#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLA2G2C	391013	broad.mit.edu	37	1	20501520	20501520	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:20501520G>T	ENST00000429261.2	-	2	219	c.159C>A	c.(157-159)atC>atA	p.I53I	PLA2G2C_ENST00000247992.5_Silent_p.I56I|PLA2G2C_ENST00000495760.2_5'UTR			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	53					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.I56I(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CATCCACGGGGATCCCTTTAT	0.502																																						uc009vpq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)ATC>ATA		phospholipase A2, group IIC precursor							60.0	64.0	62.0					1																	20501520		1974	4162	6136	SO:0001819	synonymous_variant	391013							g.chr1:20501520G>T			1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"""phospholipase A2, group IIC (possible pseudogene)"""			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.159C>A	1.37:g.20501520G>T							p.I56I	NM_001105572	NP_001099042				UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	168	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)						Q7M4M6	Silent	SNP	ENST00000429261.2	37	c.168C>A																																																																																					PASS	0.502	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572		9	33	9	33	---	---	---	---
DEPDC1	55635	broad.mit.edu	37	1	68949739	68949739	+	Silent	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:68949739A>G	ENST00000456315.2	-	7	918	c.804T>C	c.(802-804)taT>taC	p.Y268Y	DEPDC1_ENST00000370966.5_Silent_p.Y268Y|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	268					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.Y268Y(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAAATCCAACATAAGTTGGAT	0.289																																						uc001dem.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(802-804)TAT>TAC		DEP domain containing 1 isoform a							45.0	49.0	48.0					1																	68949739		2201	4291	6492	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68949739A>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.804T>C	1.37:g.68949739A>G						DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.Y268Y	p.Y268Y	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	7	921	-			268					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.804T>C	CCDS44159.1																																																																																				PASS	0.289	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		25	64	25	64	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86952423	86952423	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:86952423G>T	ENST00000234701.3	+	8	1520	c.1169G>T	c.(1168-1170)cGa>cTa	p.R390L	CLCA1_ENST00000394711.1_Missense_Mutation_p.R390L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	390	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.R390L(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGCGGGCTTCGATCGGCATTT	0.438																																						uc001dlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1168-1170)CGA>CTA		chloride channel accessory 1 precursor							94.0	91.0	92.0					1																	86952423		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86952423G>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1169G>T	1.37:g.86952423G>T	ENSP00000234701:p.Arg390Leu					CLCA1_uc001dls.1_Missense_Mutation_p.R329L	p.R390L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	7	1298	+		Lung NSC(277;0.239)	390			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1169G>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398592	0.11696	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.13420	2.59;2.59	5.65	-0.599	0.11645	von Willebrand factor, type A (3);	0.560819	0.17812	N	0.161187	T	0.03520	0.0101	L	0.28694	0.88	0.09310	N	1	B;B	0.18310	0.027;0.012	B;B	0.28232	0.087;0.061	T	0.41556	-0.9502	10	0.42905	T	0.14	-2.8221	10.3236	0.43780	0.4101:0.0:0.5899:0.0	.	390;153	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	L	390;390;103	ENSP00000234701:R390L;ENSP00000378200:R390L	ENSP00000234701:R390L	R	+	2	0	CLCA1	86725011	0.001000	0.12720	0.060000	0.19600	0.004000	0.04260	-0.280000	0.08468	-0.133000	0.11537	-0.727000	0.03589	CGA		PASS	0.438	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		34	75	34	75	---	---	---	---
AP4B1	10717	broad.mit.edu	37	1	114445388	114445388	+	Silent	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:114445388C>A	ENST00000369569.1	-	2	490	c.210G>T	c.(208-210)ctG>ctT	p.L70L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Silent_p.L70L|AP4B1_ENST00000369566.3_Silent_p.L70L|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	70					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.L70L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCACATGTACAGATAAACCA	0.488																																						uc001eeb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(208-210)CTG>CTT		adaptor-related protein complex 4, beta 1							158.0	131.0	140.0					1																	114445388		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114445388C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.210G>T	1.37:g.114445388C>A						AP4B1_uc001eec.2_Intron|AP4B1_uc001eed.2_Silent_p.L70L|AP4B1_uc010owp.1_Intron|AP4B1_uc001eea.1_5'Flank|AP4B1_uc010owq.1_Silent_p.L70L|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank	p.L70L	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	353	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	70					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.210G>T	CCDS865.1																																																																																				PASS	0.488	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		34	61	34	61	---	---	---	---
CD58	965	broad.mit.edu	37	1	117078706	117078706	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:117078706G>C	ENST00000369489.5	-	3	575	c.509C>G	c.(508-510)tCa>tGa	p.S170*	CD58_ENST00000457047.2_Nonsense_Mutation_p.S170*|CD58_ENST00000369487.3_Nonsense_Mutation_p.S170*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	170					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S170*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TATACTGGTTGAGTTACGTTT	0.343																																						uc001egm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(508-510)TCA>TGA		CD58 molecule isoform 1							123.0	116.0	119.0					1																	117078706		2203	4300	6503	SO:0001587	stop_gained	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078706G>C	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.509C>G	1.37:g.117078706G>C	ENSP00000358501:p.Ser170*					CD58_uc001egn.2_RNA|CD58_uc010owy.1_Nonsense_Mutation_p.S170*|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Nonsense_Mutation_p.S170*	p.S170*	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	3	630	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	170			Extracellular (Potential).|Ig-like C2-type.		A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonsense_Mutation	SNP	ENST00000369489.5	37	c.509C>G	CCDS888.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744650	0.49151	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	.	.	.	3.33	1.33	0.21861	.	7.357090	0.00166	N	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	3.6384	0.08158	0.1337:0.0:0.621:0.2453	.	.	.	.	X	170	.	ENSP00000358499:S170X	S	-	2	0	CD58	116880229	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.427000	0.21379	0.355000	0.24131	0.655000	0.94253	TCA		PASS	0.343	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		18	63	18	63	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144880779	144880779	+	Silent	SNP	G	G	A	rs376696017		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:144880779G>A	ENST00000369354.3	-	26	4038	c.3849C>T	c.(3847-3849)agC>agT	p.S1283S	PDE4DIP_ENST00000369356.4_Silent_p.S1283S|PDE4DIP_ENST00000313382.9_Silent_p.S1239S|PDE4DIP_ENST00000369359.4_Silent_p.S1419S|PDE4DIP_ENST00000530740.1_Silent_p.S1419S|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1283					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S1283S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCATTCTCGCTTCGGCCAC	0.572			T	PDGFRB	MPD								.|||	1	0.000199681	0.0	0.0	5008	,	,		35952	0.0		0.0	False		,,,				2504	0.001					uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3847-3849)AGC>AGT		phosphodiesterase 4D interacting protein isoform		G	,,	0,4406		0,0,2203	254.0	218.0	230.0		3717,3849,3849	-5.8	0.9	1		230	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	1239/2241,1283/2363,1283/2347	144880779	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144880779G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3849C>T	1.37:g.144880779G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.S1239S|PDE4DIP_uc001elv.3_Silent_p.S290S	p.S1283S	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	26	4140	-			1283					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3849C>T	CCDS30824.1																																																																																				PASS	0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		24	528	24	528	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285005	152285005	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:152285005C>A	ENST00000368799.1	-	3	2392	c.2357G>T	c.(2356-2358)aGg>aTg	p.R786M	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	786	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R786M(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTCGAGACCTTTCCCCTGA	0.557									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2356-2358)AGG>ATG		filaggrin							322.0	308.0	313.0					1																	152285005		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285005C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2357G>T	1.37:g.152285005C>A	ENSP00000357789:p.Arg786Met					uc001ezv.2_5'Flank	p.R786M	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2393	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		786			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2357G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.580	0.291817	0.10567	.	.	ENSG00000143631	ENST00000368799	T	0.01787	4.64	2.47	1.54	0.23209	.	.	.	.	.	T	0.01092	0.0036	M	0.68317	2.08	0.09310	N	1	D	0.54964	0.969	P	0.46172	0.506	T	0.49341	-0.8950	9	0.34782	T	0.22	.	4.8628	0.13592	0.0:0.8132:0.0:0.1868	.	786	P20930	FILA_HUMAN	M	786	ENSP00000357789:R786M	ENSP00000357789:R786M	R	-	2	0	FLG	150551629	0.000000	0.05858	0.002000	0.10522	0.149000	0.21700	-0.004000	0.12878	0.244000	0.21351	0.479000	0.44913	AGG		PASS	0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		44	457	44	457	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732065	152732065	+	Start_Codon_SNP	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:152732065A>G	ENST00000606109.1	+	1	29	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	KPRP_ENST00000368773.1_Start_Codon_SNP_p.M1V			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	1						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.M1V(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATCAGGACCATGTGTGACCA	0.607																																						uc001fal.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1-3)ATG>GTG		keratinocyte proline-rich protein							42.0	42.0	42.0					1																	152732065		2203	4300	6503	SO:0001582	initiator_codon_variant	448834					cytoplasm		g.chr1:152732065A>G	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1A>G	1.37:g.152732065A>G	ENSP00000475216:p.Met1Val						p.M1V	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	59	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		1						Missense_Mutation	SNP	ENST00000606109.1	37	c.1A>G	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.832899	0.50951	.	.	ENSG00000203786	ENST00000368773	T	0.16457	2.34	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000029	T	0.31827	0.0809	.	.	.	0.58432	D	0.999999	D	0.67145	0.996	D	0.76071	0.987	T	0.10543	-1.0625	9	0.87932	D	0	-11.7999	12.3815	0.55309	1.0:0.0:0.0:0.0	.	1	Q5T749	KPRP_HUMAN	V	1	ENSP00000357762:M1V	ENSP00000357762:M1V	M	+	1	0	KPRP	150998689	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.213000	0.58520	2.253000	0.74438	0.533000	0.62120	ATG		PASS	0.607	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	Missense_Mutation	19	38	19	38	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165322491	165322491	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:165322491C>A	ENST00000342310.3	-	3	467	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	LMX1A_ENST00000367893.4_Missense_Mutation_p.V29L|LMX1A_ENST00000294816.2_Missense_Mutation_p.V29L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	29					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.V29L(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TTGGGGCTCACCGCTCTGCCT	0.627																																						uc001gcy.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(85-87)GTG>TTG		LIM homeobox transcription factor 1, alpha							28.0	28.0	28.0					1																	165322491		2203	4299	6502	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165322491C>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.85G>T	1.37:g.165322491C>A	ENSP00000340226:p.Val29Leu					LMX1A_uc001gcz.1_Missense_Mutation_p.V29L	p.V29L	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			2	306	-	all_hematologic(923;0.248)		29					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.85G>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070983	0.36566	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.86097	-2.07;-2.07;-2.07	5.36	5.36	0.76844	.	0.688426	0.14176	N	0.336348	T	0.62085	0.2399	N	0.08118	0	0.27064	N	0.963485	B	0.02656	0.0	B	0.01281	0.0	T	0.53697	-0.8402	9	0.28530	T	0.3	.	17.6544	0.88174	0.0:1.0:0.0:0.0	.	29	Q8TE12	LMX1A_HUMAN	L	29	ENSP00000340226:V29L;ENSP00000294816:V29L;ENSP00000356868:V29L	ENSP00000294816:V29L	V	-	1	0	LMX1A	163589115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.171000	0.50824	2.500000	0.84329	0.561000	0.74099	GTG		PASS	0.627	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		5	21	5	21	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172520690	172520690	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:172520690C>G	ENST00000263688.3	+	2	320	c.101C>G	c.(100-102)tCa>tGa	p.S34*	SUCO_ENST00000367723.4_Nonsense_Mutation_p.S229*|SUCO_ENST00000610051.1_Nonsense_Mutation_p.S34*|SUCO_ENST00000608151.1_Nonsense_Mutation_p.S230*	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	34					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.S34*(1)|p.S230L(1)|p.S230*(1)|p.S34L(1)									GAGAGTTCTTCAGCTTCAGCG	0.383																																						uc001giq.3																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)	ovary(2)	2						c.(100-102)TCA>TGA		chromosome 1 open reading frame 9 protein							107.0	101.0	103.0					1																	172520690		2203	4300	6503	SO:0001587	stop_gained	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172520690C>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.101C>G	1.37:g.172520690C>G	ENSP00000263688:p.Ser34*					C1orf9_uc010pmm.1_Nonsense_Mutation_p.S34*|C1orf9_uc009wwd.2_Nonsense_Mutation_p.S34*|C1orf9_uc010pmn.1_Nonsense_Mutation_p.S34*|C1orf9_uc010pmo.1_RNA	p.S34*	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	2	417	+		Breast(1374;0.212)	34					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Nonsense_Mutation	SNP	ENST00000263688.3	37	c.101C>G	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	38	6.986012	0.97983	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.712	15.5173	0.75833	0.0:1.0:0.0:0.0	.	.	.	.	X	230;34	.	ENSP00000263688:S34X	S	+	2	0	C1orf9	170787313	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.253000	0.43205	2.723000	0.93209	0.585000	0.79938	TCA		PASS	0.383	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		14	61	14	61	---	---	---	---
MRPS14	63931	broad.mit.edu	37	1	174987657	174987657	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:174987657A>G	ENST00000476371.1	-	2	117	c.101T>C	c.(100-102)aTg>aCg	p.M34T		NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14									p.M34T(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						ATCGCGCCACATTCTCCAGTC	0.438																																						uc001gkk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)ATG>ACG		mitochondrial ribosomal protein S14							153.0	133.0	140.0					1																	174987657		2203	4300	6503	SO:0001583	missense	63931				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr1:174987657A>G	AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.101T>C	1.37:g.174987657A>G	ENSP00000420714:p.Met34Thr					MRPS14_uc009wwr.2_Missense_Mutation_p.M19T	p.M34T	NM_022100	NP_071383	O60783	RT14_HUMAN			2	118	-			34						Missense_Mutation	SNP	ENST00000476371.1	37	c.101T>C	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223416	0.58668	.	.	ENSG00000120333	ENST00000476371	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.88241	2.94	0.80722	D	1	B	0.15473	0.013	B	0.23852	0.049	T	0.73736	-0.3889	9	0.56958	D	0.05	-20.1133	15.9132	0.79488	1.0:0.0:0.0:0.0	.	34	O60783	RT14_HUMAN	T	34	.	ENSP00000420714:M34T	M	-	2	0	MRPS14	173254280	1.000000	0.71417	0.990000	0.47175	0.935000	0.57460	9.066000	0.93949	2.148000	0.66965	0.533000	0.62120	ATG		PASS	0.438	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	NM_022100		20	152	20	152	---	---	---	---
NPL	80896	broad.mit.edu	37	1	182781313	182781313	+	Missense_Mutation	SNP	G	G	C	rs141892236	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:182781313G>C	ENST00000367553.1	+	5	297	c.253G>C	c.(253-255)Gta>Cta	p.V85L	NPL_ENST00000367554.3_Missense_Mutation_p.V66L|NPL_ENST00000258317.2_Missense_Mutation_p.V85L|NPL_ENST00000367555.1_Missense_Mutation_p.V85L|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Missense_Mutation_p.V85L	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	85					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.V85L(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GATAATTCACGTAGGAGCACT	0.478																																						uc009wyb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(253-255)GTA>CTA		N-acetylneuraminate pyruvate lyase							119.0	109.0	112.0					1																	182781313		2203	4300	6503	SO:0001583	missense	80896				carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	g.chr1:182781313G>C	AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.253G>C	1.37:g.182781313G>C	ENSP00000356524:p.Val85Leu					NPL_uc010pnx.1_Missense_Mutation_p.V66L|NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Missense_Mutation_p.V66L|NPL_uc009wyc.2_Missense_Mutation_p.V85L|NPL_uc001gpp.3_Missense_Mutation_p.V85L|NPL_uc001gpq.1_Missense_Mutation_p.V85L	p.V85L	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN			6	393	+			85					B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	ENST00000367553.1	37	c.253G>C	CCDS1350.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683550	0.88639	.	.	ENSG00000135838	ENST00000367555;ENST00000445965;ENST00000367554;ENST00000367551;ENST00000367553;ENST00000367552;ENST00000258317	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	5.17	5.17	0.71159	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	M	0.71206	2.165	0.52501	D	0.999956	D;D;D;D;D	0.89917	0.989;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.934;0.999;0.999;0.976;0.999	D	0.97403	0.9997	10	0.54805	T	0.06	-7.9537	15.4	0.74830	0.0:0.0:1.0:0.0	.	66;85;85;85;66	A6NK93;Q9BXD5-4;Q9BXD5;Q9BXD5-3;Q9BXD5-2	.;.;NPL_HUMAN;.;.	L	85;50;66;66;85;85;85	ENSP00000356526:V85L;ENSP00000356525:V66L;ENSP00000356524:V85L;ENSP00000356523:V85L;ENSP00000258317:V85L	ENSP00000258317:V85L	V	+	1	0	NPL	181047936	1.000000	0.71417	0.951000	0.38953	0.995000	0.86356	7.140000	0.77322	2.403000	0.81681	0.655000	0.94253	GTA		PASS	0.478	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769		26	38	26	38	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276765	186276765	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:186276765G>A	ENST00000445192.2	+	7	1959	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.E597E|PRG4_ENST00000367486.3_Silent_p.E595E|PRG4_ENST00000367485.4_Silent_p.E545E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	638	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E638E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACCCCTGAGAAGCCCGCAC	0.682																																						uc001gru.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1912-1914)GAG>GAA		proteoglycan 4 isoform A							27.0	31.0	29.0					1																	186276765		2198	4291	6489	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276765G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1914G>A	1.37:g.186276765G>A						PRG4_uc001grt.3_Silent_p.E597E|PRG4_uc009wyl.2_Silent_p.E545E|PRG4_uc009wym.2_Silent_p.E504E|PRG4_uc010poo.1_Intron	p.E638E	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1965	+			638			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|37; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1914G>A	CCDS1369.1																																																																																				PASS	0.682	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	24	7	24	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588134	204588134	+	Silent	SNP	G	G	A	rs114324888		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:204588134G>A	ENST00000367175.1	-	1	3199	c.987C>T	c.(985-987)cgC>cgT	p.R329R	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Silent_p.R329R|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367177.3_Silent_p.R329R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	329					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R329R(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGTGGAAGGCGCGGGGGTGGA	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18086	0.0		0.0	False		,,,				2504	0.0					uc001hbe.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)	2						c.(985-987)CGC>CGT		leucine rich repeat neuronal 2 precursor							75.0	59.0	64.0					1																	204588134		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588134G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.987C>T	1.37:g.204588134G>A						MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.R329R|LRRN2_uc009xbf.1_Silent_p.R329R|MDM4_uc001hbc.2_Intron	p.R329R	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	1375	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		329			LRR 11.|Extracellular (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.987C>T	CCDS1448.1																																																																																				PASS	0.607	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		23	25	23	25	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216424244	216424244	+	Splice_Site	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:216424244C>G	ENST00000307340.3	-	12	2554		c.e12+1		USH2A_ENST00000366942.3_Splice_Site|USH2A_ENST00000366943.2_Splice_Site	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.?(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTACACGTACCAATAACGTT	0.398										HNSCC(13;0.011)																												uc001hku.1																			1	Unknown(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.e12+1		usherin isoform B							135.0	125.0	128.0					1																	216424244		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216424244C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2167+1G>C	1.37:g.216424244C>G		HNSCC(13;0.011)				USH2A_uc001hkv.2_Splice_Site_p.G723_splice	p.G723_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	12	2554	-								Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37	c.2167_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574120	0.65765	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8587	0.92264	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214490867	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.130000	0.77235	2.463000	0.83235	0.655000	0.94253	.		PASS	0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	12	19	12	19	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230796514	230796514	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:230796514A>G	ENST00000366669.4	+	3	360	c.245A>G	c.(244-246)gAc>gGc	p.D82G	COG2_ENST00000535166.1_5'UTR|COG2_ENST00000534989.1_Missense_Mutation_p.D23G|COG2_ENST00000366668.3_Missense_Mutation_p.D82G	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	82					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.D82G(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTGGCATGGACAAAGCCCTC	0.413																																						uc001htw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GAC>GGC		component of oligomeric golgi complex 2 isoform							241.0	190.0	207.0					1																	230796514		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230796514A>G	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.245A>G	1.37:g.230796514A>G	ENSP00000355629:p.Asp82Gly					COG2_uc001htx.2_Missense_Mutation_p.D82G|COG2_uc010pwc.1_5'UTR	p.D82G	NM_007357	NP_031383	Q14746	COG2_HUMAN			3	396	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	82					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.245A>G	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	A	33	5.269869	0.95429	.	.	ENSG00000135775	ENST00000366669;ENST00000366668;ENST00000534989	T;T;T	0.26518	1.76;1.76;1.73	5.96	5.96	0.96718	Conserved oligomeric Golgi complex, subunit 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	M	0.64676	1.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.33727	-0.9857	10	0.33940	T	0.23	-28.7177	16.4484	0.83959	1.0:0.0:0.0:0.0	.	82;82	Q86U99;Q14746	.;COG2_HUMAN	G	82;82;23	ENSP00000355629:D82G;ENSP00000355628:D82G;ENSP00000440349:D23G	ENSP00000355628:D82G	D	+	2	0	COG2	228863137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.007000	0.93597	2.285000	0.76669	0.533000	0.62120	GAC		PASS	0.413	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		100	146	100	146	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240341284	240341284	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:240341284G>T	ENST00000319653.9	+	3	2076	c.1846G>T	c.(1846-1848)Ggg>Tgg	p.G616W	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	616					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G759W(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTATTCAGAAGGGCAGTTTCC	0.438																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1846-1848)GGG>TGG		formin 2							104.0	100.0	101.0					1																	240341284		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240341284G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1846G>T	1.37:g.240341284G>T	ENSP00000318884:p.Gly616Trp					FMN2_uc010pye.1_Missense_Mutation_p.G616W	p.G616W	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2071	+	Ovarian(103;0.127)	all_cancers(173;0.013)	616					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1846G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	9.950	1.219788	0.22373	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80123	-1.34;-1.34	5.37	5.37	0.77165	.	0.168186	0.40469	N	0.001082	D	0.89146	0.6632	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.89563	0.3808	10	0.87932	D	0	.	19.2974	0.94128	0.0:0.0:1.0:0.0	.	616	Q9NZ56	FMN2_HUMAN	W	49;616	ENSP00000409308:G49W;ENSP00000318884:G616W	ENSP00000318884:G616W	G	+	1	0	FMN2	238407907	1.000000	0.71417	0.995000	0.50966	0.217000	0.24651	4.975000	0.63777	2.802000	0.96397	0.650000	0.86243	GGG		PASS	0.438	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		45	66	45	66	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371038	240371038	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr1:240371038C>A	ENST00000319653.9	+	5	3156	c.2926C>A	c.(2926-2928)Cct>Act	p.P976T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	976	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1119T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCAGGAATACCTCCTCCACC	0.711																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2926-2928)CCT>ACT		formin 2							22.0	23.0	23.0					1																	240371038		2200	4295	6495	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371038C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2926C>A	1.37:g.240371038C>A	ENSP00000318884:p.Pro976Thr					FMN2_uc010pye.1_Missense_Mutation_p.P980T	p.P976T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3151	+	Ovarian(103;0.127)	all_cancers(173;0.013)	976			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2926C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406851	0.25378	.	.	ENSG00000155816	ENST00000319653	T	0.65364	-0.15	3.82	2.9	0.33743	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.78266	0.4256	M	0.90369	3.11	0.80722	D	1	D	0.60575	0.988	P	0.59761	0.863	T	0.81872	-0.0733	8	.	.	.	.	11.723	0.51693	0.0:0.9118:0.0:0.0882	.	976	Q9NZ56	FMN2_HUMAN	T	976	ENSP00000318884:P976T	.	P	+	1	0	FMN2	238437661	0.005000	0.15991	0.031000	0.17742	0.034000	0.12701	1.788000	0.38714	0.983000	0.38602	0.472000	0.43445	CCT		PASS	0.711	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		11	18	11	18	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1664699	1664700	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:1664699_1664700CC>AA	ENST00000252804.4	-	14	1840_1841	c.1790_1791GG>TT	c.(1789-1791)cGG>cTT	p.R597L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	597	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R597L(2)|p.R597R(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAATGGTGTTCCGGGCCACACA	0.535																																						uc002qxa.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	pancreas(6)|ovary(2)	8						c.(1789-1791)CGG>CGT|c.(1789-1791)CGG>CTG		peroxidasin precursor																																				SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1664699C>A|g.chr2:1664700C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1790_1791delinsAA	2.37:g.1664699_1664700delinsAA	ENSP00000252804:p.Arg597Leu					PXDN_uc002qxb.1_Silent_p.R597R|PXDN_uc002qxb.1_Missense_Mutation_p.R597L	p.R597R|p.R597L	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	14	1855|1854	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	597			Ig-like C2-type 4.		A8QM65|D6W4Y0|Q4KMG2	Silent|Missense_Mutation	SNP	ENST00000252804.4	37	c.1791G>T|c.1790G>T	CCDS46221.1																																																																																				PASS	0.535	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		22	60|61	22	60	---	---	---	---
