#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAP3K9	4293	broad.mit.edu	37	14	71215544	71215544	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.e5+1		mitogen-activated protein kinase kinase kinase 9							70.0	67.0	68.0					14																	71215544		2203	4300	6503	SO:0001630	splice_region_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71215544A>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1326+1T>A	14.37:g.71215544A>T						MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site				P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1326	-								A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Splice_Site	SNP	ENST00000554752.2	37																																																																																						0.438	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		Intron	5	184	0	0	0	0.000602214	0	5	184				
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308																																						ENST00000399799.1																			1	Substitution - Missense(1)	p.T518S(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1552-1554)Aca>Tca		Rho-associated, coiled-coil containing protein kinase 1							57.0	61.0	60.0					18																	18586746		2201	4297	6498	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586746T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1552A>T	18.37:g.18586746T>A	ENSP00000382697:p.Thr518Ser						p.T518S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)		518			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1552A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	9.907	1.208593	0.22205	.	.	ENSG00000067900	ENST00000399799	D	0.81996	-1.56	5.44	5.44	0.79542	.	0.049365	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25144	0.715	0.54753	D	0.999988	B	0.10296	0.003	B	0.09377	0.004	T	0.66448	-0.5921	10	0.10377	T	0.69	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	518	Q13464	ROCK1_HUMAN	S	518	ENSP00000382697:T518S	ENSP00000382697:T518S	T	-	1	0	ROCK1	16840744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.391000	0.59652	2.285000	0.76669	0.533000	0.62120	ACA		0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		6	280	0	0	0	0.00116845	0	6	280				
MRPL1	65008	broad.mit.edu	37	4	78784032	78784032	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:78784032A>C	ENST00000315567.8	+	1	359	c.30A>C	c.(28-30)agA>agC	p.R10S		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	10					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R10S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GCATGGGTAGAGGTAAGGCGA	0.537																																						ENST00000315567.8																			1	Substitution - Missense(1)	p.R10S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.e1+1		mitochondrial ribosomal protein L1							126.0	144.0	138.0					4																	78784032		1961	4143	6104	SO:0001630	splice_region_variant	65008						RNA binding	g.chr4:78784032A>C	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.31+1A>C	4.37:g.78784032A>C							p.R10_splice	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			1	359	+			10					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Splice_Site	SNP	ENST00000315567.8	37	c.31_splice	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854638	0.32791	.	.	ENSG00000169288	ENST00000315567	T	0.32753	1.44	4.52	-0.479	0.12089	.	0.333132	0.20058	U	0.100145	T	0.25494	0.0620	L	0.39898	1.24	0.28380	N	0.919598	P	0.41420	0.749	P	0.45753	0.492	T	0.14309	-1.0477	10	0.33141	T	0.24	-1.4521	7.1856	0.25797	0.6144:0.0:0.3856:0.0	.	10	Q9BYD6	RM01_HUMAN	S	10	ENSP00000315017:R10S	ENSP00000315017:R10S	R	+	3	2	MRPL1	79003056	1.000000	0.71417	0.474000	0.27266	0.021000	0.10359	1.420000	0.34804	-0.049000	0.13379	-0.923000	0.02734	AGA		0.537	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236	Missense_Mutation	6	169	0	0	0	0.00198382	0	6	169				
MAL	4118	broad.mit.edu	37	2	95713710	95713710	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:95713710G>A	ENST00000309988.4	+	2	209	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.G34R|MAL_ENST00000354078.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	34	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.G34R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		GCAGATCTTCGGGGGCCTGGT	0.667																																						ENST00000309988.4																			1	Substitution - Missense(1)	p.G34R(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(100-102)Ggg>Agg		mal, T-cell differentiation protein							45.0	44.0	44.0					2																	95713710		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713710G>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.100G>A	2.37:g.95713710G>A	ENSP00000310880:p.Gly34Arg					MAL_ENST00000353004.3_Missense_Mutation_p.G34R|MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron	p.G34R	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	209	+			34			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.100G>A	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138719	0.94560	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.81078	1.62;-1.45	5.77	5.77	0.91146	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92955	0.6384	10	0.87932	D	0	.	15.4962	0.75653	0.0:0.0:1.0:0.0	.	34;34	P21145-2;P21145	.;MAL_HUMAN	R	34	ENSP00000310880:G34R;ENSP00000306568:G34R	ENSP00000310880:G34R	G	+	1	0	MAL	95077437	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.825000	0.92029	2.744000	0.94065	0.561000	0.74099	GGG		0.667	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		26	60	0	0	0	0.001512	0	26	60				
RCL1	10171	broad.mit.edu	37	9	4841318	4841318	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:4841318A>G	ENST00000381750.4	+	6	894	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	224					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCTGATATCTATATTTACACA	0.438																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(670-672)tAt>tGt		RNA terminal phosphate cyclase-like 1							129.0	117.0	121.0					9																	4841318		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4841318A>G	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.671A>G	9.37:g.4841318A>G	ENSP00000371169:p.Tyr224Cys					RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C	p.Y224C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	6	894	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	224					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.671A>G	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522155	0.85600	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	5.74	5.74	0.90152	-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (2);RNA 3&apos (7);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.111081	0.64402	D	0.000005	D	0.85831	0.5788	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.981	D	0.88039	0.2780	9	0.48119	T	0.1	-20.675	16.3305	0.83010	1.0:0.0:0.0:0.0	.	38;224	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	C	224;66;38;38;38;38	.	ENSP00000371147:Y38C	Y	+	2	0	RCL1	4831318	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.310000	0.96267	2.317000	0.78254	0.459000	0.35465	TAT		0.438	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		4	287	0	0	0	0.00024832	0	4	287				
TCF20	6942	broad.mit.edu	37	22	42610895	42610895	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42610895A>G	ENST00000359486.3	-	1	553	c.417T>C	c.(415-417)ttT>ttC	p.F139F	TCF20_ENST00000335626.4_Silent_p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F139F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGTGCTTGAAACTGGCCCA	0.577																																						ENST00000359486.3																			1	Substitution - coding silent(1)	p.F139F(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(415-417)ttT>ttC		transcription factor 20 (AR1)							104.0	94.0	97.0					22																	42610895		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610895A>G	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.417T>C	22.37:g.42610895A>G						TCF20_ENST00000335626.4_Silent_p.F139F	p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	553	-			139					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.417T>C	CCDS14033.1																																																																																				0.577	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		56	162	0	0	0	0.00361006	0	56	162				
ZNF778	197320	broad.mit.edu	37	16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89294346G>T	ENST00000433976.2	+	6	1898	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E522D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACTGAATGAGCATGTGAAAA	0.458																																						ENST00000433976.2																			1	Substitution - Missense(1)	p.E522D(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1564-1566)gaG>gaT		zinc finger protein 778							73.0	81.0	78.0					16																	89294346		2184	4296	6480	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294346G>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1566G>T	16.37:g.89294346G>T	ENSP00000405289:p.Glu522Asp					ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|RP11-46C24.6_ENST00000563182.1_RNA	p.E522D	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1898	+			522					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1566G>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	1.649	-0.514363	0.04200	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.03635	3.86;3.86	1.11	-0.133	0.13485	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.16016	0.355	0.09310	N	0.999996	P;P	0.36330	0.492;0.548	B;B	0.35039	0.122;0.194	T	0.44772	-0.9306	9	0.13470	T	0.59	.	3.1069	0.06345	0.7146:0.0:0.2854:0.0	.	480;522	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	D	522;480	ENSP00000405289:E522D;ENSP00000305203:E480D	ENSP00000305203:E480D	E	+	3	2	ZNF778	87821847	0.000000	0.05858	0.025000	0.17156	0.232000	0.25224	-3.529000	0.00440	-0.049000	0.13379	-0.377000	0.06932	GAG		0.458	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		7	108	1	0	0.00198382	0.00198382	0.00529018	7	108				
FCRL4	83417	broad.mit.edu	37	1	157558993	157558993	+	Splice_Site	SNP	C	C	G	rs369715282		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:157558993C>G	ENST00000271532.1	-	3	443		c.e3+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTTTCTCACCTGAAGAAAA	0.493																																						ENST00000271532.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.e3+1		Fc receptor-like 4							56.0	62.0	60.0					1																	157558993		2203	4300	6503	SO:0001630	splice_region_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157558993C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.307+1G>C	1.37:g.157558993C>G						FCRL4_ENST00000448509.2_Splice_Site		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			3	443	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)						Q96PJ3|Q96RE0	Splice_Site	SNP	ENST00000271532.1	37		CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908885	0.52439	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.2	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9094	0.13814	0.2098:0.6794:0.0:0.1107	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL4	155825617	0.904000	0.30761	0.879000	0.34478	0.783000	0.44284	0.366000	0.20365	0.482000	0.27582	0.557000	0.71058	.		0.493	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	Intron	18	146	0	0	0	0.000958276	0	18	146				
OTULIN	90268	broad.mit.edu	37	5	14687628	14687628	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN							canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.e5-1		family with sequence similarity 105, member B							114.0	116.0	115.0					5																	14687628		1837	4102	5939	SO:0001630	splice_region_variant	90268							g.chr5:14687628A>T																												ENST00000284274.4:c.469-1A>T	5.37:g.14687628A>T								NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			5	546	+	Lung NSC(4;0.00696)							D3DTD3|Q8NAS0|Q96IA3	Splice_Site	SNP	ENST00000284274.4	37		CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065430	0.76187	.	.	ENSG00000154124	ENST00000284274	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3294	0.66545	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM105B	14740628	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	6.015000	0.70791	2.317000	0.78254	0.460000	0.39030	.		0.348	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		Intron	5	192	0	0	0	0.000602214	0	5	192				
ARAP2	116984	broad.mit.edu	37	4	36130284	36130284	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:36130284T>G	ENST00000303965.4	-	21	4000	c.3511A>C	c.(3511-3513)Aga>Cga	p.R1171R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1171	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R1171R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGCTTCTTGCATCCTTT	0.358																																						ENST00000303965.4																			1	Substitution - coding silent(1)	p.R1171R(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3511-3513)Aga>Cga		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							103.0	101.0	101.0					4																	36130284		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36130284T>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3511A>C	4.37:g.36130284T>G							p.R1171R	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			21	4000	-			1171			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.3511A>C	CCDS3441.1																																																																																				0.358	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		11	175	0	0	0	0.00185496	0	11	175				
