062950	0.64402	D	0.000002	T	0.41190	0.1148	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.994;0.999	D;D;P;D	0.68353	0.91;0.943;0.749;0.957	T	0.05582	-1.0876	10	0.72032	D	0.01	-3.9839	20.3626	0.98863	0.0:0.0:1.0:0.0	.	768;745;824;824	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	Y	824;824;745;636;824;768	ENSP00000338173:S824Y;ENSP00000354370:S824Y;ENSP00000326746:S745Y;ENSP00000409905:S636Y;ENSP00000385992:S824Y;ENSP00000440093:S768Y	ENSP00000326746:S745Y	S	-	2	0	PUM2	20321498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.792000	0.99085	2.885000	0.99019	0.655000	0.94253	TCT		0.328	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		20	57	20	57	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125521376	125521376	+	Splice_Site	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:125521376C>T	ENST00000431078.1	+	15	2723	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	787	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R787*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATGGTGACCGTGAGTACAA	0.458																																						ENST00000431078.1																			2	Substitution - Nonsense(2)	p.R787*(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2359-2361)Cga>Tga		contactin associated protein-like 5							77.0	74.0	75.0					2																	125521376		1925	4128	6053	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521376C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2359+1C>T	2.37:g.125521376C>T			Somatic					p.R787*	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	15	2723	+			787			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	c.2359C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	43	10.478080	0.99412	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.57	2.51	0.30379	.	0.000000	0.41938	D	0.000791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3034	0.60338	0.5999:0.4001:0.0:0.0	.	.	.	.	X	787	.	ENSP00000399013:R787X	R	+	1	2	CNTNAP5	125237846	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.036000	0.49767	0.780000	0.33566	0.655000	0.94253	CGA		0.458	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Nonsense_Mutation	11	56	11	56	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9969889	9969889	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:9969889T>A	ENST00000295981.3	+	10	1293	c.1075T>A	c.(1075-1077)Tgc>Agc	p.C359S	IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	359					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.C359S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGAACATCTGCCCCTTCAG	0.637																																						ENST00000295981.3																			1	Substitution - Missense(1)	p.C359S(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1075-1077)Tgc>Agc		interleukin 17 receptor C							103.0	100.0	101.0					3																	9969889		2203	4300	6503	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9969889T>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1075T>A	3.37:g.9969889T>A	ENSP00000295981:p.Cys359Ser		Somatic				IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000498214.1_3'UTR	p.C359S	NM_153461.3	NP_703191	WXS	Illumina GAIIx	Phase_I	Q8NAC3	I17RC_HUMAN			10	1293	+			359					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1075T>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841329	0.51057	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.5	4.31	0.51392	.	0.128230	0.52532	D	0.000078	T	0.60287	0.2257	M	0.70275	2.135	0.34404	D	0.695652	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.997;0.997;0.999;0.999;0.998;0.979;0.999	D;D;D;D;D;D;D;P;D	0.76575	0.943;0.969;0.915;0.915;0.94;0.94;0.961;0.747;0.988	T	0.72083	-0.4397	10	0.87932	D	0	-18.1608	9.6797	0.40063	0.0:0.0:0.175:0.825	.	273;144;273;288;288;288;273;359;288	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	S	273;248;359;263;288;144;273;288	ENSP00000373323:C273S;ENSP00000414609:C248S;ENSP00000295981:C359S;ENSP00000401128:C263S;ENSP00000384969:C288S;ENSP00000395315:C144S;ENSP00000407894:C273S;ENSP00000396064:C288S	ENSP00000295981:C359S	C	+	1	0	IL17RC	9944889	0.996000	0.38824	0.738000	0.30950	0.440000	0.31957	3.797000	0.55514	0.986000	0.38683	0.374000	0.22700	TGC		0.637	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		12	166	12	166	---	---	---	---
CCDC174	51244	broad.mit.edu	37	3	14703060	14703060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:14703060C>T	ENST00000383794.3	+	5	404	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	111						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L111F(1)									GGATATGTACCTTGTGGATTT	0.408																																						ENST00000383794.3																			1	Substitution - Missense(1)	p.L111F(1)	prostate(1)								c.(331-333)Ctt>Ttt		coiled-coil domain containing 174							138.0	134.0	135.0					3																	14703060		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14703060C>T	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.331C>T	3.37:g.14703060C>T	ENSP00000373304:p.Leu111Phe		Somatic				CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	p.L111F	NM_016474.4	NP_057558.3	WXS	Illumina GAIIx	Phase_I					5	404	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.331C>T	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326458	0.81690	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.59364	0.27;0.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84520	0.0627	10	0.66056	D	0.02	-26.9933	18.5057	0.90896	0.0:1.0:0.0:0.0	.	111	Q6PII3	CC019_HUMAN	F	111;111;16	ENSP00000373304:L111F;ENSP00000302344:L111F	ENSP00000285042:L16F	L	+	1	0	C3orf19	14678064	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.243000	0.58721	2.660000	0.90430	0.467000	0.42956	CTT		0.408	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		5	180	5	180	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108818255	108818255	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:108818255T>C	ENST00000483760.1	-	6	416	c.373A>G	c.(373-375)Acc>Gcc	p.T125A	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.T125A					MORC family CW-type zinc finger 1									p.T125A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACACACAGGTCATCGTTTCT	0.343																																						ENST00000232603.5																			1	Substitution - Missense(1)	p.T125A(1)	prostate(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(373-375)Acc>Gcc		MORC family CW-type zinc finger 1							126.0	126.0	126.0					3																	108818255		2201	4299	6500	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108818255T>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.373A>G	3.37:g.108818255T>C	ENSP00000417282:p.Thr125Ala		Somatic				MORC1_ENST00000483760.1_Missense_Mutation_p.T125A	p.T125A	NM_014429.3	NP_055244.3	WXS	Illumina GAIIx	Phase_I	Q86VD1	MORC1_HUMAN			6	455	-			125						Missense_Mutation	SNP	ENST00000483760.1	37	c.373A>G		.	.	.	.	.	.	.	.	.	.	