ZNF512	84450	broad.mit.edu	37	2	27806571	27806571	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:27806571T>C	ENST00000355467.4	+	2	160	c.77T>C	c.(76-78)gTg>gCg	p.V26A	ZNF512_ENST00000379717.1_Missense_Mutation_p.V26A|ZNF512_ENST00000416005.2_Missense_Mutation_p.V26A|ZNF512_ENST00000556601.1_Intron|ZNF512_ENST00000413371.2_5'UTR|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_Intron	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V26A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					ACGAGGATCGTGGGAGCTAAG	0.483																																						uc002rla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)GTG>GCG		zinc finger protein 512							184.0	174.0	178.0					2																	27806571		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27806571T>C	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.77T>C	2.37:g.27806571T>C	ENSP00000347648:p.Val26Ala					ZNF512_uc010ylv.1_5'UTR|ZNF512_uc010ylw.1_Missense_Mutation_p.V26A|ZNF512_uc002rlb.2_Intron|ZNF512_uc010ylx.1_5'UTR|ZNF512_uc002rlc.2_Intron|ZNF512_uc010yly.1_Intron|ZNF512_uc010ylz.1_5'UTR	p.V26A	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			2	164	+	Acute lymphoblastic leukemia(172;0.155)		26					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.77T>C	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898523	0.52227	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005	.	.	.	5.62	4.45	0.53987	.	0.119630	0.36740	N	0.002430	T	0.40094	0.1103	L	0.36672	1.1	0.80722	D	1	P;P	0.42735	0.788;0.788	B;B	0.37451	0.25;0.25	T	0.28235	-1.0050	9	0.54805	T	0.06	-6.0134	9.6959	0.40156	0.0:0.0:0.1749:0.8251	.	26;26	B4DSM5;Q96ME7	.;ZN512_HUMAN	A	26	.	ENSP00000347648:V26A	V	+	2	0	ZNF512	27660075	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.612000	0.54142	0.932000	0.37266	0.379000	0.24179	GTG		PASS	0.483	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		16	57	16	57	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	33036187	33036187	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:33036187G>T	ENST00000317907.4	+	17	2326	c.2095G>T	c.(2095-2097)Ggc>Tgc	p.G699C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	699								p.G699C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGAGTTATTTGGCAGAGTGAC	0.438																																						uc002rom.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2095-2097)GGC>TGC		tetratricopeptide repeat domain 27							117.0	114.0	115.0					2																	33036187		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33036187G>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2095G>T	2.37:g.33036187G>T	ENSP00000313953:p.Gly699Cys					TTC27_uc010ymx.1_Missense_Mutation_p.G649C|TTC27_uc002ron.2_RNA	p.G699C	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			17	2326	+			699			HAT 3.		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.2095G>T	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509810	0.85282	.	.	ENSG00000018699	ENST00000317907	T	0.38401	1.14	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61178	-0.7115	10	0.33940	T	0.23	-13.1093	18.9912	0.92793	0.0:0.0:1.0:0.0	.	699	Q6P3X3	TTC27_HUMAN	C	699	ENSP00000313953:G699C	ENSP00000313953:G699C	G	+	1	0	TTC27	32889691	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.753000	0.85153	2.708000	0.92522	0.650000	0.86243	GGC		PASS	0.438	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		26	69	26	69	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65299172	65299172	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:65299172G>T	ENST00000377990.2	+	3	1145	c.942G>T	c.(940-942)caG>caT	p.Q314H	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q314H|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q314H	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	314					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q314H(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCGGGCCTCAGCTCCCAAAGC	0.577																																						uc002sdl.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(940-942)CAG>CAT		centrosomal protein 68kDa							77.0	88.0	84.0					2																	65299172		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65299172G>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.942G>T	2.37:g.65299172G>T	ENSP00000367229:p.Gln314His					CEP68_uc002sdj.2_Missense_Mutation_p.Q314H|CEP68_uc010yqb.1_Missense_Mutation_p.Q314H|CEP68_uc002sdk.3_Missense_Mutation_p.Q314H|CEP68_uc010yqc.1_Missense_Mutation_p.Q314H|CEP68_uc010yqd.1_Missense_Mutation_p.Q314H	p.Q314H	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			3	1156	+			314					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.942G>T	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316433	0.60524	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.15952	2.39;2.38;2.38	5.41	0.207	0.15214	.	0.958177	0.08732	N	0.901885	T	0.26085	0.0636	L	0.60455	1.87	0.41062	D	0.985389	B;B;P;D;B	0.65815	0.023;0.023;0.911;0.995;0.023	B;B;P;P;B	0.58172	0.015;0.015;0.562;0.834;0.015	T	0.36720	-0.9736	10	0.51188	T	0.08	-0.2359	1.9256	0.03316	0.232:0.1345:0.4944:0.1391	.	302;314;314;314;314	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	H	314;314;314;302	ENSP00000367229:Q314H;ENSP00000438306:Q314H;ENSP00000260569:Q314H	ENSP00000260569:Q314H	Q	+	3	2	CEP68	65152676	0.000000	0.05858	0.365000	0.25901	0.859000	0.49053	-0.210000	0.09345	-0.262000	0.09392	0.484000	0.47621	CAG		PASS	0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		47	214	47	214	---	---	---	---
IGKV1D-13	28902	broad.mit.edu	37	2	90193294	90193295	+	RNA	DNP	CC	CC	AG			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:90193294_90193295CC>AG	ENST00000390275.2	+	0	401_402									immunoglobulin kappa variable 1D-13																		TATGATGCCTCCAGTTTGGAAA	0.52																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.																																						0							g.chr2:90193294C>A|g.chr2:90193295C>G	X17262		2p11.2	2014-05-06			ENSG00000211630	ENSG00000276566		"""Immunoglobulins / IGK locus"""	5747	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188271	Exception_encountered	2.37:g.90193294_90193295delinsAG														22		+									RNA	SNP	ENST00000390275.2	37	c.2884C>A|c.2885C>G																																																																																					PASS	0.520	IGKV1D-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323146.2	NG_000833		6	102|100	6	100	---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113069435	113069435	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:113069435A>G	ENST00000409871.1	+	5	1069	c.668A>G	c.(667-669)aAg>aGg	p.K223R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K223R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	223							metal ion binding (GO:0046872)	p.K223R(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGCTTGCCGAAGAAAATCAAA	0.343																																						uc002thq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(667-669)AAG>AGG		zinc finger CCCH-type domain containing 6							72.0	74.0	74.0					2																	113069435		1833	4082	5915	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113069435A>G	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.668A>G	2.37:g.113069435A>G	ENSP00000386764:p.Lys223Arg						p.K223R	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			5	1062	+			223					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.668A>G	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375842	0.42105	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.16196	2.36;2.36	4.98	2.53	0.30540	.	0.340013	0.32343	N	0.006221	T	0.19046	0.0457	M	0.76328	2.33	0.42989	D	0.99448	B	0.20261	0.043	B	0.17979	0.02	T	0.03364	-1.1044	10	0.34782	T	0.22	-9.8117	8.513	0.33229	0.8352:0.0:0.1648:0.0	.	223	P61129	ZC3H6_HUMAN	R	223;223;200	ENSP00000386764:K223R;ENSP00000340298:K223R	ENSP00000340298:K223R	K	+	2	0	ZC3H6	112785906	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.309000	0.59135	0.313000	0.23062	0.379000	0.24179	AAG		PASS	0.343	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		6	32	6	32	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166164370	166164370	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:166164370G>T	ENST00000375437.2	+	4	689	c.399G>T	c.(397-399)atG>atT	p.M133I	SCN2A_ENST00000375427.2_Missense_Mutation_p.M133I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M133I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M133I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	133					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M133I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TATTCAATATGCTCATTATGT	0.338																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(397-399)ATG>ATT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						173.0	175.0	174.0					2																	166164370		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166164370G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.399G>T	2.37:g.166164370G>T	ENSP00000364586:p.Met133Ile					SCN2A_uc002udd.2_Missense_Mutation_p.M133I|SCN2A_uc002ude.2_Missense_Mutation_p.M133I	p.M133I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			4	689	+			133			I.|Helical; Name=S1 of repeat I; (Potential).		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.399G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701720	0.68501	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28	5.44	5.44	0.79542	.	0.382475	0.24330	N	0.039463	D	0.98520	0.9506	M	0.84082	2.675	0.35260	D	0.779512	D;D	0.56521	0.976;0.959	D;D	0.73380	0.98;0.956	D	0.99971	1.2010	10	0.54805	T	0.06	.	19.6212	0.95656	0.0:0.0:1.0:0.0	.	133;133	Q99250-2;Q99250	.;SCN2A_HUMAN	I	133	ENSP00000406454:M133I;ENSP00000364586:M133I;ENSP00000349973:M133I;ENSP00000283256:M133I;ENSP00000364576:M133I	ENSP00000283256:M133I	M	+	3	0	SCN2A	165872616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.871000	0.56077	2.723000	0.93209	0.655000	0.94253	ATG		PASS	0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		46	246	46	246	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102139	168102139	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:168102139A>G	ENST00000409195.1	+	9	4326	c.4237A>G	c.(4237-4239)Ata>Gta	p.I1413V	XIRP2_ENST00000409273.1_Missense_Mutation_p.I1191V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1413V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1238					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.I1413V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATTGACCATATACAAGGTGG	0.333																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(4237-4239)ATA>GTA		xin actin-binding repeat containing 2 isoform 1							60.0	54.0	56.0					2																	168102139		1832	4090	5922	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102139A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4237A>G	2.37:g.168102139A>G	ENSP00000386840:p.Ile1413Val					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I1238V|XIRP2_uc010fpq.2_Missense_Mutation_p.I1191V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.I1413V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4255	+			1238					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4237A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	1.859	-0.463004	0.04476	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02498	4.27;4.27;4.28	5.67	3.35	0.38373	.	0.112693	0.64402	D	0.000013	T	0.01905	0.0060	L	0.28608	0.87	0.42940	D	0.994344	B;B;P	0.36683	0.103;0.165;0.565	B;B;B	0.29785	0.031;0.069;0.107	T	0.60291	-0.7292	10	0.23302	T	0.38	-17.1364	5.803	0.18424	0.7266:0.0:0.2734:0.0	.	1238;1238;1191	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1413;1413;1191	ENSP00000386840:I1413V;ENSP00000295237:I1413V;ENSP00000387255:I1191V	ENSP00000295237:I1413V	I	+	1	0	XIRP2	167810385	0.995000	0.38212	0.919000	0.36401	0.165000	0.22458	2.876000	0.48498	2.159000	0.67721	0.460000	0.39030	ATA		PASS	0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		22	84	22	84	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169780261	169780261	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:169780261G>A	ENST00000263817.6	-	28	3961	c.3837C>T	c.(3835-3837)acC>acT	p.T1279T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1279	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.T1279T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CGTTCTGGATGGTGGACAAGC	0.512																																						uc002ueo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(3835-3837)ACC>ACT		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						142.0	142.0	142.0					2																	169780261		2130	4270	6400	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169780261G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3837C>T	2.37:g.169780261G>A						ABCB11_uc010zda.1_Silent_p.T697T|ABCB11_uc010zdb.1_Silent_p.T755T	p.T1279T	NM_003742	NP_003733	O95342	ABCBB_HUMAN			28	3963	-			1279			Cytoplasmic (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.3837C>T	CCDS46444.1																																																																																				PASS	0.512	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		26	109	26	109	---	---	---	---
CHRNA1	1134	broad.mit.edu	37	2	175618376	175618376	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:175618376G>A	ENST00000261007.5	-	7	774	c.708C>T	c.(706-708)tcC>tcT	p.S236S	CHRNA1_ENST00000409323.1_Silent_p.S211S|CHRNA1_ENST00000409219.1_Silent_p.S211S|CHRNA1_ENST00000348749.5_Silent_p.S211S|CHRNA1_ENST00000409542.1_Silent_p.S129S|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	236					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.S236S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CGGGGCAGCAGGAATAGGTCA	0.592																																						uc002ujd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(706-708)TCC>TCT		nicotinic cholinergic receptor alpha 1 isoform a							144.0	137.0	140.0					2																	175618376		2203	4300	6503	SO:0001819	synonymous_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618376G>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.708C>T	2.37:g.175618376G>A						uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.S211S|CHRNA1_uc002ujf.3_Silent_p.S211S	p.S236S	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			7	786	-			236			Extracellular.		B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	c.708C>T	CCDS33331.1																																																																																				PASS	0.592	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			34	91	34	91	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:178098944C>T	ENST00000397062.3	-	2	655	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		12	Substitution - Missense(12)		lung(12)	central_nervous_system(1)	1						c.(100-102)CGA>CAA		nuclear factor erythroid 2-like 2 isoform 1							77.0	70.0	72.0					2																	178098944		1847	4100	5947	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098944C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.101G>A	2.37:g.178098944C>T	ENSP00000380252:p.Arg34Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q	p.R34Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	656	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.101G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869837	0.91587	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.992;0.997;0.998	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	18;34;18;18;18;18;18	ENSP00000380253:R18Q;ENSP00000380252:R34Q;ENSP00000411575:R18Q;ENSP00000391590:R18Q;ENSP00000400073:R18Q;ENSP00000412191:R18Q;ENSP00000410015:R18Q	ENSP00000380252:R34Q	R	-	2	0	NFE2L2	177807190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGA		PASS	0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		40	55	40	55	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179454485	179454485	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:179454485G>A	ENST00000591111.1	-	254	57268	c.57044C>T	c.(57043-57045)aCa>aTa	p.T19015I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T11716I|TTN_ENST00000460472.2_Missense_Mutation_p.T11591I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11783I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T20656I|TTN_ENST00000342992.6_Missense_Mutation_p.T18088I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19015	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.T11591I(1)|p.T18086I(1)|p.T11783I(1)|p.T11716I(1)|p.T18088I(1)		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)			GGGAGTTTTTGTTTCGATGGT	0.403																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(54262-54264)ACA>ATA		titin isoform N2-A							224.0	215.0	218.0					2																	179454485		1898	4104	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454485G>A	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.57044C>T	2.37:g.179454485G>A	ENSP00000465570:p.Thr19015Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T11783I|TTN_uc010zfi.1_Missense_Mutation_p.T11716I|TTN_uc010zfj.1_Missense_Mutation_p.T11591I	p.T18088I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	54487	-			19015					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.54263C>T		.	.	.	.	.	.	.	.	.	.	G	12.99	2.104218	0.37145	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.1	6.1	0.99115	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67748	0.2926	L	0.52905	1.665	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.66650	-0.5870	9	0.87932	D	0	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	11591;11716;11783;19015	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	18088;11591;11783;11716;11589	ENSP00000343764:T18088I;ENSP00000434586:T11591I;ENSP00000340554:T11783I;ENSP00000352154:T11716I	ENSP00000340554:T11783I	T	-	2	0	TTN	179162731	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.615000	0.74201	2.902000	0.99343	0.650000	0.86243	ACA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	244	61	244	---	---	---	---
FRZB	2487	broad.mit.edu	37	2	183730876	183730876	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:183730876G>A	ENST00000295113.4	-	1	1014	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	135	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A135A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GCTCCTCGCAGGCCAGGTTCT	0.637																																						uc002upa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(403-405)GCC>GCT		frizzled-related protein precursor							35.0	33.0	34.0					2																	183730876		2203	4300	6503	SO:0001819	synonymous_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183730876G>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.405C>T	2.37:g.183730876G>A							p.A135A	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		1	623	-			135			FZ.		O00181|Q99686	Silent	SNP	ENST00000295113.4	37	c.405C>T	CCDS2286.1																																																																																				PASS	0.637	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		7	17	7	17	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207452057	207452057	+	Silent	SNP	A	A	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:207452057A>T	ENST00000264377.3	+	19	2074	c.1746A>T	c.(1744-1746)ccA>ccT	p.P582P	ADAM23_ENST00000374416.1_Silent_p.P582P|ADAM23_ENST00000374415.3_Silent_p.P582P	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	582	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P582P(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGTGCCCACCAAATCTTCATA	0.313																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(1744-1746)CCA>CCT		ADAM metallopeptidase domain 23 preproprotein							66.0	69.0	68.0					2																	207452057		2203	4298	6501	SO:0001819	synonymous_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207452057A>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1746A>T	2.37:g.207452057A>T						ADAM23_uc010ziv.1_RNA	p.P582P	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	19	1969	+			582			Disintegrin.|Extracellular (Potential).		A2RU59	Silent	SNP	ENST00000264377.3	37	c.1746A>T	CCDS2369.1																																																																																				PASS	0.313	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		29	102	29	102	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218713180	218713180	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:218713180T>A	ENST00000171887.4	-	17	2137	c.1685A>T	c.(1684-1686)gAg>gTg	p.E562V	TNS1_ENST00000419504.1_Missense_Mutation_p.E562V|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.E562V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	562					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.E562V(1)|p.E687V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCTGGCAGACTCGTAGGGGTA	0.662																																						uc002vgt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(1684-1686)GAG>GTG		tensin							32.0	38.0	36.0					2																	218713180		2203	4299	6502	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713180T>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1685A>T	2.37:g.218713180T>A	ENSP00000171887:p.Glu562Val					TNS1_uc002vgr.2_Missense_Mutation_p.E562V|TNS1_uc002vgs.2_Missense_Mutation_p.E562V|TNS1_uc010zjv.1_Missense_Mutation_p.E562V|TNS1_uc010fvj.1_Missense_Mutation_p.E630V|TNS1_uc010fvk.1_Missense_Mutation_p.E687V|TNS1_uc010fvi.1_Missense_Mutation_p.E249V	p.E562V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2083	-		Renal(207;0.0483)|Lung NSC(271;0.213)	562					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1685A>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759595	0.31137	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.94966	-2.97;-2.97;-2.98;-3.57	4.79	4.79	0.61399	.	0.344478	0.25820	N	0.028092	D	0.94301	0.8169	L	0.36672	1.1	0.80722	D	1	D;P;B;P;P	0.76494	0.999;0.605;0.323;0.651;0.454	D;B;B;B;B	0.64144	0.922;0.225;0.079;0.15;0.15	D	0.93548	0.6884	10	0.45353	T	0.12	.	10.6263	0.45510	0.0:0.0781:0.0:0.9219	.	562;616;562;562;562	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	562;562;562;687	ENSP00000171887:E562V;ENSP00000408724:E562V;ENSP00000406016:E562V;ENSP00000405460:E687V	ENSP00000171887:E562V	E	-	2	0	TNS1	218421425	0.870000	0.30015	0.840000	0.33206	0.258000	0.26162	2.999000	0.49473	2.013000	0.59113	0.459000	0.35465	GAG		PASS	0.662	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		10	36	10	36	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225376242	225376242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr2:225376242C>A	ENST00000264414.4	-	6	1050	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	CUL3_ENST00000409096.1_Nonsense_Mutation_p.E214*|CUL3_ENST00000432260.2_5'Flank|CUL3_ENST00000344951.4_Nonsense_Mutation_p.E172*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.E214*	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	238					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.E238*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATTCTAGCTTCTACTTTCTTT	0.308																																						uc002vny.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(712-714)GAA>TAA		cullin 3							141.0	140.0	140.0					2																	225376242		2203	4299	6502	SO:0001587	stop_gained	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225376242C>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.712G>T	2.37:g.225376242C>A	ENSP00000264414:p.Glu238*					CUL3_uc010zls.1_Nonsense_Mutation_p.E172*|CUL3_uc010fwy.1_Nonsense_Mutation_p.E244*	p.E238*	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1096	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	238					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	37	c.712G>T	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	40	8.429186	0.98808	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0627	0.97684	0.0:1.0:0.0:0.0	.	.	.	.	X	238;172;214;214	.	ENSP00000264414:E238X	E	-	1	0	CUL3	225084486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.807000	0.96579	0.591000	0.81541	GAA		PASS	0.308	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			29	110	29	110	---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11468389	11468389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:11468389C>T	ENST00000354449.3	+	18	2093	c.2068C>T	c.(2068-2070)Caa>Taa	p.Q690*	ATG7_ENST00000354956.5_Nonsense_Mutation_p.Q663*|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	690					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.Q690*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCAAGAAACCCAAGCTGCTGA	0.368																																						uc003bwc.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(2068-2070)CAA>TAA		APG7 autophagy 7-like isoform a							107.0	98.0	101.0					3																	11468389		2203	4300	6503	SO:0001587	stop_gained	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11468389C>T	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2068C>T	3.37:g.11468389C>T	ENSP00000346437:p.Gln690*					ATG7_uc003bwd.2_Nonsense_Mutation_p.Q663*|ATG7_uc011aum.1_Intron	p.Q690*	NM_006395	NP_006386	O95352	ATG7_HUMAN			18	2185	+			690					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Nonsense_Mutation	SNP	ENST00000354449.3	37	c.2068C>T	CCDS2605.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.820357|7.820357	0.98507|0.98507	.|.	.|.	ENSG00000197548|ENSG00000197548	ENST00000446110|ENST00000354956;ENST00000354449;ENST00000414717	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.70771|.	0.3262|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62647|.	-0.6810|.	4|.	.|0.22109	.|T	.|0.4	-11.9864|-11.9864	20.1392|20.1392	0.98050|0.98050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	90|663;690;91	.|.	.|ENSP00000346437:Q690X	P|Q	+|+	2|1	0|0	ATG7|ATG7	11443389|11443389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	7.493000|7.493000	0.81493|0.81493	2.765000|2.765000	0.95021|0.95021	0.557000|0.557000	0.71058|0.71058	CCA|CAA		PASS	0.368	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		10	69	10	69	---	---	---	---