GRM3	2913	broad.mit.edu	37	7	86468360	86468360	+	Silent	SNP	C	C	T	rs527768281	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:86468360C>T	ENST00000361669.2	+	4	2629	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	GRM3_ENST00000546348.1_Silent_p.S102S|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Silent_p.S382S|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	510					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S510S(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCCAGTGCAGCGACCCCTGTG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		20635	0.0		0.0	False		,,,				2504	0.002				GBM(52;969 1098 3139 52280)	ENST00000361669.2																			1	Substitution - coding silent(1)	p.S510S(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1528-1530)agC>agT		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						85.0	79.0	81.0					7																	86468360		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86468360C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1530C>T	7.37:g.86468360C>T						GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.S102S|GRM3_ENST00000536043.1_Silent_p.S382S|GRM3_ENST00000439827.1_Intron	p.S510S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2629	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		510					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1530C>T	CCDS5600.1																																																																																				0.512	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			35	134	0	0	0	0.0024448	0	35	134				
UAP1L1	91373	broad.mit.edu	37	9	139975242	139975242	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:139975242T>A	ENST00000409858.3	+	7	1312	c.1280T>A	c.(1279-1281)cTg>cAg	p.L427Q	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	427							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGCCAGGCCCTGCTCACCCAG	0.677																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1279-1281)cTg>cAg		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							39.0	42.0	41.0					9																	139975242		2202	4300	6502	SO:0001583	missense	91373						nucleotidyltransferase activity	g.chr9:139975242T>A	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1280T>A	9.37:g.139975242T>A	ENSP00000386935:p.Leu427Gln					UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	p.L427Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1312	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	427					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.1280T>A	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424149	0.62733	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.21031	2.03;2.03	4.09	4.09	0.47781	.	0.077412	0.52532	D	0.000061	T	0.49966	0.1588	M	0.86343	2.81	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58707	-0.7589	10	0.87932	D	0	.	12.2499	0.54591	0.0:0.0:0.0:1.0	.	427;304	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	Q	427;304	ENSP00000386935:L427Q;ENSP00000353409:L304Q	ENSP00000353409:L304Q	L	+	2	0	UAP1L1	139095063	1.000000	0.71417	0.802000	0.32245	0.385000	0.30292	6.088000	0.71371	1.495000	0.48549	0.383000	0.25322	CTG		0.677	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		4	92	0	0	0	0.000602214	0	4	92				
CCDC13	152206	broad.mit.edu	37	3	42784452	42784452	+	Missense_Mutation	SNP	G	G	A	rs143310118	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:42784452G>A	ENST00000310232.6	-	8	1006	c.923C>T	c.(922-924)tCg>tTg	p.S308L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	308								p.S308L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTCCTGTGCCGACAGCTTCCT	0.572													G|||	11	0.00219649	0.0	0.0	5008	,	,		19055	0.0109		0.0	False		,,,				2504	0.0					ENST00000310232.6																			1	Substitution - Missense(1)	p.S308L(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(922-924)tCg>tTg		coiled-coil domain containing 13		G	LEU/SER	0,4406		0,0,2203	143.0	140.0	141.0		923	4.7	0.9	3	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC13	NM_144719.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	308/716	42784452	1,13005	2203	4300	6503	SO:0001583	missense	152206							g.chr3:42784452G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.923C>T	3.37:g.42784452G>A	ENSP00000309836:p.Ser308Leu					CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	p.S308L	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			8	1006	-			308						Missense_Mutation	SNP	ENST00000310232.6	37	c.923C>T	CCDS2705.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	21.9	4.213383	0.79352	0.0	1.16E-4	ENSG00000244607	ENST00000310232	T	0.25912	1.77	4.69	4.69	0.59074	.	0.688212	0.13500	N	0.383359	T	0.21962	0.0529	M	0.67953	2.075	0.30591	N	0.761562	P	0.42456	0.78	B	0.34652	0.187	T	0.33650	-0.9860	10	0.54805	T	0.06	.	16.5614	0.84567	0.0:0.0:1.0:0.0	.	308	Q8IYE1	CCD13_HUMAN	L	308	ENSP00000309836:S308L	ENSP00000309836:S308L	S	-	2	0	CCDC13	42759456	1.000000	0.71417	0.859000	0.33776	0.977000	0.68977	6.342000	0.72982	2.435000	0.82474	0.591000	0.81541	TCG		0.572	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		10	276	0	0	0	0.000978159	0	10	276				
AHSG	197	broad.mit.edu	37	3	186331026	186331026	+	Silent	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:186331026C>T	ENST00000273784.5	+	1	172	c.96C>T	c.(94-96)tgC>tgT	p.C32C	AHSG_ENST00000411641.2_Silent_p.C32C	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	32	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.C32C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AACCGAACTGCGATGATCCAG	0.512																																						ENST00000411641.2																			1	Substitution - coding silent(1)	p.C32C(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(94-96)tgC>tgT		alpha-2-HS-glycoprotein							70.0	67.0	68.0					3																	186331026		2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186331026C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.96C>T	3.37:g.186331026C>T						AHSG_ENST00000273784.5_Silent_p.C32C	p.C32C			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	1	315	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		32			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.96C>T																																																																																					0.512	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		5	108	0	0	0	0.000602214	0	5	108				
HIPK1	204851	broad.mit.edu	37	1	114510461	114510461	+	Silent	SNP	T	T	C	rs376504628		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:114510461T>C	ENST00000369558.1	+	12	2687	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	HIPK1_ENST00000426820.2_Silent_p.L819L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369554.2_Silent_p.L774L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	819					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L819L(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTGACATTGGCCACTGC	0.488																																						ENST00000369558.1																			3	Substitution - coding silent(3)	p.L819L(3)	prostate(3)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2455-2457)Ttg>Ctg		homeodomain interacting protein kinase 1		T	,,,	3,4403	6.2+/-15.9	0,3,2200	191.0	157.0	169.0		2455,1273,2455,1333	-7.6	0.0	1		169	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIPK1	NM_152696.3,NM_181358.2,NM_198268.2,NM_198269.2	,,,	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	,,,	819/1076,425/817,819/1211,445/837	114510461	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114510461T>C	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2455T>C	1.37:g.114510461T>C						HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000426820.2_Silent_p.L819L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000406344.1_Silent_p.L425L	p.L819L			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2687	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	819					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.2455T>C	CCDS867.1	.	.	.	.	.	.	.	.	.	.	T	7.075	0.569058	0.13560	6.81E-4	0.0	ENSG00000163349	ENST00000361587	.	.	.	5.57	-7.64	0.01286	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69480	-0.5134	4	.	.	.	.	19.7827	0.96424	0.0:0.6764:0.0:0.3236	.	.	.	.	T	99	.	.	I	+	2	0	HIPK1	114311984	0.000000	0.05858	0.001000	0.08648	0.893000	0.52053	-0.303000	0.08210	-2.112000	0.00835	-1.139000	0.01908	ATT		0.488	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		7	210	0	0	0	0.00198382	0	7	210				
LRFN3	79414	broad.mit.edu	37	19	36431059	36431059	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36431059G>A	ENST00000588831.1	+	3	1786	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LRFN3_ENST00000246529.3_Silent_p.L244L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	244					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCTGGTGCTGGCCTTTGGCG	0.721																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(730-732)ctG>ctA		leucine rich repeat and fibronectin type III domain containing 3							26.0	32.0	30.0					19																	36431059		2114	4147	6261	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431059G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.732G>A	19.37:g.36431059G>A						LRFN3_ENST00000246529.3_Silent_p.L244L	p.L244L			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1786	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		244					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.732G>A	CCDS12483.1																																																																																				0.721	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		3	42	0	0	0	0.000602214	0	3	42				
ADRB2	154	broad.mit.edu	37	5	148207351	148207351	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148207351T>G	ENST00000305988.4	+	1	1196	c.957T>G	c.(955-957)tcT>tcG	p.S319S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	319					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.S319S(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	ATGTCAATTCTGGTTTCAATC	0.478																																						ENST00000305988.4																			1	Substitution - coding silent(1)	p.S319S(1)	prostate(1)	endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(955-957)tcT>tcG		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						92.0	90.0	91.0					5																	148207351		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207351T>G	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.957T>G	5.37:g.148207351T>G							p.S319S	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1196	+			319					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.957T>G	CCDS4292.1																																																																																				0.478	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		15	142	0	0	0	0.00244969	0	15	142				
ADAMTS13	11093	broad.mit.edu	37	9	136313725	136313725	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136313725A>C	ENST00000371929.3	+	22	3181	c.2737A>C	c.(2737-2739)Atg>Ctg	p.M913L	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000536611.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	913	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M913L(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGCAGGTCTGATGGAGCTGCG	0.632																																						ENST00000371929.3																			2	Substitution - Missense(2)	p.M913L(2)	prostate(2)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(2737-2739)Atg>Ctg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							111.0	114.0	113.0					9																	136313725		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136313725A>C	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2737A>C	9.37:g.136313725A>C	ENSP00000360997:p.Met913Leu					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR	p.M913L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	22	3181	+			913			TSP type-1 5.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.2737A>C	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090320	0.08632	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.67171	-0.21;-0.25;-0.23	5.39	0.0901	0.14462	.	.	.	.	.	T	0.46054	0.1373	N	0.25647	0.755	0.09310	N	0.999998	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.22208	-1.0223	9	0.22109	T	0.4	.	4.6709	0.12689	0.5174:0.313:0.1696:0.0	.	913;882;913	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	L	913;913;882	ENSP00000360997:M913L;ENSP00000347927:M913L;ENSP00000348997:M882L	ENSP00000347927:M913L	M	+	1	0	ADAMTS13	135303546	0.252000	0.23972	0.000000	0.03702	0.380000	0.30137	0.506000	0.22658	-0.149000	0.11215	0.533000	0.62120	ATG		0.632	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		8	345	0	0	0	0.000442599	0	8	345				
MYL6	4637	broad.mit.edu	37	12	56554423	56554423	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554423T>A	ENST00000550697.1	+	6	682	c.441T>A	c.(439-441)caT>caA	p.H147Q	MYL6_ENST00000549566.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	147	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.H147Q(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGAGGCATATCCTGTCGG	0.547																																						ENST00000550697.1																			1	Substitution - Missense(1)	p.H147Q(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(439-441)caT>caA		myosin, light chain 6, alkali, smooth muscle and non-muscle							206.0	187.0	193.0					12																	56554423		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56554423T>A	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.441T>A	12.37:g.56554423T>A	ENSP00000446955:p.His147Gln					MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q	p.H147Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		6	682	+			147			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.441T>A	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178970	0.38511	.	.	ENSG00000092841	ENST00000550697;ENST00000348108;ENST00000548400;ENST00000548293	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.14	4.14	0.48551	EF-hand-like domain (1);	.	.	.	.	T	0.69124	0.3076	L	0.53780	1.695	0.42430	D	0.992675	B	0.02656	0.0	B	0.04013	0.001	T	0.67872	-0.5558	9	0.49607	T	0.09	.	5.3756	0.16164	0.0:0.201:0.0:0.799	.	147	P60660	MYL6_HUMAN	Q	147;148;111;147	ENSP00000446955:H147Q;ENSP00000301540:H148Q;ENSP00000448859:H111Q;ENSP00000448101:H147Q	ENSP00000301540:H148Q	H	+	3	2	MYL6	54840690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.982000	0.49337	1.895000	0.54865	0.459000	0.35465	CAT		0.547	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			14	351	0	0	0	0.00327116	0	14	351				
