#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
NPY5R	4889	broad.mit.edu	37	4	164271443	164271443	+	Silent	SNP	C	C	T	rs371917653		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:164271443C>T	ENST00000515560.1	+	4	1540	c.18C>T	c.(16-18)gaC>gaT	p.D6D	NPY5R_ENST00000338566.3_Silent_p.D6D|NPY5R_ENST00000506953.1_Silent_p.D6D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	6					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGAGCTCGACGAGTATTATA	0.358																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(16-18)gaC>gaT		neuropeptide Y receptor Y5		C		0,4406		0,0,2203	58.0	60.0	59.0		18	2.3	0.1	4		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPY5R	NM_006174.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		6/446	164271443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271443C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.18C>T	4.37:g.164271443C>T						NPY5R_ENST00000506953.1_Silent_p.D6D|NPY5R_ENST00000338566.3_Silent_p.D6D	p.D6D			Q15761	NPY5R_HUMAN			4	1540	+	all_hematologic(180;0.166)	Prostate(90;0.109)	6					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.18C>T	CCDS3804.1																																																																																				0.358	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		23	36	0	0	0	1	0	23	36				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		6	14	0	0	0	1	0	6	14				
PRSS27	83886	broad.mit.edu	37	16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(736-738)gTg>gGg		protease, serine 27							27.0	24.0	25.0					16																	2762757		2178	4284	6462	SO:0001583	missense	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2762757A>C	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.737T>G	16.37:g.2762757A>C	ENSP00000306390:p.Val246Gly						p.V246G	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			6	791	-			246			Peptidase S1.			Missense_Mutation	SNP	ENST00000302641.3	37	c.737T>G	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030268	0.54790	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.85861	-2.04	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000182	D	0.94670	0.8281	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.96007	0.8998	10	0.87932	D	0	.	13.0312	0.58842	1.0:0.0:0.0:0.0	.	246;210	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	246;210	ENSP00000306390:V246G	ENSP00000306390:V246G	V	-	2	0	PRSS27	2702758	0.956000	0.32656	0.212000	0.23672	0.512000	0.34134	8.849000	0.92178	1.969000	0.57287	0.459000	0.35465	GTG		0.667	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		6	8	0	0	0	1	0	6	8				
PTEN	5728	broad.mit.edu	37	10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		A -> G (in HNSCC). {ECO:0000269|PubMed:11801303}.|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCATGTTGCAGCAATTCACTG	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(361-363)Gca>Aca		phosphatase and tensin homolog							138.0	127.0	131.0					10																	89692877		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692877G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.361G>A	10.37:g.89692877G>A	ENSP00000361021:p.Ala121Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A121T	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1718	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	121		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.361G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440465	0.96168	.	.	ENSG00000171862	ENST00000371953	D	0.85861	-2.04	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	H	0.95365	3.66	0.80722	D	1	D	0.67145	0.996	D	0.67725	0.953	D	0.96215	0.9156	9	.	.	.	-11.9241	18.7776	0.91918	0.0:0.0:1.0:0.0	.	121	P60484	PTEN_HUMAN	T	121	ENSP00000361021:A121T	.	A	+	1	0	PTEN	89682857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GCA		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		54	23	0	0	0	1	0	54	23				
FAM81B	153643	broad.mit.edu	37	5	94749822	94749822	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr5:94749822C>T	ENST00000283357.5	+	4	511	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	155						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGGAATCGCTCGCCAGGAAGT	0.463																																						ENST00000283357.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(463-465)ctC>ctT		family with sequence similarity 81, member B							95.0	96.0	96.0					5																	94749822		1981	4167	6148	SO:0001819	synonymous_variant	153643							g.chr5:94749822C>T		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.465C>T	5.37:g.94749822C>T							p.L155L	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	4	511	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	155						Silent	SNP	ENST00000283357.5	37	c.465C>T	CCDS43341.1																																																																																				0.463	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		39	46	0	0	0	1	0	39	46				
SEC11C	90701	broad.mit.edu	37	18	56823020	56823020	+	Missense_Mutation	SNP	G	G	A	rs115898236		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr18:56823020G>A	ENST00000587834.1	+	4	920	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	SEC11C_ENST00000588875.1_Missense_Mutation_p.V150M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	150					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAAGAAGGACGTGGTGGGAAG	0.363													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17207	0.0		0.0	False		,,,				2504	0.0					ENST00000587834.1																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9						c.(448-450)Gtg>Atg		SEC11 homolog C (S. cerevisiae)							90.0	97.0	95.0					18																	56823020		2203	4300	6503	SO:0001583	missense	90701				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	g.chr18:56823020G>A	AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"""SEC11-like 3 (S. cerevisiae)"""	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.448G>A	18.37:g.56823020G>A	ENSP00000468633:p.Val150Met					SEC11C_ENST00000588875.1_Missense_Mutation_p.V150M	p.V150M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN			4	920	+		Colorectal(73;0.175)	150					B2RAA3	Missense_Mutation	SNP	ENST00000587834.1	37	c.448G>A	CCDS11970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	18.28	3.588238	0.66105	.	.	ENSG00000166562	ENST00000299714;ENST00000509791	.	.	.	5.68	5.68	0.88126	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);	0.000000	0.64402	D	0.000009	T	0.65668	0.2713	M	0.84773	2.715	0.80722	D	1	P	0.46621	0.881	B	0.34536	0.185	T	0.74583	-0.3617	9	0.54805	T	0.06	-19.7812	19.4184	0.94710	0.0:0.0:1.0:0.0	.	150	Q9BY50	SC11C_HUMAN	M	150	.	ENSP00000299714:V150M	V	+	1	0	SEC11C	54974000	1.000000	0.71417	0.996000	0.52242	0.757000	0.42996	9.866000	0.99616	2.679000	0.91253	0.645000	0.84053	GTG		0.363	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280		29	48	0	0	0	1	0	29	48				
AHNAK	79026	broad.mit.edu	37	11	62287402	62287402	+	Silent	SNP	G	G	A	rs141073062		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:62287402G>A	ENST00000378024.4	-	5	14761	c.14487C>T	c.(14485-14487)gaC>gaT	p.D4829D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4829					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGTTTTGCGTCTGGACCTT	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14485-14487)gaC>gaT		AHNAK nucleoprotein		G	,	1,4403	2.1+/-5.4	0,1,2201	132.0	131.0	131.0		14487,	-5.4	0.6	11	dbSNP_134	131	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	,	4829/5891,	62287402	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287402G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14487C>T	11.37:g.62287402G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D4829D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14761	-		Melanoma(852;0.155)	4829					A1A586	Silent	SNP	ENST00000378024.4	37	c.14487C>T	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	186	0	0	0	1	0	4	186				
WAPAL	23063	broad.mit.edu	37	10	88231975	88231975	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:88231975G>A	ENST00000298767.5	-	7	2492	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	674	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTAAGGCAACGTGTGTTTAGA	0.333																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(2020-2022)Cgt>Tgt		wings apart-like homolog (Drosophila)							109.0	102.0	104.0					10																	88231975		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88231975G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2020C>T	10.37:g.88231975G>A	ENSP00000298767:p.Arg674Cys						p.R674C	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			7	2492	-			674			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.2020C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203739	0.79127	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.57436	0.4	6.03	6.03	0.97812	Armadillo-type fold (1);	0.064020	0.64402	N	0.000006	T	0.73305	0.3570	M	0.85041	2.73	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.55871	0.786;0.786;0.781	T	0.76769	-0.2837	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	668;674;711	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	C	759;674;759	ENSP00000298767:R674C	ENSP00000298767:R674C	R	-	1	0	WAPAL	88221955	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.442000	0.66575	2.854000	0.98071	0.655000	0.94253	CGT		0.333	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		16	6	0	0	0	1	0	16	6				
FER1L6	654463	broad.mit.edu	37	8	125107242	125107242	+	Missense_Mutation	SNP	G	G	A	rs533143433		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:125107242G>A	ENST00000522917.1	+	35	4864	c.4658G>A	c.(4657-4659)cGg>cAg	p.R1553Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1553Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1553						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATAGAAACTCGGCCACTGTAC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18547	0.001		0.0	False		,,,				2504	0.0					ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4657-4659)cGg>cAg		fer-1-like 6 (C. elegans)							87.0	81.0	83.0					8																	125107242		1926	4143	6069	SO:0001583	missense	654463					integral to membrane		g.chr8:125107242G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4658G>A	8.37:g.125107242G>A	ENSP00000428280:p.Arg1553Gln					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1553Q	p.R1553Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		35	4864	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1553						Missense_Mutation	SNP	ENST00000522917.1	37	c.4658G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601886	0.96614	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86627	-2.15;-2.15	5.52	5.52	0.82312	.	0.000000	0.85682	U	0.000000	D	0.95137	0.8424	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.95369	0.8462	10	0.59425	D	0.04	-24.2273	19.8	0.96502	0.0:0.0:1.0:0.0	.	1553	Q2WGJ9	FR1L6_HUMAN	Q	1553	ENSP00000428280:R1553Q;ENSP00000381982:R1553Q	ENSP00000381982:R1553Q	R	+	2	0	FER1L6	125176423	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	9.740000	0.98839	2.754000	0.94517	0.551000	0.68910	CGG		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		14	39	0	0	0	1	0	14	39				
ZBTB21	49854	broad.mit.edu	37	21	43413378	43413378	+	Missense_Mutation	SNP	C	C	T	rs368914741		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:43413378C>T	ENST00000310826.5	-	3	1010	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	ZBTB21_ENST00000398505.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R276Q|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R276Q	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	276					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										AACAGGTGGCCGTGGTCTCTT	0.428																																						ENST00000310826.5																			0											c.(826-828)cGg>cAg		zinc finger and BTB domain containing 21		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	55.0	54.0	54.0		827,827,827	4.7	1.0	21		54	0,8600		0,0,4300	no	missense,missense,missense	ZNF295	NM_001098402.1,NM_001098403.1,NM_020727.4	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	276/1067,276/866,276/1067	43413378	2,13004	2203	4300	6503	SO:0001583	missense	49854							g.chr21:43413378C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.827G>A	21.37:g.43413378C>T	ENSP00000308759:p.Arg276Gln					ZBTB21_ENST00000398505.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000465968.1_Intron	p.R276Q	NM_001098402.1	NP_001091872.1					3	1010	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.827G>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410353	0.42715	4.54E-4	0.0	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.06768	3.47;3.26;3.26;3.26	5.8	4.73	0.59995	.	0.388038	0.26863	N	0.022116	T	0.09992	0.0245	M	0.63428	1.95	0.36191	D	0.85005	B;B	0.24823	0.112;0.018	B;B	0.12156	0.007;0.002	T	0.05007	-1.0912	10	0.36615	T	0.2	-14.5334	10.5455	0.45058	0.1351:0.7881:0.0:0.0768	.	276;276	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	Q	276	ENSP00000381517:R276Q;ENSP00000308759:R276Q;ENSP00000381512:R276Q;ENSP00000381523:R276Q	ENSP00000308759:R276Q	R	-	2	0	ZNF295	42286447	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	2.850000	0.48294	2.748000	0.94277	0.655000	0.94253	CGG		0.428	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		23	46	0	0	0	1	0	23	46				
RAPH1	65059	broad.mit.edu	37	2	204305768	204305768	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:204305768A>G	ENST00000319170.5	-	14	2444	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P767P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	715					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ggggtggaggagggggagggg	0.622																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2143-2145)ccT>ccC		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							15.0	20.0	18.0					2																	204305768		2144	4244	6388	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305768A>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2145T>C	2.37:g.204305768A>G						RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P767P	p.P715P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2444	-			715					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2145T>C	CCDS2359.1																																																																																				0.622	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		5	42	0	0	0	1	0	5	42				