CCDC174	51244	broad.mit.edu	37	3	14706570	14706570	+	Missense_Mutation	SNP	G	G	A	rs138052160		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:14706570G>A	ENST00000383794.3	+	6	594	c.521G>A	c.(520-522)cGc>cAc	p.R174H	CCDC174_ENST00000303688.7_Missense_Mutation_p.R174H	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	174						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R174H(1)									CGTTCCCGGCGCTGTATGAGA	0.473																																						uc003byw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)CGC>CAC		hypothetical protein LOC51244		G	HIS/ARG	0,4406		0,0,2203	160.0	156.0	158.0		521	5.1	1.0	3	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf19	NM_016474.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	174/468	14706570	1,13005	2203	4300	6503	SO:0001583	missense	51244							g.chr3:14706570G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.521G>A	3.37:g.14706570G>A	ENSP00000373304:p.Arg174His					C3orf19_uc010hei.1_Missense_Mutation_p.R174H|C3orf19_uc010hej.2_Missense_Mutation_p.R79H	p.R174H	NM_016474	NP_057558	Q6PII3	CC019_HUMAN			6	612	+			174					Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.521G>A	CCDS2620.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.335521|4.335521	0.81801|0.81801	0.0|0.0	1.16E-4|1.16E-4	ENSG00000154781|ENSG00000154781	ENST00000285042|ENST00000383794;ENST00000303688	.|T;T	.|0.52526	.|0.66;0.82	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.70298	.|0.3208	M|M	0.81341|0.81341	2.54|2.54	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	.|T	.|0.71988	.|-0.4426	.|10	.|0.42905	.|T	.|0.14	.|-5.8486	17.2927|17.2927	0.87162|0.87162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|174	.|Q6PII3	.|CC019_HUMAN	.|H	-1|174	.|ENSP00000373304:R174H;ENSP00000302344:R174H	.|ENSP00000302344:R174H	.|R	+|+	.|2	.|0	C3orf19|C3orf19	14681574|14681574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.003000|9.003000	0.93577|0.93577	2.374000|2.374000	0.81015|0.81015	0.591000|0.591000	0.81541|0.81541	.|CGC		PASS	0.473	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		26	168	26	168	---	---	---	---
LYZL4	131375	broad.mit.edu	37	3	42445550	42445550	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:42445550C>A	ENST00000287748.3	-	4	634	c.359G>T	c.(358-360)gGg>gTg	p.G120V	LYZL4_ENST00000441172.1_Missense_Mutation_p.G120V|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	120					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)	p.G120V(1)		central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCTCCCATCCCTTCTTTTCC	0.383																																						uc003cle.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(358-360)GGG>GTG		lysozyme-like 4 precursor							240.0	204.0	216.0					3																	42445550		2203	4300	6503	SO:0001583	missense	131375				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr3:42445550C>A	BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.359G>T	3.37:g.42445550C>A	ENSP00000287748:p.Gly120Val						p.G120V	NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	4	608	-			120						Missense_Mutation	SNP	ENST00000287748.3	37	c.359G>T	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730134	0.48939	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.75704	-0.96;-0.96	4.41	4.41	0.53225	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000003	D	0.89146	0.6632	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91658	0.5340	10	0.87932	D	0	-13.9469	13.2155	0.59856	0.0:1.0:0.0:0.0	.	120	Q96KX0	LYZL4_HUMAN	V	120	ENSP00000287748:G120V;ENSP00000387897:G120V	ENSP00000287748:G120V	G	-	2	0	LYZL4	42420554	0.989000	0.36119	0.987000	0.45799	0.568000	0.35870	3.590000	0.53979	2.401000	0.81631	0.650000	0.86243	GGG		PASS	0.383	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634		15	60	15	60	---	---	---	---
CSPG5	10675	broad.mit.edu	37	3	47614277	47614277	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:47614277G>T	ENST00000383738.2	-	3	3379	c.1281C>A	c.(1279-1281)ggC>ggA	p.G427G	CSPG5_ENST00000456150.1_Silent_p.G289G|CSPG5_ENST00000264723.4_Silent_p.G427G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	427					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)	p.G427G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGCAGCCGAGCCCACGGCCA	0.587																																						uc003crp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1279-1281)GGC>GGA		chondroitin sulfate proteoglycan 5 (neuroglycan							102.0	79.0	87.0					3																	47614277		2203	4300	6503	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47614277G>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1281C>A	3.37:g.47614277G>T						CSPG5_uc003crn.2_Silent_p.G289G|CSPG5_uc003cro.3_Silent_p.G427G|CSPG5_uc011bbb.1_Silent_p.G289G	p.G427G	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	1457	-			427			Helical; (Potential).		Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.1281C>A	CCDS56253.1																																																																																				PASS	0.587	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		10	40	10	40	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57489909	57489909	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:57489909G>A	ENST00000351747.2	-	9	1100	c.920C>T	c.(919-921)aCt>aTt	p.T307I	DNAH12_ENST00000311202.6_Missense_Mutation_p.T307I|DNAH12_ENST00000389536.4_Missense_Mutation_p.T307I	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	307	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T307I(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCCTTCTACAGTTCTCCTTAA	0.303																																						uc003dit.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(919-921)ACT>ATT		dynein heavy chain domain 2 isoform 1							60.0	60.0	60.0					3																	57489909		2202	4299	6501	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57489909G>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.920C>T	3.37:g.57489909G>A	ENSP00000295937:p.Thr307Ile					DNAH12_uc003diu.2_Missense_Mutation_p.T307I	p.T307I	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			9	1101	-			307			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.920C>T		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913929	0.52439	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.22945	2.1;1.93;3.46;2.84	5.09	5.09	0.68999	.	0.170662	0.39834	N	0.001252	T	0.42988	0.1227	M	0.68952	2.095	0.80722	D	1	D;P	0.55385	0.971;0.93	P;B	0.55055	0.767;0.36	T	0.40040	-0.9584	10	0.72032	D	0.01	.	14.9407	0.70992	0.0:0.0:0.8566:0.1434	.	307;307	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	I	307	ENSP00000295937:T307I;ENSP00000418137:T307I;ENSP00000374187:T307I;ENSP00000312554:T307I	ENSP00000312554:T307I	T	-	2	0	DNAH12	57464949	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.422000	0.66453	2.367000	0.80283	0.655000	0.94253	ACT		PASS	0.303	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		10	55	10	55	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433255	73433255	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:73433255G>T	ENST00000263666.4	-	10	2576	c.2462C>A	c.(2461-2463)aCc>aAc	p.T821N	PDZRN3_ENST00000535920.1_Missense_Mutation_p.T543N|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T478N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T538N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T478N|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	821					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T821N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGGCTATAGGTAGGGGTGCC	0.657																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2461-2463)ACC>AAC		PDZ domain containing ring finger 3							52.0	58.0	56.0					3																	73433255		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433255G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2462C>A	3.37:g.73433255G>T	ENSP00000263666:p.Thr821Asn					PDZRN3_uc011bgh.1_Missense_Mutation_p.T478N|PDZRN3_uc010hoe.1_Missense_Mutation_p.T519N|PDZRN3_uc011bgf.1_Missense_Mutation_p.T538N|PDZRN3_uc011bgg.1_Missense_Mutation_p.T541N	p.T821N	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2558	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	821					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2462C>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.081813	0.00371	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.09538	2.97;3.67;3.56;3.56;3.67	5.01	-10.0	0.00425	.	2.983030	0.00721	N	0.000893	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.0;0.0	T	0.30822	-0.9965	10	0.22706	T	0.39	.	12.4017	0.55416	0.0:0.4007:0.4318:0.1675	.	543;538;538;821	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	N	821;543;478;478;538	ENSP00000263666:T821N;ENSP00000442026:T543N;ENSP00000418168:T478N;ENSP00000418484:T478N;ENSP00000418624:T538N	ENSP00000263666:T821N	T	-	2	0	PDZRN3	73515945	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.618000	0.05578	-4.659000	0.00037	-1.723000	0.00705	ACC		PASS	0.657	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		31	90	31	90	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74419134	74419135	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:74419134_74419135CC>AT	ENST00000263665.6	-	6	693_694	c.666_667GG>AT	c.(664-669)atGGgt>atATgt	p.222_223MG>IC		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	222					cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G223C(1)|p.M222I(1)|p.M222_G223>IC(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCATATTCACCCATCACACCTA	0.337																																						uc003dpm.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	breast(3)|ovary(1)|skin(1)	5						c.(667-669)GGT>TGT|c.(664-666)ATG>ATA		contactin 3 precursor																																				SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74419134C>A|g.chr3:74419135C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.666_667delinsAT	3.37:g.74419134_74419135delinsAT	ENSP00000263665:p.M222_G223delinsIC						p.G223C|p.M222I	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	6	747|746	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	223|222					B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.667G>T|c.666G>A	CCDS33790.1																																																																																				PASS	0.337	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		18	72|73	18	72	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97454768	97454768	+	Splice_Site	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:97454768G>T	ENST00000389672.5	+	16	2972		c.e16-1			NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.?(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTGCATTTAGGTCATTCTGT	0.403																																						uc010how.1																			2	Unknown(2)		lung(2)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.e16-1		EPH receptor A6 isoform a							73.0	71.0	72.0					3																	97454768		1898	4139	6037	SO:0001630	splice_region_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97454768G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2935-1G>T	3.37:g.97454768G>T						EPHA6_uc003drt.2_Splice_Site_p.V371_splice|EPHA6_uc010hox.1_Splice_Site	p.V979_splice	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			16	2978	+								D6RAL5	Splice_Site	SNP	ENST00000389672.5	37	c.2935_splice	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839056	0.91117	.	.	ENSG00000080224	ENST00000389672	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA6	98937458	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	.		PASS	0.403	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	Intron	13	55	13	55	---	---	---	---
HHLA2	11148	broad.mit.edu	37	3	108077008	108077008	+	Splice_Site	SNP	G	G	A	rs201821732		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:108077008G>A	ENST00000357759.5	+	6	1417	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	HHLA2_ENST00000467562.1_Splice_Site_p.E271K|HHLA2_ENST00000467761.1_Splice_Site_p.E335K|HHLA2_ENST00000489514.2_Splice_Site_p.E335K|HHLA2_ENST00000491820.1_Splice_Site_p.E335K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	335					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.E335K(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AGTGCATGTAGGTAAGTTGCA	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		21673	0.0		0.001	False		,,,				2504	0.0					uc003dwy.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1003-1005)GAA>AAA		HERV-H LTR-associating 2 precursor		G	LYS/GLU	0,3698		0,0,1849	48.0	46.0	47.0		1003	4.8	1.0	3		47	2,8184		0,2,4091	yes	missense-near-splice	HHLA2	NM_007072.2	56	0,2,5940	AA,AG,GG		0.0244,0.0,0.0168	possibly-damaging	335/415	108077008	2,11882	1849	4093	5942	SO:0001630	splice_region_variant	11148					integral to membrane		g.chr3:108077008G>A	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.1003+1G>A	3.37:g.108077008G>A						HHLA2_uc011bhl.1_Missense_Mutation_p.E271K|HHLA2_uc010hpu.2_Missense_Mutation_p.E335K|HHLA2_uc003dwz.2_Missense_Mutation_p.E335K	p.E335K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			6	1170	+			335					B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.1003G>A	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.34|14.34	2.505190|2.505190	0.44558|0.44558	0.0|0.0	2.44E-4|2.44E-4	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.10573|.	5.01;2.86;5.02;5.02;5.02|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Immunoglobulin subtype (1);|.	0.234230|.	0.21933|.	N|.	0.066998|.	T|T	0.31544|0.31544	0.0800|0.0800	N|N	0.14661|0.14661	0.345|0.345	0.24968|0.24968	N|N	0.991684|0.991684	D;D;D|.	0.76494|.	0.999;0.994;0.994|.	D;P;P|.	0.65323|.	0.934;0.883;0.883|.	T|T	0.16689|0.16689	-1.0394|-1.0394	10|5	0.18710|.	T|.	0.47|.	-30.8052|-30.8052	13.5146|13.5146	0.61533|0.61533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	271;335;335|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	K|K	335;271;335;335;335|237	ENSP00000418284:E335K;ENSP00000418345:E271K;ENSP00000350402:E335K;ENSP00000419207:E335K;ENSP00000417856:E335K|.	ENSP00000350402:E335K|.	E|R	+|+	1|2	0|0	HHLA2|HHLA2	109559698|109559698	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.156000|0.156000	0.22039|0.22039	4.613000|4.613000	0.61176|0.61176	2.635000|2.635000	0.89317|0.89317	0.650000|0.650000	0.86243|0.86243	GAA|AGA		PASS	0.338	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072	Missense_Mutation	13	49	13	49	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151085966	151085966	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:151085966G>T	ENST00000474524.1	+	23	3410	c.3372G>T	c.(3370-3372)ggG>ggT	p.G1124G	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.G984G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1124						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.G1124G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGAGCCTGGGGCGAGAATGA	0.512																																						uc003eyp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3370-3372)GGG>GGT		mediator of RNA polymerase II transcription,							66.0	65.0	65.0					3																	151085966		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151085966G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3372G>T	3.37:g.151085966G>T						MED12L_uc011bnz.1_Silent_p.G984G|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.G287G	p.G1124G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		23	3410	+			1124					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.3372G>T	CCDS33876.1																																																																																				PASS	0.512	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		5	139	5	139	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	174814846	174814846	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:174814846T>C	ENST00000454872.1	+	2	438	c.310T>C	c.(310-312)Tct>Cct	p.S104P	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	104						integral component of membrane (GO:0016021)		p.S104P(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCAAGAAGAATCTGACTACAT	0.408																																						uc003fit.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(310-312)TCT>CCT		N-acetylated alpha-linked acidic dipeptidase 2							72.0	71.0	71.0					3																	174814846		1873	4110	5983	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814846T>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.310T>C	3.37:g.174814846T>C	ENSP00000404705:p.Ser104Pro					NAALADL2_uc003fiu.1_Missense_Mutation_p.S97P	p.S104P	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	397	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	104			Cytoplasmic (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.310T>C	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	T	9.206	1.029635	0.19512	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.30182	1.67;1.54	5.72	0.625	0.17665	.	0.248336	0.29002	N	0.013454	T	0.13841	0.0335	N	0.11560	0.145	0.09310	N	0.99999	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.28586	-1.0039	10	0.17369	T	0.5	-1.5248	10.2726	0.43491	0.0:0.505:0.0:0.495	.	87;104	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	P	87;104	ENSP00000409858:S87P;ENSP00000404705:S104P	ENSP00000409858:S87P	S	+	1	0	NAALADL2	176297540	0.111000	0.22076	0.230000	0.23976	0.991000	0.79684	0.364000	0.20325	-0.051000	0.13334	0.528000	0.53228	TCT		PASS	0.408	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		10	258	10	258	---	---	---	---
DCUN1D1	54165	broad.mit.edu	37	3	182681668	182681668	+	Splice_Site	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr3:182681668C>G	ENST00000292782.4	-	3	543		c.e3+1		DCUN1D1_ENST00000469954.1_Splice_Site	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1							ubiquitin ligase complex (GO:0000151)		p.?(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TATATACTCACCCTAATTCTG	0.383																																						uc003fld.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+1		RP42 homolog							98.0	89.0	92.0					3																	182681668		2203	4300	6503	SO:0001630	splice_region_variant	54165					ubiquitin ligase complex	protein binding	g.chr3:182681668C>G	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.389+1G>C	3.37:g.182681668C>G						DCUN1D1_uc011bqn.1_Intron	p.G130_splice	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		3	438	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)							B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Splice_Site	SNP	ENST00000292782.4	37	c.389_splice	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593206	0.86953	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954;ENST00000497606	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4509	0.90703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCUN1D1	184164362	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.487000	0.81328	2.793000	0.96121	0.591000	0.81541	.		PASS	0.383	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	Intron	12	344	12	344	---	---	---	---
PDE6B	5158	broad.mit.edu	37	4	650791	650791	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:650791A>C	ENST00000496514.1	+	9	1257	c.1236A>C	c.(1234-1236)gaA>gaC	p.E412D	RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.E412D|PDE6B_ENST00000429163.2_Missense_Mutation_p.E133D			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	412	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.E412D(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	CCTTTGACGAACAGGACGAGG	0.597																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1234-1236)GAA>GAC		phosphodiesterase 6B isoform 1							77.0	67.0	70.0					4																	650791		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:650791A>C	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1236A>C	4.37:g.650791A>C	ENSP00000420295:p.Glu412Asp					PDE6B_uc003gao.3_Missense_Mutation_p.E412D|PDE6B_uc011buy.1_Missense_Mutation_p.E133D|uc003gaq.1_5'Flank	p.E412D	NM_000283	NP_000274	P35913	PDE6B_HUMAN			9	1289	+			412			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1236A>C	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727302	0.30593	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.70399	-0.48;-0.48;-0.48	4.98	-2.61	0.06171	GAF (2);	0.221952	0.45126	N	0.000384	T	0.58779	0.2146	L	0.53617	1.68	0.39333	D	0.965447	B;B	0.22746	0.074;0.006	B;B	0.36186	0.219;0.06	T	0.32640	-0.9899	10	0.22109	T	0.4	.	2.2961	0.04151	0.5216:0.1312:0.2064:0.1407	.	412;412	P35913;P35913-2	PDE6B_HUMAN;.	D	412;412;133	ENSP00000255622:E412D;ENSP00000420295:E412D;ENSP00000406334:E133D	ENSP00000255622:E412D	E	+	3	2	PDE6B	640791	0.996000	0.38824	0.897000	0.35233	0.514000	0.34195	0.372000	0.20467	-0.706000	0.05028	0.378000	0.23410	GAA		PASS	0.597	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		21	61	21	61	---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	955299	955299	+	Missense_Mutation	SNP	C	C	A	rs146830759		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:955299C>A	ENST00000273814.3	-	21	2603	c.2530G>T	c.(2530-2532)Gac>Tac	p.D844Y	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	844					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)	p.D844Y(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCAGCCCGTCGTCCATGCGT	0.716																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(2530-2532)GAC>TAC		diacylglycerol kinase, theta							15.0	15.0	15.0					4																	955299		2175	4288	6463	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955299C>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2530G>T	4.37:g.955299C>A	ENSP00000273814:p.Asp844Tyr					DGKQ_uc010ibn.2_Missense_Mutation_p.D831Y	p.D844Y	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		21	2604	-			844					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2530G>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876477	0.72180	.	.	ENSG00000145214	ENST00000273814;ENST00000515182	T;T	0.59638	0.25;0.25	5.54	5.54	0.83059	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.84365	0.5456	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89420	0.3709	10	0.87932	D	0	.	16.9732	0.86306	0.0:1.0:0.0:0.0	.	844;844	E9KL49;P52824	.;DGKQ_HUMAN	Y	844;59	ENSP00000273814:D844Y;ENSP00000421756:D59Y	ENSP00000273814:D844Y	D	-	1	0	DGKQ	945299	0.863000	0.29885	0.487000	0.27428	0.153000	0.21895	2.914000	0.48797	2.618000	0.88619	0.556000	0.70494	GAC		PASS	0.716	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			5	16	5	16	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9784721	9784721	+	Silent	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:9784721C>T	ENST00000304374.2	+	1	1464	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	356					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.P356P(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CACTCAACCCCGTCATCTATG	0.622																																						uc003gmb.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1066-1068)CCC>CCT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						83.0	78.0	80.0					4																	9784721		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784721C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1068C>T	4.37:g.9784721C>T							p.P356P	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1464	+			356			Helical; Name=7; (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.1068C>T	CCDS3405.1																																																																																				PASS	0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			31	110	31	110	---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47163312	47163312	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:47163312G>T	ENST00000295454.3	+	4	579	c.287G>T	c.(286-288)aGg>aTg	p.R96M	GABRB1_ENST00000538619.1_Missense_Mutation_p.R26M	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	96					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.R96M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAGACAAAAGGCTTTCTTAT	0.368																																						uc003gxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(286-288)AGG>ATG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						97.0	100.0	99.0					4																	47163312		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163312G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.287G>T	4.37:g.47163312G>T	ENSP00000295454:p.Arg96Met					GABRB1_uc011bze.1_Missense_Mutation_p.R26M	p.R96M	NM_000812	NP_000803	P18505	GBRB1_HUMAN			4	661	+			96			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.287G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769078	0.90020	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	D;D;D	0.82255	-1.59;-1.59;-1.59	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.140304	0.44688	D	0.000438	D	0.94512	0.8233	H	0.97491	4.015	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.96288	0.9211	10	0.87932	D	0	-17.5992	17.4825	0.87677	0.0:0.0:1.0:0.0	.	26;96	F5GXV5;P18505	.;GBRB1_HUMAN	M	63;96;26	ENSP00000426753:R63M;ENSP00000295454:R96M;ENSP00000440330:R26M	ENSP00000295454:R96M	R	+	2	0	GABRB1	46858069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.611000	0.88343	0.650000	0.86243	AGG		PASS	0.368	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			12	313	12	313	---	---	---	---
