#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
ITPR2	3709	broad.mit.edu	37	12	26750054	26750054	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:26750054C>A	ENST00000381340.3	-	31	4432	c.4016G>T	c.(4015-4017)gGt>gTt	p.G1339V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1339					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACGTCTTCACCCCCATTTAT	0.413																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4015-4017)gGt>gTt		inositol 1,4,5-trisphosphate receptor, type 2							153.0	143.0	146.0					12																	26750054		1926	4139	6065	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26750054C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4016G>T	12.37:g.26750054C>A	ENSP00000370744:p.Gly1339Val						p.G1339V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			31	4432	-	Colorectal(261;0.0847)		1339					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4016G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285470	0.80803	.	.	ENSG00000123104	ENST00000381340	D	0.97016	-4.21	4.3	4.3	0.51218	Intracellular calcium-release channel (1);	0.115758	0.64402	D	0.000015	D	0.97967	0.9331	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98132	1.0431	10	0.48119	T	0.1	.	17.3056	0.87194	0.0:1.0:0.0:0.0	.	1339	Q14571	ITPR2_HUMAN	V	1339	ENSP00000370744:G1339V	ENSP00000370744:G1339V	G	-	2	0	ITPR2	26641321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.596000	0.82721	2.371000	0.80710	0.555000	0.69702	GGT		0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		28	70	1	0	2.81731e-10	1	3.18801e-10	28	70				
NHP2L1	4809	broad.mit.edu	37	22	42071072	42071072	+	Silent	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:42071072G>A	ENST00000401959.1	-	4	568	c.252C>T	c.(250-252)cgC>cgT	p.R84R	NHP2L1_ENST00000215956.5_Silent_p.R84R|NHP2L1_ENST00000402458.1_Silent_p.R88R|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Silent_p.R84R	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						CCTGCTTGGAGCGCACAAACA	0.572																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)cgC>cgT		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							84.0	77.0	79.0					22																	42071072		2203	4300	6503	SO:0001819	synonymous_variant	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071072G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.252C>T	22.37:g.42071072G>A						NHP2L1_ENST00000215956.5_Silent_p.R84R|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Silent_p.R84R|NHP2L1_ENST00000402458.1_Silent_p.R88R	p.R84R	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	568	-			84						Silent	SNP	ENST00000401959.1	37	c.252C>T	CCDS14022.1																																																																																				0.572	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		24	47	0	0	0	1	0	24	47				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	19	0	0	0	1	0	3	19				
RTTN	25914	broad.mit.edu	37	18	67759936	67759936	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr18:67759936C>G	ENST00000255674.6	-	29	4294	c.4008G>C	c.(4006-4008)gaG>gaC	p.E1336D	RTTN_ENST00000437017.1_Missense_Mutation_p.E1336D|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1336					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGGCCATCATCTCATGGGATA	0.443																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4006-4008)gaG>gaC		rotatin							103.0	103.0	103.0					18																	67759936		2011	4168	6179	SO:0001583	missense	25914						binding	g.chr18:67759936C>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4008G>C	18.37:g.67759936C>G	ENSP00000255674:p.Glu1336Asp					RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.E1336D	p.E1336D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			29	4294	-		Esophageal squamous(42;0.129)	1336					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4008G>C	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184956	0.78677	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.62941	-0.01;-0.01	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76868	-0.2800	10	0.87932	D	0	.	9.9956	0.41898	0.0:0.8734:0.0:0.1266	.	1336	Q86VV8	RTTN_HUMAN	D	1336	ENSP00000255674:E1336D;ENSP00000399520:E1336D	ENSP00000255674:E1336D	E	-	3	2	RTTN	65910916	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.302000	0.43637	2.477000	0.83638	0.586000	0.80456	GAG		0.443	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		3	55	0	0	0	1	0	3	55				
HS3ST3A1	9955	broad.mit.edu	37	17	13400052	13400052	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:13400052C>T	ENST00000284110.1	-	2	1480	c.683G>A	c.(682-684)cGc>cAc	p.R228H	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26H	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCGAGATGCGCGCGGGGGC	0.637																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(682-684)cGc>cAc		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							71.0	91.0	84.0					17																	13400052		2203	4300	6503	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400052C>T	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.683G>A	17.37:g.13400052C>T	ENSP00000284110:p.Arg228His					HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26H	p.R228H	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1480	-		all_lung(20;0.114)	228					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.683G>A	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849219	0.91277	.	.	ENSG00000153976	ENST00000284110	T	0.52983	0.64	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.79246	0.4413	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84965	0.0879	10	0.87932	D	0	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	228	Q9Y663	HS3SA_HUMAN	H	228	ENSP00000284110:R228H	ENSP00000284110:R228H	R	-	2	0	HS3ST3A1	13340777	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.807000	0.69157	2.873000	0.98535	0.563000	0.77884	CGC		0.637	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		4	114	0	0	0	1	0	4	114				
MORC1	27136	broad.mit.edu	37	3	108698424	108698424	+	Silent	SNP	C	C	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:108698424C>A	ENST00000483760.1	-	23	2395	c.2352G>T	c.(2350-2352)tcG>tcT	p.S784S	MORC1_ENST00000232603.5_Silent_p.S805S					MORC family CW-type zinc finger 1									p.S805S(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAGACGCTGGCGAAGAAGCAA	0.418																																						ENST00000232603.5																			1	Substitution - coding silent(1)	p.S805S(1)	large_intestine(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2413-2415)tcG>tcT		MORC family CW-type zinc finger 1							114.0	111.0	112.0					3																	108698424		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108698424C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2352G>T	3.37:g.108698424C>A						MORC1_ENST00000483760.1_Silent_p.S784S	p.S805S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			24	2497	-			805						Silent	SNP	ENST00000483760.1	37	c.2415G>T																																																																																					0.418	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			40	69	1	0	1.07121e-22	1	1.24492e-22	40	69				