ABCA4	24	broad.mit.edu	37	1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:94508397A>G	ENST00000370225.3	-	22	3334	c.3248T>C	c.(3247-3249)gTg>gCg	p.V1083A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1083	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.V1083A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCAGAATCACCACCTTGGC	0.567																																						ENST00000370225.3																			1	Substitution - Missense(1)	p.V1083A(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3247-3249)gTg>gCg		ATP-binding cassette, sub-family A (ABC1), member 4							100.0	85.0	90.0					1																	94508397		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94508397A>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3248T>C	1.37:g.94508397A>G	ENSP00000359245:p.Val1083Ala						p.V1083A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	22	3334	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1083			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3248T>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.005858	0.93287	.	.	ENSG00000198691	ENST00000370225	D	0.93712	-3.27	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.059813	0.64402	D	0.000003	D	0.94518	0.8235	M	0.71296	2.17	0.80722	D	1	P	0.50617	0.937	P	0.55749	0.783	D	0.95191	0.8308	10	0.87932	D	0	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	1083	P78363	ABCA4_HUMAN	A	1083	ENSP00000359245:V1083A	ENSP00000359245:V1083A	V	-	2	0	ABCA4	94280985	1.000000	0.71417	0.922000	0.36590	0.974000	0.67602	9.310000	0.96267	2.195000	0.70347	0.528000	0.53228	GTG		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	144	0	0	0	0.000442599	0	9	144				
ZNF276	92822	broad.mit.edu	37	16	89789105	89789105	+	Silent	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89789105T>A	ENST00000443381.2	+	2	469	c.372T>A	c.(370-372)gcT>gcA	p.A124A	ZNF276_ENST00000289816.5_Silent_p.A49A|ZNF276_ENST00000446326.2_5'UTR|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Silent_p.A49A	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	124	ZAD.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTGGTGTGGCTGTCCGCCAGG	0.637																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(145-147)gcT>gcA		zinc finger protein 276							69.0	66.0	67.0					16																	89789105		2198	4300	6498	SO:0001819	synonymous_variant	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789105T>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.372T>A	16.37:g.89789105T>A						ZNF276_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR	p.A49A	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	459	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	124					Q0VGA1|Q2TBE8|Q3B7H7	Silent	SNP	ENST00000443381.2	37	c.147T>A	CCDS45554.1																																																																																				0.637	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		4	106	0	0	0	0.00024832	0	4	106				
TRIM31	11074	broad.mit.edu	37	6	30080405	30080405	+	Missense_Mutation	SNP	C	C	T	rs143020056	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:30080405C>T	ENST00000376734.3	-	2	303	c.178G>A	c.(178-180)Gta>Ata	p.V60I	TRIM31_ENST00000540829.1_Missense_Mutation_p.V60I|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	60					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V60I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTCTTCCTTACGGAAGTTTTG	0.473													C|||	168	0.0335463	0.0008	0.0014	5008	,	,		21371	0.0367		0.003	False		,,,				2504	0.1288					ENST00000376734.3																			1	Substitution - Missense(1)	p.V60I(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(178-180)Gta>Ata		tripartite motif containing 31		C	ILE/VAL	5,3013		0,5,1504	117.0	120.0	119.0		178	-1.0	0.0	6	dbSNP_134	119	23,5395		0,23,2686	yes	missense	TRIM31	NM_007028.3	29	0,28,4190	TT,TC,CC		0.4245,0.1657,0.3319	benign	60/426	30080405	28,8408	1509	2709	4218	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30080405C>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.178G>A	6.37:g.30080405C>T	ENSP00000365924:p.Val60Ile					TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.V60I	p.V60I	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			2	303	-			60					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.178G>A	CCDS34374.1	8	0.003663003663003663	2	0.0040650406504065045	1	0.0027624309392265192	5	0.008741258741258742	0	0.0	C	13.40	2.225001	0.39300	0.001657	0.004245	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	D;D	0.83673	-1.75;-1.75	3.67	-0.97	0.10306	Zinc finger, RING/FYVE/PHD-type (1);	0.265447	0.20018	N	0.100964	T	0.40619	0.1124	N	0.19112	0.55	0.09310	N	1	B	0.30664	0.289	B	0.27608	0.081	T	0.38887	-0.9640	10	0.20046	T	0.44	.	2.9689	0.05916	0.3762:0.3041:0.0:0.3197	.	60	Q9BZY9	TRI31_HUMAN	I	60	ENSP00000365924:V60I;ENSP00000444311:V60I	ENSP00000365918:V60I	V	-	1	0	TRIM31	30188384	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.589000	0.00900	-0.028000	0.13850	-0.395000	0.06472	GTA		0.473	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			13	228	0	0	0	0.00136819	0	13	228				
MFNG	4242	broad.mit.edu	37	22	37875495	37875495	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:37875495C>A	ENST00000356998.3	-	4	672	c.449G>T	c.(448-450)aGg>aTg	p.R150M	MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	150					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAGCAGCGCCCTTGGGTTCAC	0.617																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(448-450)aGg>aTg		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							87.0	75.0	79.0					22																	37875495		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37875495C>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.449G>T	22.37:g.37875495C>A	ENSP00000349490:p.Arg150Met					MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	p.R150M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			4	672	-	Melanoma(58;0.0574)		150					B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.449G>T	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	c	12.03	1.814329	0.32053	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000436341;ENST00000442496	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-0.11	5.18	1.32	0.21799	.	0.902730	0.09639	N	0.775216	T	0.72867	0.3514	L	0.49778	1.585	0.09310	N	1	P;P	0.47034	0.889;0.889	P;P	0.48524	0.58;0.58	T	0.61983	-0.6950	10	0.49607	T	0.09	-2.2344	1.4582	0.02390	0.156:0.4227:0.1534:0.2679	.	136;150	B4DLT6;O00587	.;MFNG_HUMAN	M	136;150;28;28	ENSP00000413855:R136M;ENSP00000349490:R150M;ENSP00000394081:R28M;ENSP00000389274:R28M	ENSP00000349490:R150M	R	-	2	0	MFNG	36205441	0.000000	0.05858	0.001000	0.08648	0.303000	0.27691	-0.372000	0.07504	0.518000	0.28383	0.486000	0.48141	AGG		0.617	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		4	80	1	0	1.23904e-05	0.000602214	3.53042e-05	4	80				
GRIK4	2900	broad.mit.edu	37	11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:120833172G>A	ENST00000527524.2	+	18	2335	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	683					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R683H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGAATTCCCGCTACCAGACC	0.483																																						ENST00000527524.2																			2	Substitution - Missense(2)	p.R683H(2)	large_intestine(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(2047-2049)cGc>cAc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						59.0	54.0	56.0					11																	120833172		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120833172G>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2048G>A	11.37:g.120833172G>A	ENSP00000435648:p.Arg683His					GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	p.R683H			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	18	2335	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	683					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2048G>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421485	0.96111	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11385	2.78;2.78	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.083443	0.85682	D	0.000000	T	0.32734	0.0839	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00834	-1.1547	10	0.87932	D	0	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	683;683	A6H8K8;Q16099	.;GRIK4_HUMAN	H	683	ENSP00000435648:R683H;ENSP00000404063:R683H	ENSP00000404063:R683H	R	+	2	0	GRIK4	120338382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.676000	0.91093	0.655000	0.94253	CGC		0.483	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		5	42	0	0	0	0.000602214	0	5	42				
LARP1	23367	broad.mit.edu	37	5	154181820	154181820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:154181820C>A	ENST00000336314.4	+	11	1763	c.1739C>A	c.(1738-1740)cCa>cAa	p.P580Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCGGCACCCAGGGGGGGAC	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1740)cCa>cAa		La ribonucleoprotein domain family, member 1							81.0	77.0	78.0					5																	154181820		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154181820C>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1739C>A	5.37:g.154181820C>A	ENSP00000336721:p.Pro580Gln						p.P580Q	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1763	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1739C>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270299	0.95429	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.34859	1.82;1.34;1.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.79805	2.47	0.80722	D	1	D;D	0.69078	0.997;0.961	D;D	0.63957	0.92;0.914	T	0.61530	-0.7044	10	0.49607	T	0.09	-10.0479	20.8794	0.99867	0.0:1.0:0.0:0.0	.	657;580	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	580;657;452	ENSP00000336721:P580Q;ENSP00000428589:P657Q;ENSP00000429904:P452Q	ENSP00000336721:P580Q	P	+	2	0	LARP1	154162013	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.755000	0.85180	2.941000	0.99782	0.655000	0.94253	CCA		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		6	196	1	0	0.00116845	0.00116845	0.00315632	6	196				
LRRFIP2	9209	broad.mit.edu	37	3	37125219	37125219	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:37125219A>G	ENST00000336686.4	-	19	1266	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000421307.1_Silent_p.L396L|LRRFIP2_ENST00000354379.4_Silent_p.L140L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	396					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.L396L(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGTAGATCAAATTGTTCTTC	0.353																																						ENST00000421307.1																			2	Whole gene deletion(1)|Substitution - coding silent(1)	p.L396L(1)|p.0?(1)	ovary(1)|prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1186-1188)Ttg>Ctg		leucine rich repeat (in FLII) interacting protein 2							201.0	192.0	195.0					3																	37125219		2203	4300	6503	SO:0001819	synonymous_variant	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37125219A>G	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1186T>C	3.37:g.37125219A>G						LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000354379.4_Silent_p.L140L|LRRFIP2_ENST00000396428.2_Silent_p.L212L	p.L396L	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			20	1608	-			396					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	c.1186T>C	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283280	0.23392	.	.	ENSG00000093167	ENST00000440742	.	.	.	5.78	0.213	0.15244	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48514	-0.9029	4	.	.	.	-11.0143	9.2501	0.37549	0.6723:0.0:0.3277:0.0	.	.	.	.	S	8	.	.	F	-	2	0	LRRFIP2	37100223	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.326000	0.43849	0.027000	0.15297	0.459000	0.35465	TTT		0.353	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		58	207	0	0	0	0.00361006	0	58	207				
KDR	3791	broad.mit.edu	37	4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:55956221G>A	ENST00000263923.4	-	23	3389	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1032	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		1	Substitution - Nonsense(1)	p.R1032*(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3094-3096)Cga>Tga		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						89.0	86.0	87.0					4																	55956221		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55956221G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3094C>T	4.37:g.55956221G>A	ENSP00000263923:p.Arg1032*	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.R1032*	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		23	3389	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1032			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3094C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	43	10.428062	0.99403	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.32	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7963	0.78412	0.0:0.0:0.8628:0.1372	.	.	.	.	X	1032	.	ENSP00000263923:R1032X	R	-	1	2	KDR	55650978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.160000	0.64929	1.364000	0.46038	0.563000	0.77884	CGA		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			7	210	0	0	0	0.00307968	0	7	210				