TMPRSS11E	28983	broad.mit.edu	37	4	69344689	69344689	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:69344689G>C	ENST00000305363.4	+	9	1154	c.1090G>C	c.(1090-1092)Gga>Cga	p.G364R		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	364	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G364R(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTCCTTAGAAGGAAAAACAGA	0.373																																						uc003hdz.3																			1	Substitution - Missense(1)		lung(1)								c.(1090-1092)GGA>CGA		transmembrane protease, serine 11E							166.0	162.0	163.0					4																	69344689		2203	4300	6503	SO:0001583	missense	0							g.chr4:69344689G>C	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1090G>C	4.37:g.69344689G>C	ENSP00000307519:p.Gly364Arg						p.G364R	NM_014058	NP_054777					9	1154	+								A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.1090G>C	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510420	0.44660	.	.	ENSG00000087128	ENST00000305363	D	0.90069	-2.61	5.31	5.31	0.75309	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47093	D	0.000256	D	0.94941	0.8364	M	0.86268	2.805	0.51482	D	0.999923	D	0.89917	1.0	D	0.97110	1.0	D	0.95425	0.8511	10	0.87932	D	0	.	16.83	0.85941	0.0:0.0:1.0:0.0	.	364	Q9UL52	TM11E_HUMAN	R	364	ENSP00000307519:G364R	ENSP00000307519:G364R	G	+	1	0	TMPRSS11E	69027284	1.000000	0.71417	0.120000	0.21714	0.001000	0.01503	8.405000	0.90213	2.640000	0.89533	0.655000	0.94253	GGA		PASS	0.373	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		6	256	6	256	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89671652	89671652	+	Silent	SNP	G	G	A	rs370077117		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:89671652G>A	ENST00000264344.5	-	15	2070	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	FAM13A_ENST00000511976.1_Silent_p.Y207Y|FAM13A_ENST00000503556.1_Silent_p.Y281Y|FAM13A_ENST00000508369.1_Silent_p.Y295Y|FAM13A_ENST00000395002.2_Silent_p.Y295Y|FAM13A_ENST00000513837.1_Silent_p.Y267Y	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	621					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Y295Y(1)|p.Y621Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCCCATAAGCGTAGAACCGAG	0.557																																						uc003hse.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(1861-1863)TAC>TAT		family with sequence similarity 13, member A1		G	,	0,4406		0,0,2203	121.0	119.0	120.0		885,1863	-8.4	0.0	4		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FAM13A	NM_001015045.1,NM_014883.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	295/698,621/1024	89671652	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89671652G>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1863C>T	4.37:g.89671652G>A						FAM13A_uc003hsa.1_Silent_p.Y92Y|FAM13A_uc003hsb.1_Silent_p.Y295Y|FAM13A_uc003hsd.1_Silent_p.Y295Y|FAM13A_uc003hsc.1_Silent_p.Y281Y|FAM13A_uc011cdq.1_Silent_p.Y267Y|FAM13A_uc003hsf.1_Silent_p.Y207Y|FAM13A_uc003hsg.1_Silent_p.Y92Y|FAM13A_uc010ikr.1_Silent_p.Y117Y	p.Y621Y	NM_014883	NP_055698	O94988	FA13A_HUMAN			15	2071	-			621					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.1863C>T	CCDS34029.1																																																																																				PASS	0.557	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			23	92	23	92	---	---	---	---
PITX2	5308	broad.mit.edu	37	4	111539595	111539595	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:111539595G>T	ENST00000354925.2	-	7	2345	c.640C>A	c.(640-642)Ccc>Acc	p.P214T	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.P221T|PITX2_ENST00000394595.3_Missense_Mutation_p.T145N|PITX2_ENST00000355080.5_Missense_Mutation_p.P168T|PITX2_ENST00000394598.2_Missense_Mutation_p.P214T	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	214					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P221T(1)|p.P214T(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATAGAGTTGGGTGGGGAAAAC	0.547																																						uc003iad.2																			2	Substitution - Missense(2)		lung(2)		0						c.(640-642)CCC>ACC		paired-like homeodomain transcription factor 2							85.0	81.0	82.0					4																	111539595		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111539595G>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.640C>A	4.37:g.111539595G>T	ENSP00000347004:p.Pro214Thr					PITX2_uc003iac.2_Missense_Mutation_p.P221T|PITX2_uc003iae.2_Missense_Mutation_p.P168T|PITX2_uc010iml.2_Missense_Mutation_p.P85T|PITX2_uc003iaf.2_Missense_Mutation_p.P214T	p.P214T	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1222	-		Hepatocellular(203;0.217)	214					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.640C>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988367|2.988367	0.53934|0.53934	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837|ENST00000394595	D;D;D;D;D|.	0.94457|.	-3.1;-3.22;-3.35;-3.22;-3.43|.	5.25|5.25	4.39|4.39	0.52855|0.52855	.|.	0.048570|.	0.85682|.	D|.	0.000000|.	T|T	0.69691|0.69691	0.3139|0.3139	M|M	0.83012|0.83012	2.62|2.62	0.27549|0.27549	N|N	0.950567|0.950567	P;B;D;P|.	0.58268|.	0.899;0.069;0.982;0.949|.	P;B;P;P|.	0.56127|.	0.611;0.037;0.792;0.786|.	T|T	0.66674|0.66674	-0.5864|-0.5864	10|6	0.54805|0.87932	T|D	0.06|0	.|.	15.2266|15.2266	0.73357|0.73357	0.0:0.0:0.8585:0.1415|0.0:0.0:0.8585:0.1415	.|.	168;168;214;221|.	A8K6C6;Q99697-3;Q99697;Q99697-2|.	.;.;PITX2_HUMAN;.|.	T|N	221;214;168;214;214|145	ENSP00000304169:P221T;ENSP00000378097:P214T;ENSP00000347192:P168T;ENSP00000347004:P214T;ENSP00000421454:P214T|.	ENSP00000304169:P221T|ENSP00000378095:T145N	P|T	-|-	1|2	0|0	PITX2|PITX2	111759044|111759044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.807000|7.807000	0.86032|0.86032	1.408000|1.408000	0.46895|0.46895	0.563000|0.563000	0.77884|0.77884	CCC|ACC		PASS	0.547	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			16	55	16	55	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072195	134072195	+	Silent	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:134072195T>C	ENST00000264360.5	+	1	1726	c.900T>C	c.(898-900)ctT>ctC	p.L300L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L300L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCGGGAGCTTTTCGGACTCT	0.622																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(898-900)CTT>CTC		protocadherin 10 isoform 1 precursor							43.0	46.0	45.0					4																	134072195		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072195T>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.900T>C	4.37:g.134072195T>C						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.L300L	p.L300L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1726	+			300			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.900T>C	CCDS34063.1																																																																																				PASS	0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		26	61	26	61	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144468620	144468620	+	Silent	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:144468620A>G	ENST00000283131.3	+	21	3198	c.2736A>G	c.(2734-2736)caA>caG	p.Q912Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	912					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q912Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGAGAATTCAAAGAAGAATAA	0.388																																						uc003ijg.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2734-2736)CAA>CAG		SWI/SNF-related matrix-associated							94.0	92.0	93.0					4																	144468620		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144468620A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2736A>G	4.37:g.144468620A>G							p.Q912Q	NM_003601	NP_003592	O60264	SMCA5_HUMAN			21	3198	+	all_hematologic(180;0.158)		912						Silent	SNP	ENST00000283131.3	37	c.2736A>G	CCDS3761.1																																																																																				PASS	0.388	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			28	49	28	49	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146479006	146479006	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:146479006C>G	ENST00000515385.1	+	7	1860	c.1318C>G	c.(1318-1320)Ctg>Gtg	p.L440V	SMAD1_ENST00000302085.4_Missense_Mutation_p.L440V|SMAD1_ENST00000394092.2_Missense_Mutation_p.L440V			Q15797	SMAD1_HUMAN	SMAD family member 1	440	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.L440V(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TGAGATACATCTGCACGGCCC	0.478											OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1318-1320)CTG>GTG		Sma- and Mad-related protein 1							150.0	154.0	153.0					4																	146479006		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146479006C>G	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1318C>G	4.37:g.146479006C>G	ENSP00000426568:p.Leu440Val		OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1702	SMAD1_uc003ikd.2_Missense_Mutation_p.L440V|SMAD1_uc010iov.2_Missense_Mutation_p.L440V|SMAD1_uc011cic.1_Missense_Mutation_p.L401V	p.L440V	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			7	1734	+	all_hematologic(180;0.151)		440			MH2.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.1318C>G	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856988	0.71834	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.99369	-5.78;-5.78;-5.78	5.49	5.49	0.81192	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.97265	3.97	0.80722	D	1	P	0.51653	0.947	D	0.63488	0.915	D	0.97799	1.0243	10	0.87932	D	0	.	13.9812	0.64306	0.0:0.9273:0.0:0.0727	.	440	Q15797	SMAD1_HUMAN	V	440	ENSP00000305769:L440V;ENSP00000377652:L440V;ENSP00000426568:L440V	ENSP00000305769:L440V	L	+	1	2	SMAD1	146698456	0.999000	0.42202	0.980000	0.43619	0.996000	0.88848	4.041000	0.57339	2.735000	0.93741	0.591000	0.81541	CTG		PASS	0.478	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		49	127	49	127	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173269787	173269787	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:173269787C>A	ENST00000506823.1	+	5	1157	c.500C>A	c.(499-501)aCc>aAc	p.T167N	GALNTL6_ENST00000508122.1_Missense_Mutation_p.T150N|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	167	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T167N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATTAACCGAACCCCAGGGAGT	0.408																																						uc003isv.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(499-501)ACC>AAC		N-acetylgalactosaminyltransferase-like 6							129.0	124.0	126.0					4																	173269787		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173269787C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.500C>A	4.37:g.173269787C>A	ENSP00000423313:p.Thr167Asn						p.T167N	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			5	1236	+			167			Catalytic subdomain A.|Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.500C>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.825097	0.71143	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.63096	-0.02;-0.02	5.38	5.38	0.77491	Glycosyl transferase, family 2 (1);	0.137971	0.32687	N	0.005779	T	0.70684	0.3252	M	0.81802	2.56	0.53005	D	0.999961	P	0.45634	0.863	B	0.43990	0.438	T	0.77122	-0.2704	10	0.87932	D	0	.	19.1289	0.93397	0.0:1.0:0.0:0.0	.	167	Q49A17	GLTL6_HUMAN	N	167;167;150	ENSP00000423313:T167N;ENSP00000423827:T150N	ENSP00000385382:T167N	T	+	2	0	GALNTL6	173506362	1.000000	0.71417	0.986000	0.45419	0.836000	0.47400	7.818000	0.86416	2.531000	0.85337	0.467000	0.42956	ACC		PASS	0.408	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		19	161	19	161	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183714169	183714169	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:183714169G>C	ENST00000511685.1	+	26	6467	c.6344G>C	c.(6343-6345)aGa>aCa	p.R2115T	TENM3_ENST00000406950.2_Missense_Mutation_p.R2115T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2115					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2115T(1)									GTAACCAAGAGAGAGATTAAA	0.398																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(6343-6345)AGA>ACA		odz, odd Oz/ten-m homolog 3							64.0	61.0	62.0					4																	183714169		1905	4106	6011	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183714169G>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6344G>C	4.37:g.183714169G>C	ENSP00000424226:p.Arg2115Thr						p.R2115T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	6381	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	2115			YD 17.|Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6344G>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391951	0.62066	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86562	-2.14;-2.14	4.89	4.89	0.63831	.	.	.	.	.	T	0.80396	0.4615	L	0.36672	1.1	0.80722	D	1	P	0.47409	0.895	B	0.34873	0.191	T	0.81575	-0.0870	9	0.35671	T	0.21	.	18.2684	0.90060	0.0:0.0:1.0:0.0	.	2115	Q9P273	TEN3_HUMAN	T	2115	ENSP00000424226:R2115T;ENSP00000385276:R2115T	ENSP00000385276:R2115T	R	+	2	0	ODZ3	183951163	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.623000	0.98386	2.534000	0.85438	0.563000	0.77884	AGA		PASS	0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			8	56	8	56	---	---	---	---
TRAPPC11	60684	broad.mit.edu	37	4	184626196	184626196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr4:184626196G>T	ENST00000334690.6	+	27	3230	c.3028G>T	c.(3028-3030)Gag>Tag	p.E1010*	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000512476.1_Nonsense_Mutation_p.E616*|TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.E1010*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1010					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.E1010*(1)									CGTGATTGTGGAGAATATCCC	0.393																																						uc003ivx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(3028-3030)GAG>TAG		hypothetical protein LOC60684 isoform a							158.0	145.0	149.0					4																	184626196		2203	4300	6503	SO:0001587	stop_gained	60684							g.chr4:184626196G>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3028G>T	4.37:g.184626196G>T	ENSP00000335371:p.Glu1010*					C4orf41_uc003ivw.2_Nonsense_Mutation_p.E1010*|C4orf41_uc010isc.2_Nonsense_Mutation_p.E354*|C4orf41_uc003ivy.2_Nonsense_Mutation_p.E616*	p.E1010*	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	27	3204	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	1010					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	ENST00000334690.6	37	c.3028G>T	CCDS34112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	37|37	6.380670|6.380670	0.97520|0.97520	.|.	.|.	ENSG00000168538|ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000512476|ENST00000360109	.|.	.|.	.|.	4.94|4.94	4.1|4.1	0.47936|0.47936	.|.	0.116270|.	0.56097|.	D|.	0.000021|.	.|T	.|0.74665	.|0.3746	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.82250	.|-0.0550	.|4	0.07482|0.87932	T|D	0.82|0	.|.	15.4501|15.4501	0.75265|0.75265	0.0:0.1394:0.8606:0.0|0.0:0.1394:0.8606:0.0	.|.	.|.	.|.	.|.	X|V	1010;1010;616|990	.|.	ENSP00000335371:E1010X|ENSP00000353223:G990V	E|G	+|+	1|2	0|0	C4orf41|C4orf41	184863190|184863190	1.000000|1.000000	0.71417|0.71417	0.033000|0.033000	0.17914|0.17914	0.418000|0.418000	0.31294|0.31294	7.418000|7.418000	0.80167|0.80167	1.098000|1.098000	0.41479|0.41479	-0.215000|-0.215000	0.12644|0.12644	GAG|GGA		PASS	0.393	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		38	176	38	176	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31409194	31409194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr5:31409194C>A	ENST00000511367.2	-	32	4067	c.3823G>T	c.(3823-3825)Gaa>Taa	p.E1275*	DROSHA_ENST00000344624.3_Nonsense_Mutation_p.E1275*|DROSHA_ENST00000442743.1_Nonsense_Mutation_p.E1238*|DROSHA_ENST00000513349.1_Nonsense_Mutation_p.E1238*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1275	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E1275*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCTTTTCCTTCTGTCCTAAGT	0.448																																						uc003jhg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(3823-3825)GAA>TAA		ribonuclease III, nuclear isoform 1							72.0	70.0	71.0					5																	31409194		1901	4134	6035	SO:0001587	stop_gained	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31409194C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3823G>T	5.37:g.31409194C>A	ENSP00000425979:p.Glu1275*					RNASEN_uc003jhh.2_Nonsense_Mutation_p.E1238*	p.E1275*	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			32	4182	-			1275			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|DRBM.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	ENST00000511367.2	37	c.3823G>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	43	10.250857	0.99368	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.9008	19.0541	0.93056	0.0:1.0:0.0:0.0	.	.	.	.	X	1275;1275;1238;1238;1200	.	ENSP00000265075:E1200X	E	-	1	0	DROSHA	31444951	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.378000	0.79679	2.508000	0.84585	0.655000	0.94253	GAA		PASS	0.448	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		16	71	16	71	---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37605177	37605177	+	Missense_Mutation	SNP	C	C	A	rs141732552	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr5:37605177C>A	ENST00000265107.4	+	10	1085	c.929C>A	c.(928-930)aCg>aAg	p.T310K	WDR70_ENST00000504564.1_Missense_Mutation_p.T310K|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	310							enzyme binding (GO:0019899)	p.T310K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGTGAGGACGTGGGAAGTT	0.378																																						uc003jkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(928-930)ACG>AAG		WD repeat domain 70							58.0	53.0	55.0					5																	37605177		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37605177C>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.929C>A	5.37:g.37605177C>A	ENSP00000265107:p.Thr310Lys					WDR70_uc010iva.1_Missense_Mutation_p.T310K	p.T310K	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	987	+	all_lung(31;0.000285)		310			WD 3.		Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.929C>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597789	0.46318	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.86230	5.03;-2.09	4.8	2.11	0.27256	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.463132	0.18473	U	0.140150	D	0.86552	0.5960	L	0.60455	1.87	0.43480	D	0.995701	P;P	0.43169	0.525;0.8	P;B	0.47573	0.55;0.282	D	0.83760	0.0214	10	0.87932	D	0	-14.8968	9.2786	0.37714	0.0:0.8502:0.0:0.1498	.	310;310	D6RIW8;Q9NW82	.;WDR70_HUMAN	K	310	ENSP00000265107:T310K;ENSP00000425841:T310K	ENSP00000265107:T310K	T	+	2	0	WDR70	37640934	1.000000	0.71417	0.334000	0.25495	0.946000	0.59487	4.629000	0.61290	0.156000	0.19299	-0.218000	0.12543	ACG		PASS	0.378	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		12	28	12	28	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41000446	41000446	+	Missense_Mutation	SNP	C	C	A	rs367639574		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr5:41000446C>A	ENST00000399564.4	-	39	4808	c.4358G>T	c.(4357-4359)cGt>cTt	p.R1453L	MROH2B_ENST00000506092.2_Missense_Mutation_p.R1008L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1453								p.R1453H(1)|p.R1453L(1)									CAAGACATCACGGCAAGCCTG	0.483																																						uc003jmj.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(6)|central_nervous_system(2)	8						c.(4357-4359)CGT>CTT		HEAT repeat family member 7B2							50.0	50.0	50.0					5																	41000446		1914	4123	6037	SO:0001583	missense	133558						binding	g.chr5:41000446C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4358G>T	5.37:g.41000446C>A	ENSP00000382476:p.Arg1453Leu					HEATR7B2_uc003jmi.3_Missense_Mutation_p.R1008L	p.R1453L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			39	4848	-			1453					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4358G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675723	0.67928	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.60548	0.18;0.18	5.99	5.99	0.97316	Armadillo-like helical (1);Armadillo-type fold (1);	0.097397	0.46145	D	0.000301	T	0.57519	0.2059	M	0.63843	1.955	0.42261	D	0.992019	P	0.39116	0.66	B	0.37692	0.256	T	0.60840	-0.7183	10	0.51188	T	0.08	.	15.9778	0.80083	0.0:1.0:0.0:0.0	.	1453	Q7Z745	HTRB2_HUMAN	L	1008;1158;1453	ENSP00000441504:R1008L;ENSP00000382476:R1453L	ENSP00000296803:R1158L	R	-	2	0	HEATR7B2	41036203	0.999000	0.42202	1.000000	0.80357	0.909000	0.53808	2.172000	0.42463	2.840000	0.97914	0.655000	0.94253	CGT		PASS	0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		10	49	10	49	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80363900	80363900	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr5:80363900C>T	ENST00000265080.4	+	3	512	c.445C>T	c.(445-447)Cat>Tat	p.H149Y		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	149					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H149Y(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGTACATTCATCTAGTTCA	0.353																																						uc003kha.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(445-447)CAT>TAT		Ras protein-specific guanine							134.0	133.0	133.0					5																	80363900		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80363900C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.445C>T	5.37:g.80363900C>T	ENSP00000265080:p.His149Tyr					RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank	p.H149Y	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	3	445	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	149					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.445C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077292	0.94000	.	.	ENSG00000113319	ENST00000265080	T	0.44083	0.93	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65940	-0.6046	10	0.87932	D	0	.	19.8321	0.96640	0.0:1.0:0.0:0.0	.	149	O14827	RGRF2_HUMAN	Y	149	ENSP00000265080:H149Y	ENSP00000265080:H149Y	H	+	1	0	RASGRF2	80399656	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.685000	0.91497	0.655000	0.94253	CAT		PASS	0.353	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		31	69	31	69	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82789510	82789510	+	Missense_Mutation	SNP	C	C	G	rs148875090	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr5:82789510C>G	ENST00000265077.3	+	4	1156	c.591C>G	c.(589-591)gaC>gaG	p.D197E	VCAN_ENST00000513984.1_Missense_Mutation_p.D197E|VCAN_ENST00000502527.2_Missense_Mutation_p.D197E|VCAN_ENST00000512590.2_Missense_Mutation_p.D149E|VCAN_ENST00000343200.5_Missense_Mutation_p.D197E|VCAN_ENST00000342785.4_Missense_Mutation_p.D197E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	197	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.D197E(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGCAGTGTGACGCAGGCTGGC	0.502																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(589-591)GAC>GAG		versican isoform 1 precursor							98.0	98.0	98.0					5																	82789510		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789510C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.591C>G	5.37:g.82789510C>G	ENSP00000265077:p.Asp197Glu					VCAN_uc003kij.3_Missense_Mutation_p.D197E|VCAN_uc010jau.2_Missense_Mutation_p.D197E|VCAN_uc003kik.3_Missense_Mutation_p.D197E|VCAN_uc003kih.3_Missense_Mutation_p.D197E	p.D197E	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	4	947	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	197			Link 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.591C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394178	0.83011	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.68	-6.18	0.02085	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000006	T	0.35624	0.0938	M	0.88105	2.93	0.39687	D	0.970988	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0	T	0.49485	-0.8935	10	0.87932	D	0	.	13.155	0.59511	0.0:0.4637:0.0:0.5363	.	197;197;197;197;197	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	E	197;197;197;149;197;197;197	ENSP00000265077:D197E;ENSP00000340062:D197E;ENSP00000342768:D197E;ENSP00000425959:D149E;ENSP00000426251:D197E;ENSP00000426715:D197E;ENSP00000421362:D197E	ENSP00000265077:D197E	D	+	3	2	VCAN	82825266	0.422000	0.25473	0.915000	0.36163	0.975000	0.68041	-0.315000	0.08081	-1.228000	0.02568	0.591000	0.81541	GAC		PASS	0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		20	81	20	81	---	---	---	---
SPINK13	153218	broad.mit.edu	37	5	147661774	147661774	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr5:147661774T>A	ENST00000512953.1	+	5	747	c.216T>A	c.(214-216)tgT>tgA	p.C72*	SPINK13_ENST00000398450.4_Nonsense_Mutation_p.C72*|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_Nonsense_Mutation_p.C32*			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	72	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C72*(1)		breast(2)|lung(3)	5						AGAATGAGTGTttcttttgtg	0.393																																						uc003lpc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(214-216)TGT>TGA		serine PI Kazal type 5-like 3 precursor							134.0	120.0	125.0					5																	147661774		1901	4128	6029	SO:0001587	stop_gained	153218					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147661774T>A		CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"""Serine peptidase inhibitors, Kazal type"""	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.216T>A	5.37:g.147661774T>A	ENSP00000421048:p.Cys72*					uc003lpb.1_Intron|SPINK13_uc010jgt.2_RNA	p.C72*	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN			4	278	+			72			Kazal-like.		A1A4Y2	Nonsense_Mutation	SNP	ENST00000512953.1	37	c.216T>A	CCDS43383.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462026	0.43736	.	.	ENSG00000214510	ENST00000512953;ENST00000511106;ENST00000398450	.	.	.	3.8	0.23	0.15372	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6577	0.17652	0.0:0.3838:0.0:0.6162	.	.	.	.	X	72;32;72	.	ENSP00000381468:C72X	C	+	3	2	SPINK13	147641967	0.931000	0.31567	0.740000	0.30986	0.504000	0.33889	0.080000	0.14802	0.045000	0.15804	-0.269000	0.10298	TGT		PASS	0.393	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373337.1	NM_001040129.2		18	77	18	77	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176637416	176637416	+	Silent	SNP	A	A	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr5:176637416A>T	ENST00000439151.2	+	5	2061	c.2016A>T	c.(2014-2016)acA>acT	p.T672T	NSD1_ENST00000361032.4_Silent_p.T569T|NSD1_ENST00000347982.4_Silent_p.T403T|NSD1_ENST00000354179.4_Silent_p.T403T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	672					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T672T(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGATAGAACAGAGAACATGT	0.398			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - coding silent(2)		lung(2)	ovary(2)|kidney(1)	3						c.(2014-2016)ACA>ACT		nuclear receptor binding SET domain protein 1							100.0	99.0	99.0					5																	176637416		2203	4300	6503	SO:0001819	synonymous_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637416A>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2016A>T	5.37:g.176637416A>T		HNSCC(47;0.14)				NSD1_uc003mft.3_Silent_p.T403T|NSD1_uc003mfs.1_Silent_p.T569T|NSD1_uc011dfx.1_Silent_p.T320T	p.T672T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2154	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	672					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.2016A>T	CCDS4412.1																																																																																				PASS	0.398	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		23	88	23	88	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7247354	7247354	+	Silent	SNP	C	C	T	rs200867216	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:7247354C>T	ENST00000349384.6	+	11	4820	c.4506C>T	c.(4504-4506)agC>agT	p.S1502S	RREB1_ENST00000379938.2_Silent_p.S1557S|RREB1_ENST00000379933.3_Silent_p.S1502S|RREB1_ENST00000334984.6_Intron	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1502					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1502S(1)|p.S1557S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCCCAAAAGCGTGGCCAGCA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		17735	0.002		0.0	False		,,,				2504	0.0					uc003mxc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(4504-4506)AGC>AGT		ras responsive element binding protein 1 isoform							72.0	69.0	70.0					6																	7247354		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7247354C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4506C>T	6.37:g.7247354C>T						RREB1_uc003mxb.2_Silent_p.S1557S|RREB1_uc010jnx.2_Intron	p.S1502S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			11	4896	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1502					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.4506C>T	CCDS34336.1																																																																																				PASS	0.612	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			18	27	18	27	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12122201	12122201	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:12122201G>A	ENST00000379388.2	+	4	2505	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	725					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G725R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTTGCCCACAGGGGAAAAGGC	0.507																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2173-2175)GGG>AGG		human immunodeficiency virus type I enhancer							58.0	58.0	58.0					6																	12122201		2057	4186	6243	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122201G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2173G>A	6.37:g.12122201G>A	ENSP00000368698:p.Gly725Arg					HIVEP1_uc011diq.1_RNA	p.G725R	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2352	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	725					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2173G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342545	0.61073	.	.	ENSG00000095951	ENST00000379388	T	0.48522	0.81	5.92	4.1	0.47936	.	0.438240	0.16992	N	0.191274	T	0.28333	0.0700	M	0.65975	2.015	0.31873	N	0.619484	P	0.47302	0.893	B	0.39465	0.3	T	0.08330	-1.0727	9	.	.	.	-12.779	11.0155	0.47687	0.1539:0.0:0.8461:0.0	.	725	P15822	ZEP1_HUMAN	R	725	ENSP00000368698:G725R	.	G	+	1	0	HIVEP1	12230187	0.367000	0.25023	0.119000	0.21687	0.317000	0.28152	1.751000	0.38339	0.802000	0.34089	0.655000	0.94253	GGG		PASS	0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		22	47	22	47	---	---	---	---