LUC7L3	51747	broad.mit.edu	37	17	48819020	48819020	+	Silent	SNP	C	C	A	rs150132332		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:48819020C>A	ENST00000505658.1	+	5	543	c.354C>A	c.(352-354)gcC>gcA	p.A118A	LUC7L3_ENST00000240304.1_Silent_p.A118A|LUC7L3_ENST00000544170.1_Silent_p.A42A|LUC7L3_ENST00000393227.2_Silent_p.A118A			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	118					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TTCAATAGGCCGCTGGCCCAA	0.328																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(352-354)gcC>gcA		LUC7-like 3 (S. cerevisiae)							58.0	54.0	55.0					17																	48819020		2203	4300	6503	SO:0001819	synonymous_variant	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48819020C>A		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.354C>A	17.37:g.48819020C>A						LUC7L3_ENST00000393227.2_Silent_p.A118A|LUC7L3_ENST00000240304.1_Silent_p.A118A|LUC7L3_ENST00000544170.1_Silent_p.A42A	p.A118A			O95232	LC7L3_HUMAN			5	543	+			118					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Silent	SNP	ENST00000505658.1	37	c.354C>A	CCDS11573.1																																																																																				0.328	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		13	20	1	0	3.27435e-08	1	3.61018e-08	13	20				
CLASP1	23332	broad.mit.edu	37	2	122176233	122176233	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:122176233C>T	ENST00000263710.4	-	23	2674	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q	CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000541377.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	762	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCTTGTATCTCGGCTGCTCTC	0.597																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(2284-2286)cGa>cAa		cytoplasmic linker associated protein 1							77.0	86.0	83.0					2																	122176233		2077	4197	6274	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122176233C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2285G>A	2.37:g.122176233C>T	ENSP00000263710:p.Arg762Gln					CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron	p.R762Q	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			23	2674	-	Renal(3;0.0496)		762			Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.2285G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.332851	0.95758	.	.	ENSG00000074054	ENST00000263710	T	0.21361	2.01	5.88	5.88	0.94601	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.36672	1.1	0.80722	D	1	D	0.59357	0.985	B	0.38106	0.265	T	0.01202	-1.1420	10	0.40728	T	0.16	-12.6346	20.2314	0.98350	0.0:1.0:0.0:0.0	.	762	Q7Z460	CLAP1_HUMAN	Q	762	ENSP00000263710:R762Q	ENSP00000263710:R762Q	R	-	2	0	CLASP1	121892703	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.806000	0.86020	2.789000	0.95967	0.591000	0.81541	CGA		0.597	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		26	54	0	0	0	1	0	26	54				
SORCS3	22986	broad.mit.edu	37	10	106927107	106927107	+	Splice_Site	SNP	G	G	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr10:106927107G>T	ENST00000369701.3	+	13	2128	c.1901G>T	c.(1900-1902)tGg>tTg	p.W634L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	634					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGCATTTGTGGTAAGGAGAG	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.e13+1		sortilin-related VPS10 domain containing receptor 3							118.0	102.0	108.0					10																	106927107		2203	4300	6503	SO:0001630	splice_region_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106927107G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1901+1G>T	10.37:g.106927107G>T							p.W634_splice	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	13	2128	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	634					Q5VXF9|Q9NQJ2	Splice_Site	SNP	ENST00000369701.3	37	c.1901_splice	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106007	0.56291	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.39997	1.05;1.05	5.67	5.67	0.87782	VPS10 (1);	0.123193	0.64402	D	0.000014	T	0.55337	0.1914	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.48186	-0.9057	9	.	.	.	.	19.3449	0.94359	0.0:0.0:1.0:0.0	.	634	Q9UPU3	SORC3_HUMAN	L	634;79	ENSP00000358715:W634L;ENSP00000376876:W79L	.	W	+	2	0	SORCS3	106917097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.512000	0.90538	2.674000	0.91012	0.591000	0.81541	TGG		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	Missense_Mutation	19	25	1	0	9.7654e-05	1	0.000102418	19	25				
SIPA1L2	57568	broad.mit.edu	37	1	232596796	232596796	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:232596796C>T	ENST00000366630.1	-	9	3290	c.2932G>A	c.(2932-2934)Ggc>Agc	p.G978S	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G52S|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G978S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	978	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGGCAAAGCCAAAAGGTTCC	0.572																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2932-2934)Ggc>Agc		signal-induced proliferation-associated 1 like 2							92.0	103.0	99.0					1																	232596796		2188	4292	6480	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232596796C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2932G>A	1.37:g.232596796C>T	ENSP00000355589:p.Gly978Ser					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G978S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G52S	p.G978S			Q9P2F8	SI1L2_HUMAN			9	3290	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	978			PDZ.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2932G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717413	0.96839	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.40756	1.02;1.02;1.02	5.64	5.64	0.86602	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.42686	1.345	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.91635	0.999;0.969	T	0.59043	-0.7528	10	0.62326	D	0.03	-28.391	20.0627	0.97684	0.0:1.0:0.0:0.0	.	978;52	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	S	978;978;52	ENSP00000355589:G978S;ENSP00000262861:G978S;ENSP00000309102:G52S	ENSP00000262861:G978S	G	-	1	0	SIPA1L2	230663419	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.776000	0.85560	2.816000	0.96949	0.563000	0.77884	GGC		0.572	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	70	0	0	0	1	0	5	70				
CCDC80	151887	broad.mit.edu	37	3	112358730	112358730	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:112358730C>T	ENST00000206423.3	-	2	976	c.23G>A	c.(22-24)cGt>cAt	p.R8H	CCDC80_ENST00000439685.2_Missense_Mutation_p.R8H|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	8					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CATAGTGAAACGGGGTCCCAT	0.488																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(22-24)cGt>cAt		coiled-coil domain containing 80							50.0	47.0	48.0					3																	112358730		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358730C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.23G>A	3.37:g.112358730C>T	ENSP00000206423:p.Arg8His					CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R8H	p.R8H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	976	-			8					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.23G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716055	0.15306	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.43294	0.95;0.95	5.35	3.55	0.40652	.	0.578284	0.18998	N	0.125416	T	0.19366	0.0465	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.15235	-1.0444	10	0.36615	T	0.2	-9.0E-4	8.7386	0.34543	0.0:0.7688:0.0:0.2312	.	19;8;8	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	8	ENSP00000206423:R8H;ENSP00000411814:R8H	ENSP00000206423:R8H	R	-	2	0	CCDC80	113841420	0.959000	0.32827	0.049000	0.19019	0.849000	0.48306	1.974000	0.40559	0.809000	0.34255	-0.143000	0.13931	CGT		0.488	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		18	31	0	0	0	1	0	18	31				