ZAN	7455	broad.mit.edu	37	7	100377162	100377162	+	RNA	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:100377162C>T	ENST00000348028.3	+	0	6576				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCAGGGCGCGGGAAAAGTG	0.642																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							28.0	32.0	31.0					7																	100377162		1983	4140	6123			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377162C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377162C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6557	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	12.97	2.096000	0.36952	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.77229	-1.08;-1.08;-1.08;1.87	4.17	1.31	0.21738	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.630111	0.13206	N	0.405556	T	0.63498	0.2516	.	.	.	0.09310	N	1	B;B;B	0.15930	0.012;0.012;0.015	B;B;B	0.11329	0.003;0.003;0.006	T	0.52961	-0.8505	9	0.48119	T	0.1	.	5.1036	0.14772	0.3654:0.5355:0.0:0.099	.	648;2137;2138	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	W	2137;2137;2137;648	ENSP00000445943:R2137W;ENSP00000445091:R2137W;ENSP00000444427:R2137W;ENSP00000441117:R648W	ENSP00000445091:R2137W	R	+	1	2	ZAN	100215098	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.189000	0.17037	0.290000	0.22444	-0.252000	0.11476	CGG		0.642	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	28	0	0	0	1	0	10	28				
NPAS3	64067	broad.mit.edu	37	14	34263138	34263138	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr14:34263138C>T	ENST00000356141.4	+	10	1189	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	NPAS3_ENST00000357798.5_Missense_Mutation_p.R384C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367C|NPAS3_ENST00000346562.2_Missense_Mutation_p.R365C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402C			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	397	PAC.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAAGTACTATCGCTGGATGCA	0.373																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1093-1095)Cgc>Tgc		neuronal PAS domain protein 3							134.0	123.0	127.0					14																	34263138		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34263138C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1189C>T	14.37:g.34263138C>T	ENSP00000348460:p.Arg397Cys					NPAS3_ENST00000357798.5_Missense_Mutation_p.R384C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402C|NPAS3_ENST00000356141.4_Missense_Mutation_p.R397C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367C	p.R365C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	9	1167	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		397			PAC.|PAS 2.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1093C>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863755	0.71949	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.79	5.79	0.91817	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.90252	3.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.72239	-0.4351	10	0.87932	D	0	.	20.0367	0.97561	0.0:1.0:0.0:0.0	.	367;397;365;384	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	C	374;402;365;367;397;384	ENSP00000448373:R374C;ENSP00000450392:R402C;ENSP00000319610:R365C;ENSP00000448916:R367C;ENSP00000348460:R397C;ENSP00000350446:R384C	ENSP00000319610:R365C	R	+	1	0	NPAS3	33332889	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	4.805000	0.62561	2.741000	0.93983	0.557000	0.71058	CGC		0.373	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			23	38	0	0	0	1	0	23	38				
ADAMTSL1	92949	broad.mit.edu	37	9	18906845	18906845	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:18906845A>T	ENST00000380548.4	+	28	5456	c.5117A>T	c.(5116-5118)cAc>cTc	p.H1706L	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.H407L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1706	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGCCTGAGCACCTGTGCTCC	0.597																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(5116-5118)cAc>cTc		ADAMTS-like 1							70.0	81.0	78.0					9																	18906845		2067	4187	6254	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18906845A>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.5117A>T	9.37:g.18906845A>T	ENSP00000369921:p.His1706Leu					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.H407L	p.H1706L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	28	5456	+			1706			TSP type-1 9.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.5117A>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.758088	0.89843	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.59638	0.25;0.25	5.28	5.28	0.74379	.	0.164345	0.40385	N	0.001109	T	0.66674	0.2813	L	0.40543	1.245	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.74674	0.984;0.961;0.914	T	0.63319	-0.6664	10	0.27082	T	0.32	.	15.2116	0.73227	1.0:0.0:0.0:0.0	.	1207;407;1706	A2A344;Q8N6G6-6;Q8N6G6	.;.;ATL1_HUMAN	L	1706;407;410	ENSP00000369921:H1706L;ENSP00000369918:H407L	ENSP00000325584:H410L	H	+	2	0	ADAMTSL1	18896845	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.105000	0.57797	2.004000	0.58718	0.374000	0.22700	CAC		0.597	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			4	69	0	0	0	1	0	4	69				
NACA	4666	broad.mit.edu	37	12	57111732	57111732	+	Silent	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:57111732G>T	ENST00000454682.1	-	3	3863	c.3582C>A	c.(3580-3582)gcC>gcA	p.A1194A	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1194	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGTTGTGGGGGCCCCTTTGG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3580-3582)gcC>gcA		nascent polypeptide-associated complex alpha subunit							68.0	78.0	75.0					12																	57111732		1117	2686	3803	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111732G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3582C>A	12.37:g.57111732G>T						NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron	p.A1194A	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3863	-			0						Silent	SNP	ENST00000454682.1	37	c.3582C>A																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	268	1	0	1	1	1	5	268				
ADCK2	90956	broad.mit.edu	37	7	140373257	140373257	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:140373257C>G	ENST00000072869.4	+	1	305	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V	ADCK2_ENST00000476491.1_Missense_Mutation_p.L43V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	43						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGCTGGCTTCTGCTGGGCAC	0.682																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(127-129)Ctg>Gtg		aarF domain containing kinase 2							12.0	13.0	13.0					7																	140373257		2196	4283	6479	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373257C>G	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.127C>G	7.37:g.140373257C>G	ENSP00000072869:p.Leu43Val					ADCK2_ENST00000476491.1_Missense_Mutation_p.L43V	p.L43V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	305	+	Melanoma(164;0.00956)		43					Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.127C>G	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587443	0.46110	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.48522	0.81;0.81	4.54	2.72	0.32119	.	0.000000	0.34959	N	0.003552	T	0.54159	0.1841	L	0.43923	1.385	0.28351	N	0.920919	D;D	0.71674	0.998;0.989	D;P	0.63877	0.919;0.825	T	0.49925	-0.8887	10	0.66056	D	0.02	-46.0466	9.2845	0.37749	0.0:0.8209:0.0:0.1791	.	43;43	C9JE15;Q7Z695	.;ADCK2_HUMAN	V	43	ENSP00000072869:L43V;ENSP00000420512:L43V	ENSP00000072869:L43V	L	+	1	2	ADCK2	140019726	0.957000	0.32711	0.998000	0.56505	0.095000	0.18619	0.025000	0.13577	0.372000	0.24591	-0.339000	0.08088	CTG		0.682	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		19	34	0	0	0	1	0	19	34				
FANCD2OS	115795	broad.mit.edu	37	3	10146353	10146353	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:10146353A>G	ENST00000450660.2	-	2	322	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S36P	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	36																	AAGCAGGGGGAGGCCTTGAAT	0.562																																						ENST00000450660.2																			0											c.(106-108)Tcc>Ccc		FANCD2 opposite strand							209.0	213.0	212.0					3																	10146353		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146353A>G	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.106T>C	3.37:g.10146353A>G	ENSP00000429608:p.Ser36Pro					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S36P	p.S36P	NM_001164839.1	NP_001158311.1					2	322	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.106T>C	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823793	0.50739	.	.	ENSG00000163705	ENST00000524279;ENST00000453223;ENST00000450660	.	.	.	5.62	4.48	0.54585	.	0.440490	0.22242	N	0.062677	T	0.12135	0.0295	N	0.14661	0.345	0.27654	N	0.947309	P	0.46706	0.883	B	0.32724	0.151	T	0.08371	-1.0725	9	0.29301	T	0.29	.	5.3432	0.15994	0.7322:0.1796:0.0882:0.0	.	36	Q96PS1	CC024_HUMAN	P	36;34;36	.	ENSP00000429608:S36P	S	-	1	0	C3orf24	10121353	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.791000	0.38744	2.160000	0.67779	0.456000	0.33151	TCC		0.562	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		4	169	0	0	0	1	0	4	169				
TELO2	9894	broad.mit.edu	37	16	1552359	1552359	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:1552359G>A	ENST00000262319.6	+	13	1886	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	536					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCCTGCGGGCCCTTGAG	0.667																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1606-1608)cGg>cAg		telomere maintenance 2							7.0	9.0	8.0					16																	1552359		2106	4158	6264	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1552359G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1607G>A	16.37:g.1552359G>A	ENSP00000262319:p.Arg536Gln					TELO2_ENST00000564507.1_3'UTR	p.R536Q	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			13	1886	+		Hepatocellular(780;0.219)	536					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1607G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133041	0.21041	.	.	ENSG00000100726	ENST00000262319	T	0.32753	1.44	5.3	1.59	0.23543	Telomere length regulation protein, conserved domain (1);	0.829461	0.11131	N	0.596382	T	0.11324	0.0276	N	0.04132	-0.27	0.20563	N	0.999884	B	0.20988	0.05	B	0.12837	0.008	T	0.35076	-0.9803	10	0.11485	T	0.65	-17.5002	4.8766	0.13658	0.3577:0.2598:0.3825:0.0	.	536	Q9Y4R8	TELO2_HUMAN	Q	536	ENSP00000262319:R536Q	ENSP00000262319:R536Q	R	+	2	0	TELO2	1492360	0.122000	0.22280	0.983000	0.44433	0.601000	0.36947	-0.225000	0.09151	0.528000	0.28580	0.462000	0.41574	CGG		0.667	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		14	12	0	0	0	1	0	14	12				
GRM8	2918	broad.mit.edu	37	7	126173579	126173579	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000358373.3_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R619R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)																												ENST00000339582.2																			1	Substitution - coding silent(1)	p.R619R(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1855-1857)cgC>cgT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						114.0	110.0	112.0					7																	126173579		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173579G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1857C>T	7.37:g.126173579G>A		HNSCC(24;0.065)				GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.R619R	p.R619R			O00222	GRM8_HUMAN			9	2665	-		Prostate(267;0.186)	619					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1857C>T	CCDS5794.1																																																																																				0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			33	74	0	0	0	1	0	33	74				
ZNF331	55422	broad.mit.edu	37	19	54081063	54081063	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:54081063G>A	ENST00000253144.9	+	7	2582	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	ZNF331_ENST00000512387.1_Missense_Mutation_p.G417R|ZNF331_ENST00000449416.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G417R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G417R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G417R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TACAGAATGTGGGAAGAGCTT	0.473			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1249-1251)Ggg>Agg		zinc finger protein 331							67.0	59.0	62.0					19																	54081063		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081063G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1249G>A	19.37:g.54081063G>A	ENSP00000253144:p.Gly417Arg					ZNF331_ENST00000449416.1_Missense_Mutation_p.G417R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G417R|ZNF331_ENST00000512387.1_Missense_Mutation_p.G417R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G417R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G417R	p.G417R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2582	+			417					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1249G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501712	0.64298	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	3.77	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240363	0.21636	N	0.071420	T	0.42854	0.1221	M	0.78285	2.405	0.35653	D	0.811952	D	0.65815	0.995	P	0.61003	0.882	T	0.58901	-0.7554	10	0.56958	D	0.05	.	13.4675	0.61263	0.0:0.0:1.0:0.0	.	417	Q9NQX6	ZN331_HUMAN	R	417	ENSP00000253144:G417R;ENSP00000427439:G417R;ENSP00000393817:G417R;ENSP00000393336:G417R;ENSP00000421014:G417R;ENSP00000423156:G417R;ENSP00000421728:G417R	ENSP00000253144:G417R	G	+	1	0	ZNF331	58772875	1.000000	0.71417	0.978000	0.43139	0.463000	0.32649	6.112000	0.71547	2.100000	0.63781	0.655000	0.94253	GGG		0.473	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		17	50	0	0	0	1	0	17	50				
DEFA4	1669	broad.mit.edu	37	8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A	rs559546450		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:6793553G>A	ENST00000297435.2	-	3	407	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	95					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507																																						ENST00000297435.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(283-285)Cgt>Tgt		defensin, alpha 4, corticostatin							152.0	134.0	140.0					8																	6793553		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6793553G>A	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.283C>T	8.37:g.6793553G>A	ENSP00000297435:p.Arg95Cys						p.R95C	NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	3	407	-			95					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.283C>T	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	5.411	0.260971	0.10239	.	.	ENSG00000164821	ENST00000297435	T	0.26067	1.76	0.195	0.195	0.15151	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.26326	-1.0106	7	0.87932	D	0	.	.	.	.	.	95	P12838	DEF4_HUMAN	C	95	ENSP00000297435:R95C	ENSP00000297435:R95C	R	-	1	0	DEFA4	6780963	0.064000	0.20934	0.007000	0.13788	0.006000	0.05464	0.000000	0.12993	0.300000	0.22699	0.306000	0.20318	CGT		0.507	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		66	51	0	0	0	1	0	66	51				