T	18.47	3.630087	0.67015	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95103	-3.61;-3.61	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (2);	0.000000	0.50627	D	0.000108	D	0.95875	0.8657	M	0.70595	2.14	0.45852	D	0.99871	P;P	0.45715	0.865;0.831	P;P	0.57244	0.681;0.816	D	0.95411	0.8498	10	0.46703	T	0.11	-12.9608	12.5723	0.56344	0.0:0.0:0.0:1.0	.	125;125	E7ERX1;Q86VD1	.;MORC1_HUMAN	A	125	ENSP00000232603:T125A;ENSP00000417282:T125A	ENSP00000232603:T125A	T	-	1	0	MORC1	110300945	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.801000	0.75170	2.135000	0.66039	0.454000	0.30748	ACC		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			12	115	12	115	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192517393	192517393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:192517393G>T	ENST00000392452.2	-	2	578	c.258C>A	c.(256-258)taC>taA	p.Y86*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	86							protein complex binding (GO:0032403)	p.Y84*(1)|p.Y86*(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGAGCAACAGGTATTCATTAG	0.453																																						ENST00000392452.2																			2	Substitution - Nonsense(2)	p.Y84*(1)|p.Y86*(1)	prostate(2)	endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(256-258)taC>taA		Mab-21 domain containing 2							45.0	42.0	43.0					3																	192517393		2203	4300	6503	SO:0001587	stop_gained	151963							g.chr3:192517393G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.258C>A	3.37:g.192517393G>T	ENSP00000376246:p.Tyr86*		Somatic					p.Y86*	NM_178496.3	NP_848591.2	WXS	Illumina GAIIx	Phase_I	Q8IYB1	M21D2_HUMAN			2	578	-			86					Q86VD8	Nonsense_Mutation	SNP	ENST00000392452.2	37	c.258C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	38	6.742174	0.97805	.	.	ENSG00000180611	ENST00000392452	.	.	.	5.94	3.17	0.36434	.	0.123857	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0435	0.30536	0.3092:0.0:0.6908:0.0	.	.	.	.	X	86	.	ENSP00000376246:Y86X	Y	-	3	2	MB21D2	194000087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.012000	0.40932	0.836000	0.34901	0.650000	0.86243	TAC		0.453	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		9	59	9	59	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19503127	19503127	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:19503127G>A	ENST00000507958.1	-	13	2594	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L			Q13634	CAD18_HUMAN	cadherin 18, type 2	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P535L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGAAGTTTGGATTTACAGG	0.348																																						ENST00000507958.1																			2	Substitution - Missense(2)	p.P535L(2)	prostate(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1603-1605)cCa>cTa		cadherin 18, type 2							117.0	109.0	112.0					5																	19503127		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19503127G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1604C>T	5.37:g.19503127G>A	ENSP00000425093:p.Pro535Leu		Somatic				CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L	p.P535L			WXS	Illumina GAIIx	Phase_I	Q13634	CAD18_HUMAN			13	2594	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		535			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1604C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123153	0.77436	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;2.08;2.08;2.08	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.39020	1.185	0.80722	D	1	D;B	0.67145	0.996;0.055	P;B	0.61070	0.883;0.075	T	0.51442	-0.8705	9	.	.	.	.	17.6105	0.88051	0.0:0.0:1.0:0.0	.	535;535	B4DHG6;Q13634	.;CAD18_HUMAN	L	535	ENSP00000371710:P535L;ENSP00000425093:P535L;ENSP00000274170:P535L;ENSP00000424931:P535L;ENSP00000422138:P535L;ENSP00000425854:P535L	.	P	-	2	0	CDH18	19538884	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.347000	0.90062	2.573000	0.86826	0.650000	0.86243	CCA		0.348	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		13	121	13	121	---	---	---	---
HSPB3	8988	broad.mit.edu	37	5	53752034	53752034	+	Silent	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:53752034T>C	ENST00000302005.1	+	1	590	c.415T>C	c.(415-417)Ttg>Ctg	p.L139L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	139					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L139L(2)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGATGGAATTTTGGTGGTGGA	0.458																																						ENST00000302005.1																			2	Substitution - coding silent(2)	p.L139L(2)	prostate(2)	breast(1)|large_intestine(4)|prostate(3)	8						c.(415-417)Ttg>Ctg		heat shock 27kDa protein 3							120.0	114.0	116.0					5																	53752034		2203	4300	6503	SO:0001819	synonymous_variant	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53752034T>C	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.415T>C	5.37:g.53752034T>C			Somatic					p.L139L	NM_006308.2	NP_006299.1	WXS	Illumina GAIIx	Phase_I	Q12988	HSPB3_HUMAN			1	590	+		Lung NSC(810;0.00104)	139						Silent	SNP	ENST00000302005.1	37	c.415T>C	CCDS3961.1																																																																																				0.458	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			5	204	5	204	---	---	---	---
ANKRD55	79722	broad.mit.edu	37	5	55472069	55472069	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:55472069C>T	ENST00000341048.4	-	4	373	c.222G>A	c.(220-222)gcG>gcA	p.A74A	ANKRD55_ENST00000504958.2_Silent_p.A74A|ANKRD55_ENST00000513241.2_Silent_p.A45A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	74								p.A74A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGTGTCCGCTTGACGTC	0.493																																						ENST00000341048.4																			1	Substitution - coding silent(1)	p.A74A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(220-222)gcG>gcA		ankyrin repeat domain 55							175.0	148.0	157.0					5																	55472069		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55472069C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.222G>A	5.37:g.55472069C>T			Somatic				ANKRD55_ENST00000504958.2_Silent_p.A74A|ANKRD55_ENST00000513241.2_Silent_p.A45A	p.A74A	NM_024669.2	NP_078945.2	WXS	Illumina GAIIx	Phase_I	Q3KP44	ANR55_HUMAN			4	373	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	73					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.222G>A	CCDS34161.1																																																																																				0.493	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		5	206	5	206	---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250899	140250899	+	Silent	SNP	G	G	A	rs199741530		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140250899G>A	ENST00000398640.2	+	1	2211	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	737	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T737T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCCACGCTGGTGTGCT	0.687													.|||	1	0.000199681	0.0	0.0	5008	,	,		14445	0.001		0.0	False		,,,				2504	0.0					ENST00000398640.2																			1	Substitution - coding silent(1)	p.T737T(1)	prostate(1)	breast(1)|lung(1)	2						c.(2209-2211)acG>acA									31.0	33.0	32.0					5																	140250899		2203	4300	6503	SO:0001819	synonymous_variant	56138							g.chr5:140250899G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2211G>A	5.37:g.140250899G>A			Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.T737T	NM_018902.3	NP_061725.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2211	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.2211G>A	CCDS47284.1																																																																																				0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		4	29	4	29	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588556	140588556	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140588556C>T	ENST00000239450.2	+	1	266	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	26					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A26V(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTCTCAGGCGGGCTCTGAA	0.498																																						ENST00000239450.2																			2	Substitution - Missense(2)	p.A26V(2)	prostate(1)|endometrium(1)	NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(76-78)gCg>gTg									101.0	105.0	103.0					5																	140588556		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588556C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.77C>T	5.37:g.140588556C>T	ENSP00000239450:p.Ala26Val		Somatic				PCDHB12_ENST00000541609.1_Intron	p.A26V	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	266	+			26					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.77C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129551	0.01756	.	.	ENSG00000120328	ENST00000239450	T	0.50277	0.75	4.15	-0.23	0.13090	.	.	.	.	.	T	0.29458	0.0734	L	0.43152	1.355	0.09310	N	1	P	0.36633	0.562	B	0.27608	0.081	T	0.10823	-1.0613	9	0.30078	T	0.28	.	4.5049	0.11883	0.0:0.394:0.3041:0.3019	.	26	Q9Y5F1	PCDBC_HUMAN	V	26	ENSP00000239450:A26V	ENSP00000239450:A26V	A	+	2	0	PCDHB12	140568740	0.000000	0.05858	0.001000	0.08648	0.274000	0.26718	-0.071000	0.11505	-0.041000	0.13558	-0.367000	0.07326	GCG		0.498	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		4	142	4	142	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140794640	140794640	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140794640C>T	ENST00000398610.2	+	1	1898	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A633V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.692																																						ENST00000398610.2																			1	Substitution - Missense(1)	p.A633V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1897-1899)gCg>gTg									45.0	54.0	51.0					5																	140794640		2203	4296	6499	SO:0001583	missense	56106							g.chr5:140794640C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1898C>T	5.37:g.140794640C>T	ENSP00000381611:p.Ala633Val		Somatic				PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.A633V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1898	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1898C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	6.944	0.544018	0.13312	.	.	ENSG00000253846	ENST00000398610	T	0.51071	0.72	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40862	0.1134	L	0.31526	0.94	0.09310	N	1	P;B	0.42078	0.77;0.355	B;B	0.38378	0.244;0.272	T	0.37174	-0.9717	9	0.42905	T	0.14	.	18.8436	0.92194	0.0:1.0:0.0:0.0	.	633;633	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	633	ENSP00000381611:A633V	ENSP00000381611:A633V	A	+	2	0	PCDHGA10	140774824	0.000000	0.05858	0.035000	0.18076	0.074000	0.17049	0.650000	0.24858	2.548000	0.85928	0.556000	0.70494	GCG		0.692	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		29	59	29	59	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32021196	32021196	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:32021196G>A	ENST00000375244.3	-	25	8961	c.8760C>T	c.(8758-8760)cgC>cgT	p.R2920R	TNXB_ENST00000375247.2_Silent_p.R2918R			P22105	TENX_HUMAN	tenascin XB	2967	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R2996R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCCCACGCGCTGGCCAC	0.632																																						ENST00000375244.3																			1	Substitution - coding silent(1)	p.R2996R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8758-8760)cgC>cgT		tenascin XB							39.0	40.0	40.0					6																	32021196		1229	2540	3769	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32021196G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8760C>T	6.37:g.32021196G>A			Somatic				TNXB_ENST00000375247.2_Silent_p.R2918R	p.R2920R			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			25	8961	-			2967			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8760C>T																																																																																					0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	15	5	15	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90382073	90382073	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:90382073T>C	ENST00000369393.3	-	82	13755	c.13640A>G	c.(13639-13641)gAg>gGg	p.E4547G	MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4547					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E4547G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCAGTCTCTCAAAGCCTGC	0.398																																						ENST00000369393.3																			1	Substitution - Missense(1)	p.E4547G(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(13639-13641)gAg>gGg		MDN1, midasin homolog (yeast)							97.0	91.0	93.0					6																	90382073		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90382073T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13640A>G	6.37:g.90382073T>C	ENSP00000358400:p.Glu4547Gly		Somatic				MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G|MDN1_ENST00000468568.1_5'UTR	p.E4547G			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	82	13755	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4547					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13640A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581477	0.46006	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.32023	1.47;1.47	6.06	6.06	0.98353	.	0.132302	0.51477	D	0.000097	T	0.16214	0.0390	L	0.59436	1.845	0.34587	D	0.715134	P	0.39665	0.682	B	0.30401	0.115	T	0.10870	-1.0611	10	0.28530	T	0.3	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	4547	Q9NU22	MDN1_HUMAN	G	4547	ENSP00000358400:E4547G;ENSP00000413970:E4547G	ENSP00000358400:E4547G	E	-	2	0	MDN1	90438794	0.900000	0.30661	1.000000	0.80357	0.850000	0.48378	3.096000	0.50243	2.324000	0.78689	0.533000	0.62120	GAG		0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	139	3	139	---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23164685	23164685	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:23164685C>G	ENST00000339077.5	+	4	579	c.336C>G	c.