HIST1H2BJ	8970	broad.mit.edu	37	6	27100317	27100317	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:27100317G>C	ENST00000607124.1	-	1	212	c.213C>G	c.(211-213)ttC>ttG	p.F71L	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.F71L|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.F71L			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71L(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CGATGCGCTCGAAAATGTCGT	0.567																																						uc003niv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)TTC>TTG		histone cluster 1, H2bj							152.0	144.0	147.0					6																	27100317		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100317G>C	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.213C>G	6.37:g.27100317G>C	ENSP00000476136:p.Phe71Leu					HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	p.F71L	NM_021058	NP_066402	P06899	H2B1J_HUMAN			1	259	-			71					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.213C>G	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949874	0.34377	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.63744	-0.06;-0.06	4.17	1.38	0.22167	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.67297	0.2878	M	0.86268	2.805	0.48632	D	0.999683	D	0.67145	0.996	D	0.64410	0.925	T	0.68157	-0.5483	9	0.66056	D	0.02	.	7.0617	0.25129	0.3929:0.0:0.6071:0.0	.	71	P06899	H2B1J_HUMAN	L	71	ENSP00000445633:F71L;ENSP00000342886:F71L	ENSP00000342886:F71L	F	-	3	2	HIST1H2BJ	27208296	1.000000	0.71417	0.999000	0.59377	0.045000	0.14185	2.809000	0.47971	0.149000	0.19098	-0.469000	0.05056	TTC		PASS	0.567	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		21	176	21	176	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28542626	28542626	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:28542626C>T	ENST00000452236.2	-	3	2473	c.1856G>A	c.(1855-1857)tGt>tAt	p.C619Y	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.C619Y(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTTCCATCACATGATATACA	0.428																																						uc003nlo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1855-1857)TGT>TAT		SCAN domain containing 3							85.0	78.0	80.0					6																	28542626		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542626C>T																												ENST00000452236.2:c.1856G>A	6.37:g.28542626C>T	ENSP00000395259:p.Cys619Tyr						p.C619Y	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2474	-			619						Missense_Mutation	SNP	ENST00000452236.2	37	c.1856G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	8.276	0.814481	0.16607	.	.	ENSG00000232040	ENST00000452236	T	0.02140	4.43	3.41	3.41	0.39046	.	.	.	.	.	T	0.01092	0.0036	L	0.47716	1.5	0.09310	N	1	B	0.30406	0.278	B	0.25405	0.06	T	0.42292	-0.9460	9	0.66056	D	0.02	.	10.5109	0.44862	0.0:1.0:0.0:0.0	.	619	Q6R2W3	SCND3_HUMAN	Y	619	ENSP00000395259:C619Y	ENSP00000395259:C619Y	C	-	2	0	SCAND3	28650605	0.001000	0.12720	0.093000	0.20910	0.951000	0.60555	0.613000	0.24299	1.913000	0.55393	0.563000	0.77884	TGT		PASS	0.428	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			12	45	12	45	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28542795	28542795	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:28542795C>T	ENST00000452236.2	-	3	2304	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.A563T(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCATACTGGGCTCTTAAAGTA	0.413																																						uc003nlo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1687-1689)GCC>ACC		SCAN domain containing 3							83.0	82.0	82.0					6																	28542795		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542795C>T																												ENST00000452236.2:c.1687G>A	6.37:g.28542795C>T	ENSP00000395259:p.Ala563Thr						p.A563T	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2305	-			563			Potential.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1687G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	9.438	1.087234	0.20390	.	.	ENSG00000232040	ENST00000452236	T	0.01548	4.78	3.41	0.456	0.16655	.	.	.	.	.	T	0.00580	0.0019	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45891	-0.9230	9	0.20519	T	0.43	.	3.5687	0.07909	0.0:0.5378:0.2118:0.2504	.	563	Q6R2W3	SCND3_HUMAN	T	563	ENSP00000395259:A563T	ENSP00000395259:A563T	A	-	1	0	SCAND3	28650774	0.005000	0.15991	0.566000	0.28421	0.884000	0.51177	-0.524000	0.06222	-0.035000	0.13691	-0.253000	0.11424	GCC		PASS	0.413	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			18	77	18	77	---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323110	29323110	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:29323110A>G	ENST00000377154.1	-	4	1162	c.863T>C	c.(862-864)aTa>aCa	p.I288T	OR5V1_ENST00000543825.1_Missense_Mutation_p.I288T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I288T(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTGTAAATTATAGGGTTTAG	0.393																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(862-864)ATA>ACA		olfactory receptor, family 5, subfamily V,							127.0	124.0	125.0					6																	29323110		2203	4300	6503	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323110A>G		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.863T>C	6.37:g.29323110A>G	ENSP00000366359:p.Ile288Thr						p.I288T	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	945	-			288			Helical; Name=7; (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.863T>C	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.620534	0.28801	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.47869	0.83;0.83	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	1.141860	0.06964	N	0.816826	T	0.22820	0.0551	L	0.38175	1.15	0.09310	N	1	P	0.36616	0.561	B	0.27380	0.079	T	0.30765	-0.9967	10	0.87932	D	0	-24.6666	13.9454	0.64082	1.0:0.0:0.0:0.0	.	288	Q9UGF6	OR5V1_HUMAN	T	288	ENSP00000366359:I288T;ENSP00000443309:I288T	ENSP00000366356:I288T	I	-	2	0	OR5V1	29431089	0.701000	0.27806	0.006000	0.13384	0.725000	0.41563	6.330000	0.72925	2.021000	0.59480	0.443000	0.29094	ATA		PASS	0.393	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			53	123	53	123	---	---	---	---
TAPBP	6892	broad.mit.edu	37	6	33272838	33272838	+	Missense_Mutation	SNP	C	C	G	rs370619502		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:33272838C>G	ENST00000489157.1	-	3	747	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	TAPBP_ENST00000475304.1_Missense_Mutation_p.E284Q|TAPBP_ENST00000434618.2_Missense_Mutation_p.E266Q|TAPBP_ENST00000456592.2_Missense_Mutation_p.E266Q|TAPBP_ENST00000426633.2_Missense_Mutation_p.E266Q			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	266					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)	p.E266Q(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TAGGTGCCCTCCTGAAAGGGT	0.582																																						uc003odx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)GAG>CAG		tapasin isoform 1 precursor							118.0	116.0	117.0					6																	33272838		2203	4300	6503	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272838C>G	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.535G>C	6.37:g.33272838C>G	ENSP00000419659:p.Glu179Gln					TAPBP_uc010jus.1_Missense_Mutation_p.E284Q|TAPBP_uc003ody.2_Missense_Mutation_p.E266Q|TAPBP_uc003odz.2_Missense_Mutation_p.E266Q|TAPBP_uc010jut.1_Missense_Mutation_p.E179Q|TAPBP_uc011drc.1_Missense_Mutation_p.E266Q	p.E266Q	NM_003190	NP_003181	O15533	TPSN_HUMAN			4	967	-			266			Lumenal (Potential).		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.796G>C	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677105	0.68042	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741	T;T;T;T;T	0.47177	0.9;0.85;0.98;0.87;0.9	4.69	4.69	0.59074	.	0.262255	0.38492	N	0.001661	T	0.62258	0.2413	M	0.79926	2.475	0.37100	D	0.899854	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.995;0.973;0.995;0.995;0.995;0.988	T	0.68708	-0.5337	10	0.72032	D	0.01	-27.1859	12.9811	0.58564	0.0:1.0:0.0:0.0	.	266;179;284;266;266;266	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	Q	266;284;179;266;266;266;266	ENSP00000395701:E266Q;ENSP00000417949:E284Q;ENSP00000419659:E179Q;ENSP00000404833:E266Q;ENSP00000387803:E266Q	ENSP00000404833:E266Q	E	-	1	0	TAPBP	33380816	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.666000	0.54540	2.425000	0.82216	0.478000	0.44815	GAG		PASS	0.582	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			11	113	11	113	---	---	---	---
PRICKLE4	29964	broad.mit.edu	37	6	41754618	41754618	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:41754618G>T	ENST00000394260.1	+	5	786	c.786G>T	c.(784-786)ctG>ctT	p.L262L	PRICKLE4_ENST00000458694.1_Silent_p.L302L|PRICKLE4_ENST00000394263.1_Silent_p.L302L|TOMM6_ENST00000398881.3_5'Flank|TOMM6_ENST00000398884.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	262						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L302L(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAGGGGGCTGCCTGGATCCA	0.617											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011duf.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(904-906)CTG>CTT		over-expressed breast tumor protein							77.0	85.0	82.0					6																	41754618		2203	4300	6503	SO:0001819	synonymous_variant	29964					nucleus	zinc ion binding	g.chr6:41754618G>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.786G>T	6.37:g.41754618G>T			OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	903	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_RNA|TOMM6_uc011dug.1_5'Flank	p.L302L	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	1154	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		262					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Silent	SNP	ENST00000394260.1	37	c.906G>T																																																																																					PASS	0.617	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		38	110	38	110	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42643823	42643823	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:42643823G>T	ENST00000372899.1	+	39	4539	c.4281G>T	c.(4279-4281)ttG>ttT	p.L1427F	UBR2_ENST00000372901.1_Missense_Mutation_p.L1427F|UBR2_ENST00000372883.3_Intron	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1427					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1427F(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTCCTGCGTTGCAGTGTCAGG	0.458																																						uc011dur.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4279-4281)TTG>TTT		ubiquitin protein ligase E3 component n-recognin							310.0	243.0	266.0					6																	42643823		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42643823G>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4281G>T	6.37:g.42643823G>T	ENSP00000361990:p.Leu1427Phe					UBR2_uc011dus.1_Missense_Mutation_p.L1072F|UBR2_uc003osh.2_Intron|UBR2_uc011dut.1_Missense_Mutation_p.L15F	p.L1427F	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		39	4281	+	Colorectal(47;0.196)		1427					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.4281G>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576780	0.65878	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.56941	0.43;0.43	5.03	5.03	0.67393	.	0.367627	0.25363	N	0.031208	T	0.51329	0.1668	M	0.64404	1.975	0.80722	D	1	P;D	0.59357	0.888;0.985	P;P	0.61003	0.474;0.882	T	0.55811	-0.8082	10	0.39692	T	0.17	-12.4687	6.5488	0.22420	0.2267:0.0:0.7733:0.0	.	1427;1427	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	F	1427	ENSP00000361990:L1427F;ENSP00000361992:L1427F	ENSP00000361990:L1427F	L	+	3	2	UBR2	42751801	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	3.142000	0.50601	2.338000	0.79540	0.467000	0.42956	TTG		PASS	0.458	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		13	156	13	156	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66204975	66204975	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:66204975G>T	ENST00000370621.3	-	4	855	c.329C>A	c.(328-330)tCt>tAt	p.S110Y	EYS_ENST00000370618.3_Missense_Mutation_p.S110Y|EYS_ENST00000503581.1_Missense_Mutation_p.S110Y|EYS_ENST00000342421.5_Missense_Mutation_p.S110Y|EYS_ENST00000393380.2_Missense_Mutation_p.S110Y|EYS_ENST00000370616.2_Missense_Mutation_p.S110Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	110					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S110Y(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCCAACGAAAGATGTTTCAGA	0.358																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(328-330)TCT>TAT		eyes shut homolog isoform 1							74.0	72.0	73.0					6																	66204975		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204975G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.329C>A	6.37:g.66204975G>T	ENSP00000359655:p.Ser110Tyr					EYS_uc003peq.2_Missense_Mutation_p.S110Y|EYS_uc003per.1_Missense_Mutation_p.S110Y|EYS_uc010kaj.1_RNA	p.S110Y	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	867	-			110					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.329C>A		.	.	.	.	.	.	.	.	.	.	G	14.67	2.605824	0.46527	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90261	-1.67;-1.66;-1.66;-2.64;-2.6;-2.6	4.92	1.89	0.25635	.	.	.	.	.	T	0.81959	0.4933	N	0.19112	0.55	0.09310	N	1	P;D;D	0.65815	0.899;0.995;0.991	P;P;P	0.61201	0.568;0.885;0.77	T	0.72912	-0.4148	9	0.54805	T	0.06	.	4.3592	0.11194	0.1873:0.0:0.5722:0.2405	.	110;110;110	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	Y	110	ENSP00000424243:S110Y;ENSP00000359655:S110Y;ENSP00000359650:S110Y;ENSP00000377042:S110Y;ENSP00000341818:S110Y;ENSP00000359652:S110Y	ENSP00000341818:S110Y	S	-	2	0	EYS	66261696	0.791000	0.28800	0.419000	0.26584	0.946000	0.59487	1.473000	0.35387	0.559000	0.29153	0.591000	0.81541	TCT		PASS	0.358	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		11	136	11	136	---	---	---	---
LCA5	167691	broad.mit.edu	37	6	80223047	80223047	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:80223047A>C	ENST00000392959.1	-	4	1213	c.602T>G	c.(601-603)tTt>tGt	p.F201C	LCA5_ENST00000467898.3_Missense_Mutation_p.F201C|LCA5_ENST00000369846.4_Missense_Mutation_p.F201C	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	201					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.F201C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTGTAAGGAAAATTTTGTCCT	0.368																																						uc003pix.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)TTT>TGT		Leber congenital amaurosis 5							161.0	156.0	158.0					6																	80223047		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223047A>C		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.602T>G	6.37:g.80223047A>C	ENSP00000376686:p.Phe201Cys					LCA5_uc003piy.2_Missense_Mutation_p.F201C|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.F201C	p.F201C	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	3	1037	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	201			Potential.		E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.602T>G	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.515967	0.27123	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.76709	-1.04;-1.04	6.07	2.46	0.29980	.	0.474766	0.22705	N	0.056656	T	0.46425	0.1392	L	0.41236	1.265	0.26818	N	0.968841	B;B	0.10296	0.002;0.003	B;B	0.13407	0.009;0.004	T	0.38693	-0.9649	10	0.37606	T	0.19	-4.303	6.2813	0.21009	0.3588:0.4652:0.1759:0.0	.	201;201	B4DRL2;Q86VQ0	.;LCA5_HUMAN	C	201	ENSP00000358861:F201C;ENSP00000376686:F201C	ENSP00000358861:F201C	F	-	2	0	LCA5	80279766	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	0.687000	0.25407	0.515000	0.28320	0.533000	0.62120	TTT		PASS	0.368	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		43	138	43	138	---	---	---	---
NT5E	4907	broad.mit.edu	37	6	86201753	86201753	+	Silent	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:86201753T>C	ENST00000257770.3	+	8	1468	c.1419T>C	c.(1417-1419)gaT>gaC	p.D473D	NT5E_ENST00000369651.3_Silent_p.D423D	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	473					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.D473D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TCAAATTAGATGTTCTTTGCA	0.443																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1417-1419)GAT>GAC		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						173.0	169.0	170.0					6																	86201753		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86201753T>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1419T>C	6.37:g.86201753T>C						NT5E_uc010kbr.2_Silent_p.D423D	p.D473D	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	8	1975	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	473					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.1419T>C	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	T	1.159	-0.644364	0.03531	.	.	ENSG00000135318	ENST00000416334	.	.	.	5.66	1.57	0.23409	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	-6.957	6.893	0.24241	0.2449:0.0:0.4367:0.3184	.	.	.	.	T	188	.	.	M	+	2	0	NT5E	86258472	0.992000	0.36948	0.995000	0.50966	0.185000	0.23345	0.096000	0.15147	0.456000	0.26937	0.533000	0.62120	ATG		PASS	0.443	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			51	226	51	226	---	---	---	---
GPR63	81491	broad.mit.edu	37	6	97246607	97246607	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:97246607C>T	ENST00000229955.3	-	2	1346	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Missense_Mutation_p.S334N	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	334						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S334N(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGCCACAAGGCTGTAAGTGGT	0.443																																						uc010kcl.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1000-1002)AGC>AAC		G protein-coupled receptor 63							105.0	89.0	95.0					6																	97246607		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246607C>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.1001G>A	6.37:g.97246607C>T	ENSP00000229955:p.Ser334Asn					GPR63_uc003pou.2_Missense_Mutation_p.S334N	p.S334N	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1479	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	334			Helical; Name=6; (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.1001G>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805341	0.50315	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.36699	1.24;1.24;1.24	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	N	0.25380	0.74	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.02852	-1.1102	10	0.06625	T	0.88	-14.3138	19.0987	0.93265	0.0:1.0:0.0:0.0	.	334	Q9BZJ6	GPR63_HUMAN	N	358;334;334;334	ENSP00000393170:S334N;ENSP00000229955:S334N;ENSP00000358273:S334N	ENSP00000229955:S334N	S	-	2	0	GPR63	97353328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.595000	0.87683	0.650000	0.86243	AGC		PASS	0.443	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			29	70	29	70	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129475703	129475703	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:129475703A>G	ENST00000421865.2	+	8	1130	c.1081A>G	c.(1081-1083)Aga>Gga	p.R361G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	361	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R361G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAATGTTGCCAGAAGAAATCT	0.348																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(1081-1083)AGA>GGA		laminin alpha 2 subunit isoform a precursor							83.0	85.0	85.0					6																	129475703		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129475703A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1081A>G	6.37:g.129475703A>G	ENSP00000400365:p.Arg361Gly					LAMA2_uc003qbo.2_Missense_Mutation_p.R361G	p.R361G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	8	1186	+			361			Laminin EGF-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1081A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342301	0.41498	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.35421	1.31	6.06	3.62	0.41486	EGF-like, laminin (3);	0.555806	0.19488	N	0.113042	T	0.10723	0.0262	L	0.48935	1.535	0.27865	N	0.940243	B;B	0.21688	0.059;0.0	B;B	0.24269	0.052;0.003	T	0.29366	-1.0014	10	0.22109	T	0.4	.	4.3528	0.11163	0.5856:0.1616:0.2527:0.0	.	361;361	A6NF00;P24043	.;LAMA2_HUMAN	G	361	ENSP00000400365:R361G	ENSP00000346769:R361G	R	+	1	2	LAMA2	129517396	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.505000	0.53356	0.500000	0.27991	0.533000	0.62120	AGA		PASS	0.348	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			10	89	10	89	---	---	---	---
TMEM181	57583	broad.mit.edu	37	6	159044617	159044617	+	Missense_Mutation	SNP	G	G	A	rs375221837		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:159044617G>A	ENST00000367090.3	+	11	1354	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	448					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.R448Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TACCAGTATCGAGTTGATACC	0.259																																						uc003qrm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1342-1344)CGA>CAA		G protein-coupled receptor 178		G	GLN/ARG	0,3590		0,0,1795	46.0	45.0	45.0		1343	4.9	1.0	6		45	1,8139		0,1,4069	no	missense	TMEM181	NM_020823.1	43	0,1,5864	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	448/613	159044617	1,11729	1795	4070	5865	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159044617G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1343G>A	6.37:g.159044617G>A	ENSP00000356057:p.Arg448Gln					TMEM181_uc010kjr.1_Missense_Mutation_p.R279Q	p.R448Q	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	11	1354	+		Breast(66;0.000776)|Ovarian(120;0.0303)	448					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1343G>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196818	0.38806	0.0	1.23E-4	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.40225	1.04	5.79	4.92	0.64577	.	0.102228	0.64402	D	0.000002	T	0.12860	0.0312	N	0.25647	0.755	0.34709	D	0.727577	D	0.54047	0.964	B	0.40285	0.325	T	0.02766	-1.1113	10	0.12430	T	0.62	.	9.4864	0.38933	0.157:0.0:0.843:0.0	.	448	Q9P2C4	TM181_HUMAN	Q	355;448	ENSP00000356057:R448Q	ENSP00000323755:R355Q	R	+	2	0	TMEM181	158964605	1.000000	0.71417	0.960000	0.40013	0.595000	0.36748	3.970000	0.56824	2.733000	0.93635	0.650000	0.86243	CGA		PASS	0.259	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		3	48	3	48	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165749635	165749635	+	Silent	SNP	C	C	A	rs377355629		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr6:165749635C>A	ENST00000366882.1	-	22	2368	c.2214G>T	c.(2212-2214)acG>acT	p.T738T	PDE10A_ENST00000354448.4_Silent_p.T738T|PDE10A_ENST00000539869.2_Silent_p.T748T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	738					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.T738T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GAAGAGGCTCCGTGGGAGGGA	0.463																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(2212-2214)ACG>ACT		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						93.0	87.0	89.0					6																	165749635		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165749635C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2214G>T	6.37:g.165749635C>A						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.T668T|PDE10A_uc003quo.2_Silent_p.T748T	p.T738T	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	22	2455	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	738					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.2214G>T																																																																																					PASS	0.463	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	60	7	60	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6183809	6183809	+	Silent	SNP	C	C	T	rs151011297		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:6183809C>T	ENST00000306177.5	+	9	1130	c.972C>T	c.(970-972)acC>acT	p.T324T		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	324	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.T324T(1)|p.T452T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAAATTTTACCGGTGGAAAAA	0.368													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20668	0.0		0.0	False		,,,				2504	0.0					uc011jwo.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(970-972)ACC>ACT		ubiquitin specific peptidase 42							98.0	92.0	94.0					7																	6183809		1831	4083	5914	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6183809C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.972C>T	7.37:g.6183809C>T						USP42_uc011jwn.1_Silent_p.T169T|USP42_uc010kth.1_Silent_p.T257T|USP42_uc011jwp.1_Silent_p.T324T|USP42_uc011jwq.1_Silent_p.T131T|USP42_uc011jwr.1_Silent_p.T169T	p.T324T	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	9	1095	+		Ovarian(82;0.0423)	324					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.972C>T	CCDS47535.1																																																																																				PASS	0.368	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		7	21	7	21	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14217688	14217688	+	Silent	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:14217688C>A	ENST00000403951.2	-	24	2633	c.2214G>T	c.(2212-2214)cgG>cgT	p.R738R	DGKB_ENST00000444700.2_Silent_p.R719R|DGKB_ENST00000406247.3_Silent_p.R738R|DGKB_ENST00000258767.5_Silent_p.R738R|DGKB_ENST00000399322.3_Silent_p.R738R|DGKB_ENST00000407950.1_Silent_p.R730R|DGKB_ENST00000402815.1_Silent_p.R737R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	738					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R738R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GAGCCAGCCGCCGGCCAGCAC	0.507																																						uc003ssz.