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2551-2553)ccG>ccC		tubby like protein 4							5.0	6.0	6.0					6																	158923248		2080	4109	6189	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923248G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2553G>C	6.37:g.158923248G>C						TULP4_ENST00000367094.2_Intron	p.P851P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3910	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	851					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2553G>C	CCDS34561.1																																																																																				0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		6	17	0	0	0	1	0	6	17				
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G	rs534390661	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								-|||	23	0.00459265	0.0061	0.0014	5008	,	,		6788	0.006		0.007	False		,,,				2504	0.001					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3004-3006)acT>acC		nascent polypeptide-associated complex alpha subunit							33.0	40.0	38.0					12																	57112308		1518	3502	5020	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112308A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3006T>C	12.37:g.57112308A>G						NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron	p.T1002T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3287	-			0						Silent	SNP	ENST00000454682.1	37	c.3006T>C																																																																																					0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		9	140	0	0	0	1	0	9	140				
AMZ1	155185	broad.mit.edu	37	7	2740188	2740188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:2740188G>A	ENST00000312371.4	+	2	471	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	AMZ1_ENST00000407112.1_Missense_Mutation_p.A35T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	35							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTATGTGTCCGCCTTCTCCCC	0.657																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(103-105)Gcc>Acc		archaelysin family metallopeptidase 1							112.0	120.0	118.0					7																	2740188		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740188G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.103G>A	7.37:g.2740188G>A	ENSP00000308149:p.Ala35Thr					AMZ1_ENST00000407112.1_Missense_Mutation_p.A35T	p.A35T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	471	+		Ovarian(82;0.0779)	35					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.103G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	8.023	0.760127	0.15846	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.32988	1.85;1.43	4.34	-0.797	0.10909	.	0.333921	0.25717	N	0.028767	T	0.22399	0.0540	M	0.68317	2.08	0.22754	N	0.998774	P;B	0.35527	0.507;0.173	B;B	0.25614	0.062;0.013	T	0.16808	-1.0390	10	0.25106	T	0.35	-7.0034	8.4433	0.32828	0.4048:0.0:0.5952:0.0	.	35;35	B3KRS0;Q400G9	.;AMZ1_HUMAN	T	35	ENSP00000308149:A35T;ENSP00000386020:A35T	ENSP00000308149:A35T	A	+	1	0	AMZ1	2706714	0.000000	0.05858	0.013000	0.15412	0.079000	0.17450	-0.270000	0.08584	-0.590000	0.05866	-1.101000	0.02118	GCC		0.657	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		5	383	0	0	0	1	0	5	383				
LTBP1	4052	broad.mit.edu	37	2	33525560	33525560	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:33525560A>G	ENST00000404816.2	+	21	3631	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	LTBP1_ENST00000272273.5_Missense_Mutation_p.Q33R|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q767R|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1094R|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q768R|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q767R|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q714R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1093	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTAAACGGGCAGTGCAAAAAT	0.473																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3277-3279)cAg>cGg		latent transforming growth factor beta binding protein 1							107.0	108.0	107.0					2																	33525560		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33525560A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3278A>G	2.37:g.33525560A>G	ENSP00000386043:p.Gln1093Arg					LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q768R|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q767R|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1094R|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q767R|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000272273.5_Missense_Mutation_p.Q33R	p.Q1093R			Q14766	LTBP1_HUMAN			21	3631	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1093			EGF-like 9; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3278A>G	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.822|7.822	0.717994|0.717994	0.15372|0.15372	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273|ENST00000415140	D;D;D;D;D;D;D;D|.	0.91945|.	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.24|.	5.39|5.39	5.39|5.39	0.77823|0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	.|.	.|.	.|.	.|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.02973|0.02973	-0.45|-0.45	0.30989|0.30989	N|N	0.721596|0.721596	B;B;B;B;B;B;B|.	0.12013|.	0.0;0.005;0.003;0.001;0.002;0.002;0.004|.	B;B;B;B;B;B;B|.	0.16289|.	0.001;0.015;0.015;0.005;0.006;0.009;0.009|.	T|T	0.18903|0.18903	-1.0322|-1.0322	9|5	0.17832|.	T|.	0.49|.	.|.	9.773|9.773	0.40601|0.40601	0.8461:0.0:0.0:0.1539|0.8461:0.0:0.0:0.1539	.|.	33;1093;767;714;767;768;1094|.	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;LTBP1_HUMAN;.;.;.;.;.|.	R|G	1093;1094;768;767;714;714;767;33|55	ENSP00000386043:Q1093R;ENSP00000346467:Q1094R;ENSP00000374653:Q768R;ENSP00000393057:Q767R;ENSP00000384373:Q714R;ENSP00000385359:Q714R;ENSP00000384091:Q767R;ENSP00000272273:Q33R|.	ENSP00000272273:Q33R|.	Q|S	+|+	2|1	0|0	LTBP1|LTBP1	33379064|33379064	0.997000|0.997000	0.39634|0.39634	0.968000|0.968000	0.41197|0.41197	0.351000|0.351000	0.29236|0.29236	2.276000|2.276000	0.43408|0.43408	2.049000|2.049000	0.60858|0.60858	0.454000|0.454000	0.30748|0.30748	CAG|AGT		0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		55	62	0	0	0	1	0	55	62				
LAMA5	3911	broad.mit.edu	37	20	60885876	60885876	+	Missense_Mutation	SNP	G	G	T	rs569986968		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr20:60885876G>T	ENST00000252999.3	-	75	10357	c.10291C>A	c.(10291-10293)Cgc>Agc	p.R3431S	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3431	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTCTCCCAGCGCACGGAGACC	0.721																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10291-10293)Cgc>Agc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						7.0	10.0	9.0					20																	60885876		2126	4225	6351	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60885876G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10291C>A	20.37:g.60885876G>T	ENSP00000252999:p.Arg3431Ser						p.R3431S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		75	10357	-	Breast(26;1.57e-08)		3431			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10291C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	4.539	0.100081	0.08731	.	.	ENSG00000130702	ENST00000252999	T	0.77098	-1.07	4.97	0.11	0.14611	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.594703	0.18968	N	0.126207	T	0.56543	0.1992	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.25606	-1.0127	10	0.23891	T	0.37	.	1.0177	0.01511	0.189:0.1288:0.3115:0.3708	.	3431	O15230	LAMA5_HUMAN	S	3431	ENSP00000252999:R3431S	ENSP00000252999:R3431S	R	-	1	0	LAMA5	60319271	0.000000	0.05858	0.092000	0.20876	0.014000	0.08584	0.014000	0.13333	0.468000	0.27243	-0.299000	0.09455	CGC		0.721	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	19	1	0	0.115264	1	0.11746	3	19				
CD200R1L	344807	broad.mit.edu	37	3	112546321	112546321	+	Missense_Mutation	SNP	G	G	A	rs369844409		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:112546321G>A	ENST00000398214.1	-	3	548	c.323C>T	c.(322-324)tCg>tTg	p.S108L	CD200R1L_ENST00000488794.1_Missense_Mutation_p.S87L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.S87L	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	108	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGAAGGTCCGAATTCTGATC	0.463																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(259-261)tCg>tTg		CD200 receptor 1-like		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	159.0	153.0	155.0		323,260	-2.9	0.0	3		155	0,8600		0,0,4300	no	missense,missense	CD200R1L	NM_001008784.2,NM_001199215.1	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	108/272,87/251	112546321	1,13005	2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546321G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.323C>T	3.37:g.112546321G>A	ENSP00000381272:p.Ser108Leu					CD200R1L_ENST00000448932.1_Missense_Mutation_p.S87L|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S108L	p.S87L			Q6Q8B3	MO2R2_HUMAN			5	849	-			108			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.260C>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	G	4.221	0.039779	0.08148	2.27E-4	0.0	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.28069	1.63;1.63;1.63	3.99	-2.94	0.05581	Immunoglobulin-like fold (1);	0.832713	0.10990	N	0.611692	T	0.12263	0.0298	N	0.22421	0.69	0.09310	N	1	P	0.35226	0.491	B	0.25405	0.06	T	0.27806	-1.0063	10	0.15952	T	0.53	.	4.5148	0.11930	0.5625:0.0:0.2692:0.1683	.	108	Q6Q8B3	MO2R2_HUMAN	L	108;87;87	ENSP00000381272:S108L;ENSP00000418413:S87L;ENSP00000415132:S87L	ENSP00000381272:S108L	S	-	2	0	CD200R1L	114029011	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.039000	0.13884	-0.404000	0.07610	-0.136000	0.14681	TCG		0.463	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		47	65	0	0	0	1	0	47	65				
C8B	732	broad.mit.edu	37	1	57411659	57411659	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:57411659G>A	ENST00000371237.4	-	7	1006	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	C8B_ENST00000535057.1_Missense_Mutation_p.H252Y|C8B_ENST00000543257.1_Missense_Mutation_p.H262Y	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	314	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTCGTAATGGAGCATGAGG	0.468																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(784-786)Cat>Tat		complement component 8, beta polypeptide							95.0	90.0	92.0					1																	57411659		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57411659G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.940C>T	1.37:g.57411659G>A	ENSP00000360281:p.His314Tyr					C8B_ENST00000535057.1_Missense_Mutation_p.H252Y|C8B_ENST00000371237.4_Missense_Mutation_p.H314Y	p.H262Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			8	1350	-			314			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.784C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183639	0.78677	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.84516	-1.86;-1.86;-1.86	4.83	2.87	0.33458	Membrane attack complex component/perforin (MACPF) domain (3);	0.047565	0.85682	D	0.000000	D	0.91476	0.7309	M	0.83483	2.645	0.58432	D	0.999999	D;D;D	0.89917	0.993;0.993;1.0	P;P;D	0.79784	0.835;0.835;0.993	D	0.91735	0.5399	10	0.62326	D	0.03	-21.0276	12.3856	0.55330	0.0:0.1265:0.7432:0.1302	.	262;252;314	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Y	314;262;252	ENSP00000360281:H314Y;ENSP00000442548:H262Y;ENSP00000440113:H252Y	ENSP00000360281:H314Y	H	-	1	0	C8B	57184247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.133000	0.64764	2.504000	0.84457	0.655000	0.94253	CAT		0.468	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			32	38	0	0	0	1	0	32	38				
SIPA1L3	23094	broad.mit.edu	37	19	38572687	38572687	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:38572687G>A	ENST00000222345.6	+	3	991	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	161					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCCGGCAGGGCCTTCCTC	0.711																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(481-483)aGg>aAg		signal-induced proliferation-associated 1 like 3							55.0	67.0	63.0					19																	38572687		2203	4299	6502	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572687G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.482G>A	19.37:g.38572687G>A	ENSP00000222345:p.Arg161Lys						p.R161K	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	991	+			161					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.482G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491773	0.44249	.	.	ENSG00000105738	ENST00000222345	T	0.74947	-0.89	5.22	5.22	0.72569	.	0.128140	0.37219	N	0.002189	T	0.56292	0.1975	N	0.12746	0.255	0.32947	D	0.519221	B	0.31640	0.333	B	0.30495	0.116	T	0.58869	-0.7560	10	0.08381	T	0.77	-33.9507	17.5458	0.87861	0.0:0.0:1.0:0.0	.	161	O60292	SI1L3_HUMAN	K	161	ENSP00000222345:R161K	ENSP00000222345:R161K	R	+	2	0	SIPA1L3	43264527	0.447000	0.25673	0.998000	0.56505	0.873000	0.50193	2.088000	0.41663	2.434000	0.82447	0.563000	0.77884	AGG		0.711	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		71	153	0	0	0	1	0	71	153				
PI4KA	5297	broad.mit.edu	37	22	21083938	21083938	+	Silent	SNP	C	C	T	rs531119654	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr22:21083938C>T	ENST00000572273.1	-	38	4526	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PI4KA_ENST00000255882.6_Silent_p.T1490T|PI4KA_ENST00000414196.3_Silent_p.T242T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1432					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGCAGCAGCGTCCTGCGCT	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18490	0.0		0.0	False		,,,				2504	0.001				GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4468-4470)acG>acA		phosphatidylinositol 4-kinase, catalytic, alpha							38.0	37.0	37.0					22																	21083938		2202	4299	6501	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21083938C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4296G>A	22.37:g.21083938C>T						PI4KA_ENST00000414196.3_Silent_p.T242T|PI4KA_ENST00000572273.1_Silent_p.T1432T	p.T1490T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		38	4556	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1432					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.4470G>A																																																																																					0.597	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		4	4	0	0	0	1	0	4	4				