(334-336)aaC>aaG	p.N112K	KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	112					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.N90K(1)|p.N112K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAATAGCAACAATGTTCAGT	0.328																																						ENST00000339077.5																			2	Substitution - Missense(2)	p.N90K(1)|p.N112K(1)	prostate(2)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(334-336)aaC>aaG		kelch-like family member 7							84.0	85.0	85.0					7																	23164685		2202	4300	6502	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23164685C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.336C>G	7.37:g.23164685C>G	ENSP00000343273:p.Asn112Lys		Somatic				KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000479288.1_Intron	p.N112K	NM_001031710.2	NP_001026880.2	WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			4	579	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.336C>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915097	0.33815	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.78	4.88	0.63580	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.039463	0.85682	D	0.000000	T	0.50411	0.1614	N	0.05050	-0.12	0.80722	D	1	D;B;B;P;D	0.55605	0.972;0.001;0.001;0.952;0.972	P;B;B;B;P	0.53912	0.673;0.003;0.001;0.419;0.737	T	0.45264	-0.9273	10	0.21540	T	0.41	.	13.3329	0.60500	0.0:0.8814:0.0:0.1186	.	90;112;90;112;90	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	K	90;112;112;36;64;90;90;90	ENSP00000322958:N90K;ENSP00000343273:N112K;ENSP00000323270:N112K;ENSP00000441136:N36K;ENSP00000386263:N64K;ENSP00000386999:N90K;ENSP00000446445:N90K;ENSP00000442366:N90K	ENSP00000322958:N90K	N	+	3	2	KLHL7	23131210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.669000	0.37492	2.894000	0.99253	0.655000	0.94253	AAC		0.328	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		8	97	8	97	---	---	---	---
KIAA0895	23366	broad.mit.edu	37	7	36423479	36423479	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:36423479A>G	ENST00000297063.6	-	2	217	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	56								p.F56S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGTAGAGAACTTGAGTTT	0.358																																						ENST00000297063.6																			1	Substitution - Missense(1)	p.F56S(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(166-168)tTc>tCc		KIAA0895							127.0	118.0	121.0					7																	36423479		1819	4082	5901	SO:0001583	missense	23366							g.chr7:36423479A>G	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.167T>C	7.37:g.36423479A>G	ENSP00000297063:p.Phe56Ser		Somatic					p.F56S	NM_001100425.1	NP_001093895.1	WXS	Illumina GAIIx	Phase_I	Q8NCT3	K0895_HUMAN			2	217	-			56					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.167T>C	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.437375	0.25900	.	.	ENSG00000164542	ENST00000297063;ENST00000429651	.	.	.	4.05	0.115	0.14643	.	.	.	.	.	T	0.25044	0.0608	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19712	-1.0297	8	0.51188	T	0.08	-15.9017	4.7014	0.12828	0.5087:0.3858:0.1055:0.0	.	56	Q8NCT3	K0895_HUMAN	S	56	.	ENSP00000297063:F56S	F	-	2	0	KIAA0895	36390004	0.991000	0.36638	0.017000	0.16124	0.945000	0.59286	0.640000	0.24705	0.025000	0.15241	0.459000	0.35465	TTC		0.358	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		6	78	6	78	---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23538928	23538928	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:23538928A>G	ENST00000380871.4	-	2	548	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	171					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.W171R(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TTCTGGAACCATATCTTCACT	0.562																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.W171R(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(511-513)Tgg>Cgg		NK3 homeobox 1							185.0	182.0	183.0					8																	23538928		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538928A>G		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.511T>C	8.37:g.23538928A>G	ENSP00000370253:p.Trp171Arg		Somatic				NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	p.W171R	NM_006167.3	NP_006158.2	WXS	Illumina GAIIx	Phase_I	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	548	-		Prostate(55;0.114)	171					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.511T>C	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429596	0.83776	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.99822	-6.94;-6.94	5.66	5.66	0.87406	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99919	0.9962	H	0.99933	4.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95973	0.8971	10	0.87932	D	0	.	14.1488	0.65367	1.0:0.0:0.0:0.0	.	171	Q99801	NKX31_HUMAN	R	171;127;96	ENSP00000370253:W171R;ENSP00000429729:W96R	ENSP00000300332:W127R	W	-	1	0	NKX3-1	23594873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.285000	0.76669	0.533000	0.62120	TGG		0.562	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			15	248	15	248	---	---	---	---
RAD21	5885	broad.mit.edu	37	8	117878924	117878924	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:117878924G>A	ENST00000297338.2	-	2	332	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	15					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A15A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCCAAATTTTGGCCAGAGGCC	0.433																																						ENST00000297338.2																			1	Substitution - coding silent(1)	p.A15A(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(43-45)gcC>gcT		RAD21 homolog (S. pombe)							46.0	46.0	46.0					8																	117878924		2203	4299	6502	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117878924G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.45C>T	8.37:g.117878924G>A			Somatic				RAD21_ENST00000523547.1_5'UTR	p.A15A	NM_006265.2	NP_006256.1	WXS	Illumina GAIIx	Phase_I	O60216	RAD21_HUMAN			2	332	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		15					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.45C>T	CCDS6321.1																																																																																				0.433	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		3	85	3	85	---	---	---	---