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2212-2214)CGG>CGT		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						58.0	66.0	64.0					7																	14217688		2105	4274	6379	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14217688C>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2214G>T	7.37:g.14217688C>A						DGKB_uc011jxt.1_Silent_p.R719R|DGKB_uc003sta.2_Silent_p.R738R|DGKB_uc011jxu.1_Silent_p.R737R	p.R738R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			23	2401	-			738					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.2214G>T	CCDS47547.1																																																																																				PASS	0.507	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		19	94	19	94	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23766889	23766889	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:23766889G>T	ENST00000355870.3	+	5	398	c.279G>T	c.(277-279)caG>caT	p.Q93H	STK31_ENST00000428484.1_Missense_Mutation_p.Q70H|STK31_ENST00000354639.3_Missense_Mutation_p.Q70H|STK31_ENST00000433467.2_Missense_Mutation_p.Q93H|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	93	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.Q93H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAAGATCAGTGTTGGTACA	0.323																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(277-279)CAG>CAT		serine/threonine kinase 31 isoform a							124.0	118.0	120.0					7																	23766889		2203	4298	6501	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23766889G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.279G>T	7.37:g.23766889G>T	ENSP00000348132:p.Gln93His					STK31_uc003swt.3_Missense_Mutation_p.Q70H|STK31_uc011jze.1_Missense_Mutation_p.Q93H|STK31_uc010kuq.2_Missense_Mutation_p.Q70H	p.Q93H	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			5	346	+			93			Tudor.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.279G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247078	0.39697	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000444333;ENST00000428484	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.67	-0.293	0.12835	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.181172	0.47093	D	0.000255	T	0.08537	0.0212	N	0.24115	0.695	0.21675	N	0.999597	P;B	0.39883	0.693;0.196	B;B	0.42282	0.382;0.183	T	0.21109	-1.0255	10	0.66056	D	0.02	-11.0016	11.052	0.47896	0.697:0.0:0.303:0.0	.	93;93	B4DZ06;Q9BXU1	.;STK31_HUMAN	H	93;49;70;93;70;70;70	ENSP00000348132:Q93H;ENSP00000414087:Q49H;ENSP00000389340:Q70H;ENSP00000411852:Q93H;ENSP00000346660:Q70H;ENSP00000398413:Q70H;ENSP00000406146:Q70H	ENSP00000346660:Q70H	Q	+	3	2	STK31	23733414	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	0.942000	0.29017	-0.025000	0.13918	-0.781000	0.03364	CAG		PASS	0.323	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		16	89	16	89	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27150111	27150111	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:27150111C>A	ENST00000396352.4	-	2	348	c.149G>T	c.(148-150)tGc>tTc	p.C50F	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.C50F	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	50					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C50F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CTGGAGGGAGCAGGCGGGTCG	0.692																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(148-150)TGC>TTC		homeobox A3 isoform a							12.0	12.0	12.0					7																	27150111		2112	4181	6293	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27150111C>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.149G>T	7.37:g.27150111C>A	ENSP00000379640:p.Cys50Phe					HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.C50F	p.C50F	NM_030661	NP_109377	O43365	HXA3_HUMAN			2	349	-			50					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.149G>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682248	0.88542	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T	0.71579	3.31;3.31;-0.58	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86929	0.2072	10	0.87932	D	0	.	19.6239	0.95670	0.0:1.0:0.0:0.0	.	50	O43365	HXA3_HUMAN	F	50	ENSP00000379640:C50F;ENSP00000324884:C50F;ENSP00000429426:C50F	ENSP00000324884:C50F	C	-	2	0	HOXA3	27116636	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.384000	0.79751	2.654000	0.90174	0.462000	0.41574	TGC		PASS	0.692	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			4	19	4	19	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71488694	71488694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:71488694G>T	ENST00000329008.5	-	4	621	c.323C>A	c.(322-324)tCa>tAa	p.S108*	CALN1_ENST00000405452.2_Nonsense_Mutation_p.S108*|CALN1_ENST00000412588.1_Nonsense_Mutation_p.S150*|CALN1_ENST00000395276.2_Nonsense_Mutation_p.S108*|CALN1_ENST00000395275.2_Nonsense_Mutation_p.S150*|CALN1_ENST00000431984.1_Nonsense_Mutation_p.S108*	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.S108*(1)|p.S150*(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCGACCTTCTGAAGACACCAG	0.423																																						uc003twa.3																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(322-324)TCA>TAA		calneuron 1 isoform 2							132.0	119.0	124.0					7																	71488694		2203	4300	6503	SO:0001587	stop_gained	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71488694G>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.323C>A	7.37:g.71488694G>T	ENSP00000332498:p.Ser108*					CALN1_uc003twb.3_Nonsense_Mutation_p.S150*|CALN1_uc003twc.3_Nonsense_Mutation_p.S108*	p.S108*	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			4	850	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	108			Cytoplasmic (Potential).		J3KQA7	Nonsense_Mutation	SNP	ENST00000329008.5	37	c.323C>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152947	0.94645	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	.	.	.	5.87	5.87	0.94306	.	0.057769	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-18.6054	18.0718	0.89410	0.0:0.0:1.0:0.0	.	.	.	.	X	108;150;108;108;150;108;108	.	ENSP00000332498:S108X	S	-	2	0	CALN1	71126630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.974000	0.93433	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.423	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		38	92	38	92	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77764405	77764405	+	Missense_Mutation	SNP	G	G	T	rs553836901	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:77764405G>T	ENST00000354212.4	-	17	3217	c.2964C>A	c.(2962-2964)caC>caA	p.H988Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.H988Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.H974Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	988	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.H988Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CGATGTCAGCGTGAGGCATGT	0.537																																						uc003ugx.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2962-2964)CAC>CAA		membrane associated guanylate kinase, WW and PDZ							267.0	200.0	222.0					7																	77764405		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764405G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2964C>A	7.37:g.77764405G>T	ENSP00000346151:p.His988Gln					MAGI2_uc003ugy.2_Missense_Mutation_p.H974Q|MAGI2_uc010ldx.1_Missense_Mutation_p.H581Q	p.H988Q	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			17	3218	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	988			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2964C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832862	0.71258	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.29917	1.55;1.55;1.55	6.06	0.0442	0.14224	PDZ/DHR/GLGF (4);	0.000000	0.37857	U	0.001920	T	0.51261	0.1664	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.998;1.0;0.998	T	0.53301	-0.8458	10	0.87932	D	0	.	10.5909	0.45308	0.6235:0.0:0.3765:0.0	.	988;974;988	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Q	974;988;988;988	ENSP00000405766:H974Q;ENSP00000346151:H988Q;ENSP00000428389:H988Q	ENSP00000346151:H988Q	H	-	3	2	MAGI2	77602341	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.698000	0.25571	0.066000	0.16515	0.655000	0.94253	CAC		PASS	0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		24	143	24	143	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81386586	81386586	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:81386586C>T	ENST00000222390.5	-	4	627	c.401G>A	c.(400-402)cGc>cAc	p.R134H	HGF_ENST00000444829.2_Missense_Mutation_p.R134H|HGF_ENST00000354224.6_Missense_Mutation_p.R134H|HGF_ENST00000423064.2_Missense_Mutation_p.R134H|HGF_ENST00000457544.2_Missense_Mutation_p.R134H|HGF_ENST00000453018.1_Missense_Mutation_p.R31H|HGF_ENST00000453411.1_Missense_Mutation_p.R134H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	134	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.R134H(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTTGTAGCTGCGTCCTTTACC	0.358																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(400-402)CGC>CAC		hepatocyte growth factor isoform 1							175.0	156.0	162.0					7																	81386586		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81386586C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.401G>A	7.37:g.81386586C>T	ENSP00000222390:p.Arg134His					HGF_uc003uhm.2_Missense_Mutation_p.R134H|HGF_uc003uhn.1_Missense_Mutation_p.R134H|HGF_uc003uho.1_Missense_Mutation_p.R134H|HGF_uc003uhp.2_Missense_Mutation_p.R134H	p.R134H	NM_000601	NP_000592	P14210	HGF_HUMAN			4	566	-			134			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.401G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535614	0.45176	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;1.53	4.89	4.89	0.63831	Kringle (5);Kringle-like fold (1);	0.582382	0.18864	N	0.129038	T	0.51500	0.1678	N	0.21448	0.665	0.25843	N	0.984038	P;B;B;P;P	0.44986	0.847;0.297;0.184;0.597;0.68	B;B;B;B;B	0.37989	0.009;0.111;0.111;0.171;0.262	T	0.51663	-0.8677	10	0.44086	T	0.13	.	14.1169	0.65159	0.0:0.8022:0.1978:0.0	.	169;134;134;134;134	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	H	134;134;134;134;134;134;134;31;134	ENSP00000222390:R134H;ENSP00000391238:R134H;ENSP00000389854:R134H;ENSP00000408270:R134H;ENSP00000413829:R134H;ENSP00000346164:R134H;ENSP00000395468:R31H;ENSP00000396307:R134H	ENSP00000222390:R134H	R	-	2	0	HGF	81224522	0.431000	0.25546	0.995000	0.50966	0.978000	0.69477	1.826000	0.39092	2.262000	0.75019	0.655000	0.94253	CGC		PASS	0.358	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		26	76	26	76	---	---	---	---
CPSF4	10898	broad.mit.edu	37	7	99048393	99048393	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:99048393G>C	ENST00000292476.5	+	5	482	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E105Q|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.E158Q|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.E126Q			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	158					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E158Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATTCTGCCCGGAGGGGCCCTC	0.622																																						uc003uqj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(472-474)GAG>CAG		cleavage and polyadenylation specific factor 4,							67.0	76.0	73.0					7																	99048393		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99048393G>C		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.472G>C	7.37:g.99048393G>C	ENSP00000292476:p.Glu158Gln					PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.E158Q|CPSF4_uc003uqk.2_Missense_Mutation_p.E158Q|CPSF4_uc011kix.1_Missense_Mutation_p.E105Q	p.E158Q	NM_006693	NP_006684	O95639	CPSF4_HUMAN			5	615	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		158			C3H1-type 5.		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.472G>C	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.360299|4.360299	0.82353|0.82353	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580;ENST00000412686|ENST00000440514	T;T;T;T;T|.	0.42131|.	1.0;1.0;1.0;1.0;0.98|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Zinc finger, CCCH-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73305|0.73305	0.3570|0.3570	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;B;P;P|.	0.56746|.	0.977;0.364;0.571;0.516|.	P;B;B;B|.	0.57244|.	0.816;0.135;0.285;0.192|.	T|T	0.69022|0.69022	-0.5255|-0.5255	10|5	0.25751|.	T|.	0.34|.	-11.059|-11.059	19.9738|19.9738	0.97296|0.97296	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105;158;158;158|.	B7Z7B0;O95639-3;O95639;O95639-2|.	.;.;CPSF4_HUMAN;.|.	Q|A	158;126;158;105;105|39	ENSP00000395311:E158Q;ENSP00000396060:E126Q;ENSP00000292476:E158Q;ENSP00000402224:E105Q;ENSP00000401150:E105Q|.	ENSP00000292476:E158Q|.	E|G	+|+	1|2	0|0	CPSF4|CPSF4	98886329|98886329	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.363000|0.363000	0.29612|0.29612	9.476000|9.476000	0.97823|0.97823	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.622	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			23	130	23	130	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99711547	99711547	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:99711547G>T	ENST00000344095.4	-	3	712	c.187C>A	c.(187-189)Cgg>Agg	p.R63R	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Silent_p.R63R|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_Silent_p.R6R|TAF6_ENST00000472509.1_Silent_p.R120R|TAF6_ENST00000437822.2_Silent_p.R100R|TAF6_ENST00000453269.2_Silent_p.R63R	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	63					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R63R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTTCTGCCGCTTCCCCATG	0.567																																						uc003uti.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(187-189)CGG>AGG		TBP-associated factor 6 isoform alpha							119.0	104.0	109.0					7																	99711547		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711547G>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.187C>A	7.37:g.99711547G>T						TAF6_uc003utg.2_Silent_p.R4R|TAF6_uc003uth.2_Silent_p.R120R|TAF6_uc003utk.2_Silent_p.R63R|TAF6_uc011kji.1_Silent_p.R100R|TAF6_uc003utj.2_Silent_p.R53R|TAF6_uc003utl.2_Silent_p.R63R|TAF6_uc003utm.2_Silent_p.R63R|TAF6_uc003utn.1_RNA	p.R63R	NM_139315	NP_647476	P49848	TAF6_HUMAN			3	268	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		63					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.187C>A	CCDS5686.1																																																																																				PASS	0.567	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		38	121	38	121	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100676743	100676743	+	Silent	SNP	T	T	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:100676743T>G	ENST00000306151.4	+	3	2110	c.2046T>G	c.(2044-2046)acT>acG	p.T682T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	682	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T682T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACCTCAACTTATACTGAAG	0.478																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2044-2046)ACT>ACG		mucin 17 precursor							319.0	323.0	322.0					7																	100676743		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676743T>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2046T>G	7.37:g.100676743T>G						MUC17_uc010lho.1_RNA	p.T682T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2099	+	Lung NSC(181;0.136)|all_lung(186;0.182)		682			Extracellular (Potential).|9.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2046T>G	CCDS34711.1																																																																																				PASS	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		113	451	113	451	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508508	106508508	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:106508508G>T	ENST00000359195.3	+	2	812	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V168L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V168L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	168					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V168L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCAGCAACGTGCACGACGA	0.672																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(502-504)GTG>TTG		phosphoinositide-3-kinase, catalytic, gamma							30.0	34.0	33.0					7																	106508508		2203	4298	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508508G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.502G>T	7.37:g.106508508G>T	ENSP00000352121:p.Val168Leu					PIK3CG_uc003vdu.2_Missense_Mutation_p.V168L|PIK3CG_uc003vdw.2_Missense_Mutation_p.V168L	p.V168L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	587	+			168					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.502G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255882	0.80135	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70631	-0.5;-0.5;-0.5	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.66939	2.045	0.80722	D	1	B	0.27013	0.166	B	0.21360	0.034	T	0.65286	-0.6205	10	0.07813	T	0.8	-24.8267	19.3967	0.94610	0.0:0.0:1.0:0.0	.	168	P48736	PK3CG_HUMAN	L	168	ENSP00000392258:V168L;ENSP00000419260:V168L;ENSP00000352121:V168L	ENSP00000352121:V168L	V	+	1	0	PIK3CG	106295744	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.506000	0.97992	2.651000	0.90000	0.467000	0.42956	GTG		PASS	0.672	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			12	43	12	43	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955161	116955161	+	Silent	SNP	G	G	T	rs144337728		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:116955161G>T	ENST00000265441.3	-	3	851	c.552C>A	c.(550-552)gcC>gcA	p.A184A	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	184					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A184A(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GATTCATCAGGGCTCTGGCAt	0.463																																						uc003viz.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(550-552)GCC>GCA		wingless-type MMTV integration site family							128.0	119.0	122.0					7																	116955161		2203	4300	6503	SO:0001819	synonymous_variant	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955161G>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.552C>A	7.37:g.116955161G>T						WNT2_uc003vja.2_Silent_p.A88A	p.A184A	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	852	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		184					A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.552C>A	CCDS5771.1																																																																																				PASS	0.463	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		28	150	28	150	---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635320	122635320	+	Silent	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:122635320C>T	ENST00000249284.2	-	1	434	c.369G>A	c.(367-369)ttG>ttA	p.L123L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.L123L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAACAACCTCAAAATTCTCC	0.408																																						uc003vkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(367-369)TTG>TTA		taste receptor T2R16							87.0	85.0	86.0					7																	122635320		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635320C>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.369G>A	7.37:g.122635320C>T							p.L123L	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	435	-			123			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.369G>A	CCDS5785.1																																																																																				PASS	0.408	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		15	77	15	77	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149515739	149515739	+	RNA	SNP	A	A	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr7:149515739A>T	ENST00000378016.2	+	0	11641							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCTCCCCCAGGTGGCTGGG	0.701																																						uc010lpk.2																			0					0						c.e84-2		SCO-spondin precursor							20.0	24.0	23.0					7																	149515739		1953	4128	6081			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515739A>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515739A>T							p.G3881_splice	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		84	11642	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	Splice_Site	SNP	ENST00000378016.2	37	c.11642_splice																																																																																					PASS	0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	26	4	26	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2966161	2966161	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:2966161A>C	ENST00000520002.1	-	45	7276	c.6721T>G	c.(6721-6723)Ttt>Gtt	p.F2241V	CSMD1_ENST00000400186.3_Missense_Mutation_p.F2241V|CSMD1_ENST00000602557.1_Missense_Mutation_p.F2241V|CSMD1_ENST00000537824.1_Missense_Mutation_p.F2240V|CSMD1_ENST00000602723.1_Missense_Mutation_p.F2241V|CSMD1_ENST00000542608.1_Missense_Mutation_p.F2240V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2241	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.F1969V(1)|p.F2240V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCATTTGAAAAGTCGCTGTGG	0.488																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6721-6723)TTT>GTT		CUB and Sushi multiple domains 1 precursor							85.0	84.0	85.0					8																	2966161		1922	4131	6053	SO:0001583	missense	64478					integral to membrane		g.chr8:2966161A>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6721T>G	8.37:g.2966161A>C	ENSP00000430733:p.Phe2241Val					CSMD1_uc011kwj.1_Missense_Mutation_p.F1633V|CSMD1_uc010lrg.2_Missense_Mutation_p.F309V	p.F2241V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	44	7111	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2241			Extracellular (Potential).|CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6721T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.83|14.83	2.653978|2.653978	0.47362|0.47362	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.17213|.	2.29;2.29;2.29;2.29|.	4.95|4.95	4.95|4.95	0.65309|0.65309	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56217|0.56217	0.1970|0.1970	L|L	0.35249|0.35249	1.045|1.045	0.80722|0.80722	D|D	1|1	D;P;D|.	0.69078|.	0.994;0.898;0.997|.	D;P;D|.	0.81914|.	0.985;0.542;0.995|.	T|T	0.53493|0.53493	-0.8431|-0.8431	10|5	0.26408|.	T|.	0.33|.	.|.	14.8886|14.8886	0.70590|0.70590	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2241;2241;2240|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	V|R	2241;2241;2102;2240;2240|1720	ENSP00000383047:F2241V;ENSP00000430733:F2241V;ENSP00000441462:F2240V;ENSP00000446243:F2240V|.	ENSP00000320445:F2102V|.	F|L	-|-	1|2	0|0	CSMD1|CSMD1	2953568|2953568	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.030000|0.030000	0.12068|0.12068	6.885000|6.885000	0.75606|0.75606	1.971000|1.971000	0.57363|0.57363	0.472000|0.472000	0.43445|0.43445	TTT|CTT		PASS	0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	23	6	23	---	---	---	---
DEFB1	1672	broad.mit.edu	37	8	6728282	6728282	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:6728282T>C	ENST00000297439.3	-	2	292	c.128A>G	c.(127-129)cAa>cGa	p.Q43R		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	43					acute inflammatory response (GO:0002526)|antibacterial humoral response (GO:0019731)|chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|response to bacterium (GO:0009617)|response to testosterone (GO:0033574)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.Q43R(1)		lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		ATAGAGACATTGCCCTCCACT	0.488																																					Pancreas(35;916 948 9612 33610 36642)	uc003wqs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CAA>CGA		defensin, beta 1 preproprotein							130.0	106.0	114.0					8																	6728282		2203	4300	6503	SO:0001583	missense	1672				chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region		g.chr8:6728282T>C	X92744	CCDS5959.1	8p23.1	2012-03-27			ENSG00000164825	ENSG00000164825		"""Defensins, beta"""	2766	protein-coding gene	gene with protein product		602056				7628632	Standard	NM_005218		Approved	HBD-1, DEFB-1, DEFB101, HBD1, BD1, MGC51822	uc003wqs.2	P60022	OTTHUMG00000090367	ENST00000297439.3:c.128A>G	8.37:g.6728282T>C	ENSP00000297439:p.Gln43Arg						p.Q43R	NM_005218	NP_005209	P60022	DEFB1_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)	2	278	-			43					Q09753	Missense_Mutation	SNP	ENST00000297439.3	37	c.128A>G	CCDS5959.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829623	0.32329	.	.	ENSG00000164825	ENST00000297439	T	0.21031	2.03	4.24	-5.53	0.02552	.	2.165380	0.02661	N	0.107519	T	0.11750	0.0286	.	.	.	0.09310	N	1	P	0.34412	0.453	B	0.30316	0.114	T	0.13282	-1.0515	9	0.36615	T	0.2	-2.2809	5.5685	0.17184	0.1254:0.0:0.4695:0.4051	.	43	P60022	DEFB1_HUMAN	R	43	ENSP00000297439:Q43R	ENSP00000297439:Q43R	Q	-	2	0	DEFB1	6715692	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.146000	0.16180	-1.350000	0.02199	-1.304000	0.01323	CAA		PASS	0.488	DEFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251292.1	NM_005218		26	62	26	62	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9562186	9562186	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:9562186A>G	ENST00000310430.6	+	6	1147	c.1121A>G	c.(1120-1122)cAt>cGt	p.H374R	TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000518281.1_Missense_Mutation_p.H137R|TNKS_ENST00000520408.1_Missense_Mutation_p.H374R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	374					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.H374R(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACTCCTTTACATCTAGCAGCG	0.383																																						uc003wss.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(1120-1122)CAT>CGT		tankyrase, TRF1-interacting ankyrin-related							153.0	143.0	146.0					8																	9562186		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9562186A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1121A>G	8.37:g.9562186A>G	ENSP00000311579:p.His374Arg					TNKS_uc011kwv.1_Missense_Mutation_p.H374R|TNKS_uc011kww.1_Missense_Mutation_p.H137R	p.H374R	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	6	1126	+			374			ANK 4.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1121A>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426922	0.83667	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.71341	-0.56;-0.56;-0.56	5.54	5.54	0.83059	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	H	0.94385	3.53	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.70016	0.934;0.967	D	0.91271	0.5044	10	0.66056	D	0.02	.	15.9702	0.80008	1.0:0.0:0.0:0.0	.	374;374	E7EWY6;O95271	.;TNKS1_HUMAN	R	374;374;137	ENSP00000428299:H374R;ENSP00000311579:H374R;ENSP00000429890:H137R	ENSP00000311579:H374R	H	+	2	0	TNKS	9599596	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	9.287000	0.95975	2.228000	0.72767	0.482000	0.46254	CAT		PASS	0.383	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		33	100	33	100	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59404139	59404139	+	Silent	SNP	T	T	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:59404139T>A	ENST00000301645.3	-	6	1547	c.1410A>T	c.(1408-1410)atA>atT	p.I470I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	470					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.I470I(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTTGGCCCTCTATAAGCTCCA	0.403									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1408-1410)ATA>ATT		cytochrome P450, family 7, subfamily A,							54.0	56.0	55.0					8																	59404139		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404139T>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1410A>T	8.37:g.59404139T>A							p.I470I	NM_000780	NP_000771	P22680	CP7A1_HUMAN			6	1473	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	470					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.1410A>T	CCDS6171.1																																																																																				PASS	0.403	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		25	66	25	66	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71071794	71071794	+	Missense_Mutation	SNP	C	C	A	rs187848241	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:71071794C>A	ENST00000452400.2	-	10	1251	c.1070G>T	c.