CD22	933	broad.mit.edu	37	19	35831915	35831915	+	Missense_Mutation	SNP	G	G	A	rs370742313		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:35831915G>A	ENST00000085219.5	+	7	1447	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	CD22_ENST00000594250.1_Missense_Mutation_p.A284T|CD22_ENST00000419549.2_Missense_Mutation_p.A289T|CD22_ENST00000536635.2_Missense_Mutation_p.A373T|CD22_ENST00000341773.6_Missense_Mutation_p.A284T|CD22_ENST00000544992.2_Missense_Mutation_p.A461T|CD22_ENST00000270311.6_Missense_Mutation_p.A341T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	461	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCCCATGGCGCCTGGGAGGA	0.542																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1381-1383)Gcc>Acc		CD22 molecule	OspA lipoprotein(DB00045)	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	83.0	76.0	78.0		1117,1381,850,1381	-10.5	0.0	19		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	373/760,461/752,284/671,461/848	35831915	1,13005	2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35831915G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1381G>A	19.37:g.35831915G>A	ENSP00000085219:p.Ala461Thr					CD22_ENST00000594250.1_Missense_Mutation_p.A284T|CD22_ENST00000544992.2_Missense_Mutation_p.A461T|CD22_ENST00000536635.2_Missense_Mutation_p.A373T|CD22_ENST00000341773.6_Missense_Mutation_p.A284T|CD22_ENST00000270311.6_Missense_Mutation_p.A341T|CD22_ENST00000419549.2_Missense_Mutation_p.A289T	p.A461T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1447	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		461			Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1381G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	7.152	0.583882	0.13749	0.0	1.16E-4	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.27	-10.5	0.00291	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.347650	0.04687	N	0.413425	T	0.56202	0.1969	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.15719	0.0;0.001;0.014;0.001;0.002	B;B;B;B;B	0.11329	0.001;0.001;0.006;0.001;0.001	T	0.53279	-0.8461	10	0.13108	T	0.6	.	1.3036	0.02084	0.3105:0.2528:0.2956:0.1412	.	289;461;373;461;284	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	T	461;373;284;461;341;289	ENSP00000085219:A461T;ENSP00000442279:A373T;ENSP00000339349:A284T;ENSP00000441237:A461T;ENSP00000270311:A341T;ENSP00000403822:A289T	ENSP00000085219:A461T	A	+	1	0	CD22	40523755	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.710000	0.01888	-2.519000	0.00498	-4.043000	0.00012	GCC		0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		33	96	0	0	0	1	0	33	96				
MUC4	4585	broad.mit.edu	37	3	195488980	195488980	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:195488980C>T	ENST00000346145.4	-	13	1821	c.1782G>A	c.(1780-1782)caG>caA	p.Q594Q	MUC4_ENST00000349607.4_Silent_p.Q543Q|MUC4_ENST00000463781.3_Silent_p.Q4830Q|MUC4_ENST00000475231.1_Silent_p.Q4778Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1587					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)			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)		CCGTGCGGTTCTGGTACTCGG	0.736																																						ENST00000463781.3																			0				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.(14488-14490)caG>caA		mucin 4, cell surface associated							19.0	19.0	19.0					3																	195488980		2199	4294	6493	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195488980C>T	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	ENST00000346145.4:c.1782G>A	3.37:g.195488980C>T						MUC4_ENST00000349607.4_Silent_p.Q543Q|MUC4_ENST00000475231.1_Silent_p.Q4778Q|MUC4_ENST00000346145.4_Silent_p.Q594Q	p.Q4830Q	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)	14	14949	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1587					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.14490G>A	CCDS3310.1																																																																																				0.736	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		10	25	0	0	0	1	0	10	25				
LRRK1	79705	broad.mit.edu	37	15	101569184	101569184	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr15:101569184G>A	ENST00000388948.3	+	20	3069	c.2710G>A	c.(2710-2712)Ggc>Agc	p.G904S	LRRK1_ENST00000284395.5_Missense_Mutation_p.G901S	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATAGAAACCGGCACCCTGCT	0.552																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2701-2703)Ggc>Agc		leucine-rich repeat kinase 1							93.0	101.0	98.0					15																	101569184		1953	4148	6101	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101569184G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2710G>A	15.37:g.101569184G>A	ENSP00000373600:p.Gly904Ser					LRRK1_ENST00000388948.3_Missense_Mutation_p.G904S	p.G901S			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		21	3101	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		904						Missense_Mutation	SNP	ENST00000388948.3	37	c.2701G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109935	0.77210	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	D;D	0.92099	-2.87;-2.97	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96675	0.9499	10	0.72032	D	0.01	.	18.5571	0.91089	0.0:0.0:1.0:0.0	.	904	Q38SD2	LRRK1_HUMAN	S	904;901	ENSP00000373600:G904S;ENSP00000284395:G901S	ENSP00000284395:G901S	G	+	1	0	LRRK1	99386707	1.000000	0.71417	0.713000	0.30519	0.149000	0.21700	9.261000	0.95576	2.391000	0.81399	0.655000	0.94253	GGC		0.552	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	245	0	0	0	1	0	4	245				
APEH	327	broad.mit.edu	37	3	49723596	49723596	+	IGR	SNP	G	G	A	rs200900272		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.P349L|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	16.0	15.0					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	27	0	0	0	1	0	3	27				
GART	2618	broad.mit.edu	37	21	34911630	34911630	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:34911630C>T	ENST00000381831.3	-	2	256		c.e2-1		GART_ENST00000381815.4_5'UTR|GART_ENST00000361093.5_5'UTR|GART_ENST00000381839.3_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase						'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATTGTTCTGTCTGTAAAGCAG	0.438																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.e2-1		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						88.0	85.0	86.0					21																	34911630		2203	4300	6503	SO:0001630	splice_region_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34911630C>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.8-1G>A	21.37:g.34911630C>T						GART_ENST00000381839.3_5'UTR|GART_ENST00000381815.4_5'UTR|GART_ENST00000361093.5_5'UTR		NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			2	256	-								A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Splice_Site	SNP	ENST00000381831.3	37		CCDS13627.1																																																																																				0.438	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819	Intron	38	98	0	0	0	1	0	38	98				
DNAH2	146754	broad.mit.edu	37	17	7637984	7637984	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:7637984G>A	ENST00000572933.1	+	7	2396	c.936G>A	c.(934-936)tcG>tcA	p.S312S	DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S|DNAH2_ENST00000389173.2_Silent_p.S312S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	312	Stem. {ECO:0000250}.		S -> T (in dbSNP:rs3744254).		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S312S(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCAAGTCGTCCTACTTGG	0.522																																						ENST00000572933.1																			1	Substitution - coding silent(1)	p.S312S(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(934-936)tcG>tcA		dynein, axonemal, heavy chain 2							103.0	87.0	93.0					17																	7637984		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7637984G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.936G>A	17.37:g.7637984G>A						DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S|DNAH2_ENST00000389173.2_Silent_p.S312S	p.S312S			Q9P225	DYH2_HUMAN			7	2396	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	312		S -> T (in dbSNP:rs3744254).	Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.936G>A	CCDS32551.1																																																																																				0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		32	53	0	0	0	1	0	32	53				
BGN	633	broad.mit.edu	37	X	152773771	152773771	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:152773771C>T	ENST00000331595.4	+	8	1161	c.975C>T	c.(973-975)ttC>ttT	p.F325F	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	325					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGGGCTTCGGGGTGAAGC	0.617																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(973-975)ttC>ttT		biglycan							174.0	147.0	156.0					X																	152773771		2203	4300	6503	SO:0001819	synonymous_variant	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152773771C>T	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.975C>T	X.37:g.152773771C>T						BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Silent_p.F264F	p.F325F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			8	1161	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		325					D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	c.975C>T	CCDS14721.1																																																																																				0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		164	164	0	0	0	1	0	164	164				
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	Silent	SNP	A	A	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:128471489A>C	ENST00000322313.4	-	18	3134	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	992					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTCCTGGCCACCCCGGAAAG	0.662																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2974-2976)ggT>ggG		WD repeat domain 33							56.0	65.0	62.0					2																	128471489		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471489A>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2976T>G	2.37:g.128471489A>C							p.G992G	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3134	-	Colorectal(110;0.1)		992					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2976T>G	CCDS2150.1																																																																																				0.662	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		20	167	0	0	0	1	0	20	167				
SLC16A14	151473	broad.mit.edu	37	2	230923895	230923895	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:230923895G>A	ENST00000295190.4	-	2	632	c.174C>T	c.(172-174)aaC>aaT	p.N58N	RNY4P19_ENST00000362530.1_RNA	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCATTCCACGTTGAGGACAC	0.562																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(172-174)aaC>aaT		solute carrier family 16, member 14							84.0	80.0	81.0					2																	230923895		2203	4300	6503	SO:0001819	synonymous_variant	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230923895G>A	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.174C>T	2.37:g.230923895G>A							p.N58N	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	2	632	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	58					A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	c.174C>T	CCDS2473.1																																																																																				0.562	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		52	49	0	0	0	1	0	52	49				
HSPB7	27129	broad.mit.edu	37	1	16343699	16343699	+	Missense_Mutation	SNP	C	C	T	rs143274675		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:16343699C>T	ENST00000311890.9	-	2	1029	c.203G>A	c.(202-204)cGc>cAc	p.R68H	HSPB7_ENST00000375718.4_Missense_Mutation_p.R143H|HSPB7_ENST00000487046.1_Missense_Mutation_p.R73H|HSPB7_ENST00000406363.2_Missense_Mutation_p.R72H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R68H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	68	Required for localization to SC35 splicing speckles.				regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCGGGGCGGGCTGTGGG	0.627																																						ENST00000311890.9																			0				breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10						c.(202-204)cGc>cAc		heat shock 27kDa protein family, member 7 (cardiovascular)							107.0	111.0	110.0					1																	16343699		2203	4300	6503	SO:0001583	missense	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16343699C>T	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.203G>A	1.37:g.16343699C>T	ENSP00000310111:p.Arg68His					HSPB7_ENST00000375718.4_Missense_Mutation_p.R143H|HSPB7_ENST00000487046.1_Missense_Mutation_p.R73H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R68H|HSPB7_ENST00000406363.2_Missense_Mutation_p.R72H	p.R68H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	2	1029	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	68			Required for localization to SC35 splicing speckles.		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	ENST00000311890.9	37	c.203G>A	CCDS30611.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510719	0.27036	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.95447	-3.02;-3.04;-3.02;-3.56;-3.71;-3.04	5.23	5.23	0.72850	HSP20-like chaperone (1);	0.096519	0.44483	D	0.000444	D	0.90858	0.7128	L	0.29908	0.895	0.80722	D	1	P;D;B;B	0.60575	0.513;0.988;0.006;0.291	B;B;B;B	0.42386	0.02;0.386;0.003;0.015	D	0.88999	0.3420	10	0.18710	T	0.47	-9.48	13.1722	0.59604	0.0:0.8395:0.1604:0.0	.	143;94;156;68	Q8N241;Q7Z3C1;Q5T5Q2;Q9UBY9	.;.;.;HSPB7_HUMAN	H	68;68;143;161;27;73;72	ENSP00000391578:R68H;ENSP00000310111:R68H;ENSP00000364870:R143H;ENSP00000417966:R27H;ENSP00000419477:R73H;ENSP00000385472:R72H	ENSP00000310111:R68H	R	-	2	0	HSPB7	16216286	0.990000	0.36364	0.934000	0.37439	0.028000	0.11728	2.905000	0.48727	2.441000	0.82636	0.313000	0.20887	CGC		0.627	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		77	115	0	0	0	1	0	77	115				
TGIF2LX	90316	broad.mit.edu	37	X	89177102	89177102	+	Silent	SNP	C	C	T	rs372625687		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:89177102C>T	ENST00000561129.2	+	1	148	c.18C>T	c.(16-18)gaC>gaT	p.D6D	TGIF2LX_ENST00000283891.5_Silent_p.D6D			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D6D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGCTGCGGACGGCCCGGCTG	0.517																																						ENST00000561129.2																			1	Substitution - coding silent(1)	p.D6D(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(16-18)gaC>gaT		TGFB-induced factor homeobox 2-like, X-linked		C		0,3832		0,0,1631,570	45.0	53.0	51.0		18	-2.4	0.0	X		51	1,6727		0,1,2427,1872	no	coding-synonymous	TGIF2LX	NM_138960.3		0,1,4058,2442	TT,TC,CC,C		0.0149,0.0,0.0095		6/242	89177102	1,10559	2201	4300	6501	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177102C>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.18C>T	X.37:g.89177102C>T						TGIF2LX_ENST00000283891.5_Silent_p.D6D	p.D6D			Q8IUE1	TF2LX_HUMAN			1	148	+			6					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.18C>T	CCDS14459.1																																																																																				0.517	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		34	47	0	0	0	1	0	34	47				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000423517.2																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1823	-			442			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	366	0	0	0	1	0	13	366				