FCN1	2219	broad.mit.edu	37	9	137803057	137803057	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:137803057T>C	ENST00000371806.3	-	8	746	c.655A>G	c.(655-657)Aag>Gag	p.K219E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	219	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.K219E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GATTTGTACTTAGCAAACTGG	0.527																																						ENST00000371806.3																			1	Substitution - Missense(1)	p.K219E(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(655-657)Aag>Gag		ficolin (collagen/fibrinogen domain containing) 1							245.0	234.0	238.0					9																	137803057		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137803057T>C	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.655A>G	9.37:g.137803057T>C	ENSP00000360871:p.Lys219Glu		Somatic					p.K219E	NM_002003.3	NP_001994.2	WXS	Illumina GAIIx	Phase_I	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	746	-		Myeloproliferative disorder(178;0.0333)	219			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.655A>G	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	T	9.810	1.182846	0.21870	.	.	ENSG00000085265	ENST00000371806	T	0.76448	-1.02	3.4	2.23	0.28157	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.69913	0.3164	L	0.41710	1.295	0.34737	D	0.730334	P	0.34909	0.475	P	0.44561	0.453	T	0.67142	-0.5745	9	0.29301	T	0.29	.	2.9921	0.05987	0.2124:0.1216:0.0:0.666	.	219	O00602	FCN1_HUMAN	E	219	ENSP00000360871:K219E	ENSP00000360871:K219E	K	-	1	0	FCN1	136942878	1.000000	0.71417	0.925000	0.36789	0.001000	0.01503	1.972000	0.40540	0.500000	0.27991	-0.463000	0.05309	AAG		0.527	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		10	434	10	434	---	---	---	---
LHX3	8022	broad.mit.edu	37	9	139090531	139090531	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:139090531C>T	ENST00000371748.5	-	5	838	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	LHX3_ENST00000371746.3_Missense_Mutation_p.G253R	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	248					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G253R(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGTCCTGCCCCTCCTGAACG	0.711																																						ENST00000371746.3																			1	Substitution - Missense(1)	p.G253R(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(757-759)Ggg>Agg		LIM homeobox 3							16.0	16.0	16.0					9																	139090531		2196	4291	6487	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090531C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.742G>A	9.37:g.139090531C>T	ENSP00000360813:p.Gly248Arg		Somatic				LHX3_ENST00000371748.5_Missense_Mutation_p.G248R	p.G253R	NM_014564.3	NP_055379.1	WXS	Illumina GAIIx	Phase_I	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	5	875	-		Myeloproliferative disorder(178;0.0511)	248					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.757G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731248	0.69189	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.89746	-2.4;-2.56	3.28	3.28	0.37604	.	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	L	0.51422	1.61	0.80722	D	1	D;P	0.56968	0.978;0.556	P;B	0.58266	0.836;0.14	D	0.88096	0.2816	10	0.26408	T	0.33	.	14.0485	0.64719	0.0:1.0:0.0:0.0	.	248;253	Q9UBR4;F1T0D9	LHX3_HUMAN;.	R	248;253;251	ENSP00000360813:G248R;ENSP00000360811:G253R	ENSP00000319224:G251R	G	-	1	0	LHX3	138230352	0.982000	0.34865	0.999000	0.59377	0.907000	0.53573	2.649000	0.46656	1.832000	0.53329	0.555000	0.69702	GGG		0.711	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			9	15	9	15	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21596534	21596534	+	Missense_Mutation	SNP	G	G	T	rs370198210		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:21596534G>T	ENST00000357134.5	+	20	2551	c.2399G>T	c.(2398-2400)tGt>tTt	p.C800F	NELL1_ENST00000298925.5_Missense_Mutation_p.C828F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	800					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.C800F(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGTCTGTTGTTCTGTGGAT	0.358																																						ENST00000298925.5																			1	Substitution - Missense(1)	p.C800F(1)	prostate(1)	NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2482-2484)tGt>tTt		NEL-like 1 (chicken)		G	PHE/CYS,PHE/CYS	0,4406		0,0,2203	186.0	168.0	174.0		2399,2258	6.2	1.0	11		174	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	205,205	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	800/811,753/764	21596534	1,13005	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21596534G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2399G>T	11.37:g.21596534G>T	ENSP00000349654:p.Cys800Phe		Somatic				NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F	p.C828F			WXS	Illumina GAIIx	Phase_I	Q92832	NELL1_HUMAN			21	2636	+			800					B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2483G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304783	0.81247	0.0	1.16E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80994	-1.43;-1.44;-1.32;-1.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.996;0.998;1.0;0.996	D;P;D;D;P	0.97110	0.93;0.853;0.921;1.0;0.853	D	0.89891	0.4037	10	0.87932	D	0	-12.8009	20.8794	0.99867	0.0:0.0:1.0:0.0	.	743;828;345;753;800	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	F	828;800;743;753	ENSP00000298925:C828F;ENSP00000349654:C800F;ENSP00000317837:C743F;ENSP00000437170:C753F	ENSP00000298925:C828F	C	+	2	0	NELL1	21553110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.916000	0.92745	2.941000	0.99782	0.655000	0.94253	TGT		0.358	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		3	87	3	87	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47345221	47345221	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:47345221G>C	ENST00000311027.5	+	31	4542		c.e31-1		MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.?(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CACTTCTCCAGGTGTGCGATG	0.542																																						ENST00000342922.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.e28-1		MAP-kinase activating death domain							177.0	129.0	145.0					11																	47345221		2201	4298	6499	SO:0001630	splice_region_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47345221G>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4378-1G>C	11.37:g.47345221G>C			Somatic				MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000402192.2_Splice_Site		NM_130470.2	NP_569826.2	WXS	Illumina GAIIx	Phase_I	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	28	4557	+									Splice_Site	SNP	ENST00000311027.5	37		CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695000	0.68386	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.903	0.96995	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MADD	47301797	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.947000	0.93000	2.705000	0.92388	0.549000	0.68633	.		0.542	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		Intron	3	97	3	97	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798258	55798258	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:55798258C>T	ENST00000313555.