GRIA2	2891	broad.mit.edu	37	4	158257586	158257586	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr4:158257586G>A	ENST00000264426.9	+	11	1810	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	GRIA2_ENST00000393815.2_Missense_Mutation_p.D464N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D464N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D464N|GRIA2_ENST00000296526.7_Missense_Mutation_p.D511N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	511					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGAGGTGATTGACTTCTCAAA	0.413																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1531-1533)Gac>Aac		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						163.0	163.0	163.0					4																	158257586		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257586G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1531G>A	4.37:g.158257586G>A	ENSP00000264426:p.Asp511Asn					GRIA2_ENST00000393815.2_Missense_Mutation_p.D464N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D464N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D464N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D511N	p.D511N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	1856	+	all_hematologic(180;0.24)	Renal(120;0.0458)	511					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1531G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822323	0.90873	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.46	5.46	0.80206	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	M	0.77103	2.36	0.80722	D	1	B;D;D	0.76494	0.282;0.999;0.997	B;D;D	0.76071	0.083;0.987;0.98	T	0.70861	-0.4757	10	0.87932	D	0	.	19.6634	0.95882	0.0:0.0:1.0:0.0	.	511;511;464	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	N	464;464;511;511;464	ENSP00000426845:D464N;ENSP00000377403:D464N;ENSP00000296526:D511N;ENSP00000264426:D511N;ENSP00000389837:D464N	ENSP00000264426:D511N	D	+	1	0	GRIA2	158477036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.720000	0.93068	0.655000	0.94253	GAC		0.413	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			64	72	0	0	0	1	0	64	72				
PIK3CD	5293	broad.mit.edu	37	1	9714344	9714344	+	Intron	SNP	G	G	A	rs372172762		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:9714344G>A	ENST00000377346.4	+	1	58				PIK3CD_ENST00000536656.1_Intron|C1orf200_ENST00000377320.3_Missense_Mutation_p.R51C	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCGTTTCTGCGTTTCTGCAGC	0.542																																						ENST00000377320.3																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9						c.(151-153)Cgc>Tgc		chromosome 1 open reading frame 200		G		0,4068		0,0,2034	63.0	67.0	66.0			-3.8	0.0	1		66	1,8357		0,1,4178	no	intron	PIK3CD	NM_005026.3		0,1,6212	AA,AG,GG		0.012,0.0,0.0080			9714344	1,12425	2034	4179	6213	SO:0001627	intron_variant	644997							g.chr1:9714344G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.-138+2484G>A	1.37:g.9714344G>A						PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron	p.R51C						UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)	1	300	-	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.151C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290458	0.10567	0.0	1.2E-4	ENSG00000179840	ENST00000377320	.	.	.	1.91	-3.82	0.04281	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.26643	-1.0097	7	0.87932	D	0	.	0.2775	0.00240	0.3298:0.1988:0.2715:0.1999	.	51	Q5SR53	CA200_HUMAN	C	51	.	ENSP00000366537:R51C	R	-	1	0	C1orf200	9636931	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.390000	0.07332	-1.168000	0.02776	0.561000	0.74099	CGC		0.542	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		15	20	0	0	0	1	0	15	20				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	50	0	0	0	1	0	30	50				
DMBT1	1755	broad.mit.edu	37	10	124350193	124350193	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr10:124350193G>A	ENST00000338354.3	+	18	2226	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.R707Q|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	707					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCAGTCCCGGTCGACGCCC	0.522																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(2119-2121)cGg>cAg		deleted in malignant brain tumors 1							483.0	347.0	391.0					10																	124350193		1971	4096	6067	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124350193G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2120G>A	10.37:g.124350193G>A	ENSP00000342210:p.Arg707Gln					DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.R707Q	p.R707Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			18	2226	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	707					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2120G>A		.	.	.	.	.	.	.	.	.	.	g	0.012	-1.664548	0.00765	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	1.84	-3.68	0.04463	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B;B	0.33494	0.414;0.0;0.0	B;B;B	0.29176	0.099;0.0;0.0	T	0.06789	-1.0807	9	0.13470	T	0.59	.	5.5312	0.16985	0.3224:0.3101:0.3675:0.0	.	707;697;707	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Q	707;707;707;707;707;707;697;707;697	ENSP00000342210:R707Q;ENSP00000343175:R697Q;ENSP00000357905:R707Q;ENSP00000357951:R697Q	ENSP00000342210:R707Q	R	+	2	0	DMBT1	124340183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.512000	0.02258	-3.632000	0.00129	-4.116000	0.00011	CGG		0.522	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		86	128	0	0	0	1	0	86	128				
TKTL2	84076	broad.mit.edu	37	4	164394648	164394648	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr4:164394648G>A	ENST00000280605.3	-	1	399	c.239C>T	c.(238-240)gCt>gTt	p.A80V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	80						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGGATAGGAGCAGCATGTCC	0.532																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(238-240)gCt>gTt		transketolase-like 2							172.0	116.0	135.0					4																	164394648		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394648G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.239C>T	4.37:g.164394648G>A	ENSP00000280605:p.Ala80Val						p.A80V	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	399	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	80					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.239C>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196387	0.38806	.	.	ENSG00000151005	ENST00000280605	T	0.29397	1.57	4.02	3.18	0.36537	Transketolase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.35219	0.0924	M	0.71206	2.165	0.52099	D	0.999944	P	0.44627	0.839	B	0.43331	0.416	T	0.33904	-0.9850	10	0.87932	D	0	-7.0095	10.2805	0.43537	0.0998:0.0:0.9002:0.0	.	80	Q9H0I9	TKTL2_HUMAN	V	80	ENSP00000280605:A80V	ENSP00000280605:A80V	A	-	2	0	TKTL2	164614098	0.997000	0.39634	0.021000	0.16686	0.011000	0.07611	4.224000	0.58593	1.274000	0.44362	-0.424000	0.05967	GCT		0.532	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		12	18	0	0	0	1	0	12	18				