(1069-1071)cGt>cTt	p.R357L	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	357					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.R357L(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTCTGAGAACGGATGAGTTT	0.398			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1069-1071)CGT>CTT		nuclear receptor coactivator 2							190.0	189.0	189.0					8																	71071794		1891	4108	5999	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71071794C>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1070G>T	8.37:g.71071794C>A	ENSP00000399968:p.Arg357Leu						p.R357L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		10	1232	-	Breast(64;0.201)		357					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1070G>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638389	0.87760	.	.	ENSG00000140396	ENST00000452400	T	0.16743	2.32	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	M	0.76328	2.33	0.80722	D	1	P	0.43542	0.81	B	0.43508	0.422	T	0.01111	-1.1448	10	0.33141	T	0.24	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	357	Q15596	NCOA2_HUMAN	L	357	ENSP00000399968:R357L	ENSP00000399968:R357L	R	-	2	0	NCOA2	71234348	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGT		PASS	0.398	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			43	215	43	215	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72964957	72964957	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:72964957G>T	ENST00000262209.4	-	14	1895	c.1688C>A	c.(1687-1689)gCc>gAc	p.A563D	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	563					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.A563D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAGCGCAACGGCTTTGGCGTG	0.463																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1687-1689)GCC>GAC		ankyrin-like protein 1	Menthol(DB00825)						151.0	127.0	135.0					8																	72964957		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964957G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1688C>A	8.37:g.72964957G>T	ENSP00000262209:p.Ala563Asp					uc011lff.1_RNA|uc003xyy.2_RNA	p.A563D	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1863	-			563			Cytoplasmic (Potential).|ANK 14.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1688C>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225323	0.79576	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.67345	-0.26;-0.26	4.98	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84991	0.0894	10	0.72032	D	0.01	-7.0378	18.6199	0.91317	0.0:0.0:1.0:0.0	.	563	O75762	TRPA1_HUMAN	D	415;563	ENSP00000428151:A415D;ENSP00000262209:A563D	ENSP00000262209:A563D	A	-	2	0	TRPA1	73127511	1.000000	0.71417	0.694000	0.30210	0.500000	0.33767	8.688000	0.91260	2.466000	0.83321	0.585000	0.79938	GCC		PASS	0.463	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		27	111	27	111	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95531467	95531467	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:95531467A>C	ENST00000297591.5	-	9	2334	c.2259T>G	c.(2257-2259)atT>atG	p.I753M	KIAA1429_ENST00000421249.2_Missense_Mutation_p.I753M|KIAA1429_ENST00000437199.1_Missense_Mutation_p.I753M	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	753			I -> V (in dbSNP:rs7814840).		mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I753M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATGCATCATCAATAACACCAT	0.398																																						uc003ygo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2257-2259)ATT>ATG		hypothetical protein LOC25962 isoform 1							110.0	93.0	99.0					8																	95531467		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531467A>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2259T>G	8.37:g.95531467A>C	ENSP00000297591:p.Ile753Met					KIAA1429_uc003ygp.2_Missense_Mutation_p.I753M|KIAA1429_uc010maz.1_RNA	p.I753M	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2272	-	Breast(36;3.29e-05)		753					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.2259T>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584082	0.28268	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.42900	0.96;0.97;0.97	4.83	-4.17	0.03857	.	0.221331	0.45867	D	0.000334	T	0.14743	0.0356	N	0.04508	-0.205	0.09310	N	0.999992	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.004	T	0.06144	-1.0843	10	0.46703	T	0.11	-6.5163	5.2354	0.15443	0.3048:0.0:0.4176:0.2776	.	753;753	Q69YN4-4;Q69YN4	.;VIR_HUMAN	M	753	ENSP00000297591:I753M;ENSP00000395600:I753M;ENSP00000398390:I753M	ENSP00000297591:I753M	I	-	3	3	KIAA1429	95600643	0.001000	0.12720	0.927000	0.36925	0.990000	0.78478	-0.674000	0.05233	-0.705000	0.05035	0.455000	0.32223	ATT		PASS	0.398	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		6	86	6	86	---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99234724	99234724	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:99234724G>T	ENST00000341166.3	-	5	796	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	NIPAL2_ENST00000430223.2_Missense_Mutation_p.Q181K|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	181						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.Q181K(1)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						ATCAGGAACTGCCATCCGACA	0.388																																						uc003yil.1																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)CAG>AAG		NIPA-like domain containing 2							169.0	161.0	163.0					8																	99234724		2203	4300	6503	SO:0001583	missense	79815					integral to membrane		g.chr8:99234724G>T	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.541C>A	8.37:g.99234724G>T	ENSP00000339256:p.Gln181Lys					NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Missense_Mutation_p.Q181K	p.Q181K	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN			5	797	-			181			Helical; (Potential).		A2RTY8	Missense_Mutation	SNP	ENST00000341166.3	37	c.541C>A	CCDS6278.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924990	0.52759	.	.	ENSG00000104361	ENST00000430223;ENST00000341166	D;D	0.90133	-2.62;-2.62	5.81	3.89	0.44902	.	0.443294	0.23674	N	0.045693	D	0.88676	0.6501	M	0.62723	1.935	0.32294	N	0.565965	P;P	0.48162	0.8;0.906	P;B	0.45232	0.474;0.437	D	0.87377	0.2354	10	0.37606	T	0.19	-3.369	8.669	0.34138	0.0:0.1394:0.4963:0.3643	.	181;181	A2RTY8;Q9H841	.;NPAL2_HUMAN	K	181	ENSP00000407087:Q181K;ENSP00000339256:Q181K	ENSP00000339256:Q181K	Q	-	1	0	NIPAL2	99303900	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.288000	0.33296	0.653000	0.30826	-0.188000	0.12872	CAG		PASS	0.388	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		28	128	28	128	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110424585	110424585	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:110424585C>A	ENST00000378402.5	+	20	2281	c.2177C>A	c.(2176-2178)gCa>gAa	p.A726E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	726					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A728E(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGACTCAGCAGATGTTAAA	0.373										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2176-2178)GCA>GAA		fibrocystin L precursor							111.0	101.0	104.0					8																	110424585		1832	4086	5918	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110424585C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2177C>A	8.37:g.110424585C>A	ENSP00000367655:p.Ala726Glu	HNSCC(38;0.096)					p.A726E	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		20	2281	+			726			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2177C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387874	0.25031	.	.	ENSG00000205038	ENST00000378402	D	0.85088	-1.94	4.9	3.96	0.45880	.	0.532850	0.18004	N	0.154810	T	0.74412	0.3713	L	0.33485	1.01	0.22796	N	0.998722	B	0.02656	0.0	B	0.04013	0.001	T	0.54576	-0.8273	10	0.09084	T	0.74	.	11.0659	0.47974	0.1846:0.8154:0.0:0.0	.	726	Q86WI1	PKHL1_HUMAN	E	726	ENSP00000367655:A726E	ENSP00000367655:A726E	A	+	2	0	PKHD1L1	110493761	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.799000	0.38824	2.429000	0.82318	0.485000	0.47835	GCA		PASS	0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		15	56	15	56	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113418957	113418957	+	Splice_Site	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr8:113418957C>A	ENST00000297405.5	-	35	5850		c.e35-1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAGGAACAGCTGTGTAGaaa	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Unknown(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.e35-1		CUB and Sushi multiple domains 3 isoform 1							64.0	60.0	61.0					8																	113418957		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113418957C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5606-1G>T	8.37:g.113418957C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Splice_Site_p.A1071_splice|CSMD3_uc003ynt.2_Splice_Site_p.A1829_splice|CSMD3_uc011lhx.1_Splice_Site_p.A1765_splice	p.A1869_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5765	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.5606_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343819	0.82022	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113488133	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.609000	0.82925	2.574000	0.86865	0.655000	0.94253	.		PASS	0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	24	85	24	85	---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26928209	26928209	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr9:26928209C>A	ENST00000397292.3	-	4	871	c.454G>T	c.(454-456)Gct>Tct	p.A152S	PLAA_ENST00000520884.1_Missense_Mutation_p.A152S	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	152					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)	p.A95S(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CACACTGCAGCTGTATGACCC	0.403																																					Melanoma(175;2670 2735 14091 35526)	uc003zqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GCT>TCT		phospholipase A2-activating protein							119.0	111.0	114.0					9																	26928209		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26928209C>A	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.454G>T	9.37:g.26928209C>A	ENSP00000380460:p.Ala152Ser					PLAA_uc003zqe.2_Missense_Mutation_p.A152S	p.A152S	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	4	879	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	152			WD 4.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.454G>T	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.115905|4.115905	0.77323|0.77323	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000523212	T;T|.	0.57907|.	0.37;0.37|.	5.78|5.78	5.78|5.78	0.91487|0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.28740|0.28740	0.885|0.885	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.992|.	D;P|.	0.67725|.	0.953;0.904|.	T|T	0.51926|0.51926	-0.8643|-0.8643	10|5	0.09843|.	T|.	0.71|.	-13.8804|-13.8804	20.0011|20.0011	0.97409|0.97409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	152;152|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	S|I	152|128	ENSP00000380460:A152S;ENSP00000429372:A152S|.	ENSP00000380460:A152S|.	A|S	-|-	1|2	0|0	PLAA|PLAA	26918209|26918209	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.487000|7.487000	0.81328|0.81328	2.727000|2.727000	0.93392|0.93392	0.585000|0.585000	0.79938|0.79938	GCT|AGC		PASS	0.403	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		30	97	30	97	---	---	---	---
GABBR2	9568	broad.mit.edu	37	9	101304211	101304211	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr9:101304211G>A	ENST00000259455.2	-	3	1033	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	192					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.H192Y(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CACTGGTAGTGCTTGAGCAAC	0.532																																						uc004ays.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(574-576)CAC>TAC		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						148.0	109.0	122.0					9																	101304211		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101304211G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.574C>T	9.37:g.101304211G>A	ENSP00000259455:p.His192Tyr						p.H192Y	NM_005458	NP_005449	O75899	GABR2_HUMAN			3	730	-		Acute lymphoblastic leukemia(62;0.0527)	192			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.574C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423332	0.25639	.	.	ENSG00000136928	ENST00000259455	T	0.23552	1.9	5.09	1.5	0.22942	Extracellular ligand-binding receptor (1);	0.391327	0.29293	N	0.012565	T	0.13970	0.0338	N	0.21508	0.67	0.41451	D	0.987988	B	0.02656	0.0	B	0.04013	0.001	T	0.12041	-1.0563	10	0.23302	T	0.38	-19.2813	7.6011	0.28077	0.4386:0.0:0.5614:0.0	.	192	O75899	GABR2_HUMAN	Y	192	ENSP00000259455:H192Y	ENSP00000259455:H192Y	H	-	1	0	GABBR2	100344032	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.815000	0.27253	0.239000	0.21243	0.655000	0.94253	CAC		PASS	0.532	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			43	46	43	46	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101797433	101797433	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr9:101797433C>G	ENST00000375001.3	+	18	2640	c.2217C>G	c.(2215-2217)ttC>ttG	p.F739L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	739	Nonhelical region 3 (NC3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.F739L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACTTGGATTCGAGGTACTTT	0.562																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2215-2217)TTC>TTG		alpha 1 type XV collagen precursor							73.0	79.0	77.0					9																	101797433		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797433C>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2217C>G	9.37:g.101797433C>G	ENSP00000364140:p.Phe739Leu						p.F739L	NM_001855	NP_001846	P39059	COFA1_HUMAN			18	2423	+		Acute lymphoblastic leukemia(62;0.0562)	739			Nonhelical region 3 (NC3).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2217C>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528225	0.44969	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.90133	-2.62	5.55	1.61	0.23674	.	0.249561	0.41194	D	0.000926	D	0.85852	0.5793	M	0.71206	2.165	0.35515	D	0.800934	B	0.19200	0.034	B	0.15052	0.012	T	0.75326	-0.3357	10	0.11182	T	0.66	-6.0075	7.3737	0.26817	0.0:0.262:0.0:0.738	.	739	P39059	COFA1_HUMAN	L	739;709	ENSP00000364140:F739L	ENSP00000364140:F739L	F	+	3	2	COL15A1	100837254	0.997000	0.39634	0.998000	0.56505	0.914000	0.54420	0.031000	0.13710	0.060000	0.16281	-0.459000	0.05422	TTC		PASS	0.562	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	226	5	226	---	---	---	---
IKBKAP	8518	broad.mit.edu	37	9	111656249	111656249	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr9:111656249T>C	ENST00000374647.5	-	26	3141	c.2834A>G	c.(2833-2835)aAa>aGa	p.K945R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.K596R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	945					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.K945R(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCCAATGGCTTTTTCATATCG	0.343																																						uc004bdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(2833-2835)AAA>AGA		inhibitor of kappa light polypeptide gene							175.0	165.0	168.0					9																	111656249		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111656249T>C	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2834A>G	9.37:g.111656249T>C	ENSP00000363779:p.Lys945Arg					IKBKAP_uc004bdl.2_Missense_Mutation_p.K596R|IKBKAP_uc011lwc.1_Missense_Mutation_p.K831R|IKBKAP_uc010mtq.2_Missense_Mutation_p.K596R|IKBKAP_uc004bdk.2_5'Flank|IKBKAP_uc010mtp.2_5'Flank	p.K945R	NM_003640	NP_003631	O95163	ELP1_HUMAN			26	3354	-			945					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.2834A>G	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818148	0.50633	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.32023	1.47;1.47	5.8	4.66	0.58398	.	0.106709	0.64402	D	0.000003	T	0.43743	0.1261	L	0.52905	1.665	0.36946	D	0.892624	D	0.57257	0.979	P	0.62089	0.898	T	0.46162	-0.9211	10	0.30854	T	0.27	-5.7177	9.8649	0.41136	0.0:0.0807:0.0:0.9193	.	945	O95163	ELP1_HUMAN	R	945;596	ENSP00000363779:K945R;ENSP00000439367:K596R	ENSP00000363779:K945R	K	-	2	0	IKBKAP	110696070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.009000	0.70745	1.036000	0.39998	0.477000	0.44152	AAA		PASS	0.343	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			41	59	41	59	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30318554	30318554	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr10:30318554T>C	ENST00000375377.1	-	3	624	c.523A>G	c.(523-525)Atg>Gtg	p.M175V		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	175					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.M175V(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGACCTGACATTCGCAATTCT	0.542																																						uc001iux.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(523-525)ATG>GTG		hypothetical protein LOC57608							256.0	252.0	253.0					10																	30318554		2095	4212	6307	SO:0001583	missense	57608							g.chr10:30318554T>C	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.523A>G	10.37:g.30318554T>C	ENSP00000364526:p.Met175Val					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.M37V|KIAA1462_uc009xle.1_Missense_Mutation_p.M175V	p.M175V	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	582	-			175					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.523A>G	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	T	3.029	-0.200012	0.06219	.	.	ENSG00000165757	ENST00000375377	T	0.11277	2.79	5.25	-0.0722	0.13740	.	0.575464	0.18479	N	0.139999	T	0.09202	0.0227	M	0.65975	2.015	0.09310	N	1	B	0.20459	0.045	B	0.22753	0.041	T	0.44817	-0.9303	10	0.07175	T	0.84	-7.301	5.8596	0.18738	0.0:0.3081:0.2414:0.4505	.	175	Q9P266	K1462_HUMAN	V	175	ENSP00000364526:M175V	ENSP00000364526:M175V	M	-	1	0	KIAA1462	30358560	0.040000	0.19996	0.092000	0.20876	0.006000	0.05464	0.727000	0.25999	0.002000	0.14630	-0.408000	0.06270	ATG		PASS	0.542	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		61	195	61	195	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85993952	85993952	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr10:85993952G>A	ENST00000372105.3	-	3	793	c.772C>T	c.(772-774)Cca>Tca	p.P258S		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	258			P -> Q (in dbSNP:rs7090059).			integral component of endoplasmic reticulum membrane (GO:0030176)		p.P258S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCACTCCTGGATGGAGCTCT	0.612																																						uc001kcz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)CCA>TCA		retina specific protein PAL							76.0	75.0	75.0					10																	85993952		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85993952G>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.772C>T	10.37:g.85993952G>A	ENSP00000361177:p.Pro258Ser						p.P258S	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			3	794	-			258			Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.772C>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	8.635	0.894517	0.17613	.	.	ENSG00000148602	ENST00000372105	T	0.26373	1.74	5.91	3.91	0.45181	Immunoglobulin-like (1);	0.048439	0.85682	D	0.000000	T	0.13157	0.0319	L	0.28400	0.85	0.39245	D	0.96393	B	0.19583	0.037	B	0.21360	0.034	T	0.10405	-1.0631	10	0.07175	T	0.84	.	3.6627	0.08245	0.0876:0.1218:0.5568:0.2338	.	258	Q9P2V4	LRIT1_HUMAN	S	258	ENSP00000361177:P258S	ENSP00000361177:P258S	P	-	1	0	LRIT1	85983932	1.000000	0.71417	0.456000	0.27044	0.413000	0.31143	4.552000	0.60747	1.500000	0.48636	0.655000	0.94253	CCA		PASS	0.612	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		11	137	11	137	---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95380397	95380397	+	Silent	SNP	T	T	C	rs143708538		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr10:95380397T>C	ENST00000371447.3	+	2	627	c.489T>C	c.(487-489)caT>caC	p.H163H		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	163	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.H163H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGAACAGCCATTTTTCTGACT	0.443																																						uc001kiu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(487-489)CAT>CAC		phosphodiesterase 6C		T		1,4405		0,1,2202	86.0	82.0	83.0		489	1.6	1.0	10	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	PDE6C	NM_006204.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		163/859	95380397	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95380397T>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.489T>C	10.37:g.95380397T>C							p.H163H	NM_006204	NP_006195	P51160	PDE6C_HUMAN			2	627	+		Colorectal(252;0.123)	163			GAF 1.		A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.489T>C	CCDS7429.1																																																																																				PASS	0.443	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		6	111	6	111	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903941	4903941	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:4903941C>A	ENST00000322049.1	+	1	812	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.P298Q			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P298Q(1)|p.P271Q(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTCCACCCCAAGGGTGCTC	0.493																																						uc010qyp.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(892-894)CCA>CAA		olfactory receptor, family 51, subfamily T,							115.0	102.0	106.0					11																	4903941		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903941C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.812C>A	11.37:g.4903941C>A	ENSP00000322679:p.Pro271Gln						p.P298Q	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	893	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	271			Extracellular (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.893C>A		.	.	.	.	.	.	.	.	.	.	C	18.35	3.604407	0.66445	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.71579	-0.58;-0.58	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000530	D	0.88533	0.6462	H	0.94582	3.555	0.46096	D	0.998867	D	0.89917	1.0	D	0.87578	0.998	D	0.91611	0.5303	10	0.87932	D	0	.	16.955	0.86257	0.0:1.0:0.0:0.0	.	271	Q8NGJ9	O51T1_HUMAN	Q	298;271	ENSP00000369738:P298Q;ENSP00000322679:P271Q	ENSP00000322679:P271Q	P	+	2	0	OR51T1	4860517	0.000000	0.05858	0.210000	0.23637	0.885000	0.51271	1.233000	0.32648	2.595000	0.87683	0.491000	0.48974	CCA		PASS	0.493	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		14	107	14	107	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142492	5142492	+	RNA	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:5142492C>T	ENST00000498233.1	-	0	906							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W106*(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTGGATGAGCCACATCTGAAA	0.453																																						uc001lzz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(316-318)TGG>TAG		olfactory receptor, family 52, subfamily A,							59.0	52.0	55.0					11																	5142492		2201	4298	6499			390053							g.chr11:5142492C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142492C>T						OR52A4_uc001maa.2_RNA	p.W106*	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	317	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Nonsense_Mutation	SNP	ENST00000498233.1	37	c.317G>A		.	.	.	.	.	.	.	.	.	.	C	13.64	2.296969	0.40594	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	3.3071	0.07003	0.3759:0.4153:0.0:0.2089	.	.	.	.	X	106	.	ENSP00000369727:W106X	W	-	2	0	OR52A4	5099068	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-1.393000	0.02521	0.603000	0.29913	0.650000	0.86243	TGG		PASS	0.453	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		12	50	12	50	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10821167	10821167	+	Silent	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:10821167T>C	ENST00000526148.1	-	19	2766	c.2256A>G	c.(2254-2256)aaA>aaG	p.K752K	EIF4G2_ENST00000339995.5_Silent_p.K752K|EIF4G2_ENST00000525681.1_Silent_p.K752K|EIF4G2_ENST00000396525.2_Silent_p.K714K|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.K752K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTTAATCCATTTATATATGG	0.368																																						uc001mjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2254-2256)AAA>AAG		eukaryotic translation initiation factor 4							137.0	135.0	136.0					11																	10821167		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821167T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2256A>G	11.37:g.10821167T>C						EIF4G2_uc001mjb.2_Silent_p.K546K|EIF4G2_uc009ygf.2_Silent_p.K546K|EIF4G2_uc001mjd.2_Silent_p.K714K	p.K752K	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2673	-			752			W2.			Silent	SNP	ENST00000526148.1	37	c.2256A>G	CCDS31428.1																																																																																				PASS	0.368	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		43	121	43	121	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17426064	17426064	+	Silent	SNP	C	C	T	rs144207158		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:17426064C>T	ENST00000389817.3	-	28	3620	c.3552G>A	c.(3550-3552)gcG>gcA	p.A1184A	ABCC8_ENST00000302539.4_Silent_p.A1185A			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1184	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.A1184A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ATCACCTGGACGCCACCCGGA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18541	0.001		0.0	False		,,,				2504	0.0					uc001mnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3550-3552)GCG>GCA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	C		1,4399	2.1+/-5.4	0,1,2199	89.0	75.0	80.0		3552	-1.5	1.0	11	dbSNP_134	80	0,8586		0,0,4293	no	coding-synonymous	ABCC8	NM_000352.3		0,1,6492	TT,TC,CC		0.0,0.0227,0.0077		1184/1582	17426064	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17426064C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3552G>A	11.37:g.17426064C>T							p.A1184A	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	28	3678	-			1184			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3552G>A	CCDS31437.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.64	1.407456	0.25378	2.27E-4	0.0	ENSG00000006071	ENST00000528374	.	.	.	5.32	-1.49	0.08718	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42068	-0.9473	4	.	.	.	.	6.407	0.21670	0.0:0.365:0.2371:0.3979	.	.	.	.	I	8	.	.	V	-	1	0	ABCC8	17382640	0.013000	0.17824	0.997000	0.53966	0.925000	0.55904	-1.241000	0.02911	-0.194000	0.10399	-0.492000	0.04666	GTC		PASS	0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		12	150	12	150	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22277035	22277035	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:22277035G>T	ENST00000324559.8	+	13	1616	c.1299G>T	c.(1297-1299)atG>atT	p.M433I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	433					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.M433I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGAAGCTATGTGTAAACACA	0.428																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1297-1299)ATG>ATT		anoctamin 5 isoform a							163.0	163.0	163.0					11																	22277035		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22277035G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1299G>T	11.37:g.22277035G>T	ENSP00000315371:p.Met433Ile					ANO5_uc001mqj.2_Missense_Mutation_p.M432I	p.M433I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			13	1616	+			433			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1299G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224027	0.39300	.	