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(3)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGCTTATGACCGCTATGCAGC	0.458																																						ENST00000313555.1																			3	Substitution - Missense(3)	p.R122C(3)	prostate(1)|lung(1)|endometrium(1)	endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(364-366)Cgc>Tgc		olfactory receptor, family 5, subfamily AS, member 1							131.0	107.0	115.0					11																	55798258		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798258C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.364C>T	11.37:g.55798258C>T	ENSP00000324111:p.Arg122Cys		Somatic					p.R122C	NM_001001921.1	NP_001001921.1	WXS	Illumina GAIIx	Phase_I	Q8N127	O5AS1_HUMAN			1	364	+	Esophageal squamous(21;0.00693)		122		R -> L (in dbSNP:rs12224086).			Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.364C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639971	0.29157	.	.	ENSG00000181785	ENST00000313555	T	0.77358	-1.09	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.224065	0.22821	U	0.055229	T	0.77772	0.4180	M	0.79123	2.44	0.43471	D	0.995682	B	0.33135	0.399	B	0.23275	0.045	T	0.79867	-0.1622	10	0.72032	D	0.01	.	17.8641	0.88791	0.0:1.0:0.0:0.0	.	122	Q8N127	O5AS1_HUMAN	C	122	ENSP00000324111:R122C	ENSP00000324111:R122C	R	+	1	0	OR5AS1	55554834	0.508000	0.26154	1.000000	0.80357	0.157000	0.22087	0.829000	0.27449	2.557000	0.86248	0.643000	0.83706	CGC		0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		11	127	11	127	---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64939787	64939787	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:64939787G>A	ENST00000377185.2	+	4	411	c.329G>A	c.(328-330)aGc>aAc	p.S110N	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.S110N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACCCACAGCAGCCTGTTCTTG	0.612																																						ENST00000377185.2																			1	Substitution - Missense(1)	p.S110N(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(328-330)aGc>aAc		speedy/RINGO cell cycle regulator family member C							87.0	82.0	83.0					11																	64939787		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939787G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.329G>A	11.37:g.64939787G>A	ENSP00000366390:p.Ser110Asn		Somatic					p.S110N	NM_001008778.1	NP_001008778.1	WXS	Illumina GAIIx	Phase_I	Q5MJ68	SPDYC_HUMAN			4	411	+			110			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.329G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	0.904	-0.721339	0.03182	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.17	-2.39	0.06602	.	0.125508	0.31347	N	0.007806	T	0.03783	0.0107	N	0.00044	-2.455	0.23210	N	0.998117	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.02654	T	1	.	9.3647	0.38217	0.5459:0.0:0.4541:0.0	.	110	Q5MJ68	SPDYC_HUMAN	N	110	.	ENSP00000366390:S110N	S	+	2	0	SPDYC	64696363	0.989000	0.36119	0.002000	0.10522	0.948000	0.59901	2.019000	0.41001	-0.719000	0.04942	-0.793000	0.03317	AGC		0.612	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		10	113	10	113	---	---	---	---
PXN	5829	broad.mit.edu	37	12	120657110	120657110	+	Intron	SNP	G	G	A	rs201683893		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:120657110G>A	ENST00000228307.7	-	6	973				PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000397506.3_De_novo_Start_InFrame|PXN_ENST00000538144.1_Intron|PXN_ENST00000424649.2_Intron|PXN_ENST00000536957.1_Intron	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin						activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCTTCCGTGGTGCCCTC	0.622																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19								paxillin							123.0	117.0	119.0					12																	120657110		876	1991	2867	SO:0001627	intron_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120657110G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.831+2315C>T	12.37:g.120657110G>A			Somatic				PXN_ENST00000424649.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron				WXS	Illumina GAIIx	Phase_I	P49023	PAXI_HUMAN			0	71	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Translation_Start_Site	SNP	ENST00000228307.7	37		CCDS44997.1																																																																																				0.622	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		4	121	4	121	---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49776084	49776084	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:49776084G>T	ENST00000492622.2	+	24	3441	c.3136G>T	c.(3136-3138)Gtc>Ttc	p.V1046F	FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1046	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.V1046F(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCCAAAATCTGTCCCAGCTGC	0.318																																						ENST00000492622.2																			1	Substitution - Missense(1)	p.V1046F(1)	prostate(1)	endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3136-3138)Gtc>Ttc		fibronectin type III domain containing 3A							72.0	74.0	73.0					13																	49776084		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49776084G>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3136G>T	13.37:g.49776084G>T	ENSP00000417257:p.Val1046Phe		Somatic				FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F	p.V1046F	NM_001079673.1	NP_001073141.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3441	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1046					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3136G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675901	0.47886	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56444	0.46;0.46;0.46	6.16	5.31	0.75309	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.211286	0.32287	N	0.006309	T	0.54415	0.1857	L	0.59436	1.845	0.40073	D	0.97603	B;B	0.28667	0.219;0.139	B;B	0.34722	0.188;0.092	T	0.56195	-0.8019	10	0.49607	T	0.09	-5.9102	15.2966	0.73913	0.0:0.2636:0.7364:0.0	.	990;1046	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	F	1046;982;1046;990	ENSP00000417257:V1046F;ENSP00000441831:V1046F;ENSP00000381362:V990F	ENSP00000338579:V982F	V	+	1	0	FNDC3A	48674085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.087000	0.50167	1.597000	0.50072	0.650000	0.86243	GTC		0.318	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		7	167	7	167	---	---	---	---