SLC2A6	11182	broad.mit.edu	37	9	136340607	136340607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136340607G>T	ENST00000371899.4	-	5	766	c.689C>A	c.(688-690)gCc>gAc	p.A230D	SLC2A6_ENST00000371897.4_Missense_Mutation_p.A230D|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	230					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.A230D(3)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCCCGCAGGGCCTCTTCGTC	0.667																																						ENST00000371899.4																			3	Substitution - Missense(3)	p.A230D(3)	prostate(2)|lung(1)	cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(688-690)gCc>gAc		solute carrier family 2 (facilitated glucose transporter), member 6							29.0	26.0	27.0					9																	136340607		2201	4298	6499	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136340607G>T	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.689C>A	9.37:g.136340607G>T	ENSP00000360966:p.Ala230Asp					SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.A230D	p.A230D	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	5	766	-			230					A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.689C>A	CCDS6975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870626|4.870626	0.91587|0.91587	.|.	.|.	ENSG00000160326|ENSG00000160326	ENST00000371897;ENST00000371899;ENST00000414172|ENST00000432868	D;D|D	0.83673|0.90620	-1.75;-1.75|-2.7	5.39|5.39	5.39|5.39	0.77823|0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.97062|0.97062	0.9040|0.9040	H|H	0.97077|0.97077	3.935|3.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.97265|0.97265	0.9907|0.9907	10|7	0.72032|0.41790	D|T	0.01|0.15	.|.	18.1313|18.1313	0.89602|0.89602	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	230;230|.	Q9UGQ3-2;Q9UGQ3|.	.;GTR6_HUMAN|.	D|T	230;230;120|192	ENSP00000360964:A230D;ENSP00000360966:A230D|ENSP00000405124:P192T	ENSP00000360964:A230D|ENSP00000405124:P192T	A|P	-|-	2|1	0|0	SLC2A6|SLC2A6	135330428|135330428	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.835000|0.835000	0.47333|0.47333	9.238000|9.238000	0.95380|0.95380	2.515000|2.515000	0.84797|0.84797	0.561000|0.561000	0.74099|0.74099	GCC|CCC		0.667	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		4	38	1	0	1.76689e-08	0.000442599	5.10436e-08	4	38				
DEPDC5	9681	broad.mit.edu	37	22	32229973	32229973	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:32229973G>A	ENST00000536766.1	+	22	2030	c.1859G>A	c.(1858-1860)aGg>aAg	p.R620K	DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000400246.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.?(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAAGTAAGAGGGGGCAGCTG	0.502																																						ENST00000536766.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1858-1860)aGg>aAg		DEP domain containing 5							160.0	154.0	156.0					22																	32229973		1903	4115	6018	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32229973G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000536766.1:c.1859G>A	22.37:g.32229973G>A	ENSP00000441358:p.Arg620Lys					DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000400248.1_Intron|DEPDC5_ENST00000400246.1_Intron	p.R620K			O75140	DEPD5_HUMAN			22	2030	+			0					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000536766.1	37	c.1859G>A		.	.	.	.	.	.	.	.	.	.	G	7.707	0.694361	0.15039	.	.	ENSG00000100150	ENST00000536766	T	0.31510	1.49	5.09	-0.468	0.12146	.	.	.	.	.	T	0.17577	0.0422	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12528	-1.0544	7	.	.	.	.	8.786	0.34821	0.5031:0.0:0.4969:0.0	.	620	F5GYZ8	.	K	620	ENSP00000441358:R620K	.	R	+	2	0	DEPDC5	30559973	.	.	0.939000	0.37840	0.884000	0.51177	.	.	-0.273000	0.09246	-0.269000	0.10298	AGG		0.502	DEPDC5-206	KNOWN	basic	protein_coding	protein_coding		NM_014662		23	452	0	0	0	0.00188189	0	23	452				
SPATA6	54558	broad.mit.edu	37	1	48865161	48865161	+	Silent	SNP	T	T	C	rs370483903		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:48865161T>C	ENST00000371847.3	-	7	806	c.642A>G	c.(640-642)aaA>aaG	p.K214K	SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.K142K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	214					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.K214K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGAGTGTGATTTTGAAGAAA	0.413																																						ENST00000371847.3																			1	Substitution - coding silent(1)	p.K214K(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(640-642)aaA>aaG		spermatogenesis associated 6							267.0	272.0	270.0					1																	48865161		2203	4300	6503	SO:0001819	synonymous_variant	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48865161T>C	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.642A>G	1.37:g.48865161T>C						SPATA6_ENST00000396199.3_Silent_p.K142K|SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR	p.K214K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			7	806	-			214					Q5T3N7|Q8WUE6	Silent	SNP	ENST00000371847.3	37	c.642A>G	CCDS551.1																																																																																				0.413	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		9	505	0	0	0	0.00448238	0	9	505				
KRT14	3861	broad.mit.edu	37	17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:39741238G>C	ENST00000167586.6	-	2	683	c.597C>G	c.(595-597)gaC>gaG	p.D199E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	199	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.D199E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGCGGAAGTCATCCGCGG	0.502																																						ENST00000167586.6																			1	Substitution - Missense(1)	p.D199E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(595-597)gaC>gaG		keratin 14							94.0	73.0	80.0					17																	39741238		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39741238G>C	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.597C>G	17.37:g.39741238G>C	ENSP00000167586:p.Asp199Glu						p.D199E	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			2	683	-		Breast(137;0.000307)	199			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.597C>G	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369649	0.82573	.	.	ENSG00000186847	ENST00000167586	D	0.89123	-2.47	5.44	4.47	0.54385	Filament (1);	0.000000	0.51477	D	0.000098	D	0.94542	0.8242	M	0.87758	2.905	0.47123	D	0.999321	D	0.59357	0.985	D	0.67382	0.951	D	0.95322	0.8421	10	0.87932	D	0	.	14.2756	0.66177	0.0718:0.0:0.9282:0.0	.	199	P02533	K1C14_HUMAN	E	199	ENSP00000167586:D199E	ENSP00000167586:D199E	D	-	3	2	KRT14	36994764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.274000	0.51631	1.433000	0.47394	0.643000	0.83706	GAC		0.502	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	96	0	0	0	0.000602214	0	4	96				
IFT80	57560	broad.mit.edu	37	3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:160037613C>T	ENST00000326448.7	-	9	1324	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IFT80_ENST00000483465.1_Missense_Mutation_p.V161M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	298					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.V298M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCACCACATGTGCAAAA	0.398																																						ENST00000326448.7																			1	Substitution - Missense(1)	p.V298M(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(892-894)Gtg>Atg		intraflagellar transport 80 homolog (Chlamydomonas)							125.0	124.0	124.0					3																	160037613		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160037613C>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.892G>A	3.37:g.160037613C>T	ENSP00000312778:p.Val298Met					IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M	p.V298M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		9	1324	-			298					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.892G>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096380	0.76870	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.18657	2.2;4.94;4.94	4.7	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.117209	0.33772	U	0.004575	T	0.30634	0.0771	M	0.75777	2.31	0.46564	D	0.999107	P	0.50272	0.933	P	0.48030	0.564	T	0.10474	-1.0628	10	0.62326	D	0.03	.	9.8599	0.41107	0.0:0.8408:0.0:0.1592	.	298	Q9P2H3	IFT80_HUMAN	M	298;161;161	ENSP00000312778:V298M;ENSP00000418196:V161M;ENSP00000420646:V161M	ENSP00000312778:V298M	V	-	1	0	IFT80	161520307	0.879000	0.30193	1.000000	0.80357	0.989000	0.77384	1.651000	0.37302	1.291000	0.44653	0.555000	0.69702	GTG		0.398	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		8	219	0	0	0	0.00307968	0	8	219				
WDR81	124997	broad.mit.edu	37	17	1633695	1633695	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:1633695G>T	ENST00000409644.1	+	2	3689	c.3689G>T	c.(3688-3690)cGc>cTc	p.R1230L	WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1230					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R179L(2)|p.R27L(2)|p.R1230L(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAGATGGTCCGCTGGCTGTCT	0.657																																						ENST00000409644.1																			5	Substitution - Missense(5)	p.R179L(2)|p.R27L(2)|p.R1230L(1)	kidney(3)|prostate(2)	cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3688-3690)cGc>cTc		WD repeat domain 81							31.0	30.0	30.0					17																	1633695		2203	4300	6503	SO:0001583	missense	124997							g.chr17:1633695G>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3689G>T	17.37:g.1633695G>T	ENSP00000386609:p.Arg1230Leu					WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L|RP11-961A15.1_ENST00000576540.1_RNA	p.R1230L	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	3689	+			3					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.3689G>T	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026019	0.54683	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.49;2.12	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.967;1.0;0.983	B;D;P	0.81914	0.435;0.995;0.533	T	0.04360	-1.0957	10	0.23302	T	0.38	.	19.3746	0.94503	0.0:0.0:1.0:0.0	.	27;357;179	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	L	27;27;179;3;1230	ENSP00000395226:R27L;ENSP00000391074:R27L;ENSP00000312074:R179L;ENSP00000407845:R3L;ENSP00000386609:R1230L	ENSP00000312074:R179L	R	+	2	0	WDR81	1580445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.394000	0.97261	2.584000	0.87258	0.563000	0.77884	CGC		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		3	39	1	0	6.4e-05	6.4e-05	0.000177493	3	39				
PLA2G2A	5320	broad.mit.edu	37	1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:20304968C>G	ENST00000375111.3	-	4	361	c.90G>C	c.(88-90)aaG>aaC	p.K30N	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	30					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)	p.K30N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTGTCGTCAACTTGATCATTC	0.557																																						ENST00000375111.3																			1	Substitution - Missense(1)	p.K30N(1)	prostate(1)	central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(88-90)aaG>aaC		phospholipase A2, group IIA (platelets, synovial fluid)							87.0	84.0	85.0					1																	20304968		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20304968C>G	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.90G>C	1.37:g.20304968C>G	ENSP00000364252:p.Lys30Asn					PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR	p.K30N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	361	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	30					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.90G>C	CCDS201.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279107	0.40294	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.27720	1.65;1.65	5.07	-1.78	0.07957	Phospholipase A2 (3);	4.811600	0.00424	N	0.000073	T	0.34803	0.0910	M	0.63208	1.945	0.09310	N	1	P	0.39940	0.696	P	0.46208	0.507	T	0.17684	-1.0361	10	0.18710	T	0.47	.	3.3918	0.07291	0.2824:0.3661:0.0:0.3515	.	30	P14555	PA2GA_HUMAN	N	30	ENSP00000383364:K30N;ENSP00000364252:K30N	ENSP00000364252:K30N	K	-	3	2	PLA2G2A	20177555	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.917000	0.01575	-0.221000	0.09973	0.462000	0.41574	AAG		0.557	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		12	61	0	0	0	0.00136819	0	12	61				
KIF21B	23046	broad.mit.edu	37	1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:200978472C>A	ENST00000422435.2	-	2	502	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H|KIF21B_ENST00000332129.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	62	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q62H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAATAGATCTGTTCTTGCC	0.572																																						ENST00000332129.2																			1	Substitution - Missense(1)	p.Q62H(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(184-186)caG>caT		kinesin family member 21B							132.0	122.0	125.0					1																	200978472		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978472C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.186G>T	1.37:g.200978472C>A	ENSP00000411831:p.Gln62His					KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H	p.Q62H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			2	502	-			62			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.186G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516598	0.27123	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	4.53	1.52	0.23074	Kinesin, motor domain (4);	0.378762	0.27759	N	0.017961	T	0.57902	0.2085	N	0.25485	0.75	0.35137	D	0.768488	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.003;0.003;0.005;0.002	T	0.58081	-0.7699	10	0.54805	T	0.06	.	7.7555	0.28921	0.0:0.6561:0.0:0.3439	.	62;62;62;62	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	H	62	ENSP00000328494:Q62H;ENSP00000353724:Q62H;ENSP00000433808:Q62H;ENSP00000411831:Q62H	ENSP00000328494:Q62H	Q	-	3	2	KIF21B	199245095	1.000000	0.71417	0.986000	0.45419	0.795000	0.44927	0.903000	0.28475	0.513000	0.28278	0.650000	0.86243	CAG		0.572	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		11	99	1	0	3.86212e-05	0.000673444	0.000108557	11	99				