MMP23B	8510	broad.mit.edu	37	1	1571791	1571791	+	IGR	SNP	G	G	A	rs201006058		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1571791G>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V|CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V|CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000407249.3_Missense_Mutation_p.A660V			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CTTCTTGACTGCTGGGAGCTC	0.572																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1978-1980)gCa>gTa		cyclin-dependent kinase 11B							100.0	72.0	81.0					1																	1571791		1969	4139	6108	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1571791G>A		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1571791G>A						CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V|CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V	p.A660V			P21127	CD11B_HUMAN			19	1978	-			670			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	c.1979C>T	CCDS30559.1																																																																																				0.572	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		5	42	0	0	0	1	0	5	42				
MOGS	7841	broad.mit.edu	37	2	74689679	74689679	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:74689679G>A	ENST00000233616.4	-	4	1399	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.P307S|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	413					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCGATGTCTGGCAATACCAGC	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1237-1239)Cca>Tca		mannosyl-oligosaccharide glucosidase							96.0	106.0	103.0					2																	74689679		1962	4136	6098	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689679G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1237C>T	2.37:g.74689679G>A	ENSP00000233616:p.Pro413Ser					MOGS_ENST00000452063.2_Missense_Mutation_p.P307S|MOGS_ENST00000409065.1_3'UTR	p.P413S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1399	-			413					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1237C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621164	0.28889	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.40476	1.03;1.03;1.03	4.92	4.04	0.47022	.	0.138229	0.51477	D	0.000099	T	0.14960	0.0361	N	0.00980	-1.08	0.80722	D	1	B	0.12630	0.006	B	0.17979	0.02	T	0.09796	-1.0658	10	0.09338	T	0.73	-5.0755	12.888	0.58055	0.0:0.1764:0.8236:0.0	.	413	Q13724	MOGS_HUMAN	S	413;307;307	ENSP00000233616:P413S;ENSP00000388201:P307S;ENSP00000410992:P307S	ENSP00000233616:P413S	P	-	1	0	MOGS	74543187	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.872000	0.39549	1.286000	0.44565	0.655000	0.94253	CCA		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		5	240	0	0	0	1	0	5	240				
RUSC2	9853	broad.mit.edu	37	9	35546640	35546640	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35546640G>C	ENST00000455600.1	+	2	691	c.122G>C	c.(121-123)aGa>aCa	p.R41T	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	41						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(121-123)aGa>aCa		RUN and SH3 domain containing 2							77.0	72.0	74.0					9																	35546640		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35546640G>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.122G>C	9.37:g.35546640G>C	ENSP00000393922:p.Arg41Thr					RUSC2_ENST00000468041.1_3'UTR	p.R41T	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	691	+			41					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.122G>C	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986441	0.53934	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.48201	0.82;0.82	6.08	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	L	0.34521	1.04	0.45733	D	0.998631	P	0.36599	0.56	B	0.33121	0.158	T	0.38950	-0.9637	10	0.87932	D	0	-11.5968	16.5134	0.84293	0.0:0.1309:0.8691:0.0	.	41	Q8N2Y8	RUSC2_HUMAN	T	41	ENSP00000355177:R41T;ENSP00000393922:R41T	ENSP00000355177:R41T	R	+	2	0	RUSC2	35536640	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.959000	0.76031	1.564000	0.49628	-0.175000	0.13238	AGA		0.592	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		6	83	0	0	0	1	0	6	83				
TENM4	26011	broad.mit.edu	37	11	78369775	78369775	+	Silent	SNP	T	T	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:78369775T>C	ENST00000278550.7	-	34	8100	c.7638A>G	c.(7636-7638)acA>acG	p.T2546T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2546					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGCTGGTGATTGTGGAGCCAT	0.537																																						ENST00000278550.7																			0											c.(7636-7638)acA>acG		teneurin transmembrane protein 4							63.0	66.0	65.0					11																	78369775		2005	4160	6165	SO:0001819	synonymous_variant	26011							g.chr11:78369775T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7638A>G	11.37:g.78369775T>C							p.T2546T	NM_001098816.2	NP_001092286.2					34	8100	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7638A>G	CCDS44688.1																																																																																				0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			48	53	0	0	0	1	0	48	53				
CNTNAP2	26047	broad.mit.edu	37	7	147259309	147259309	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:147259309C>T	ENST00000361727.3	+	12	2373	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	619	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGATGGCAGCGGACCTCTGG	0.398										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1855-1857)agC>agT		contactin associated protein-like 2							109.0	106.0	107.0					7																	147259309		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259309C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1857C>T	7.37:g.147259309C>T		HNSCC(39;0.1)					p.S619S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2373	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	619			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1857C>T	CCDS5889.1																																																																																				0.398	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			42	94	0	0	0	1	0	42	94				
ZNF41	7592	broad.mit.edu	37	X	47307146	47307146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:47307146G>A	ENST00000377065.4	-	5	2662	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.R675*|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.R685*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	717					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGATTTGATCGGTCAGTGAAG	0.448																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(2023-2025)Cga>Tga		zinc finger protein 41							107.0	95.0	99.0					X																	47307146		2203	4300	6503	SO:0001587	stop_gained	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307146G>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.2023C>T	X.37:g.47307146G>A	ENSP00000366265:p.Arg675*					ZNF41_ENST00000397050.2_Nonsense_Mutation_p.R685*|ZNF41_ENST00000313116.7_Nonsense_Mutation_p.R675*	p.R675*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2662	-		all_lung(315;0.000129)	717					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Nonsense_Mutation	SNP	ENST00000377065.4	37	c.2023C>T	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	39	7.501389	0.98322	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	.	.	.	3.69	1.53	0.23141	.	0.000000	0.35378	N	0.003248	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1704	0.37076	0.0:0.0:0.2394:0.7605	.	.	.	.	X	675;675;685	.	ENSP00000315173:R675X	R	-	1	2	ZNF41	47192090	0.000000	0.05858	0.924000	0.36721	0.935000	0.57460	-0.136000	0.10405	0.239000	0.21243	-0.225000	0.12378	CGA		0.448	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		47	55	0	0	0	1	0	47	55				
CES4A	283848	broad.mit.edu	37	16	67034837	67034837	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:67034837C>T	ENST00000326686.5	+	4	480	c.480C>T	c.(478-480)cgC>cgT	p.R160R	CES4A_ENST00000338718.4_Silent_p.R183R|CES4A_ENST00000540579.1_Silent_p.R62R|CES4A_ENST00000398354.1_Silent_p.R160R|CES4A_ENST00000540947.2_Silent_p.R160R|CES4A_ENST00000535696.1_Silent_p.R62R|CES4A_ENST00000541479.1_Silent_p.R183R			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	160						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGGCCGCCCGCGAGAAAGTGG	0.647																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(478-480)cgC>cgT		carboxylesterase 4A							22.0	24.0	24.0					16																	67034837		1988	4149	6137	SO:0001819	synonymous_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67034837C>T	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.480C>T	16.37:g.67034837C>T						CES4A_ENST00000338718.4_Silent_p.R183R|CES4A_ENST00000541479.1_Silent_p.R183R|CES4A_ENST00000535696.1_Silent_p.R62R|CES4A_ENST00000326686.5_Silent_p.R160R|CES4A_ENST00000540579.1_Silent_p.R62R|CES4A_ENST00000398354.1_Silent_p.R160R	p.R160R	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			4	664	+			160					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37	c.480C>T																																																																																					0.647	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		16	35	0	0	0	1	0	16	35				
SEPT7	989	broad.mit.edu	37	7	35872445	35872445	+	Missense_Mutation	SNP	A	A	G	rs11538083		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:35872445A>G	ENST00000399034.2	+	3	300	c.107A>G	c.(106-108)aAt>aGt	p.N36S	SEPT7_ENST00000494488.2_Missense_Mutation_p.N21S|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.N34S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000350320.6_Missense_Mutation_p.N34S|SEPT7_ENST00000399035.3_Missense_Mutation_p.N34S			Q16181	SEPT7_HUMAN	septin 7	35					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGATTTGCCAATCTCCCAAAT	0.373																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(61-63)aAt>aGt		septin 7							165.0	158.0	160.0					7																	35872445		1835	4087	5922	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35872445A>G	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000399034.2:c.107A>G	7.37:g.35872445A>G	ENSP00000381992:p.Asn36Ser					SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.N34S|SEPT7_ENST00000350320.6_Missense_Mutation_p.N34S|SEPT7_ENST00000399034.2_Missense_Mutation_p.N36S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.N34S	p.N21S			Q16181	SEPT7_HUMAN			2	62	+			35					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000399034.2	37	c.62A>G		.	.	.	.	.	.	.	.	.	.	A	15.73	2.919909	0.52653	.	.	ENSG00000122545	ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000494488	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.58	5.58	0.84498	.	0.125187	0.52532	U	0.000071	T	0.25382	0.0617	L	0.35723	1.085	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.23018	0.043;0.043	T	0.06881	-1.0802	10	0.13108	T	0.6	.	14.7386	0.69437	1.0:0.0:0.0:0.0	.	34;35	E7EPK1;Q16181	.;SEPT7_HUMAN	S	36;34;34;34;21	ENSP00000381992:N36S;ENSP00000344868:N34S;ENSP00000444501:N34S;ENSP00000381993:N34S;ENSP00000438395:N21S	ENSP00000344868:N34S	N	+	2	0	SEPT7	35838970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.131000	0.65755	0.533000	0.62120	AAT		0.373	SEPT7-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001788		64	87	0	0	0	1	0	64	87				
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C	rs540749159	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:186276075T>C	ENST00000445192.2	+	7	1269	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367486.3_Silent_p.T365T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T408T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662													-|||	16	0.00319489	0.0053	0.0014	5008	,	,		9339	0.001		0.003	False		,,,				2504	0.0041					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T408T(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1222-1224)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276075T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1224T>C	1.37:g.186276075T>C						PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T	p.T408T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1269	+			408			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1224T>C	CCDS1369.1																																																																																				0.662	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	156	0	0	0	1	0	14	156				
ZCCHC12	170261	broad.mit.edu	37	X	117960229	117960229	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:117960229G>A	ENST00000310164.2	+	4	1529	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	341					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GCCAGGAAGCGAAAACACACA	0.493																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(1021-1023)cGa>cAa		zinc finger, CCHC domain containing 12							124.0	95.0	105.0					X																	117960229		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960229G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1022G>A	X.37:g.117960229G>A	ENSP00000308921:p.Arg341Gln						p.R341Q	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1529	+			341					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1022G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788422	0.49997	.	.	ENSG00000174460	ENST00000310164	T	0.76839	-1.05	3.3	3.3	0.37823	Zinc finger, CCHC retroviral-type (1);	.	.	.	.	D	0.84097	0.5397	M	0.65498	2.005	0.28260	N	0.924865	D	0.89917	1.0	D	0.81914	0.995	T	0.73789	-0.3872	9	0.32370	T	0.25	-2.6631	9.1783	0.37125	0.0:0.0:1.0:0.0	.	341	Q6PEW1	ZCH12_HUMAN	Q	341	ENSP00000308921:R341Q	ENSP00000308921:R341Q	R	+	2	0	ZCCHC12	117844257	0.996000	0.38824	0.931000	0.37212	0.608000	0.37181	3.765000	0.55272	1.901000	0.55032	0.600000	0.82982	CGA		0.493	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		62	90	0	0	0	1	0	62	90				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	39	0	0	0	1	0	3	39				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		6	222	1	0	0.248553	1	0.250897	6	222				