LRRC4C	57689	broad.mit.edu	37	11	40136858	40136858	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:40136858G>A	ENST00000278198.2	-	2	2948	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	329	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R329W(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTTACACCGGGCACAACAA	0.502																																						ENST00000278198.2																			1	Substitution - Missense(1)	p.R329W(1)	lung(1)	NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(985-987)Cgg>Tgg		leucine rich repeat containing 4C							84.0	73.0	76.0					11																	40136858		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136858G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.985C>T	11.37:g.40136858G>A	ENSP00000278198:p.Arg329Trp					LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329W	p.R329W			Q9HCJ2	LRC4C_HUMAN			2	2948	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	329			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.985C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580767	0.46006	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.76	1.56	0.23342	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.84395	0.0557	10	0.66056	D	0.02	.	15.0044	0.71501	0.0:0.0:0.5439:0.456	.	329	Q9HCJ2	LRC4C_HUMAN	W	329	ENSP00000278198:R329W;ENSP00000436976:R329W;ENSP00000437132:R329W;ENSP00000434761:R329W	ENSP00000278198:R329W	R	-	1	2	LRRC4C	40093434	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.745000	0.62125	0.031000	0.15407	0.655000	0.94253	CGG		0.502	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		21	22	0	0	0	1	0	21	22				
KLHL6	89857	broad.mit.edu	37	3	183210395	183210395	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:183210395T>G	ENST00000341319.3	-	6	1486	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	484					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGAGTCTTGTCTGTGGCCAG	0.557																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1450-1452)gAc>gCc		kelch-like family member 6							217.0	171.0	186.0					3																	183210395		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183210395T>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1451A>C	3.37:g.183210395T>G	ENSP00000341342:p.Asp484Ala						p.D484A	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		6	1486	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		484					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1451A>C	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417666	0.83449	.	.	ENSG00000172578	ENST00000341319	T	0.79033	-1.23	4.88	4.88	0.63580	Kelch-type beta propeller (1);	0.136526	0.64402	D	0.000004	T	0.81451	0.4825	L	0.39566	1.225	0.48288	D	0.999621	D	0.57257	0.979	P	0.62298	0.9	T	0.81369	-0.0964	10	0.41790	T	0.15	.	14.7821	0.69774	0.0:0.0:0.0:1.0	.	484	Q8WZ60	KLHL6_HUMAN	A	484	ENSP00000341342:D484A	ENSP00000341342:D484A	D	-	2	0	KLHL6	184693089	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	7.655000	0.83696	1.959000	0.56917	0.482000	0.46254	GAC		0.557	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		23	40	0	0	0	1	0	23	40				
NCAN	1463	broad.mit.edu	37	19	19356150	19356150	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr19:19356150C>T	ENST00000252575.6	+	13	3620	c.3521C>T	c.(3520-3522)cCg>cTg	p.P1174L	NCAN_ENST00000538881.1_Missense_Mutation_p.P625L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GAGAACCAGCCGGACAATTTC	0.572																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3520-3522)cCg>cTg		neurocan							106.0	92.0	96.0					19																	19356150		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356150C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3521C>T	19.37:g.19356150C>T	ENSP00000252575:p.Pro1174Leu					NCAN_ENST00000538881.1_Missense_Mutation_p.P625L	p.P1174L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		13	3564	+			1174			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3521C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756503	0.89843	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.70869	-0.52;-0.52	4.62	4.62	0.57501	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35495	N	0.003177	D	0.90954	0.7156	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94571	0.7771	10	0.87932	D	0	-21.6055	14.9994	0.71459	0.0:1.0:0.0:0.0	.	1174	O14594	NCAN_HUMAN	L	1188;1174;625	ENSP00000252575:P1174L;ENSP00000442202:P625L	ENSP00000252575:P1174L	P	+	2	0	NCAN	19217150	1.000000	0.71417	0.980000	0.43619	0.923000	0.55619	7.475000	0.81041	2.383000	0.81215	0.453000	0.30009	CCG		0.572	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		8	30	0	0	0	1	0	8	30				
CACNA1F	778	broad.mit.edu	37	X	49081347	49081347	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chrX:49081347A>C	ENST00000376265.2	-	14	1847	c.1786T>G	c.(1786-1788)Ttt>Gtt	p.F596V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.F531V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.F585V|CACNA1F_ENST00000480889.1_5'Flank	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	596					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCAGTCAAAGCGGTTGAAG	0.557																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(1786-1788)Ttt>Gtt		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						106.0	60.0	75.0					X																	49081347		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49081347A>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1786T>G	X.37:g.49081347A>C	ENSP00000365441:p.Phe596Val					CACNA1F_ENST00000323022.5_Missense_Mutation_p.F585V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F531V	p.F596V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			14	1847	-			596					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.1786T>G	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.078760	0.36662	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98567	-5.0;-5.0;-5.0	3.4	3.4	0.38934	Ion transport (1);	0.171152	0.52532	D	0.000077	D	0.99208	0.9725	H	0.97340	3.985	0.42178	D	0.991674	D;D	0.62365	0.989;0.991	D;D	0.74023	0.969;0.982	D	0.99016	1.0816	10	0.87932	D	0	.	10.4394	0.44455	1.0:0.0:0.0:0.0	.	585;596	F5CIQ9;O60840	.;CAC1F_HUMAN	V	531;585;596	ENSP00000365427:F531V;ENSP00000321618:F585V;ENSP00000365441:F596V	ENSP00000321618:F585V	F	-	1	0	CACNA1F	48968291	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	9.233000	0.95337	1.059000	0.40554	0.233000	0.17823	TTT		0.557	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		5	1	0	0	0	1	0	5	1				
FZD10	11211	broad.mit.edu	37	12	130648895	130648895	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:130648895G>A	ENST00000229030.4	+	1	1892	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	FZD10_ENST00000539839.1_Missense_Mutation_p.G437E|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	470					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCTCAACATGGATTACTGGAA	0.567																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1309-1311)gGa>gAa		frizzled family receptor 10							95.0	94.0	94.0					12																	130648895		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648895G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1408G>A	12.37:g.130648895G>A	ENSP00000229030:p.Asp470Asn					FZD10_ENST00000229030.4_Missense_Mutation_p.D470N	p.G437E	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1892	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1310G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.595710|1.595710	0.28445|0.28445	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.82255|.	-1.59|.	5.1|5.1	5.1|5.1	0.69264|0.69264	GPCR, family 2-like (1);|.	0.130808|.	0.47852|.	U|.	0.000202|.	T|T	0.74854|0.74854	0.3771|0.3771	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	B|.	0.15141|.	0.012|.	B|.	0.23018|.	0.043|.	T|T	0.77920|0.77920	-0.2407|-0.2407	10|6	0.51188|0.87932	T|D	0.08|0	.|.	18.5027|18.5027	0.90888|0.90888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	470|.	Q9ULW2|.	FZD10_HUMAN|.	N|E	470|437	ENSP00000229030:D470N|.	ENSP00000229030:D470N|ENSP00000438460:G437E	D|G	+|+	1|2	0|0	FZD10|FZD10	129214848|129214848	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.978000|0.978000	0.69477|0.69477	7.655000|7.655000	0.83696|0.83696	2.360000|2.360000	0.80028|0.80028	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.567	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	33	0	0	0	1	0	7	33				