SLC22A7	10864	broad.mit.edu	37	6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTGTCGGTGCGCTACGCAGG	0.637																																						ENST00000372585.5																			1	Substitution - Missense(1)	p.R398C(1)	prostate(1)	NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(1192-1194)Cgc>Tgc		solute carrier family 22 (organic anion transporter), member 7							85.0	70.0	75.0					6																	43270068		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43270068C>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1192C>T	6.37:g.43270068C>T	ENSP00000361666:p.Arg398Cys					SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	p.R398C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		8	1287	+			398					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.1192C>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262101	0.59431	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.65916	-0.18;-0.18;-0.18;0.23	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343274	0.31859	N	0.006947	T	0.74749	0.3757	M	0.86178	2.8	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.975;0.975	T	0.78219	-0.2289	10	0.56958	D	0.05	.	11.5165	0.50524	0.1789:0.8211:0.0:0.0	.	398;396;396	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	C	396;398;396;91	ENSP00000361670:R396C;ENSP00000361666:R398C;ENSP00000361655:R396C;ENSP00000393836:R91C	ENSP00000361655:R396C	R	+	1	0	SLC22A7	43378046	1.000000	0.71417	0.839000	0.33178	0.639000	0.38242	2.351000	0.44071	2.468000	0.83385	0.462000	0.41574	CGC		0.637	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			14	35	0	0	0	0.00316338	0	14	35				
MYL6	4637	broad.mit.edu	37	12	56554425	56554425	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554425T>G	ENST00000550697.1	+	6	684	c.443T>G	c.(442-444)aTc>aGc	p.I148S	MYL6_ENST00000549566.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548400.1_Missense_Mutation_p.I112S	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	148	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I148S(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GTGAGGCATATCCTGTCGGGG	0.547																																						ENST00000550697.1																			1	Substitution - Missense(1)	p.I148S(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(442-444)aTc>aGc		myosin, light chain 6, alkali, smooth muscle and non-muscle							203.0	184.0	190.0					12																	56554425		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56554425T>G	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.443T>G	12.37:g.56554425T>G	ENSP00000446955:p.Ile148Ser					MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S	p.I148S	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		6	684	+			148			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.443T>G	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705002	0.68615	.	.	ENSG00000092841	ENST00000550697;ENST00000348108;ENST00000548400;ENST00000548293	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	4.14	4.14	0.48551	EF-hand-like domain (1);	.	.	.	.	D	0.82655	0.5084	M	0.86097	2.795	0.53688	D	0.999977	B	0.24618	0.107	B	0.28991	0.097	D	0.83812	0.0242	9	0.87932	D	0	.	12.6043	0.56514	0.0:0.0:0.0:1.0	.	148	P60660	MYL6_HUMAN	S	148;149;112;148	ENSP00000446955:I148S;ENSP00000301540:I149S;ENSP00000448859:I112S;ENSP00000448101:I148S	ENSP00000301540:I149S	I	+	2	0	MYL6	54840692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.669000	0.74462	1.895000	0.54865	0.459000	0.35465	ATC		0.547	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			14	342	0	0	0	0.00283554	0	14	342				
SPG20	23111	broad.mit.edu	37	13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:36886567G>A	ENST00000451493.1	-	7	1748	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S|SPG20_ENST00000355182.4_Missense_Mutation_p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	511					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.P511S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGACATGTGGAGCTAGTTCT	0.368																																						ENST00000451493.1																			1	Substitution - Missense(1)	p.P511S(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1531-1533)Cca>Tca		spastic paraplegia 20 (Troyer syndrome)							139.0	136.0	137.0					13																	36886567		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36886567G>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1531C>T	13.37:g.36886567G>A	ENSP00000414147:p.Pro511Ser					SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S|SPG20_ENST00000355182.4_Missense_Mutation_p.P511S	p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	7	1748	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	511					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1531C>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207575	0.95033	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89681	-2.55;-2.55;-2.55	6.16	6.16	0.99307	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91908	0.5537	10	0.20046	T	0.44	-20.2932	20.8598	0.99761	0.0:0.0:1.0:0.0	.	511;511	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	S	511	ENSP00000406061:P511S;ENSP00000347314:P511S;ENSP00000414147:P511S	ENSP00000347314:P511S	P	-	1	0	SPG20	35784567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.987000	0.93497	2.937000	0.99478	0.650000	0.86243	CCA		0.368	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			42	283	0	0	0	0.00195071	0	42	283				
HAVCR1	26762	broad.mit.edu	37	5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:156479438G>A	ENST00000339252.3	-	3	1139	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.P203S(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCACTGGAACACTTGTT	0.468																																						ENST00000339252.3																			1	Substitution - Missense(1)	p.P203S(1)	prostate(1)	endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(607-609)Cca>Tca		hepatitis A virus cellular receptor 1							360.0	352.0	355.0					5																	156479438		2068	4209	6277	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479438G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.607C>T	5.37:g.156479438G>A	ENSP00000344844:p.Pro203Ser					HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S	p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1139	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	198			Thr-rich.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.607C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901641	0.33535	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.23552	2.07;2.11;2.11;2.07;2.11;1.9	3.32	2.43	0.29744	.	.	.	.	.	T	0.20210	0.0486	N	0.14661	0.345	0.26389	N	0.976618	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.51170	0.661;0.568;0.568	T	0.08576	-1.0715	9	0.33141	T	0.24	-11.6421	8.2785	0.31887	0.1233:0.0:0.8767:0.0	.	203;198;198	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	203	ENSP00000428524:P203S;ENSP00000427898:P203S;ENSP00000344844:P203S;ENSP00000403333:P203S;ENSP00000440258:P203S;ENSP00000428422:P203S	ENSP00000344844:P203S	P	-	1	0	HAVCR1	156412016	0.939000	0.31865	0.270000	0.24601	0.035000	0.12851	0.912000	0.28597	0.742000	0.32697	0.543000	0.68304	CCA		0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			67	448	0	0	0	0.00361006	0	67	448				
XIRP2	129446	broad.mit.edu	37	2	168099282	168099282	+	Silent	SNP	T	T	G	rs371638628		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:168099282T>G	ENST00000409195.1	+	9	1469	c.1380T>G	c.(1378-1380)ctT>ctG	p.L460L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	285					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L460L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGACGTACTTCAAACTTCAG	0.448																																						ENST00000409195.1																			1	Substitution - coding silent(1)	p.L460L(1)	prostate(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1378-1380)ctT>ctG		xin actin-binding repeat containing 2							86.0	81.0	83.0					2																	168099282		1913	4118	6031	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099282T>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1380T>G	2.37:g.168099282T>G						XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000295237.9_Silent_p.L460L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	p.L460L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1469	+			285					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.1380T>G	CCDS42769.1																																																																																				0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	188	0	0	0	0.00395357	0	24	188				
MT-ND4	4538	broad.mit.edu	37	M	10869	10869	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrM:10869T>C	ENST00000361381.2	+	1	110	c.110T>C	c.(109-111)aTc>aCc	p.I37T	MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	37					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						TATTAGCATCATCCCCCTACT	0.398																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(109-111)aTc>aCc		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:10869T>C			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.110T>C	M.37:g.10869T>C	ENSP00000354961:p.Ile37Thr						p.37_37insT							1	110	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.110T>C																																																																																					0.398	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		2	3	0	0	0	6.4e-05	0	2	3				
GALNT8	26290	broad.mit.edu	37	12	4874640	4874640	+	Silent	SNP	G	G	A	rs192391682		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:4874640G>A	ENST00000252318.2	+	10	2026	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	563	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A563A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTGGCAAGGCGGAGAAGCCCA	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		18368	0.001		0.0	False		,,,				2504	0.0				Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			1	Substitution - coding silent(1)	p.A563A(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1687-1689)gcG>gcA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							132.0	126.0	128.0					12																	4874640		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874640G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1689G>A	12.37:g.4874640G>A							p.A563A	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			10	2026	+			563			Ricin B-type lectin.		B2RU02	Silent	SNP	ENST00000252318.2	37	c.1689G>A	CCDS8533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	3.374	-0.127801	0.06753	.	.	ENSG00000130035	ENST00000542998;ENST00000535354	.	.	.	4.19	1.31	0.21738	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.21020	N	0.999806	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	6.6625	0.23022	0.3137:0.0:0.6863:0.0	.	.	.	.	Q	80;59	.	.	R	+	2	0	GALNT8	4744901	0.120000	0.22244	0.019000	0.16419	0.005000	0.04900	0.083000	0.14871	0.439000	0.26476	-0.698000	0.03680	CGG		0.463	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		5	98	0	0	0	0.000602214	0	5	98				
DPY19L2	283417	broad.mit.edu	37	12	63976243	63976243	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:63976243T>C	ENST00000324472.4	-	18	1851	c.1668A>G	c.(1666-1668)ctA>ctG	p.L556L	DPY19L2_ENST00000413230.2_Silent_p.L3L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	556					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L556L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAACATCTTTAGCCTCATAA	0.343																																						ENST00000324472.4																			1	Substitution - coding silent(1)	p.L556L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1666-1668)ctA>ctG		dpy-19-like 2 (C. elegans)							70.0	64.0	66.0					12																	63976243		2203	4300	6503	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63976243T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1668A>G	12.37:g.63976243T>C						DPY19L2_ENST00000413230.2_Silent_p.L3L	p.L556L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	18	1851	-			556					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.1668A>G	CCDS31851.1																																																																																				0.343	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		23	82	0	0	0	0.00465635	0	23	82				