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys		Somatic				AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K	p.E17K			WXS	Illumina GAIIx	Phase_I	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		7	19	7	19	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34649647	34649647	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:34649647C>T	ENST00000333756.4	+	7	3509	c.3354C>T	c.(3352-3354)gaC>gaT	p.D1118D	NUTM1_ENST00000438749.3_Silent_p.D1136D|NUTM1_ENST00000537011.1_Silent_p.D1146D	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1118						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D1118D(1)									GGCGGTGTGACAGTTTTGTCA	0.582																																						ENST00000537011.1																			1	Substitution - coding silent(1)	p.D1118D(1)	prostate(1)								c.(3436-3438)gaC>gaT		NUT midline carcinoma, family member 1							73.0	75.0	75.0					15																	34649647		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34649647C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3354C>T	15.37:g.34649647C>T			Somatic				NUTM1_ENST00000438749.3_Silent_p.D1136D|NUTM1_ENST00000333756.4_Silent_p.D1118D	p.D1146D	NM_001284292.1	NP_001271221.1	WXS	Illumina GAIIx	Phase_I					8	3820	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3438C>T	CCDS32190.1																																																																																				0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		65	87	65	87	---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101425511	101425511	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:101425511A>G	ENST00000329841.5	+	2	671	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	47					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.K47E(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAAGAGTGGGAAAAAGTTTGC	0.333																																						ENST00000329841.5																			2	Substitution - Missense(2)	p.K47E(2)	prostate(2)	NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(139-141)Aaa>Gaa		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						99.0	100.0	100.0					15																	101425511		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425511A>G	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.139A>G	15.37:g.101425511A>G	ENSP00000332256:p.Lys47Glu		Somatic				ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E|ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA	p.K47E	NM_000693.2	NP_000684.2	WXS	Illumina GAIIx	Phase_I	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	671	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		47					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.139A>G	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418223	0.83449	.	.	ENSG00000184254	ENST00000329841;ENST00000415812;ENST00000346623	T	0.15139	2.45	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.184196	0.64402	D	0.000018	T	0.17408	0.0418	N	0.04063	-0.285	0.28173	N	0.9285	P;B;B	0.52692	0.955;0.044;0.044	P;B;B	0.55615	0.78;0.082;0.044	T	0.13872	-1.0493	10	0.59425	D	0.04	.	15.6578	0.77155	1.0:0.0:0.0:0.0	.	58;47;47	Q7Z3A2;B2R5T2;P47895	.;.;AL1A3_HUMAN	E	47;47;58	ENSP00000332256:K47E	ENSP00000332256:K47E	K	+	1	0	ALDH1A3	99243034	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.510000	0.90532	2.179000	0.69175	0.459000	0.35465	AAA		0.333	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			33	88	33	88	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7568237	7568237	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:7568237C>T	ENST00000550418.1	+	5	1104	c.116C>T	c.(115-117)gCg>gTg	p.A39V	RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A44V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	39					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.A59V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGTATCCCCGCGGAATACACG	0.612																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - Missense(2)	p.A59V(2)	prostate(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(130-132)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							120.0	119.0	119.0					16																	7568237		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568237C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.116C>T	16.37:g.7568237C>T	ENSP00000450031:p.Ala39Val		Somatic				RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V	p.A44V			WXS	Illumina GAIIx	Phase_I	Q9NWB1	RFOX1_HUMAN			2	428	+			39					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.131C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207347	0.95033	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34275	1.88;1.37;1.72;1.68;1.68;1.78;1.37;1.5;1.68;1.67;1.38	4.85	4.85	0.62838	.	0.129861	0.50627	D	0.000112	T	0.54159	0.1841	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;P;P;D	0.89917	0.998;0.999;1.0;1.0;0.977;1.0;0.937;0.896;0.994	P;D;P;D;P;D;P;P;P	0.85130	0.887;0.92;0.877;0.997;0.651;0.991;0.572;0.505;0.861	T	0.57952	-0.7722	10	0.72032	D	0.01	-6.9425	17.9952	0.89181	0.0:1.0:0.0:0.0	.	59;75;82;59;59;59;39;39;82	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	39;39;39;82;82;75;75;39;39;59;59;59;59;44	ENSP00000450402:A39V;ENSP00000450031:A39V;ENSP00000447753:A39V;ENSP00000446842:A82V;ENSP00000391269:A82V;ENSP00000447281:A39V;ENSP00000447717:A39V;ENSP00000402745:A59V;ENSP00000309117:A59V;ENSP00000347855:A59V;ENSP00000344196:A44V	ENSP00000309117:A59V	A	+	2	0	RBFOX1	7508238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.041000	0.76558	2.222000	0.72286	0.557000	0.71058	GCG		0.612	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		22	199	22	199	---	---	---	---
TVP23C	201158	broad.mit.edu	37	17	15441443	15441443	+	Intron	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:15441443A>G	ENST00000225576.3	-	5	558				TVP23C_ENST00000438826.3_Nonstop_Mutation_p.*206R|TVP23C_ENST00000584811.1_Nonstop_Mutation_p.*142R|TVP23C_ENST00000428082.2_Nonstop_Mutation_p.*206R|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TTCTCTATTCAGGAAGTCTGA	0.418																																						ENST00000584811.1																			0											c.(424-426)Tga>Cga		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441443A>G	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7655T>C	17.37:g.15441443A>G			Somatic				TVP23C_ENST00000438826.3_Nonstop_Mutation_p.*206R|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Nonstop_Mutation_p.*206R|TVP23C-CDRT4_ENST00000522212.2_Intron	p.*142R			WXS	Illumina GAIIx	Phase_I					7	1839	-								Q3LIC7	Nonstop_Mutation	SNP	ENST00000225576.3	37	c.424T>C	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	5.207	0.223648	0.09863	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.40441	D	0.980045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.359	0.43982	1.0:0.0:0.0:0.0	.	.	.	.	R	206	.	.	X	-	1	0	FAM18B2	15382168	0.550000	0.26489	0.119000	0.21687	0.051000	0.14879	3.808000	0.55598	2.002000	0.58637	0.477000	0.44152	TGA		0.418	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		9	120	9	120	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557																																						ENST00000406403.1																			6	Substitution - Missense(6)	p.E20K(6)	prostate(4)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(58-60)Gag>Aag		CCR4-NOT transcription complex, subunit 3							171.0	172.0	171.0					19																	54646887		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646887G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.58G>A	19.37:g.54646887G>A	ENSP00000383954:p.Glu20Lys		Somatic				CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR	p.E20K			WXS	Illumina GAIIx	Phase_I	O75175	CNOT3_HUMAN			2	1661	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		20					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.58G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507003	0.96386	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.88178	0.2869	10	0.87932	D	0	-31.302	17.5375	0.87837	0.0:0.0:1.