SEPN1	57190	broad.mit.edu	37	1	26139203	26139203	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:26139203C>T	ENST00000374315.1	+	9	1243	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	SEPN1_ENST00000361547.2_Missense_Mutation_p.A436V|RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000354177.4_Missense_Mutation_p.A402V	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	436						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACTGAGGCCTTCGACCGA	0.627																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1306-1308)gCc>gTc		selenoprotein N, 1							42.0	46.0	45.0					1																	26139203		2053	4184	6237	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26139203C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1205C>T	1.37:g.26139203C>T	ENSP00000363434:p.Ala402Val					SEPN1_ENST00000374315.1_Missense_Mutation_p.A402V|SEPN1_ENST00000354177.4_Missense_Mutation_p.A402V	p.A436V	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	10	1362	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	436					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1307C>T	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942475	0.92526	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.92699	-3.09;-3.07;-3.07	5.32	5.32	0.75619	.	0.104988	0.64402	D	0.000004	D	0.95683	0.8596	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.95909	0.8921	10	0.72032	D	0.01	-14.6664	18.9918	0.92796	0.0:1.0:0.0:0.0	.	402;436	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	V	436;402;402	ENSP00000355141:A436V;ENSP00000346109:A402V;ENSP00000363434:A402V	ENSP00000346109:A402V	A	+	2	0	SEPN1	26011790	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.783000	0.85696	2.489000	0.83994	0.462000	0.41574	GCC		0.627	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		8	18	0	0	0	1	0	8	18				
LDHAL6A	160287	broad.mit.edu	37	11	18497099	18497099	+	Missense_Mutation	SNP	C	C	T	rs368803699		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:18497099C>T	ENST00000280706.2	+	4	1302	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R169C|TSG101_ENST00000536719.1_Intron	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	169					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GGACTCTGCTCGTTTTCGTTA	0.453																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(505-507)Cgt>Tgt		lactate dehydrogenase A-like 6A	NADH(DB00157)	C	CYS/ARG,CYS/ARG	1,4397	2.1+/-5.4	0,1,2198	189.0	173.0	178.0		505,505	0.7	0.0	11		178	0,8586		0,0,4293	no	missense,missense	LDHAL6A	NM_001144071.1,NM_144972.4	180,180	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	169/333,169/333	18497099	1,12983	2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497099C>T	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.505C>T	11.37:g.18497099C>T	ENSP00000280706:p.Arg169Cys					TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R169C	p.R169C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN			4	1302	+			169					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.505C>T	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554421	0.65425	2.27E-4	0.0	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.90676	-2.71;-2.71	4.05	0.722	0.18225	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000001	D	0.96734	0.8934	H	0.99948	5.02	0.80722	D	1	D	0.65815	0.995	D	0.64321	0.924	D	0.92895	0.6334	10	0.66056	D	0.02	.	4.758	0.13093	0.1714:0.6183:0.0:0.2103	.	169	Q6ZMR3	LDH6A_HUMAN	C	169	ENSP00000379516:R169C;ENSP00000280706:R169C	ENSP00000280706:R169C	R	+	1	0	LDHAL6A	18453675	0.000000	0.05858	0.026000	0.17262	0.947000	0.59692	-0.014000	0.12656	0.693000	0.31634	0.491000	0.48974	CGT		0.453	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		46	53	0	0	0	1	0	46	53				
TTN	7273	broad.mit.edu	37	2	179417860	179417860	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr2:179417860A>G	ENST00000591111.1	-	285	85068	c.84844T>C	c.(84844-84846)Tct>Cct	p.S28282P	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20983P|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S29923P|TTN_ENST00000460472.2_Missense_Mutation_p.S20858P|TTN_ENST00000342992.6_Missense_Mutation_p.S27355P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21050P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28282	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTTGAAGACTTAGGTTCA	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89767-89769)Tct>Cct		titin							109.0	106.0	107.0					2																	179417860		1902	4122	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417860A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84844T>C	2.37:g.179417860A>G	ENSP00000465570:p.Ser28282Pro					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28282P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27355P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20858P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21050P|TTN_ENST00000359218.5_Missense_Mutation_p.S20983P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.S29923P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	89991	-			28282			Fibronectin type-III 118.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89767T>C		.	.	.	.	.	.	.	.	.	.	A	12.00	1.806323	0.31961	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.39	5.39	0.77823	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80116	0.4564	M	0.92459	3.31	0.44685	D	0.997676	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.52109	0.69;0.69;0.69;0.69	D	0.84916	0.0851	9	0.87932	D	0	.	11.466	0.50239	0.8654:0.0:0.0:0.1346	.	20858;20983;21050;28282	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	27355;20858;21050;20983;20855	ENSP00000343764:S27355P;ENSP00000434586:S20858P;ENSP00000340554:S21050P;ENSP00000352154:S20983P	ENSP00000340554:S21050P	S	-	1	0	TTN	179126106	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.761000	0.68801	2.163000	0.67991	0.533000	0.62120	TCT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	35	0	0	0	1	0	31	35				
OR52L1	338751	broad.mit.edu	37	11	6007227	6007227	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:6007227C>T	ENST00000332249.4	-	1	988	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGTCTTCACTCCATAGACA	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(934-936)Gtg>Atg		olfactory receptor, family 52, subfamily L, member 1							57.0	57.0	57.0					11																	6007227		2057	4217	6274	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007227C>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.934G>A	11.37:g.6007227C>T	ENSP00000330338:p.Val312Met						p.V312M	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	988	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	312					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.934G>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	2.638	-0.284856	0.05605	.	.	ENSG00000183313	ENST00000332249	T	0.38077	1.16	3.57	2.65	0.31530	.	0.000000	0.39475	N	0.001341	T	0.28366	0.0701	L	0.48174	1.505	0.31000	N	0.72048	B	0.18013	0.025	B	0.14578	0.011	T	0.25117	-1.0141	10	0.62326	D	0.03	.	7.0662	0.25154	0.0:0.7822:0.0:0.2178	.	312	Q8NGH7	O52L1_HUMAN	M	312	ENSP00000330338:V312M	ENSP00000330338:V312M	V	-	1	0	OR52L1	5963803	0.000000	0.05858	0.978000	0.43139	0.112000	0.19704	-0.245000	0.08890	0.829000	0.34733	0.313000	0.20887	GTG		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		4	9	0	0	0	1	0	4	9				