SLC6A15	55117	broad.mit.edu	37	12	85270374	85270374	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:85270374T>A	ENST00000266682.5	-	6	1310	c.769A>T	c.(769-771)Agt>Tgt	p.S257C	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.S150C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	257					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.S257C(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AACAGAGAACTAAAATATATG	0.303																																						ENST00000266682.5																			1	Substitution - Missense(1)	p.S257C(1)	prostate(1)	kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(769-771)Agt>Tgt		solute carrier family 6 (neutral amino acid transporter), member 15							57.0	60.0	59.0					12																	85270374		2203	4298	6501	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270374T>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.769A>T	12.37:g.85270374T>A	ENSP00000266682:p.Ser257Cys					SLC6A15_ENST00000552192.1_Missense_Mutation_p.S150C|SLC6A15_ENST00000551388.1_5'UTR	p.S257C	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			6	1310	-			257					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.769A>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435748	0.62955	.	.	ENSG00000072041	ENST00000266682;ENST00000552192	T;T	0.76448	-1.02;-1.02	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89972	0.4094	10	0.87932	D	0	.	16.2045	0.82114	0.0:0.0:0.0:1.0	.	257	Q9H2J7	S6A15_HUMAN	C	257;150	ENSP00000266682:S257C;ENSP00000450145:S150C	ENSP00000266682:S257C	S	-	1	0	SLC6A15	83794505	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	7.698000	0.84413	2.234000	0.73211	0.459000	0.35465	AGT		0.303	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		5	141	0	0	0	0.000602214	0	5	141				
TP53TG5	27296	broad.mit.edu	37	20	44004137	44004137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr20:44004137C>T	ENST00000372726.3	-	4	466	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.G88R|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	104					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G104R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCGGAGCACCCGATCTCCTGG	0.502																																						ENST00000372726.3																			1	Substitution - Missense(1)	p.G104R(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(310-312)Ggg>Agg		TP53 target 5							115.0	125.0	121.0					20																	44004137		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44004137C>T	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.310G>A	20.37:g.44004137C>T	ENSP00000361811:p.Gly104Arg					SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000537995.1_Missense_Mutation_p.G88R|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron	p.G104R	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	466	-			104						Missense_Mutation	SNP	ENST00000372726.3	37	c.310G>A	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	2.806	-0.247964	0.05867	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.13538	2.58;2.58	4.46	-2.33	0.06724	.	1.020300	0.07778	N	0.952945	T	0.08802	0.0218	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.41251	-0.9519	10	0.21540	T	0.41	0.0078	11.9292	0.52837	0.0:0.7523:0.0:0.2477	.	104	Q9Y2B4	T53G5_HUMAN	R	104;88	ENSP00000361811:G104R;ENSP00000438374:G88R	ENSP00000361811:G104R	G	-	1	0	TP53TG5	43437551	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.304000	0.01134	-0.419000	0.07439	-0.345000	0.07892	GGG		0.502	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		43	326	0	0	0	0.00195071	0	43	326				
LRGUK	136332	broad.mit.edu	37	7	133859312	133859312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:133859312C>T	ENST00000285928.2	+	8	1013	c.944C>T	c.(943-945)gCt>gTt	p.A315V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	315						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.A315V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAACAGATTGCTGAGCTGAGA	0.313																																						ENST00000285928.2																			2	Substitution - Missense(2)	p.A315V(2)	prostate(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(943-945)gCt>gTt		leucine-rich repeats and guanylate kinase domain containing							53.0	63.0	60.0					7																	133859312		2202	4296	6498	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133859312C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.944C>T	7.37:g.133859312C>T	ENSP00000285928:p.Ala315Val						p.A315V	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			8	1013	+			315					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.944C>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714000	0.48622	.	.	ENSG00000155530	ENST00000285928	T	0.24538	1.85	5.61	3.72	0.42706	.	0.413089	0.24443	N	0.038491	T	0.24586	0.0596	L	0.55103	1.725	0.23346	N	0.997867	B	0.24533	0.105	B	0.24006	0.05	T	0.20174	-1.0283	10	0.62326	D	0.03	-3.1388	9.254	0.37573	0.3031:0.5588:0.1381:0.0	.	315	Q96M69	LRGUK_HUMAN	V	315	ENSP00000285928:A315V	ENSP00000285928:A315V	A	+	2	0	LRGUK	133509852	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	1.523000	0.35932	0.644000	0.30656	0.462000	0.41574	GCT		0.313	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		6	185	0	0	0	0.00198382	0	6	185				
PCDH17	27253	broad.mit.edu	37	13	58208844	58208844	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:58208844G>A	ENST00000377918.3	+	1	2190	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	722					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTCCTAGCGGCCATGATCAC	0.617																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2164-2166)Gcc>Acc		protocadherin 17							78.0	76.0	77.0					13																	58208844		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208844G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2164G>A	13.37:g.58208844G>A	ENSP00000367151:p.Ala722Thr						p.A722T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2190	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	722					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2164G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816140	0.32145	.	.	ENSG00000118946	ENST00000377918	T	0.53206	0.63	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	N	0.16266	0.395	0.80722	D	1	B;B	0.25904	0.088;0.137	B;B	0.24006	0.05;0.039	T	0.10870	-1.0611	9	.	.	.	.	19.3157	0.94213	0.0:0.0:1.0:0.0	.	722;722	O14917-2;O14917	.;PCD17_HUMAN	T	722	ENSP00000367151:A722T	.	A	+	1	0	PCDH17	57106845	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.869000	0.99810	2.551000	0.86045	0.655000	0.94253	GCC		0.617	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	84	0	0	0	0.00024832	0	4	84				
IPO9	55705	broad.mit.edu	37	1	201836000	201836000	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:201836000G>A	ENST00000361565.4	+	15	1837	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	590					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTGTGCATCGTTTGTACAGT	0.517																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1768-1770)Gtt>Att		importin 9							168.0	151.0	157.0					1																	201836000		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201836000G>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1768G>A	1.37:g.201836000G>A	ENSP00000354742:p.Val590Ile						p.V590I	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			15	1837	+			590					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.1768G>A	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150154	0.78001	.	.	ENSG00000198700	ENST00000361565	T	0.62364	0.03	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	L	0.43152	1.355	0.80722	D	1	P	0.45715	0.865	B	0.29176	0.099	T	0.51364	-0.8715	10	0.25106	T	0.35	-8.301	18.0507	0.89347	0.0:0.0:1.0:0.0	.	590	Q96P70	IPO9_HUMAN	I	590	ENSP00000354742:V590I	ENSP00000354742:V590I	V	+	1	0	IPO9	200102623	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.339000	0.96797	2.861000	0.98227	0.655000	0.94253	GTT		0.517	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		6	290	0	0	0	0.00198382	0	6	290				
DOCK10	55619	broad.mit.edu	37	2	225670001	225670001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:225670001G>A	ENST00000258390.7	-	36	4040	c.3973C>T	c.(3973-3975)Cga>Tga	p.R1325*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.R1319*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1325					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGTCAAATCGAAGAGTTGAG	0.398																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3955-3957)Cga>Tga		dedicator of cytokinesis 10							143.0	136.0	138.0					2																	225670001		1874	4095	5969	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225670001G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3973C>T	2.37:g.225670001G>A	ENSP00000258390:p.Arg1325*					DOCK10_ENST00000258390.7_Nonsense_Mutation_p.R1325*	p.R1319*			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	36	4068	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1325					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.3955C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	36	5.929490	0.97116	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.74	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7301	0.85432	0.0:0.0:0.8705:0.1295	.	.	.	.	X	1319;1325	.	ENSP00000258390:R1325X	R	-	1	2	DOCK10	225378245	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.234000	0.78134	2.873000	0.98535	0.561000	0.74099	CGA		0.398	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	337	0	0	0	0.00307968	0	7	337				
FBXL7	23194	broad.mit.edu	37	5	15928553	15928553	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:15928553G>A	ENST00000504595.1	+	3	1163	c.682G>A	c.(682-684)Gag>Aag	p.E228K	FBXL7_ENST00000329673.7_Missense_Mutation_p.E216K|FBXL7_ENST00000510662.1_Missense_Mutation_p.E181K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	228					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TATCTCCAACGAGGCCGTCTT	0.582																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(682-684)Gag>Aag		F-box and leucine-rich repeat protein 7							110.0	105.0	106.0					5																	15928553		2031	4187	6218	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928553G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.682G>A	5.37:g.15928553G>A	ENSP00000423630:p.Glu228Lys					FBXL7_ENST00000510662.1_Missense_Mutation_p.E181K|FBXL7_ENST00000329673.7_Missense_Mutation_p.E216K	p.E228K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	1163	+			228					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.682G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927010	0.34002	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.01304	5.03;5.03;5.03	5.24	5.24	0.73138	.	0.047036	0.85682	D	0.000000	T	0.01835	0.0058	L	0.48935	1.535	0.58432	D	0.999997	B	0.27765	0.188	B	0.15870	0.014	T	0.53049	-0.8493	10	0.07030	T	0.85	.	18.817	0.92079	0.0:0.0:1.0:0.0	.	228	Q9UJT9	FBXL7_HUMAN	K	228;181;216	ENSP00000423630:E228K;ENSP00000425184:E181K;ENSP00000329632:E216K	ENSP00000329632:E216K	E	+	1	0	FBXL7	15981553	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.876000	0.87215	2.458000	0.83093	0.561000	0.74099	GAG		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	173	0	0	0	0.000602214	0	5	173				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	6	0	0	0	0.000602214	0	4	6				
TRIP12	9320	broad.mit.edu	37	2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:230657838T>C	ENST00000283943.5	-	26	3945	c.3767A>G	c.(3766-3768)cAg>cGg	p.Q1256R	TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R|TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1256					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1256R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTAAAGCCTGTGATCCTCT	0.328																																						ENST00000283943.5																			1	Substitution - Missense(1)	p.Q1256R(1)	prostate(1)	breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3766-3768)cAg>cGg		thyroid hormone receptor interactor 12							68.0	71.0	70.0					2																	230657838		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230657838T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3767A>G	2.37:g.230657838T>C	ENSP00000283943:p.Gln1256Arg					TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	p.Q1256R	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	26	3945	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1256					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.3767A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657562	0.88154	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47528	0.84;1.13;0.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	P;D;P	0.54601	0.851;0.967;0.851	P;P;P	0.55391	0.775;0.696;0.775	T	0.54549	-0.8277	10	0.36615	T	0.2	.	15.7974	0.78423	0.0:0.0:0.0:1.0	.	986;1304;1256	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	R	1256;986;1304	ENSP00000283943:Q1256R;ENSP00000373697:Q986R;ENSP00000373696:Q1304R	ENSP00000283943:Q1256R	Q	-	2	0	TRIP12	230366082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.572000	0.82409	2.115000	0.64714	0.528000	0.53228	CAG		0.328	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		16	119	0	0	0	0.00316338	0	16	119				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	103	0	0	0	6.4e-05	0	3	103				