PLEKHN1	84069	broad.mit.edu	37	1	906524	906524	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:906524G>A	ENST00000379409.2	+	6	830	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G215E|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G227E			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	267										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGGCGTCAGGGCACGAACCC	0.692																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(799-801)gGg>gAg		pleckstrin homology domain containing, family N member 1							10.0	11.0	11.0					1																	906524		2177	4277	6454	SO:0001583	missense	84069							g.chr1:906524G>A	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.800G>A	1.37:g.906524G>A	ENSP00000368719:p.Gly267Glu					PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G215E|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.G227E	p.G267E			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	6	830	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	267					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.800G>A		.	.	.	.	.	.	.	.	.	.	G	12.69	2.014496	0.35511	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.43294	0.95;0.99;0.95	4.55	4.55	0.56014	.	0.147774	0.45126	D	0.000395	T	0.45597	0.1350	L	0.54323	1.7	0.35173	D	0.771757	D;P;P	0.57257	0.979;0.925;0.873	P;P;B	0.59487	0.858;0.691;0.439	T	0.52200	-0.8607	10	0.02654	T	1	.	8.4653	0.32953	0.1051:0.0:0.8949:0.0	.	227;267;215	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	E	215;227;267	ENSP00000368720:G215E;ENSP00000368717:G227E;ENSP00000368719:G267E	ENSP00000368717:G227E	G	+	2	0	PLEKHN1	896387	0.040000	0.19996	0.200000	0.23457	0.032000	0.12392	1.728000	0.38105	2.365000	0.80145	0.387000	0.25754	GGG		0.692	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		11	10	0	0	0	1	0	11	10				
PTPRU	10076	broad.mit.edu	37	1	29611340	29611340	+	Silent	SNP	C	C	T	rs544754887		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:29611340C>T	ENST00000345512.3	+	14	2406	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	PTPRU_ENST00000373779.3_Silent_p.L759L|PTPRU_ENST00000356870.3_Silent_p.L759L|PTPRU_ENST00000460170.2_Silent_p.L759L|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.L759L|PTPRU_ENST00000428026.2_Silent_p.L759L	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	759					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTGCTGTCCTCATCCTTCTCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19922	0.0		0.0	False		,,,				2504	0.001					ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2275-2277)ctC>ctT		protein tyrosine phosphatase, receptor type, U							95.0	82.0	87.0					1																	29611340		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29611340C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2277C>T	1.37:g.29611340C>T						PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.L759L|PTPRU_ENST00000460170.2_Silent_p.L759L|PTPRU_ENST00000428026.2_Silent_p.L759L|PTPRU_ENST00000356870.3_Silent_p.L759L|PTPRU_ENST00000323874.8_Silent_p.L759L	p.L759L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	14	2406	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	759					A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2277C>T	CCDS334.1																																																																																				0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			37	62	0	0	0	1	0	37	62				
TNNT3	7140	broad.mit.edu	37	11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T	rs367658497		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:1956135C>T	ENST00000397301.1	+	15	708	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000381558.1_Missense_Mutation_p.R215C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	234					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.R223C(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612																																						ENST00000381558.1																			1	Substitution - Missense(1)	p.R223C(1)	ovary(1)	breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(643-645)Cgc>Tgc		troponin T type 3 (skeletal, fast)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	123.0	127.0	126.0		643,661,643,667	3.2	1.0	11		126	1,8597		0,1,4298	no	missense,missense,missense,missense	TNNT3	NM_001042780.2,NM_001042781.2,NM_001042782.2,NM_006757.3	180,180,180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	215/251,221/257,215/251,223/259	1956135	1,13001	2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1956135C>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.700C>T	11.37:g.1956135C>T	ENSP00000380468:p.Arg234Cys					TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C	p.R215C			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	13	922	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	234					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.643C>T		.	.	.	.	.	.	.	.	.	.	.	15.09	2.730135	0.48939	0.0	1.16E-4	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	4.28	3.21	0.36854	.	0.106561	0.56097	D	0.000034	D	0.89413	0.6708	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.66847	0.947;0.947;0.947;0.947;0.886	D	0.89963	0.4088	10	0.87932	D	0	-33.8982	9.6127	0.39672	0.4829:0.5171:0.0:0.0	.	223;215;221;215;234	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	C	223;235;226;225;217;215;221;215;209;204;226;210;215;234;204;204	ENSP00000278317:R223C;ENSP00000370973:R226C;ENSP00000370960:R225C;ENSP00000353815:R217C;ENSP00000370961:R215C;ENSP00000371001:R221C;ENSP00000370991:R215C;ENSP00000370969:R209C;ENSP00000415614:R204C;ENSP00000370975:R226C;ENSP00000344870:R210C;ENSP00000370970:R215C;ENSP00000380468:R234C;ENSP00000380471:R204C;ENSP00000413203:R204C	ENSP00000278317:R223C	R	+	1	0	TNNT3	1912711	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	2.182000	0.42556	2.113000	0.64589	0.313000	0.20887	CGC		0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		95	124	0	0	0	1	0	95	124				
OR51T1	401665	broad.mit.edu	37	11	4903765	4903765	+	Silent	SNP	C	C	T	rs138268565	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:4903765C>T	ENST00000322049.1	+	1	636	c.636C>T	c.(634-636)gaC>gaT	p.D212D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.D239D			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													c|||	2	0.000399361	0.0	0.0029	5008	,	,		22131	0.0		0.0	False		,,,				2504	0.0					ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(715-717)gaC>gaT		olfactory receptor, family 51, subfamily T, member 1		T		0,4402		0,0,2201	115.0	106.0	109.0		717	-1.6	0.7	11	dbSNP_134	109	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	OR51T1	NM_001004759.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		239/355	4903765	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903765C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.636C>T	11.37:g.4903765C>T						MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000380390.1_Intron	p.D239D	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	717	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	212					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.717C>T																																																																																					0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		39	49	0	0	0	1	0	39	49				
MKNK1	8569	broad.mit.edu	37	1	47024299	47024299	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:47024299G>A	ENST00000371946.4	-	14	1509	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.A313V|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A408V	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	449					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTGGGCCAGGGCCCGTCTCCG	0.622																																						ENST00000371946.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13						c.(1345-1347)gCc>gTc		MAP kinase interacting serine/threonine kinase 1							36.0	41.0	39.0					1																	47024299		2203	4300	6503	SO:0001583	missense	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47024299G>A	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1346C>T	1.37:g.47024299G>A	ENSP00000361014:p.Ala449Val					MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A408V|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.A313V	p.A449V	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN			14	1509	-	Acute lymphoblastic leukemia(166;0.155)		449					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	c.1346C>T	CCDS538.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705011	0.88924	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944	T;T;T	0.70631	-0.11;-0.5;0.17	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.82559	0.5063	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.80764	0.985;0.994;0.985	T	0.80460	-0.1373	10	0.30854	T	0.27	.	17.3379	0.87287	0.0:0.0:1.0:0.0	.	313;408;449	Q7Z319;Q9BUB5-2;Q9BUB5	.;.;MKNK1_HUMAN	V	449;408;313	ENSP00000361014:A449V;ENSP00000361013:A408V;ENSP00000361012:A313V	ENSP00000361012:A313V	A	-	2	0	MKNK1	46796886	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.263000	0.95617	2.556000	0.86216	0.561000	0.74099	GCC		0.622	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		20	38	0	0	0	1	0	20	38				
IGKV1D-16	28901	broad.mit.edu	37	2	90139477	90139477	+	RNA	SNP	G	G	A	rs2848291		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:90139477G>A	ENST00000492446.1	+	0	275									immunoglobulin kappa variable 1D-16																		GTCCCATCAAGGTTCAGCGGC	0.483																																						ENST00000492446.1																			0																				95.0	98.0	97.0					2																	90139477		1847	4084	5931			0							g.chr2:90139477G>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139477G>A														0	275	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.483	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		4	189	0	0	0	1	0	4	189				
TAS2R40	259286	broad.mit.edu	37	7	142919653	142919653	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142919653C>T	ENST00000408947.3	+	1	524	c.482C>T	c.(481-483)tCg>tTg	p.S161L	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	161					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTTCCTCTCTCGAGAGATGTC	0.458																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(481-483)tCg>tTg		taste receptor, type 2, member 40							184.0	171.0	175.0					7																	142919653		1954	4157	6111	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919653C>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.482C>T	7.37:g.142919653C>T	ENSP00000386210:p.Ser161Leu						p.S161L	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	524	+	Melanoma(164;0.059)		161					A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.482C>T	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.335801	0.01287	.	.	ENSG00000221937	ENST00000408947	T	0.00675	5.88	5.74	-7.73	0.01245	.	1.055010	0.07484	U	0.904472	T	0.00695	0.0023	L	0.52206	1.635	0.09310	N	1	B	0.23316	0.083	B	0.16722	0.016	T	0.46205	-0.9208	10	0.11182	T	0.66	.	5.3197	0.15874	0.0829:0.2108:0.1642:0.5421	.	161	P59535	T2R40_HUMAN	L	161	ENSP00000386210:S161L	ENSP00000386210:S161L	S	+	2	0	TAS2R40	142629775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.971000	0.01503	-1.573000	0.01659	-0.878000	0.02970	TCG		0.458	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			62	150	0	0	0	1	0	62	150				
RUSC2	9853	broad.mit.edu	37	9	35548107	35548107	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35548107C>A	ENST00000455600.1	+	2	2158	c.1589C>A	c.(1588-1590)gCc>gAc	p.A530D		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	530						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGCAGCCATGGCCGGG	0.667																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1588-1590)gCc>gAc		RUN and SH3 domain containing 2							23.0	25.0	24.0					9																	35548107		2201	4296	6497	SO:0001583	missense	9853					cytosol		g.chr9:35548107C>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1589C>A	9.37:g.35548107C>A	ENSP00000393922:p.Ala530Asp						p.A530D	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2158	+			530					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1589C>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936145	0.34189	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.25414	1.8;1.8	5.67	2.84	0.33178	.	0.665181	0.14956	N	0.288630	T	0.16385	0.0394	L	0.29908	0.895	0.21220	N	0.99975	P	0.37015	0.578	B	0.33890	0.172	T	0.11591	-1.0581	10	0.54805	T	0.06	-3.0072	6.7221	0.23336	0.0:0.6874:0.1556:0.157	.	530	Q8N2Y8	RUSC2_HUMAN	D	530	ENSP00000355177:A530D;ENSP00000393922:A530D	ENSP00000355177:A530D	A	+	2	0	RUSC2	35538107	0.035000	0.19736	0.998000	0.56505	0.936000	0.57629	3.370000	0.52372	0.331000	0.23511	0.655000	0.94253	GCC		0.667	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		15	36	1	0	1.5739e-10	1	1.63502e-10	15	36				
EXOC1	55763	broad.mit.edu	37	4	56734654	56734654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:56734654G>T	ENST00000381295.2	+	5	916	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E190*|EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E190*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	190					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGCCTTTGCAGAAAAATTGTC	0.393																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(568-570)Gaa>Taa		exocyst complex component 1							101.0	100.0	100.0					4																	56734654		2203	4300	6503	SO:0001587	stop_gained	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56734654G>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.568G>T	4.37:g.56734654G>T	ENSP00000370695:p.Glu190*					EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E190*|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E190*	p.E190*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			5	916	+	Glioma(25;0.08)|all_neural(26;0.101)		190					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Nonsense_Mutation	SNP	ENST00000381295.2	37	c.568G>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	39	7.900149	0.98551	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	20.2371	0.98361	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000326514:E190X	E	+	1	0	EXOC1	56429411	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.363000	0.97131	2.788000	0.95919	0.555000	0.69702	GAA		0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		25	31	1	0	2.41591e-17	1	2.53434e-17	25	31				
KCNH3	23416	broad.mit.edu	37	12	49937975	49937975	+	Silent	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:49937975G>T	ENST00000257981.6	+	7	1259	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	333					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCCATCTGCTGAAGACGG	0.701																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(997-999)ctG>ctT		potassium voltage-gated channel, subfamily H (eag-related), member 3							15.0	16.0	15.0					12																	49937975		2185	4271	6456	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49937975G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.999G>T	12.37:g.49937975G>T							p.L333L	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			7	1259	+			333					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.999G>T	CCDS8786.1																																																																																				0.701	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		11	16	1	0	6.40141e-05	1	6.58607e-05	11	16				