EWSR1	2130	broad.mit.edu	37	22	29687577	29687577	+	Missense_Mutation	SNP	A	A	G	rs201549256		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:29687577A>G	ENST00000397938.2	+	9	1320	c.1001A>G	c.(1000-1002)aAt>aGt	p.N334S	EWSR1_ENST00000332035.6_Missense_Mutation_p.N278S|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.N333S|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000414183.2_Missense_Mutation_p.N339S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	334	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGGCTTCAATAAGCCTGGT	0.413			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1000-1002)aAt>aGt		EWS RNA-binding protein 1		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	55.0	50.0	52.0		1016,1001,833,998	5.8	1.0	22		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	EWSR1	NM_013986.3,NM_005243.3,NM_001163286.1,NM_001163285.1	46,46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign,benign	339/662,334/657,278/601,333/656	29687577	1,13005	2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29687577A>G		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1001A>G	22.37:g.29687577A>G	ENSP00000381031:p.Asn334Ser					EWSR1_ENST00000414183.2_Missense_Mutation_p.N339S|EWSR1_ENST00000332035.6_Missense_Mutation_p.N278S|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.N333S	p.N334S	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			9	1320	+			334			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1001A>G	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	1.815	-0.473738	0.04414	0.0	1.16E-4	ENSG00000182944	ENST00000397938;ENST00000406548;ENST00000414183;ENST00000332035	D;D;D;D	0.94723	-3.4;-3.47;-3.5;-3.38	5.78	5.78	0.91487	.	0.053442	0.64402	U	0.000001	D	0.86973	0.6062	N	0.13098	0.295	0.80722	D	1	B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.003	B;B;B;B;B	0.10450	0.003;0.005;0.005;0.005;0.005	T	0.81382	-0.0958	10	0.24483	T	0.36	.	8.4783	0.33027	0.8559:0.0:0.1441:0.0	.	278;333;278;339;334	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	S	334;333;339;278	ENSP00000381031:N334S;ENSP00000385726:N333S;ENSP00000400142:N339S;ENSP00000331699:N278S	ENSP00000331699:N278S	N	+	2	0	EWSR1	28017577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.148000	0.50647	2.220000	0.72140	0.533000	0.62120	AAT		0.413	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		11	15	0	0	0	1	0	11	15				
RFT1	91869	broad.mit.edu	37	3	53157857	53157857	+	Splice_Site	SNP	C	C	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:53157857C>G	ENST00000296292.3	-	3	211		c.e3-1		RFT1_ENST00000394738.3_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)						carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCGTTAGTCTGTAAATGAA	0.493																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.e3-1		RFT1 homolog (S. cerevisiae)							61.0	61.0	61.0					3																	53157857		2203	4300	6503	SO:0001630	splice_region_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53157857C>G	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.150-1G>C	3.37:g.53157857C>G						RFT1_ENST00000394738.3_Intron		NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	3	211	-								Q96J03	Splice_Site	SNP	ENST00000296292.3	37		CCDS2869.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777914	0.70107	.	.	ENSG00000163933	ENST00000296292;ENST00000467048	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFT1	53132897	1.000000	0.71417	0.955000	0.39395	0.605000	0.37080	6.861000	0.75478	2.941000	0.99782	0.655000	0.94253	.		0.493	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859	Intron	14	29	0	0	0	1	0	14	29				
ENPP4	22875	broad.mit.edu	37	6	46111175	46111175	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr6:46111175G>T	ENST00000321037.4	+	4	1390	c.1160G>T	c.(1159-1161)gGg>gTg	p.G387V		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	387					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCCAATAATGGGACCTTTGGT	0.423																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1159-1161)gGg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							168.0	154.0	159.0					6																	46111175		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46111175G>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1160G>T	6.37:g.46111175G>T	ENSP00000318066:p.Gly387Val						p.G387V	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			4	1390	+			387					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.1160G>T	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640781	0.87859	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	D	0.87256	-2.23	5.7	5.7	0.88788	.	0.045920	0.85682	N	0.000000	D	0.96040	0.8710	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96937	0.9685	10	0.87932	D	0	-10.9634	19.8411	0.96685	0.0:0.0:1.0:0.0	.	387	Q9Y6X5	ENPP4_HUMAN	V	387	ENSP00000318066:G387V	ENSP00000318066:G387V	G	+	2	0	ENPP4	46219134	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	9.434000	0.97515	2.683000	0.91414	0.655000	0.94253	GGG		0.423	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			7	95	1	0	1.06961e-07	1	1.14983e-07	7	95				
VN1R2	317701	broad.mit.edu	37	19	53762473	53762473	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr19:53762473G>T	ENST00000341702.3	+	1	929	c.845G>T	c.(844-846)aGc>aTc	p.S282I	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	282					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGGGCCAGCAGCTCCATCGTT	0.483																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(844-846)aGc>aTc		vomeronasal 1 receptor 2							148.0	137.0	141.0					19																	53762473		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762473G>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.845G>T	19.37:g.53762473G>T	ENSP00000351244:p.Ser282Ile					VN1R2_ENST00000598458.1_3'UTR	p.S282I	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	929	+			282					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.845G>T	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	3.934	-0.015612	0.07681	.	.	ENSG00000196131	ENST00000341702	T	0.35236	1.32	2.94	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30823	0.0777	L	0.42008	1.315	0.09310	N	0.999992	P	0.37548	0.599	B	0.37943	0.261	T	0.16041	-1.0416	9	0.56958	D	0.05	.	9.4931	0.38971	0.0:0.0:0.7868:0.2132	.	282	Q8NFZ6	VN1R2_HUMAN	I	282	ENSP00000351244:S282I	ENSP00000351244:S282I	S	+	2	0	VN1R2	58454285	0.006000	0.16342	0.093000	0.20910	0.116000	0.19942	0.146000	0.16180	0.819000	0.34492	0.596000	0.82720	AGC		0.483	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		54	74	1	0	4.25531e-23	1	5.08274e-23	54	74				