ALDH3A2	224	broad.mit.edu	37	17	19559759	19559759	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:19559759G>A	ENST00000176643.6	+	4	998	c.552G>A	c.(550-552)acG>acA	p.T184T	ALDH3A2_ENST00000339618.4_Silent_p.T184T|ALDH3A2_ENST00000581518.1_Silent_p.T184T|ALDH3A2_ENST00000395575.2_Silent_p.T184T|ALDH3A2_ENST00000579855.1_Silent_p.T184T			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	184			T -> M (in SLS; severe loss of activity). {ECO:0000269|PubMed:10577908}.|T -> R (in SLS; severe loss of activity). {ECO:0000269|PubMed:10577908}.		cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.T184T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TTTTCTATACGGGAAACACTG	0.438																																						ENST00000176643.6																			1	Substitution - coding silent(1)	p.T184T(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13						c.(550-552)acG>acA		aldehyde dehydrogenase 3 family, member A2	NADH(DB00157)						116.0	110.0	112.0					17																	19559759		2203	4300	6503	SO:0001819	synonymous_variant	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19559759G>A	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.552G>A	17.37:g.19559759G>A						ALDH3A2_ENST00000581518.1_Silent_p.T184T|ALDH3A2_ENST00000579855.1_Silent_p.T184T|ALDH3A2_ENST00000339618.4_Silent_p.T184T|ALDH3A2_ENST00000395575.2_Silent_p.T184T	p.T184T			P51648	AL3A2_HUMAN			4	998	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		184		T -> M (in SLS; severe loss of activity).|T -> R (in SLS; severe loss of activity).			Q6I9T3|Q93011|Q96J37	Silent	SNP	ENST00000176643.6	37	c.552G>A	CCDS11210.1																																																																																				0.438	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			32	167	0	0	0	0.0024448	0	32	167				
MX1	4599	broad.mit.edu	37	21	42807818	42807818	+	Missense_Mutation	SNP	G	G	A	rs368357662		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr21:42807818G>A	ENST00000398600.2	+	8	1185	c.160G>A	c.(160-162)Gac>Aac	p.D54N	MX1_ENST00000455164.2_Missense_Mutation_p.D54N|MX1_ENST00000288383.6_Missense_Mutation_p.D54N|MX1_ENST00000398598.3_Missense_Mutation_p.D54N	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	54					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D54N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CCCCTGCATCGACCTCATTGA	0.582																																						ENST00000398600.2																			1	Substitution - Missense(1)	p.D54N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(160-162)Gac>Aac		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)		G	ASN/ASP,ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	97.0	96.0	96.0		160,160,160	4.5	1.0	21		96	0,8600		0,0,4300	no	missense,missense,missense	MX1	NM_001144925.1,NM_001178046.1,NM_002462.3	23,23,23	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	54/663,54/663,54/663	42807818	2,13004	2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42807818G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.160G>A	21.37:g.42807818G>A	ENSP00000381601:p.Asp54Asn					MX1_ENST00000398598.3_Missense_Mutation_p.D54N|MX1_ENST00000288383.6_Missense_Mutation_p.D54N|MX1_ENST00000455164.2_Missense_Mutation_p.D54N	p.D54N	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			8	1185	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	54					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.160G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501500	0.96371	4.54E-4	0.0	ENSG00000157601	ENST00000398600;ENST00000413778;ENST00000398598;ENST00000455164;ENST00000424365;ENST00000417963;ENST00000441677;ENST00000288383	D;D;D;D;D;D	0.96168	-2.75;-2.75;-2.75;-3.93;-3.93;-3.18	4.48	4.48	0.54585	Dynamin, GTPase domain (1);	0.045838	0.85682	D	0.000000	D	0.97867	0.9299	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98745	1.0718	10	0.87932	D	0	-64.1744	16.5923	0.84769	0.0:0.0:1.0:0.0	.	54	P20591	MX1_HUMAN	N	54	ENSP00000381601:D54N;ENSP00000381599:D54N;ENSP00000410523:D54N;ENSP00000400923:D54N;ENSP00000402215:D54N;ENSP00000288383:D54N	ENSP00000288383:D54N	D	+	1	0	MX1	41729688	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	6.628000	0.74262	2.445000	0.82738	0.561000	0.74099	GAC		0.582	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			7	150	0	0	0	0.00448238	0	7	150				
TRAF3IP3	80342	broad.mit.edu	37	1	209953928	209953928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:209953928C>T	ENST00000367024.1	+	15	1942	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Q476*			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	476						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAGACTTTGCAGCTCCAGGC	0.527																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1426-1428)Cag>Tag		TRAF3 interacting protein 3							75.0	77.0	76.0					1																	209953928		2203	4300	6503	SO:0001587	stop_gained	80342					integral to membrane	protein binding	g.chr1:209953928C>T		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1426C>T	1.37:g.209953928C>T	ENSP00000355991:p.Gln476*					TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Q476*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Q456*	p.Q476*			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	15	1942	+			476					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Nonsense_Mutation	SNP	ENST00000367024.1	37	c.1426C>T	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	43	10.156841	0.99349	.	.	ENSG00000009790	ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.8775	15.9926	0.80217	0.0:1.0:0.0:0.0	.	.	.	.	X	476;456;476;456	.	ENSP00000010338:Q456X	Q	+	1	0	TRAF3IP3	208020551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.894000	0.48640	2.422000	0.82143	0.655000	0.94253	CAG		0.527	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			4	125	0	0	0	0.00024832	0	4	125				
SH3PXD2B	285590	broad.mit.edu	37	5	171821588	171821588	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:171821588T>G	ENST00000311601.5	-	4	458	c.288A>C	c.(286-288)atA>atC	p.I96I	SH3PXD2B_ENST00000519643.1_Silent_p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.I96I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATCAATTGGTATCAGGCGTT	0.468																																						ENST00000311601.5																			1	Substitution - coding silent(1)	p.I96I(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(286-288)atA>atC		SH3 and PX domains 2B							101.0	94.0	97.0					5																	171821588		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171821588T>G	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.288A>C	5.37:g.171821588T>G						SH3PXD2B_ENST00000519643.1_Silent_p.I96I	p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	458	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	96			PX.		B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.288A>C	CCDS34291.1																																																																																				0.468	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		9	67	0	0	0	0.000442599	0	9	67				
MORC1	27136	broad.mit.edu	37	3	108724127	108724127	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:108724127G>A	ENST00000483760.1	-	18	1783	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	MORC1_ENST00000232603.5_Silent_p.G601G					MORC family CW-type zinc finger 1									p.G601G(2)		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						TCAAGTCATCGCCCAAAAGCC	0.353																																						ENST00000232603.5																			2	Substitution - coding silent(2)	p.G601G(2)	prostate(1)|lung(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.(1801-1803)ggC>ggT		MORC family CW-type zinc finger 1							43.0	43.0	43.0					3																	108724127		2203	4299	6502	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724127G>A	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.1740C>T	3.37:g.108724127G>A						MORC1_ENST00000483760.1_Silent_p.G580G	p.G601G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			19	1885	-			601						Silent	SNP	ENST00000483760.1	37	c.1803C>T																																																																																					0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	153	0	0	0	0.00198382	0	7	153				
BCOR	54880	broad.mit.edu	37	X	39914706	39914706	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:39914706A>G	ENST00000378444.4	-	12	4884	c.4656T>C	c.(4654-4656)taT>taC	p.Y1552Y	BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000342274.4_Silent_p.Y1518Y|BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1552					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y1518Y(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCACCATAAGAGAGAA	0.453			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		2	Substitution - coding silent(2)	p.Y1518Y(2)	prostate(2)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4552-4554)taT>taC		BCL6 corepressor							137.0	113.0	121.0					X																	39914706		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39914706A>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4656T>C	X.37:g.39914706A>G						BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y	p.Y1518Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			12	4916	-			1552					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4554T>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	4.786	0.146077	0.09134	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.53	-0.201	0.13212	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56318	-0.7999	4	.	.	.	-11.723	12.5498	0.56220	0.7248:0.0:0.2752:0.0	.	.	.	.	T	247	.	.	M	-	2	0	BCOR	39799650	1.000000	0.71417	0.995000	0.50966	0.430000	0.31655	1.113000	0.31184	-0.050000	0.13356	-1.351000	0.01236	ATG		0.453	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		8	83	0	0	0	0.000673444	0	8	83				
CHP1	11261	broad.mit.edu	37	15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:41523608C>T	ENST00000334660.5	+	1	268	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EXD1_ENST00000559743.1_5'Flank|EXD1_ENST00000458580.2_5'Flank|EXD1_ENST00000314992.5_5'Flank|CHP1_ENST00000558351.1_Intron|CHP1_ENST00000560397.1_Missense_Mutation_p.R10W	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	10					calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.R10W(1)									CACGTTACTGCGGGACGAAGA	0.677																																						ENST00000334660.5																			1	Substitution - Missense(1)	p.R10W(1)	prostate(1)								c.(28-30)Cgg>Tgg		calcineurin-like EF-hand protein 1							35.0	24.0	28.0					15																	41523608		2198	4300	6498	SO:0001583	missense	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41523608C>T		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.28C>T	15.37:g.41523608C>T	ENSP00000335632:p.Arg10Trp					CHP1_ENST00000558351.1_Intron|CHP1_ENST00000560397.1_Missense_Mutation_p.R10W	p.R10W	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN			1	268	+			10					B2R6H9|Q6FHZ9	Missense_Mutation	SNP	ENST00000334660.5	37	c.28C>T	CCDS10073.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745030	0.89663	.	.	ENSG00000187446	ENST00000334660;ENST00000392151	T;T	0.68479	-0.33;-0.33	5.79	1.52	0.23074	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.87758	2.905	0.80722	D	1	D	0.56521	0.976	P	0.50659	0.647	T	0.81673	-0.0826	10	0.72032	D	0.01	-10.8135	14.3342	0.66578	0.6356:0.3644:0.0:0.0	.	10	Q99653	CHP1_HUMAN	W	10	ENSP00000335632:R10W;ENSP00000440490:R10W	ENSP00000335632:R10W	R	+	1	2	AC012652.1	39310900	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.024000	0.13555	0.334000	0.23590	-0.277000	0.10078	CGG		0.677	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		3	7	0	0	0	0.00024832	0	3	7				
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.A350V			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1048-1050)gCc>gTc		ubiquitin C							191.0	172.0	179.0					12																	125397269		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397269G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1049C>T	12.37:g.125397269G>A	ENSP00000441543:p.Ala350Val					UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.A274V	p.A350V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2625	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1049C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416852	0.62511	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74842	-0.88;-0.88;-0.88	3.17	3.17	0.36434	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.343088	0.19197	N	0.120281	T	0.82226	0.4991	M	0.74546	2.27	0.80722	D	1	P;P;P	0.46621	0.881;0.668;0.715	P;P;B	0.57244	0.816;0.63;0.365	D	0.84144	0.0419	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.0:1.0:0.0	.	439;350;350	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	350;350;274;350;274	ENSP00000441543:A350V;ENSP00000344818:A350V;ENSP00000438394:A274V	ENSP00000344818:A350V	A	-	2	0	UBC	123963222	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.436000	0.80404	1.615000	0.50252	0.556000	0.70494	GCC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		7	475	0	0	0	0.00198382	0	7	475				
CDC42BPB	9578	broad.mit.edu	37	14	103442220	103442220	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:103442220C>G	ENST00000361246.2	-	10	1675	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E463Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCCCTCACCTTGCAGCTTC	0.662																																						ENST00000361246.2																			2	Substitution - Missense(2)	p.E463Q(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.e10+1		CDC42 binding protein kinase beta (DMPK-like)							75.0	79.0	77.0					14																	103442220		2203	4300	6503	SO:0001630	splice_region_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442220C>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1387+1G>C	14.37:g.103442220C>G							p.E463_splice	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	10	1675	-		Melanoma(154;0.155)	463						Splice_Site	SNP	ENST00000361246.2	37	c.1387_splice	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	36	5.706568	0.96821	.	.	ENSG00000198752	ENST00000361246	T	0.66815	-0.23	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.81497	2.545	0.80722	D	1	B	0.32425	0.371	B	0.37387	0.248	T	0.71388	-0.4608	9	.	.	.	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	463	Q9Y5S2	MRCKB_HUMAN	Q	463	ENSP00000355237:E463Q	.	E	-	1	0	CDC42BPB	102511973	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.064000	0.71169	2.732000	0.93576	0.650000	0.86243	GAG		0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	Missense_Mutation	13	154	0	0	0	0.00400662	0	13	154				