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	K	20	ENSP00000221232:E20K;ENSP00000383954:E20K	ENSP00000221232:E20K	E	+	1	0	CNOT3	59338699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		19	241	19	241	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21330001	21330001	+	Missense_Mutation	SNP	G	G	T	rs143272206		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:21330001G>T	ENST00000399167.2	+	9	981	c.741G>T	c.(739-741)gaG>gaT	p.E247D	AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	247					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.E247D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGCCTGAGCAGCTGGCCC	0.632																																						ENST00000399167.2																			1	Substitution - Missense(1)	p.E247D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(739-741)gaG>gaT		apoptosis-inducing factor, mitochondrion-associated, 3							78.0	74.0	76.0					22																	21330001		2203	4300	6503	SO:0001583	missense	150209							g.chr22:21330001G>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.741G>T	22.37:g.21330001G>T	ENSP00000382120:p.Glu247Asp		Somatic				AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D|AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D	p.E247D	NM_144704.2	NP_653305.1	WXS	Illumina GAIIx	Phase_I			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	981	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.741G>T	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630279	0.46944	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.65	2.03	0.26663	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.33485	1.01	0.58432	D	0.999997	B;B;B;B;B	0.23806	0.091;0.055;0.016;0.016;0.02	B;B;B;B;B	0.21360	0.034;0.029;0.017;0.017;0.029	T	0.05784	-1.0864	10	0.17369	T	0.5	-20.8613	7.9978	0.30277	0.2595:0.0:0.7405:0.0	.	235;235;253;247;247	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	D	247;247;247;253;235;247;247	ENSP00000382120:E247D;ENSP00000382116:E247D;ENSP00000399657:E247D;ENSP00000385800:E253D;ENSP00000335369:E235D;ENSP00000390798:E247D;ENSP00000327671:E247D	ENSP00000327671:E247D	E	+	3	2	AIFM3	19660001	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	0.599000	0.24089	0.160000	0.19432	0.561000	0.74099	GAG		0.632	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		11	129	11	129	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83411185	83411185	+	Silent	SNP	A	A	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:83411185A>T	ENST00000262752.2	-	3	163	c.156T>A	c.(154-156)gtT>gtA	p.V52V	RPS6KA6_ENST00000543399.1_Silent_p.V52V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	52					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V52V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGATTTCTTTAACAACTCCTT	0.353																																						ENST00000262752.2																			1	Substitution - coding silent(1)	p.V52V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(154-156)gtT>gtA		ribosomal protein S6 kinase, 90kDa, polypeptide 6							82.0	67.0	72.0					X																	83411185		2203	4300	6503	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411185A>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.156T>A	X.37:g.83411185A>T			Somatic				RPS6KA6_ENST00000543399.1_Silent_p.V52V	p.V52V	NM_014496.4	NP_055311.1	WXS	Illumina GAIIx	Phase_I	Q9UK32	KS6A6_HUMAN			3	163	-			52					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.156T>A	CCDS14451.1																																																																																				0.353	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		5	39	5	39	---	---	---	---
STK26	51765	broad.mit.edu	37	X	131207114	131207114	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:131207114T>A	ENST00000354719.6	+	10	1363	c.1147T>A	c.(1147-1149)Ttt>Att	p.F383I	MST4_ENST00000496850.1_Missense_Mutation_p.F345I|MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394334.2_Missense_Mutation_p.F407I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I														p.F407I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATTGAAAAATTTCAAAAGTA	0.343																																						ENST00000394334.2																			1	Substitution - Missense(1)	p.F407I(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1219-1221)Ttt>Att									48.0	53.0	51.0					X																	131207114		2169	4256	6425	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207114T>A																												ENST00000354719.6:c.1147T>A	X.37:g.131207114T>A	ENSP00000346755:p.Phe383Ile		Somatic				MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000354719.6_Missense_Mutation_p.F383I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I	p.F407I	NM_016542.3	NP_057626.2	WXS	Illumina GAIIx	Phase_I	Q9P289	MST4_HUMAN			11	1472	+	Acute lymphoblastic leukemia(192;0.000127)		407						Missense_Mutation	SNP	ENST00000354719.6	37	c.1219T>A		.	.	.	.	.	.	.	.	.	.	t	13.05	2.121967	0.37436	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	T	0.22513	0.0543	L	0.38531	1.155	0.33057	D	0.533502	B;B;B;B;B	0.24186	0.004;0.002;0.099;0.006;0.002	B;B;B;B;B	0.25291	0.005;0.004;0.059;0.012;0.005	T	0.21381	-1.0247	10	0.23891	T	0.37	.	14.9086	0.70737	0.0:0.0:0.0:1.0	.	429;383;345;330;407	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	I	407;429;383;330;345	ENSP00000377867:F407I;ENSP00000418753:F429I;ENSP00000346755:F383I;ENSP00000377868:F330I;ENSP00000419702:F345I	ENSP00000346755:F383I	F	+	1	0	AL109749.1	131034795	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	4.491000	0.60326	1.903000	0.55091	0.422000	0.28245	TTT		0.343	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			3	66	3	66	---	---	---	---
MT-ND4	4538	broad.mit.edu	37	M	11775	11775	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrM:11775G>A	ENST00000361381.2	+	1	1016	c.1016G>A	c.(1015-1017)aGt>aAt	p.S339N	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	339					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACGCACTCACAGTCGCATCAT	0.493																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1015-1017)aGt>aAt		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11775G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1016G>A	M.37:g.11775G>A	ENSP00000354961:p.Ser339Asn		Somatic					p.S339N			WXS	Illumina GAIIx	Phase_I					1	1016	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.1016G>A																																																																																					0.493	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		3	5	3	5	---	---	---	---