GPR6	2830	broad.mit.edu	37	6	110300979	110300979	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr6:110300979C>G	ENST00000275169.3	+	1	682	c.664C>G	c.(664-666)Ctg>Gtg	p.L222V	GPR6_ENST00000414000.2_Missense_Mutation_p.L237V	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	222					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGTGCGCCCGCTGGCGCGCAG	0.697																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(709-711)Ctg>Gtg		G protein-coupled receptor 6							11.0	11.0	11.0					6																	110300979		2190	4245	6435	SO:0001583	missense	0					integral to plasma membrane		g.chr6:110300979C>G		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.664C>G	6.37:g.110300979C>G	ENSP00000275169:p.Leu222Val					GPR6_ENST00000275169.3_Missense_Mutation_p.L222V	p.L237V			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	948	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	222					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.709C>G	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202043	0.58234	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.48201	0.82;0.82	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.36880	0.0983	N	0.25201	0.72	0.54753	D	0.999981	D;P	0.67145	0.996;0.846	P;P	0.61658	0.892;0.557	T	0.26985	-1.0087	10	0.45353	T	0.12	.	9.188	0.37182	0.0:0.8672:0.0:0.1328	.	237;222	B4DHS9;P46095	.;GPR6_HUMAN	V	222;237;222	ENSP00000406986:L237V;ENSP00000275169:L222V	ENSP00000275169:L222V	L	+	1	2	GPR6	110407672	0.509000	0.26163	1.000000	0.80357	0.991000	0.79684	1.021000	0.30040	2.504000	0.84457	0.563000	0.77884	CTG		0.697	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			8	3	0	0	0	1	0	8	3				
BSN	8927	broad.mit.edu	37	3	49700629	49700629	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:49700629C>T	ENST00000296452.4	+	7	11152	c.11038C>T	c.(11038-11040)Cgg>Tgg	p.R3680W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3680					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGAGGCCCGGCCCCACTC	0.667																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(11038-11040)Cgg>Tgg		bassoon presynaptic cytomatrix protein							54.0	56.0	55.0					3																	49700629		2202	4300	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49700629C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11038C>T	3.37:g.49700629C>T	ENSP00000296452:p.Arg3680Trp						p.R3680W	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	7	11152	+			3680					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.11038C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243130	0.22796	.	.	ENSG00000164061	ENST00000296452	T	0.21361	2.01	5.05	4.08	0.47627	.	0.265359	0.28459	N	0.015279	T	0.39835	0.1093	L	0.55481	1.735	0.44946	D	0.997966	D	0.89917	1.0	D	0.64687	0.928	T	0.31558	-0.9939	10	0.72032	D	0.01	-18.4539	15.7962	0.78412	0.1455:0.8545:0.0:0.0	.	3680	Q9UPA5	BSN_HUMAN	W	3680	ENSP00000296452:R3680W	ENSP00000296452:R3680W	R	+	1	2	BSN	49675633	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.626000	0.46460	2.334000	0.79466	0.591000	0.81541	CGG		0.667	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	14	0	0	0	1	0	10	14				
GTPBP1	9567	broad.mit.edu	37	22	39122093	39122093	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr22:39122093C>T	ENST00000216044.5	+	7	1389	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	386	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTCTCCCCCCGCACCAGCTA	0.567																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(1156-1158)Cgc>Tgc		GTP binding protein 1							105.0	107.0	107.0					22																	39122093		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39122093C>T	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1156C>T	22.37:g.39122093C>T	ENSP00000216044:p.Arg386Cys					GTPBP1_ENST00000460605.1_3'UTR	p.R386C	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			7	1389	+	Melanoma(58;0.04)		386					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.1156C>T	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	C	19.83	3.901053	0.72754	.	.	ENSG00000100226	ENST00000216044	T	0.42900	0.96	4.6	4.6	0.57074	.	0.148607	0.64402	D	0.000016	T	0.66886	0.2835	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.74297	-0.3711	10	0.87932	D	0	.	13.4673	0.61263	0.157:0.843:0.0:0.0	.	386	O00178	GTPB1_HUMAN	C	386	ENSP00000216044:R386C	ENSP00000216044:R386C	R	+	1	0	GTPBP1	37452039	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.796000	0.55507	2.394000	0.81467	0.551000	0.68910	CGC		0.567	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		33	49	0	0	0	1	0	33	49				
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	G	rs121913416|rs121913400		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:41266101C>G	ENST00000349496.5	+	3	378	c.98C>G	c.(97-99)tCt>tGt	p.S33C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> F (in PTR, MDB and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> L (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:9065402}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	468	Substitution - Missense(331)|Deletion - In frame(111)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(165)|central_nervous_system(82)|large_intestine(40)|endometrium(37)|stomach(32)|skin(21)|ovary(20)|pituitary(19)|pancreas(12)|lung(7)|biliary_tract(6)|soft_tissue(4)|bone(4)|breast(3)|prostate(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|parathyroid(2)|small_intestine(2)|thyroid(1)|NS(1)|urinary_tract(1)|adrenal_gland(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(97-99)tCt>tGt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92.0	77.0	82.0					3																	41266101		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266101C>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.98C>G	3.37:g.41266101C>G	ENSP00000344456:p.Ser33Cys					CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33C	p.S33C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	378	+			33		Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.98C>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381716	0.82792	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-10.7796	19.9596	0.97236	0.0:1.0:0.0:0.0	.	33	P35222	CTNB1_HUMAN	C	26;33;33;33;33;26;33;33;33	ENSP00000400508:S26C;ENSP00000385604:S33C;ENSP00000412219:S33C;ENSP00000379486:S33C;ENSP00000344456:S33C;ENSP00000411226:S26C;ENSP00000379488:S33C;ENSP00000409302:S33C;ENSP00000401599:S33C	ENSP00000344456:S33C	S	+	2	0	CTNNB1	41241105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT		0.488	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		14	29	0	0	0	1	0	14	29				
PVRL1	5818	broad.mit.edu	37	11	119535462	119535462	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr11:119535462C>A	ENST00000264025.3	-	6	2079	c.1549G>T	c.(1549-1551)Gtg>Ttg	p.V517L	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	517					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGGGGCTACACGTACCACTCC	0.627																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1549-1551)Gtg>Ttg		poliovirus receptor-related 1 (herpesvirus entry mediator C)							32.0	32.0	32.0					11																	119535462		2199	4294	6493	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535462C>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1549G>T	11.37:g.119535462C>A	ENSP00000264025:p.Val517Leu					PVRL1_ENST00000341398.2_Intron	p.V517L	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	2079	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	517					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1549G>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.629889	0.87660	.	.	ENSG00000110400	ENST00000264025	D	0.86956	-2.19	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000001	D	0.89986	0.6874	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	D	0.91456	0.5185	10	0.87932	D	0	.	16.6564	0.85229	0.0:1.0:0.0:0.0	.	517	Q15223	PVRL1_HUMAN	L	517	ENSP00000264025:V517L	ENSP00000264025:V517L	V	-	1	0	PVRL1	119040672	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.326000	0.79133	2.328000	0.79073	0.479000	0.44913	GTG		0.627	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			3	27	1	0	0.115264	1	0.115264	3	27				