ZNF516	9658	broad.mit.edu	37	18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:74091047T>A	ENST00000443185.2	-	4	3340	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1008					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1008L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCAGCTCCTGGGCTGCCTT	0.706																																						ENST00000443185.2																			1	Substitution - Missense(1)	p.Q1008L(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3022-3024)cAg>cTg		zinc finger protein 516							15.0	18.0	17.0					18																	74091047		1906	4065	5971	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091047T>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3023A>T	18.37:g.74091047T>A	ENSP00000394757:p.Gln1008Leu					ZNF516_ENST00000524431.2_5'UTR	p.Q1008L	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3340	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1008						Missense_Mutation	SNP	ENST00000443185.2	37	c.3023A>T		.	.	.	.	.	.	.	.	.	.	t	12.54	1.968598	0.34754	.	.	ENSG00000101493	ENST00000443185	T	0.10099	2.91	3.28	0.737	0.18314	.	1.399420	0.04395	N	0.363196	T	0.09069	0.0224	.	.	.	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.37776	-0.9691	9	0.72032	D	0.01	-12.8712	4.0051	0.09597	0.1816:0.1028:0.0:0.7156	.	1008	Q92618	ZN516_HUMAN	L	1008	ENSP00000394757:Q1008L	ENSP00000394757:Q1008L	Q	-	2	0	ZNF516	72220035	0.042000	0.20092	0.718000	0.30602	0.869000	0.49853	0.184000	0.16939	0.038000	0.15604	0.398000	0.26397	CAG		0.706	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		25	29	0	0	0	0.00465635	0	25	29				
MIPEP	4285	broad.mit.edu	37	13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:24455845C>A	ENST00000382172.3	-	3	543	c.445G>T	c.(445-447)Gta>Tta	p.V149L	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	149					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.V149L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TACTTCTCTACCATGGTGCCA	0.502																																						ENST00000382172.3																			1	Substitution - Missense(1)	p.V149L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(445-447)Gta>Tta		mitochondrial intermediate peptidase							100.0	69.0	79.0					13																	24455845		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24455845C>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.445G>T	13.37:g.24455845C>A	ENSP00000371607:p.Val149Leu					MIPEP_ENST00000469167.1_5'UTR	p.V149L	NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	3	543	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	149					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.445G>T	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826066	0.71143	.	.	ENSG00000027001	ENST00000382172	T	0.53857	0.6	4.66	4.66	0.58398	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.75085	2.285	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.75728	-0.3216	10	0.54805	T	0.06	.	17.9087	0.88927	0.0:1.0:0.0:0.0	.	149	Q99797	MIPEP_HUMAN	L	149	ENSP00000371607:V149L	ENSP00000371607:V149L	V	-	1	0	MIPEP	23353845	1.000000	0.71417	0.994000	0.49952	0.275000	0.26752	7.377000	0.79668	2.299000	0.77371	0.655000	0.94253	GTA		0.502	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			11	115	1	0	0.000978159	0.000978159	0.00267707	11	115				
OXSM	54995	broad.mit.edu	37	3	25833004	25833004	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:25833004T>C	ENST00000280701.3	+	2	592	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	165					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.L165L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAACTGCTTTGAATTTTCA	0.423																																						ENST00000280701.3																			1	Substitution - coding silent(1)	p.L165L(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(493-495)Ttg>Ctg		3-oxoacyl-ACP synthase, mitochondrial							96.0	100.0	99.0					3																	25833004		2203	4300	6503	SO:0001819	synonymous_variant	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25833004T>C	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.493T>C	3.37:g.25833004T>C						OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	p.L165L	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	592	+			165						Silent	SNP	ENST00000280701.3	37	c.493T>C	CCDS2643.1																																																																																				0.423	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		29	268	0	0	0	0.00178596	0	29	268				
TRIM9	114088	broad.mit.edu	37	14	51446111	51446111	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:51446111G>A	ENST00000298355.3	-	9	3185	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	TRIM9_ENST00000338969.5_Silent_p.N769N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	688	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N688N(2)|p.N769N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTACCTGCACGTTCCTGTTCA	0.512																																						ENST00000298355.3																			3	Substitution - coding silent(3)	p.N688N(2)|p.N769N(1)	prostate(3)	breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2062-2064)aaC>aaT		tripartite motif containing 9							100.0	99.0	100.0					14																	51446111		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446111G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.2064C>T	14.37:g.51446111G>A						TRIM9_ENST00000338969.5_Silent_p.N769N	p.N688N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			9	3185	-	all_epithelial(31;0.00418)|Breast(41;0.148)		688			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.2064C>T	CCDS9703.1																																																																																				0.512	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		65	203	0	0	0	0.00361006	0	65	203				
CASZ1	54897	broad.mit.edu	37	1	10713982	10713982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:10713982delC	ENST00000377022.3	-	11	2449	c.2132delG	c.(2131-2133)ggcfs	p.G711fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.G711fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	711					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCCTTGGCGCCCAGCAGCGA	0.662																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2131-2133)gcfs		castor zinc finger 1							48.0	49.0	49.0					1																	10713982		2203	4300	6503	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713982delC	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2132delG	1.37:g.10713982delC	ENSP00000366221:p.Gly711fs					RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.G711fs	p.G711fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2449	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	711					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.2132delG	CCDS41246.1																																																																																				0.662	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		9	124						9	124	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	513						7	513	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2098-2100)aaafs		GRIP and coiled-coil domain containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087883_109087884insA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2106dupA	2.37:g.109087891_109087891dupA	ENSP00000307939:p.Glu700fs						p.K700fs	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	2812_2813	+			700					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	ENST00000309863.6	37	c.2098_2099insA	CCDS33268.1																																																																																				0.307	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		7	564						7	564	---	---	---	---
CCNYL1	151195	broad.mit.edu	37	2	208618360	208618362	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:208618360_208618362delAGA	ENST00000295414.3	+	10	1229_1231	c.1018_1020delAGA	c.(1018-1020)agadel	p.R341del	CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del|CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|MIR4775_ENST00000581168.1_RNA|RP11-801F7.1_ENST00000609146.1_RNA			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	341					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGCCGCTATGAGAAGGTCTTTCA	0.404																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(1018-1020)del		cyclin Y-like 1																																				SO:0001651	inframe_deletion	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208618360_208618362delAGA	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.1018_1020delAGA	2.37:g.208618360_208618362delAGA	ENSP00000295414:p.Arg341del					CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del|CCNYL1_ENST00000468768.1_3'UTR	p.R341del			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	10	1229_1231	+			341					Q6NX60	In_Frame_Del	DEL	ENST00000295414.3	37	c.1018_1020delAGA																																																																																					0.404	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		72	356						72	356	---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68529609	68529610	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:68529609_68529610insT	ENST00000322244.5	-	11	1012_1013	c.953_954insA	c.(952-954)aacfs	p.N318fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	318					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACCTCAGGGTTGCTAAAATC	0.386																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(952-954)accfs		ubiquitin-like modifier activating enzyme 6																																				SO:0001589	frameshift_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68529609_68529610insT	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.954dupA	4.37:g.68529611_68529611dupT	ENSP00000313454:p.Asn318fs					UBA6_ENST00000420827.2_Frame_Shift_Ins_p.T318fs	p.T318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			11	1012_1013	-			318					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Ins	INS	ENST00000322244.5	37	c.953_954insA	CCDS3516.1																																																																																				0.386	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		8	279						8	279	---	---	---	---
SURF4	6836	broad.mit.edu	37	9	136231748	136231748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136231748delT	ENST00000371989.3	-	5	640	c.511delA	c.(511-513)accfs	p.T171fs	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	171					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAGGAGGGTCATGAACATC	0.562																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(511-513)ccfs		surfeit 4							100.0	80.0	87.0					9																	136231748		2203	4300	6503	SO:0001589	frameshift_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136231748delT		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.511delA	9.37:g.136231748delT	ENSP00000361057:p.Thr171fs					SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs	p.T171fs	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	5	640	-			171					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Frame_Shift_Del	DEL	ENST00000371989.3	37	c.511delA	CCDS6968.1																																																																																				0.562	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		12	69						12	69	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	3						3	3	---	---	---	---
LINC00871	100506412	broad.mit.edu	37	14	46721941	46721944	+	lincRNA	DEL	GTGT	GTGT	-	rs398024954|rs59705562|rs202047653|rs67210855		TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:46721941_46721944delGTGT	ENST00000556886.1	+	0	232					NR_102701.1				long intergenic non-protein coding RNA 871																		TCTGGAAtgcgtgtgtgtgtgtgt	0.387																																						ENST00000556886.1																			0																																																			0							g.chr14:46721941_46721944delGTGT	BG186771		14q21.2	2013-07-05			ENSG00000258700	ENSG00000258700		"""Long non-coding RNAs"""	47038	non-coding RNA	RNA, long non-coding							Standard	NR_102700		Approved	RP11-1A16.1	uc031qoi.1		OTTHUMG00000170871		14.37:g.46721949_46721952delGTGT								NR_102701.1						0	232	+									RNA	DEL	ENST00000556886.1	37																																																																																						0.387	LINC00871-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410777.2			2	4						2	4	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142717743	142717743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:142717743delT	ENST00000381779.4	-	2	1407	c.1182delA	c.(1180-1182)gtafs	p.V394fs	SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	394						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1180-1182)gtfs		SLIT and NTRK-like family, member 4							196.0	159.0	171.0					X																	142717743		2203	4300	6503	SO:0001589	frameshift_variant	139065					integral to membrane		g.chrX:142717743delT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1182delA	X.37:g.142717743delT	ENSP00000371198:p.Val394fs					SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	p.V394fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1407	-	Acute lymphoblastic leukemia(192;6.56e-05)		394					Q5JXG3|Q8TCM8|Q96DL3	Frame_Shift_Del	DEL	ENST00000381779.4	37	c.1182delA	CCDS14679.1																																																																																				0.393	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		110	164						110	164	---	---	---	---