DNM1P47	100216544	broad.mit.edu	37	15	102312969	102312969	+	RNA	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr15:102312969C>T	ENST00000561463.1	+	0	14337				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		TTGGCTCCAGCGGAGTTGAAA	0.572																																						ENST00000561463.1																			0																																																			0							g.chr15:102312969C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312969C>T														0	14337	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.572	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		12	15	0	0	0	1	0	12	15				
MYH10	4628	broad.mit.edu	37	17	8379260	8379260	+	Silent	SNP	A	A	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8379260A>C	ENST00000269243.4	-	41	5931	c.5793T>G	c.(5791-5793)ggT>ggG	p.G1931G	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Silent_p.G1947G|MYH10_ENST00000360416.3_Silent_p.G1962G|MYH10_ENST00000396239.1_Silent_p.G1952G	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1931					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGATGGGGCCACCCCGCCTGG	0.567																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5884-5886)ggT>ggG		myosin, heavy chain 10, non-muscle							55.0	55.0	55.0					17																	8379260		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8379260A>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5793T>G	17.37:g.8379260A>C						MYH10_ENST00000396239.1_Silent_p.G1952G|MYH10_ENST00000269243.4_Silent_p.G1931G|MYH10_ENST00000379980.4_Silent_p.G1947G|NDEL1_ENST00000299734.7_Intron	p.G1962G	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			43	6024	-			1931					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.5886T>G	CCDS11144.1																																																																																				0.567	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			12	60	0	0	0	1	0	12	60				
HSPG2	3339	broad.mit.edu	37	1	22176934	22176934	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:22176934C>T	ENST00000374695.3	-	56	7295	c.7216G>A	c.(7216-7218)Gtg>Atg	p.V2406M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2406	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACTCGGCACACGTACTCGCCC	0.657																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7216-7218)Gtg>Atg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						29.0	28.0	28.0					1																	22176934		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176934C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7216G>A	1.37:g.22176934C>T	ENSP00000363827:p.Val2406Met					HSPG2_ENST00000430507.1_3'UTR	p.V2406M	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	56	7295	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2406			Ig-like C2-type 9.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7216G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697988	0.30142	.	.	ENSG00000142798	ENST00000374695	T	0.16073	2.37	5.45	1.56	0.23342	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003638	T	0.33323	0.0859	M	0.67569	2.06	0.30293	N	0.790238	P;D	0.89917	0.766;1.0	B;D	0.91635	0.227;0.999	T	0.14952	-1.0454	10	0.42905	T	0.14	.	7.7551	0.28919	0.0:0.5805:0.0:0.4195	.	346;2406	Q59EG0;P98160	.;PGBM_HUMAN	M	2406	ENSP00000363827:V2406M	ENSP00000363827:V2406M	V	-	1	0	HSPG2	22049521	0.056000	0.20664	0.399000	0.26333	0.042000	0.13812	0.203000	0.17315	0.043000	0.15746	-0.254000	0.11334	GTG		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		10	18	0	0	0	1	0	10	18				
TUBB4A	10382	broad.mit.edu	37	19	6495759	6495759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:6495759G>A	ENST00000264071.2	-	4	1122	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R251C|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	251					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GCCAGCTTGCGCAGGTCGGCG	0.682																																						ENST00000264071.2																			0											c.(751-753)Cgc>Tgc		tubulin, beta 4A class IVa							57.0	55.0	55.0					19																	6495759		2203	4299	6502	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495759G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.751C>T	19.37:g.6495759G>A	ENSP00000264071:p.Arg251Cys					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R251C	p.R251C			P04350	TBB4_HUMAN			4	1122	-			251					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.751C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561978	0.45590	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84873	-1.91;-1.91	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000001	D	0.94391	0.8196	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.96193	0.9139	10	0.87932	D	0	.	14.8127	0.70008	0.0:0.0:1.0:0.0	.	251	P04350	TBB4A_HUMAN	C	251;251;169	ENSP00000264071:R251C;ENSP00000443590:R251C	ENSP00000264071:R251C	R	-	1	0	TUBB4	6446759	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.664000	0.83830	1.750000	0.51863	0.485000	0.47835	CGC		0.682	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		45	139	0	0	0	1	0	45	139				
SLC35F3	148641	broad.mit.edu	37	1	234367298	234367298	+	Missense_Mutation	SNP	C	C	T	rs141749628		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:234367298C>T	ENST00000366617.3	+	2	440	c.212C>T	c.(211-213)gCg>gTg	p.A71V	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A140V			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	71					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGGGCGTGGCGGTCGTGCTG	0.697																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(418-420)gCg>gTg		solute carrier family 35, member F3							105.0	92.0	97.0					1																	234367298		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234367298C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.212C>T	1.37:g.234367298C>T	ENSP00000355576:p.Ala71Val					SLC35F3_ENST00000366617.3_Missense_Mutation_p.A71V	p.A140V	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	564	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	71					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.419C>T		.	.	.	.	.	.	.	.	.	.	C	7.624	0.677403	0.14841	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.41758	0.99;1.0	4.57	3.65	0.41850	.	0.159125	0.56097	D	0.000034	T	0.27765	0.0683	L	0.41236	1.265	0.43647	D	0.996052	B;B	0.30455	0.028;0.28	B;B	0.23018	0.008;0.043	T	0.04650	-1.0936	10	0.12103	T	0.63	-9.9982	9.8147	0.40844	0.0:0.833:0.0:0.167	.	71;140	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	V	140;71	ENSP00000355577:A140V;ENSP00000355576:A71V	ENSP00000355576:A71V	A	+	2	0	SLC35F3	232433921	0.961000	0.32948	0.998000	0.56505	0.988000	0.76386	2.183000	0.42565	1.119000	0.41883	0.491000	0.48974	GCG		0.697	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		4	165	0	0	0	1	0	4	165				
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	rs199633532		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17348	0.0		0.001	False		,,,				2504	0.0					ENST00000242592.4																			2	Substitution - Missense(2)	p.R330H(2)	prostate(1)|kidney(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM067634	ACADS	M		c.(988-990)cGc>cAc		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						46.0	52.0	50.0					12																	121176678		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176678G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His					ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	p.R330H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			8	1140	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.989G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		55	79	0	0	0	1	0	55	79				
MAMLD1	10046	broad.mit.edu	37	X	149638772	149638772	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:149638772G>A	ENST00000370401.2	+	4	1237	c.927G>A	c.(925-927)gcG>gcA	p.A309A	MAMLD1_ENST00000426613.2_Silent_p.A284A|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.A309A|MAMLD1_ENST00000432680.2_Silent_p.A284A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	309					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A236A(1)|p.A309A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGAAGGCGTTGGCAGCCA	0.632																																						ENST00000370401.2																			2	Substitution - coding silent(2)	p.A236A(1)|p.A309A(1)	large_intestine(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(925-927)gcG>gcA		mastermind-like domain containing 1							80.0	57.0	65.0					X																	149638772		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638772G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.927G>A	X.37:g.149638772G>A						MAMLD1_ENST00000432680.2_Silent_p.A284A|MAMLD1_ENST00000262858.5_Silent_p.A309A|MAMLD1_ENST00000426613.2_Silent_p.A284A	p.A309A			Q13495	MAMD1_HUMAN			4	1237	+	Acute lymphoblastic leukemia(192;6.56e-05)		309					B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.927G>A	CCDS14693.2																																																																																				0.632	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		59	78	0	0	0	1	0	59	78				
KRTAP4-11	653240	broad.mit.edu	37	17	39274238	39274238	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(328-330)tgT>tgC		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274238A>G	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.330T>C	17.37:g.39274238A>G							p.C110C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	368	-		Breast(137;0.000496)	110			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.330T>C	CCDS45675.1																																																																																				0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	69	0	0	0	1	0	5	69				
MAP7D3	79649	broad.mit.edu	37	X	135313709	135313709	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:135313709A>G	ENST00000316077.9	-	8	1627	c.1407T>C	c.(1405-1407)gcT>gcC	p.A469A	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Silent_p.A451A|MAP7D3_ENST00000370661.1_Silent_p.A434A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	469					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AAACCTTTGGAGCGTCTCTCG	0.423																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1405-1407)gcT>gcC		MAP7 domain containing 3							128.0	113.0	118.0					X																	135313709		1881	4107	5988	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135313709A>G	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1407T>C	X.37:g.135313709A>G						MAP7D3_ENST00000370661.1_Silent_p.A434A|MAP7D3_ENST00000370663.5_Silent_p.A451A	p.A469A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1627	-	Acute lymphoblastic leukemia(192;0.000127)		469					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1407T>C	CCDS44004.1																																																																																				0.423	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			65	91	0	0	0	1	0	65	91				
SLC6A12	6539	broad.mit.edu	37	12	311930	311930	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:311930T>G	ENST00000428720.1	-	5	1209	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000359674.4_Missense_Mutation_p.T156P|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T156P|SLC6A12_ENST00000424061.2_Missense_Mutation_p.T156P	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	156					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGTTGCAGGTCGTCCAGGGC	0.517																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(466-468)Acc>Ccc		solute carrier family 6 (neurotransmitter transporter), member 12							105.0	93.0	97.0					12																	311930		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:311930T>G	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.466A>C	12.37:g.311930T>G	ENSP00000388184:p.Thr156Pro					SLC6A12_ENST00000424061.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T156P|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000359674.4_Missense_Mutation_p.T156P|SLC6A12_ENST00000538272.1_5'UTR	p.T156P	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		5	1209	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		156					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.466A>C	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649745	0.67358	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.48	4.31	0.51392	.	0.108387	0.64402	D	0.000010	D	0.86871	0.6037	M	0.90425	3.115	0.09310	N	0.999999	D	0.56035	0.974	D	0.68943	0.961	T	0.79640	-0.1719	10	0.48119	T	0.1	.	11.5616	0.50780	0.0:0.0709:0.0:0.9291	.	156	P48065	S6A12_HUMAN	P	156	ENSP00000352702:T156P;ENSP00000380464:T156P;ENSP00000388184:T156P;ENSP00000399136:T156P;ENSP00000444268:T156P	ENSP00000352702:T156P	T	-	1	0	SLC6A12	182191	0.003000	0.15002	0.605000	0.28930	0.946000	0.59487	1.299000	0.33424	0.885000	0.36088	0.460000	0.39030	ACC		0.517	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		34	51	0	0	0	1	0	34	51				
EPPK1	83481	broad.mit.edu	37	8	144941624	144941624	+	Missense_Mutation	SNP	G	G	A	rs561179913		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144941624G>A	ENST00000525985.1	-	2	5869	c.5798C>T	c.(5797-5799)gCg>gTg	p.A1933V				P58107	EPIPL_HUMAN	epiplakin 1	1933						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGGCCTGCGCCTCCAGCAG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16171	0.0		0.001	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5797-5799)gCg>gTg		epiplakin 1							26.0	33.0	31.0					8																	144941624		2045	4159	6204	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941624G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5798C>T	8.37:g.144941624G>A	ENSP00000436337:p.Ala1933Val						p.A1933V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5869	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1933					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5798C>T		.	.	.	.	.	.	.	.	.	.	G	20.5	4.008244	0.75046	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.73	4.73	0.59995	.	.	.	.	.	D	0.88070	0.6338	M	0.80982	2.52	0.44966	D	0.997985	D	0.89917	1.0	D	0.91635	0.999	D	0.89676	0.3887	9	0.87932	D	0	.	15.2258	0.73352	0.0:0.0:1.0:0.0	.	1933	E9PPU0	.	V	1933	ENSP00000436337:A1933V	ENSP00000436337:A1933V	A	-	2	0	EPPK1	145013612	1.000000	0.71417	0.946000	0.38457	0.056000	0.15407	9.489000	0.97949	2.459000	0.83118	0.585000	0.79938	GCG		0.667	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		35	64	0	0	0	1	0	35	64				