LRRIQ4	344657	broad.mit.edu	37	3	169539973	169539973	+	Silent	SNP	G	G	A			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr3:169539973G>A	ENST00000340806.6	+	1	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	88										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGTGCCCGGCGCTGGGGC	0.562																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(262-264)ccG>ccA		leucine-rich repeats and IQ motif containing 4							67.0	73.0	72.0					3																	169539973		1916	4117	6033	SO:0001819	synonymous_variant	344657							g.chr3:169539973G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.264G>A	3.37:g.169539973G>A							p.P88P	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	264	+			88						Silent	SNP	ENST00000340806.6	37	c.264G>A	CCDS46951.1																																																																																				0.562	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		36	55	0	0	0	1	0	36	55				
RPL11	6135	broad.mit.edu	37	1	24021277	24021277	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:24021277A>G	ENST00000374550.3	+	4	437	c.392A>G	c.(391-393)tAt>tGt	p.Y131C	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	131					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGGACTTCTATGTGGTATGA	0.423																																						ENST00000374550.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(391-393)tAt>tGt		ribosomal protein L11							133.0	127.0	129.0					1																	24021277		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24021277A>G	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.392A>G	1.37:g.24021277A>G	ENSP00000363676:p.Tyr131Cys					RPL11_ENST00000482370.1_3'UTR	p.Y131C	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	4	437	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	131					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.392A>G	CCDS238.1	.	.	.	.	.	.	.	.	.	.	a	18.15	3.560486	0.65538	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.77098	-1.07;-1.07;-1.07	5.94	4.81	0.61882	Ribosomal protein L5 domain (2);	0.056165	0.64402	D	0.000001	T	0.78502	0.4293	L	0.55834	1.745	0.80722	D	1	B;B	0.18013	0.009;0.025	B;B	0.38616	0.083;0.277	T	0.73395	-0.3996	10	0.38643	T	0.18	-1.8947	12.6046	0.56516	0.8757:0.0:0.0:0.1243	.	130;131	P62913-2;P62913	.;RL11_HUMAN	C	131;129;129	ENSP00000363676:Y131C;ENSP00000390839:Y129C;ENSP00000398888:Y129C	ENSP00000363676:Y131C	Y	+	2	0	RPL11	23893864	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.037000	0.93765	1.051000	0.40369	0.529000	0.55759	TAT		0.423	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975		5	100	0	0	0	1	0	5	100				
SRRM1	10250	broad.mit.edu	37	1	24976513	24976513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr1:24976513delA	ENST00000323848.9	+	5	772	c.457delA	c.(457-459)aaafs	p.K153fs	SRRM1_ENST00000374389.4_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000537199.1_Frame_Shift_Del_p.K52fs|SRRM1_ENST00000447431.2_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	153	Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGACAAAGATAAAAGAGATAA	0.358																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(457-459)aafs		serine/arginine repetitive matrix 1							68.0	73.0	71.0					1																	24976513		2203	4300	6503	SO:0001589	frameshift_variant	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24976513delA	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.457delA	1.37:g.24976513delA	ENSP00000326261:p.Lys153fs					SRRM1_ENST00000374389.4_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000537199.1_Frame_Shift_Del_p.K52fs	p.K153fs	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	5	772	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	153			Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.		O60585|Q5VVN4	Frame_Shift_Del	DEL	ENST00000323848.9	37	c.457delA	CCDS255.1																																																																																				0.358	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		8	7						8	7	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs397963443|rs59046327	byFrequency	TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505														2879	0.57488	0.6324	0.5231	5008	,	,		14258	0.8194		0.3777	False		,,,				2504	0.4847					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41												1674,1746		681,312,717						1.6	0.3		dbSNP_129	59	2013,5685		627,759,2463	no	coding	OVOS2	XM_002343151.2		1308,1071,3180	A1A1,A1R,RR		26.1496,48.9474,33.1624				3687,7431						0							g.chr12:31270080_31270081insAAA																													12.37:g.31270080_31270081insAAA														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.505	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			8	4						8	4	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061233	38061244	+	In_Frame_Del	DEL	GTTGCCGGAGTC	GTTGCCGGAGTC	-	rs539948672|rs202209403		TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr14:38061233_38061244delGTTGCCGGAGTC	ENST00000250448.2	-	2	806_817	c.745_756delGACTCCGGCAAC	c.(745-756)gactccggcaacdel	p.DSGN249del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.DSGN216del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	249					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCGAACATGTTGCCGGAGTCCGGGTGCAGC	0.679																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(745-756)del		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061233_38061244delGTTGCCGGAGTC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.745_756delGACTCCGGCAAC	14.37:g.38061233_38061244delGTTGCCGGAGTC	ENSP00000250448:p.Asp249_Asn252del					FOXA1_ENST00000540786.1_In_Frame_Del_p.DSGN216del|FOXA1_ENST00000545425.2_5'UTR	p.DSGN249del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	806_817	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		249					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.745_756delGACTCCGGCAAC	CCDS9665.1																																																																																				0.679	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			9	13						9	13	---	---	---	---
BBS2	583	broad.mit.edu	37	16	56531771	56531771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr16:56531771delT	ENST00000245157.5	-	14	2101	c.1681delA	c.(1681-1683)attfs	p.I561fs	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	561					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GCCAAATCAATATCATCAGTA	0.358									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1681-1683)ttfs		Bardet-Biedl syndrome 2							82.0	80.0	80.0					16																	56531771		2198	4300	6498	SO:0001589	frameshift_variant	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56531771delT	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1681delA	16.37:g.56531771delT	ENSP00000245157:p.Ile561fs					BBS2_ENST00000568104.1_Intron	p.I561fs	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			14	2101	-			561					Q96CM0|Q96SN9	Frame_Shift_Del	DEL	ENST00000245157.5	37	c.1681delA	CCDS32451.1																																																																																				0.358	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		22	54						22	54	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-M7-A722-01A-12D-A364-08	TCGA-M7-A722-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381e0605-cb54-4ef9-96da-4b9f3ce37cff	14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798764_7798765insC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs					CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		38	57						38	57	---	---	---	---