TRPV6	55503	broad.mit.edu	37	7	142573633	142573633	+	Missense_Mutation	SNP	G	G	A	rs146718533		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142573633G>A	ENST00000359396.3	-	7	1032	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	263					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGTGCTTCCGCTTCTGCATC	0.522																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(787-789)Cgg>Tgg		transient receptor potential cation channel, subfamily V, member 6		G	TRP/ARG	0,4406		0,0,2203	190.0	147.0	162.0		787	0.1	1.0	7	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRPV6	NM_018646.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	263/726	142573633	1,13005	2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573633G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.787C>T	7.37:g.142573633G>A	ENSP00000352358:p.Arg263Trp					RP11-114L10.2_ENST00000438839.1_RNA	p.R263W	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			7	1032	-	Melanoma(164;0.059)		263					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.787C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770027	0.49680	0.0	1.16E-4	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.87256	-2.23	4.96	0.047	0.14278	Ankyrin repeat-containing domain (1);	0.186416	0.45361	N	0.000378	T	0.76593	0.4009	L	0.55213	1.73	0.44789	D	0.997798	P	0.40431	0.717	B	0.27380	0.079	T	0.69796	-0.5048	10	0.87932	D	0	-19.5909	5.5639	0.17160	0.1814:0.0:0.539:0.2796	.	263	Q9H1D0	TRPV6_HUMAN	W	263;95	ENSP00000352358:R263W	ENSP00000310825:R95W	R	-	1	2	TRPV6	142283755	0.973000	0.33851	0.999000	0.59377	0.984000	0.73092	0.203000	0.17315	0.085000	0.17107	0.655000	0.94253	CGG		0.522	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		78	170	0	0	0	1	0	78	170				
CELSR2	1952	broad.mit.edu	37	1	109805496	109805496	+	Missense_Mutation	SNP	G	G	A	rs148197539	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:109805496G>A	ENST00000271332.3	+	7	4674	c.4613G>A	c.(4612-4614)cGa>cAa	p.R1538Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1538	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCCCAGTCCGAATGCGGCAG	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4612-4614)cGa>cAa		cadherin, EGF LAG seven-pass G-type receptor 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	57.0	57.0		4613	3.8	0.7	1	dbSNP_134	57	0,8600		0,0,4300	no	missense	CELSR2	NM_001408.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1538/2924	109805496	1,13005	2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109805496G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4613G>A	1.37:g.109805496G>A	ENSP00000271332:p.Arg1538Gln						p.R1538Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	7	4674	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1538			Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4613G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094081	0.36952	2.27E-4	0.0	ENSG00000143126	ENST00000271332	T	0.78364	-1.17	4.74	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.35307	0.0927	N	0.15975	0.35	0.41683	D	0.989306	B	0.33777	0.425	B	0.27796	0.083	T	0.31138	-0.9954	9	0.12430	T	0.62	.	7.1081	0.25374	0.1545:0.1415:0.704:0.0	.	1538	Q9HCU4	CELR2_HUMAN	Q	1538	ENSP00000271332:R1538Q	ENSP00000271332:R1538Q	R	+	2	0	CELSR2	109607019	0.001000	0.12720	0.711000	0.30485	0.917000	0.54804	0.803000	0.27083	1.358000	0.45922	0.561000	0.74099	CGA		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	149	0	0	0	1	0	4	149				
PFKFB2	5208	broad.mit.edu	37	1	207252343	207252343	+	IGR	SNP	G	G	A	rs144692490		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:207252343G>A	ENST00000367080.3	+	0	7094				PFKFB2_ENST00000367079.2_Silent_p.A465A|PFKFB2_ENST00000411990.2_Silent_p.A367A|PFKFB2_ENST00000541914.1_Silent_p.A258A|PFKFB2_ENST00000473310.1_3'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CCTCCGCAGCGTCCCTCATGT	0.552																																						ENST00000367079.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1393-1395)gcG>gcA		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2		G		1,4405	2.1+/-5.4	0,1,2202	154.0	142.0	146.0		1395	-10.0	0.0	1	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous	PFKFB2	NM_001018053.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		465/472	207252343	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207252343G>A		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033		1.37:g.207252343G>A						PFKFB2_ENST00000541914.1_Silent_p.A258A|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000411990.2_Silent_p.A367A	p.A465A	NM_001018053.1	NP_001018063.1	O60825	F262_HUMAN			15	1468	+	Prostate(682;0.19)		0			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	c.1395G>A	CCDS31004.1																																																																																				0.552	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			75	94	0	0	0	1	0	75	94				
KDM6A	7403	broad.mit.edu	37	X	44949046	44949046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:44949046G>A	ENST00000377967.4	+	25	3648	c.3607G>A	c.(3607-3609)Gca>Aca	p.A1203T	KDM6A_ENST00000382899.4_Missense_Mutation_p.A1210T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A1124T|KDM6A_ENST00000536777.1_Missense_Mutation_p.A1158T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1203	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTTTATGAAGCAAATGTTCC	0.373			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3607-3609)Gca>Aca		lysine (K)-specific demethylase 6A							149.0	125.0	133.0					X																	44949046		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949046G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3607G>A	X.37:g.44949046G>A	ENSP00000367203:p.Ala1203Thr					KDM6A_ENST00000536777.1_Missense_Mutation_p.A1158T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A1124T|KDM6A_ENST00000382899.4_Missense_Mutation_p.A1210T	p.A1203T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			25	3648	+			1203			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3607G>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.81|14.81	2.645820|2.645820	0.47258|0.47258	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.	0.052868|.	0.85682|.	D|.	0.000000|.	T|T	0.82010|0.82010	0.4944|0.4944	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	B;P;B;B;B|.	0.41313|.	0.186;0.745;0.02;0.026;0.064|.	B;B;B;B;B|.	0.40444|.	0.096;0.329;0.02;0.057;0.137|.	D|D	0.83608|0.83608	0.0132|0.0132	10|5	0.66056|.	D|.	0.02|.	-13.5524|-13.5524	18.2517|18.2517	0.90006|0.90006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	842;1210;1158;1255;1203|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	T|N	900;1203;1158;1210;1124|800;845	ENSP00000367203:A1203T;ENSP00000437405:A1158T;ENSP00000372355:A1210T;ENSP00000443078:A1124T|.	ENSP00000334340:A900T|.	A|S	+|+	1|2	0|0	KDM6A|KDM6A	44833990|44833990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.134000|5.134000	0.64770|0.64770	2.249000|2.249000	0.74217|0.74217	0.468000|0.468000	0.43344|0.43344	GCA|AGC		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		16	33	0	0	0	1	0	16	33				
ARHGEF15	22899	broad.mit.edu	37	17	8216517	8216517	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8216517C>T	ENST00000361926.3	+	3	989	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_ENST00000421050.1_Silent_p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	293					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(877-879)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 15							55.0	52.0	53.0					17																	8216517		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216517C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.879C>T	17.37:g.8216517C>T						ARHGEF15_ENST00000421050.1_Silent_p.F293F	p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	989	+			293					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.879C>T	CCDS11139.1																																																																																				0.592	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		33	55	0	0	0	1	0	33	55				
DCHS2	54798	broad.mit.edu	37	4	155176790	155176790	+	Silent	SNP	G	G	A	rs200803727	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1819	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408													G|||	16	0.00319489	0.0	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0164					ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5455-5457)aaC>aaT		dachsous cadherin-related 2							108.0	99.0	102.0					4																	155176790		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176790G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5457C>T	4.37:g.155176790G>A							p.N1819N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5456	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1819			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5457C>T	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		22	18	0	0	0	1	0	22	18				
SNAPIN	23557	broad.mit.edu	37	1	153632019	153632021	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:153632019_153632021delAAC	ENST00000368685.5	+	3	376_378	c.286_288delAAC	c.(286-288)aacdel	p.N97del	SNAPIN_ENST00000478558.1_3'UTR|ILF2_ENST00000480213.1_5'Flank	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	97	Interaction with TOR1A.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCTTGGTTAACAACATTCTAC	0.433																																						ENST00000368685.5																			0				lung(3)	3						c.(286-288)del		SNAP-associated protein																																				SO:0001651	inframe_deletion	23557				intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	g.chr1:153632019_153632021delAAC	AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17145	protein-coding gene	gene with protein product	"""snapin"", ""SNAP-25-binding protein"", ""biogenesis of lysosomal organelles complex-1, subunit 7"""	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.286_288delAAC	1.37:g.153632022_153632024delAAC	ENSP00000357674:p.Asn97del					SNAPIN_ENST00000478558.1_3'UTR	p.N97del	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	376_378	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		97					D3DV56|Q5SXU8	In_Frame_Del	DEL	ENST00000368685.5	37	c.286_288delAAC	CCDS1049.1																																																																																				0.433	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		47	72						47	72	---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:161202999_161203000insG	ENST00000367982.4	-	4	522_523	c.367_368insC	c.(367-369)cgcfs	p.R123fs	NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.R48fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.R123fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(367-369)ccafs		nuclear receptor subfamily 1, group I, member 3																																				SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202999_161203000insG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368dupC	1.37:g.161203002_161203002dupG	ENSP00000356961:p.Arg123fs					NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000502985.1_Intron	p.P123fs			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	661_662	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		123					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	ENST00000367982.4	37	c.367_368insC	CCDS41430.1																																																																																				0.564	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			7	273						7	273	---	---	---	---
WASH2P	375260	broad.mit.edu	37	2	114355905	114355906	+	RNA	INS	-	-	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:114355905_114355906insT	ENST00000538033.2	+	0	2154							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGTCATGGGGGTGGGGACAGGG	0.599																																						ENST00000538033.2																			0																																																			0							g.chr2:114355905_114355906insT			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355906_114355906dupT														0	2154	+									RNA	INS	ENST00000538033.2	37																																																																																						0.599	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		2	4						2	4	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			10	229						10	229	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	189						8	189	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144990367	144990367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144990367delC	ENST00000322810.4	-	32	14202	c.14033delG	c.(14032-14034)ggcfs	p.G4678fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.G4519fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.G4509fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.G4545fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.G4564fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.G4568fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.G4527fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4678	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGACTCAGGGCCCCCCAGGGA	0.716																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(14032-14034)gcfs		plectin							2.0	2.0	2.0					8																	144990367		1157	2769	3926	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990367delC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.14033delG	8.37:g.144990367delC	ENSP00000323856:p.Gly4678fs					PLEC_ENST00000356346.3_Frame_Shift_Del_p.G4527fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.G4545fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.G4564fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.G4509fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.G4568fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.G4519fs	p.G4678fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	14202	-			4678			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.14033delG	CCDS43772.1																																																																																				0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		2	4						2	4	---	---	---	---
PTAR1	375743	broad.mit.edu	37	9	72349082	72349082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:72349082delC	ENST00000340434.4	-	4	415	c.412delG	c.(412-414)gaafs	p.E138fs	PTAR1_ENST00000377200.5_Frame_Shift_Del_p.E59fs	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	138					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ATCCATGTTTCTGGACTCTTT	0.388																																						ENST00000377200.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(175-177)aafs		protein prenyltransferase alpha subunit repeat containing 1							105.0	101.0	102.0					9																	72349082		1834	4083	5917	SO:0001589	frameshift_variant	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72349082delC	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.412delG	9.37:g.72349082delC	ENSP00000344299:p.Glu138fs					PTAR1_ENST00000340434.4_Frame_Shift_Del_p.E138fs	p.E59fs			Q7Z6K3	PTAR1_HUMAN			2	177	-			138					Q5T7V5|Q5T7V6	Frame_Shift_Del	DEL	ENST00000340434.4	37	c.175delG	CCDS47978.1																																																																																				0.388	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		16	17						16	17	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		2	4						2	4	---	---	---	---