.	ENSG00000171714	ENST00000324559	T	0.62498	0.02	5.11	5.11	0.69529	.	0.081868	0.85682	D	0.000000	T	0.48660	0.1512	L	0.35341	1.055	0.30267	N	0.792601	B	0.14012	0.009	B	0.20384	0.029	T	0.44862	-0.9300	10	0.26408	T	0.33	.	9.8567	0.41090	0.1283:0.0:0.8717:0.0	.	433	Q75V66	ANO5_HUMAN	I	433	ENSP00000315371:M433I	ENSP00000315371:M433I	M	+	3	0	ANO5	22233611	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.885000	0.48570	2.372000	0.80975	0.563000	0.77884	ATG		PASS	0.428	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		58	199	58	199	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22384297	22384297	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:22384297G>A	ENST00000263160.3	+	6	1111	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	225					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.G225K(1)|p.G225E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCCTATGCCGGAGCTGTGATT	0.398																																						uc001mqk.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|breast(1)	4						c.(673-675)GGA>GAA		solute carrier family 17 (sodium-dependent							234.0	197.0	210.0					11																	22384297		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22384297G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.674G>A	11.37:g.22384297G>A	ENSP00000263160:p.Gly225Glu						p.G225E	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			6	1087	+			225			Helical; (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.674G>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424388	0.83667	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.77877	-1.13	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95459	0.8541	10	0.87932	D	0	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	225	Q9P2U8	VGLU2_HUMAN	E	225;113	ENSP00000263160:G225E	ENSP00000263160:G225E	G	+	2	0	SLC17A6	22340873	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.813000	0.99286	2.765000	0.95021	0.650000	0.86243	GGA		PASS	0.398	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		28	90	28	90	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55340171	55340171	+	Missense_Mutation	SNP	A	A	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:55340171A>C	ENST00000314634.3	+	1	568	c.568A>C	c.(568-570)Acc>Ccc	p.T190P		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T190P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTGTTCAGAAACCTATGTGGT	0.433																																						uc010rih.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(568-570)ACC>CCC		olfactory receptor, family 4, subfamily C,							94.0	90.0	91.0					11																	55340171		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340171A>C	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.568A>C	11.37:g.55340171A>C	ENSP00000324913:p.Thr190Pro						p.T190P	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	568	+		all_epithelial(135;0.0748)	190			Extracellular (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.568A>C	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.763480	0.31228	.	.	ENSG00000181935	ENST00000314634	T	0.00245	8.45	4.98	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00524	0.0017	M	0.83953	2.67	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.33007	-0.9885	10	0.87932	D	0	.	9.3671	0.38230	0.8401:0.0:0.0:0.1599	.	190	Q8NGL9	OR4CG_HUMAN	P	190	ENSP00000324913:T190P	ENSP00000324913:T190P	T	+	1	0	OR4C16	55096747	0.029000	0.19370	0.036000	0.18154	0.224000	0.24922	1.366000	0.34193	0.904000	0.36572	0.448000	0.29417	ACC		PASS	0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		34	148	34	148	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406404	55406404	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:55406404C>A	ENST00000314612.2	+	1	571	c.571C>A	c.(571-573)Cac>Aac	p.H191N		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H191N(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTCTAATATACACATGATAGG	0.358																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(571-573)CAC>AAC		olfactory receptor, family 4, subfamily P,							114.0	92.0	100.0					11																	55406404		2178	4012	6190	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406404C>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.571C>A	11.37:g.55406404C>A	ENSP00000324831:p.His191Asn						p.H191N	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	571	+			191			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.571C>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	4.080	0.012768	0.07912	.	.	ENSG00000181927	ENST00000314612	T	0.00099	8.73	5.51	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	2.010100	0.02414	N	0.081931	T	0.00210	0.0006	L	0.46947	1.48	0.09310	N	1	B	0.21225	0.053	B	0.33121	0.158	T	0.47935	-0.9078	10	0.66056	D	0.02	-1.6975	4.9692	0.14105	0.2912:0.549:0.0:0.1598	.	191	Q8NGL7	OR4P4_HUMAN	N	191	ENSP00000324831:H191N	ENSP00000324831:H191N	H	+	1	0	OR4P4	55162980	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-5.149000	0.00146	0.685000	0.31468	-0.154000	0.13518	CAC		PASS	0.358	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		31	48	31	48	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418601	55418601	+	Silent	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:55418601C>G	ENST00000312422.2	+	1	222	c.222C>G	c.(220-222)gtC>gtG	p.V74V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V74V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACTCTTCAGTCACAGCTCCCA	0.428																																						uc001nhs.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(220-222)GTC>GTG		olfactory receptor, family 4, subfamily S,							243.0	196.0	212.0					11																	55418601		2182	4046	6228	SO:0001819	synonymous_variant	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418601C>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.222C>G	11.37:g.55418601C>G							p.V74V	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	222	+		all_epithelial(135;0.0748)	74			Helical; Name=2; (Potential).		Q6IF72	Silent	SNP	ENST00000312422.2	37	c.222C>G	CCDS31505.1																																																																																				PASS	0.428	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		76	110	76	110	---	---	---	---
TRIM51	84767	broad.mit.edu	37	11	55657502	55657502	+	Silent	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:55657502C>A	ENST00000449290.2	+	6	938	c.846C>A	c.(844-846)ctC>ctA	p.L282L	TRIM51_ENST00000244891.3_Silent_p.L139L	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	282	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L123L(1)|p.L282L(1)									TGGACAGCCTCAGTGGATTCA	0.493																																						uc010rip.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(844-846)CTC>CTA		SPRY domain containing 5							52.0	47.0	48.0					11																	55657502		2201	4295	6496	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55657502C>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.846C>A	11.37:g.55657502C>A						SPRYD5_uc010riq.1_Silent_p.L139L	p.L282L	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			6	938	+		all_epithelial(135;0.226)	282			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.846C>A																																																																																					PASS	0.493	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		16	70	16	70	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798382	55798382	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:55798382C>T	ENST00000313555.1	+	1	488	c.488C>T	c.(487-489)aCa>aTa	p.T163I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T163I(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTGTGCCTCACATTCAGGCTG	0.433																																						uc010riw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(487-489)ACA>ATA		olfactory receptor, family 5, subfamily AS,							263.0	244.0	251.0					11																	55798382		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798382C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.488C>T	11.37:g.55798382C>T	ENSP00000324111:p.Thr163Ile						p.T163I	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	488	+	Esophageal squamous(21;0.00693)		163			Extracellular (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.488C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020631	0.19433	.	.	ENSG00000181785	ENST00000313555	T	0.00258	8.41	5.46	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.477643	0.15524	U	0.257893	T	0.00109	0.0003	N	0.10733	0.035	0.09310	N	1	B	0.21071	0.051	B	0.17722	0.019	T	0.14172	-1.0482	10	0.39692	T	0.17	.	6.2353	0.20760	0.0:0.6722:0.0:0.3278	.	163	Q8N127	O5AS1_HUMAN	I	163	ENSP00000324111:T163I	ENSP00000324111:T163I	T	+	2	0	OR5AS1	55554958	0.000000	0.05858	0.133000	0.22050	0.687000	0.40016	-0.004000	0.12878	1.298000	0.44778	0.643000	0.83706	ACA		PASS	0.433	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		52	281	52	281	---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58275211	58275211	+	Missense_Mutation	SNP	G	G	A	rs148173637	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:58275211G>A	ENST00000360374.2	-	1	367	c.368C>T	c.(367-369)gCg>gTg	p.A123V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A123V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCTACATACCGCTGCATGGCG	0.527													G|||	13	0.00259585	0.0	0.0	5008	,	,		21461	0.001		0.0	False		,,,				2504	0.0123					uc010rki.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)	3						c.(367-369)GCG>GTG		olfactory receptor, family 5, subfamily B,		G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	128.0	96.0	107.0		368	4.2	0.5	11	dbSNP_134	107	0,8590		0,0,4295	no	missense	OR5B21	NM_001005218.1	64	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	123/310	58275211	1,12991	2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275211G>A		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.368C>T	11.37:g.58275211G>A	ENSP00000353537:p.Ala123Val						p.A123V	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	368	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	123			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.368C>T	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128195	0.56721	2.27E-4	0.0	ENSG00000198283	ENST00000360374	T	0.01228	5.14	5.07	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36703	U	0.002446	T	0.08670	0.0215	H	0.95745	3.715	0.40794	D	0.98328	D	0.71674	0.998	P	0.52454	0.699	T	0.03957	-1.0989	10	0.87932	D	0	-6.2997	12.3366	0.55071	0.0821:0.0:0.9179:0.0	.	123	A6NL26	OR5BL_HUMAN	V	123	ENSP00000353537:A123V	ENSP00000353537:A123V	A	-	2	0	OR5B21	58031787	1.000000	0.71417	0.489000	0.27452	0.061000	0.15899	4.602000	0.61098	1.376000	0.46267	0.655000	0.94253	GCG		PASS	0.527	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		12	54	12	54	---	---	---	---
CD5	921	broad.mit.edu	37	11	60885660	60885660	+	Silent	SNP	G	G	A	rs141935047		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:60885660G>A	ENST00000347785.3	+	3	274	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	36	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.R36R(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCAGGCAAGGCTCACCCGTT	0.642																																						uc009ynk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(106-108)AGG>AGA		CD5 molecule precursor		G		2,4404	4.2+/-10.8	0,2,2201	92.0	97.0	95.0		108	-1.9	0.0	11	dbSNP_134	95	0,8598		0,0,4299	no	coding-synonymous	CD5	NM_014207.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		36/496	60885660	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885660G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.108G>A	11.37:g.60885660G>A							p.R36R	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	3	211	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	36			Extracellular (Potential).|SRCR 1.		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.108G>A	CCDS8000.1																																																																																				PASS	0.642	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		38	132	38	132	---	---	---	---
TUT1	64852	broad.mit.edu	37	11	62342847	62342847	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:62342847G>T	ENST00000476907.1	-	9	3035	c.2344C>A	c.(2344-2346)Cgt>Agt	p.R782S	EEF1G_ENST00000532986.1_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.R820S|EEF1G_ENST00000378019.3_5'Flank|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000329251.4_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	782					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.R782S(1)|p.R820S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGCGTCTACGGGCTCGCCGC	0.667																																						uc001nto.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(2458-2460)CGT>AGT		terminal uridylyl transferase 1, U6							61.0	64.0	63.0					11																	62342847		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62342847G>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2344C>A	11.37:g.62342847G>T	ENSP00000419607:p.Arg782Ser					EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.R316S	p.R820S	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			9	2496	-			782					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.2458C>A		.	.	.	.	.	.	.	.	.	.	G	19.85	3.903059	0.72754	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.56444	0.46;0.48	4.84	4.84	0.62591	.	0.113529	0.56097	D	0.000027	T	0.67739	0.2925	M	0.68952	2.095	0.38732	D	0.953688	D;D	0.89917	1.0;1.0	D;D	0.75484	0.97;0.986	T	0.72600	-0.4244	10	0.87932	D	0	-7.6976	10.5134	0.44874	0.0:0.0:0.807:0.193	.	782;820	Q9H6E5;F5H0R1	STPAP_HUMAN;.	S	820;782	ENSP00000308000:R820S;ENSP00000419607:R782S	ENSP00000308000:R820S	R	-	1	0	TUT1	62099423	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	4.359000	0.59449	2.514000	0.84764	0.655000	0.94253	CGT		PASS	0.667	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		23	100	23	100	---	---	---	---
LGALS12	85329	broad.mit.edu	37	11	63277350	63277350	+	Missense_Mutation	SNP	T	T	C	rs80310877		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:63277350T>C	ENST00000394618.3	+	4	830	c.539T>C	c.(538-540)gTt>gCt	p.V180A	LGALS12_ENST00000415491.2_Missense_Mutation_p.V119A|LGALS12_ENST00000425950.2_Missense_Mutation_p.V119A|LGALS12_ENST00000255684.5_Missense_Mutation_p.V180A|LGALS12_ENST00000340246.5_Missense_Mutation_p.V181A	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	180	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.V180A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTAGAGGCTGTTGGATTCCTG	0.552																																						uc001nxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(538-540)GTT>GCT		lectin, galactoside-binding, soluble, 12 isoform							133.0	112.0	119.0					11																	63277350		2201	4298	6499	SO:0001583	missense	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63277350T>C	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.539T>C	11.37:g.63277350T>C	ENSP00000378116:p.Val180Ala					LGALS12_uc001nxb.2_Missense_Mutation_p.V180A|LGALS12_uc001nxc.2_Missense_Mutation_p.V181A|LGALS12_uc001nxd.2_Missense_Mutation_p.V119A|LGALS12_uc001nxe.2_Missense_Mutation_p.V119A|LGALS12_uc009yot.2_Missense_Mutation_p.V140A	p.V180A	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			4	880	+			180			Galectin 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	c.539T>C	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966988	0.53507	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.26067	1.76;1.76;2.42;3.07;3.07	5.41	4.29	0.51040	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.261873	0.26609	N	0.023430	T	0.40767	0.1130	M	0.65498	2.005	0.19775	N	0.999953	P;P;D;P	0.54397	0.939;0.948;0.966;0.892	P;P;P;B	0.58577	0.67;0.562;0.841;0.389	T	0.20706	-1.0267	10	0.45353	T	0.12	-9.5039	9.138	0.36886	0.0:0.0863:0.0:0.9137	.	140;181;180;180	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	A	180;180;181;119;119	ENSP00000255684:V180A;ENSP00000378116:V180A;ENSP00000339374:V181A;ENSP00000394659:V119A;ENSP00000399093:V119A	ENSP00000255684:V180A	V	+	2	0	LGALS12	63033926	0.056000	0.20664	0.343000	0.25615	0.818000	0.46254	2.130000	0.42064	0.901000	0.36495	0.418000	0.28097	GTT		PASS	0.552	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		9	43	9	43	---	---	---	---
CDCA5	113130	broad.mit.edu	37	11	64846928	64846928	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:64846928G>C	ENST00000275517.3	-	5	747	c.575C>G	c.(574-576)cCc>cGc	p.P192R	CDCA5_ENST00000404147.3_Missense_Mutation_p.P192R	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	192					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.P192R(1)		large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ACAAACCCTGGGGACCTCGGT	0.597																																						uc001ocp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)CCC>CGC		cell division cycle associated 5							63.0	70.0	68.0					11																	64846928		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64846928G>C	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.575C>G	11.37:g.64846928G>C	ENSP00000275517:p.Pro192Arg						p.P192R	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN			5	740	-			192					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.575C>G	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853907	0.51270	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.41400	1.0;1.0	5.52	4.6	0.57074	.	0.504675	0.22458	N	0.059786	T	0.57548	0.2061	M	0.70595	2.14	0.09310	N	1	D	0.54772	0.968	P	0.58331	0.837	T	0.52808	-0.8526	10	0.51188	T	0.08	.	12.3747	0.55273	0.0824:0.0:0.9176:0.0	.	192	Q96FF9	CDCA5_HUMAN	R	192	ENSP00000275517:P192R;ENSP00000385711:P192R	ENSP00000275517:P192R	P	-	2	0	CDCA5	64603504	0.935000	0.31712	0.020000	0.16555	0.063000	0.16089	3.786000	0.55431	1.330000	0.45394	0.644000	0.83932	CCC		PASS	0.597	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		23	90	23	90	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412491	77412491	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:77412491A>G	ENST00000308488.6	-	6	2085	c.1783T>C	c.(1783-1785)Ttt>Ctt	p.F595L	RSF1_ENST00000360355.2_Missense_Mutation_p.F564L|RSF1_ENST00000480887.1_Missense_Mutation_p.F343L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	595					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.F595L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTATCAAGAAAAGTCTTTTTG	0.428																																						uc001oyn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1783-1785)TTT>CTT		remodeling and spacing factor 1							146.0	147.0	146.0					11																	77412491		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412491A>G	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1783T>C	11.37:g.77412491A>G	ENSP00000311513:p.Phe595Leu					RSF1_uc001oym.2_Missense_Mutation_p.F343L	p.F595L	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1903	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		595					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1783T>C	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	A	0.223	-1.027078	0.02045	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.84070	-1.8;-1.8;-1.8;-1.8;1.57	5.1	1.24	0.21308	.	0.494595	0.19038	N	0.124375	T	0.63070	0.2480	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.10111	T	0.7	-2.1094	4.46	0.11661	0.6038:0.0:0.1805:0.2157	.	595	Q96T23	RSF1_HUMAN	L	595;343;564;396;594	ENSP00000311513:F595L;ENSP00000434509:F343L;ENSP00000353511:F564L;ENSP00000432022:F396L;ENSP00000436408:F594L	ENSP00000311513:F595L	F	-	1	0	RSF1	77090139	0.014000	0.17966	0.872000	0.34217	0.904000	0.53231	0.743000	0.26231	0.419000	0.25927	0.459000	0.35465	TTT		PASS	0.428	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		54	204	54	204	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92086219	92086219	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:92086219T>C	ENST00000298047.6	+	1	958	c.941T>C	c.(940-942)cTg>cCg	p.L314P	FAT3_ENST00000409404.2_Missense_Mutation_p.L314P|FAT3_ENST00000525166.1_Missense_Mutation_p.L164P|FAT3_ENST00000541502.1_Missense_Mutation_p.L314P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L314P(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTTCTTCCTGGCTAAGGAA	0.448										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(940-942)CTG>CCG		FAT tumor suppressor homolog 3							82.0	76.0	78.0					11																	92086219		1955	4150	6105	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086219T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.941T>C	11.37:g.92086219T>C	ENSP00000298047:p.Leu314Pro	TCGA Ovarian(4;0.039)					p.L314P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	958	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	314			Cadherin 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.941T>C		.	.	.	.	.	.	.	.	.	.	T	14.92	2.679896	0.47886	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.2	5.2	0.72013	.	.	.	.	.	T	0.75496	0.3857	M	0.89214	3.015	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	T	0.79577	-0.1746	9	0.62326	D	0.03	.	9.8754	0.41200	0.1524:0.0:0.0:0.8476	.	314	Q8TDW7-3	.	P	314;314;314;164	ENSP00000298047:L314P;ENSP00000387040:L314P;ENSP00000443786:L314P;ENSP00000432586:L164P	ENSP00000298047:L314P	L	+	2	0	FAT3	91725867	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.085000	0.71343	2.076000	0.62316	0.455000	0.32223	CTG		PASS	0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		12	35	12	35	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533104	92533104	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:92533104G>T	ENST00000298047.6	+	9	6942	c.6925G>T	c.(6925-6927)Gtt>Ttt	p.V2309F	FAT3_ENST00000409404.2_Missense_Mutation_p.V2309F|FAT3_ENST00000525166.1_Missense_Mutation_p.V2159F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2309	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2309F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTTTTACAAGTTGTCTCTAT	0.363										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6925-6927)GTT>TTT		FAT tumor suppressor homolog 3							80.0	72.0	75.0					11																	92533104		1886	4105	5991	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533104G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6925G>T	11.37:g.92533104G>T	ENSP00000298047:p.Val2309Phe	TCGA Ovarian(4;0.039)					p.V2309F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6942	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2309			Cadherin 21.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6925G>T		.	.	.	.	.	.	.	.	.	.	G	18.52	3.641928	0.67244	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.57595	0.39;0.39;0.39	5.94	5.02	0.67125	.	.	.	.	.	T	0.74183	0.3683	H	0.96301	3.8	0.80722	D	1	P	0.52316	0.952	P	0.49226	0.603	D	0.84308	0.0509	9	0.72032	D	0.01	.	16.8157	0.85733	0.0:0.1328:0.8671:0.0	.	2309	Q8TDW7-3	.	F	2309;2309;2159	ENSP00000298047:V2309F;ENSP00000387040:V2309F;ENSP00000432586:V2159F	ENSP00000298047:V2309F	V	+	1	0	FAT3	92172752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.627000	0.74258	1.481000	0.48307	0.650000	0.86243	GTT		PASS	0.363	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	25	7	25	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113860284	113860284	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:113860284G>T	ENST00000504030.2	+	9	1681	c.1236G>T	c.(1234-1236)tcG>tcT	p.S412S	HTR3A_ENST00000375498.2_Silent_p.S418S|HTR3A_ENST00000506841.2_Silent_p.S444S|HTR3A_ENST00000535865.1_Silent_p.S156S|HTR3A_ENST00000355556.2_Silent_p.S450S|HTR3A_ENST00000299961.5_Silent_p.S397S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	412					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.S444S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GGGAGGCCTCGCTGGCGGTGT	0.652																																						uc010rxb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1348-1350)TCG>TCT		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						60.0	67.0	65.0					11																	113860284		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860284G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1236G>T	11.37:g.113860284G>T						HTR3A_uc010rxa.1_Silent_p.S418S|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.S397S	p.S450S	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1583	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	412			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1350G>T																																																																																					PASS	0.652	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		37	132	37	132	---	---	---	---
CRTAM	56253	broad.mit.edu	37	11	122720812	122720812	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:122720812T>A	ENST00000227348.4	+	2	130	c.83T>A	c.(82-84)gTg>gAg	p.V28E		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.V28E(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ACCATCACCGTGGAGGAAGGC	0.522																																						uc001pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)GTG>GAG		class-I MHC-restricted T cell associated							102.0	98.0	99.0					11																	122720812		2202	4299	6501	SO:0001583	missense	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122720812T>A	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.83T>A	11.37:g.122720812T>A	ENSP00000227348:p.Val28Glu						p.V28E	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	83	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	28			Ig-like V-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000227348.4	37	c.83T>A	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366678	0.82463	.	.	ENSG00000109943	ENST00000227348	T	0.71698	-0.59	5.29	5.29	0.74685	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.295327	0.27139	N	0.020744	D	0.85682	0.5753	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.88322	0.2963	10	0.87932	D	0	.	13.1945	0.59730	0.0:0.0:0.0:1.0	.	28	O95727	CRTAM_HUMAN	E	28	ENSP00000227348:V28E	ENSP00000227348:V28E	V	+	2	0	CRTAM	122226022	1.000000	0.71417	0.878000	0.34440	0.972000	0.66771	4.571000	0.60879	1.990000	0.58119	0.528000	0.53228	GTG		PASS	0.522	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		12	72	12	72	---	---	---	---
Unknown	0	broad.mit.edu	37	11	124095817	124095817	+	IGR	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr11:124095817C>A								OR10D3 (38865 upstream) : OR8G1 (24605 downstream)																							TTGCCATCTGCAGCCCCTTGC	0.463																																						uc010saf.1																			0					0						c.(418-420)TGC>TGA		olfactory receptor, family 8, subfamily G,							200.0	200.0	200.0					11																	124095817		2170	4295	6465	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095817C>A																													11.37:g.124095817C>A							p.C140*	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	420	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	140						Nonsense_Mutation	SNP		37	c.420C>A																																																																																				0	PASS	0.463									64	255	64	255	---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7362674	7362674	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:7362674C>T	ENST00000455147.2	+	17	2355	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	PEX5_ENST00000266564.3_Missense_Mutation_p.P584L|PEX5_ENST00000434354.2_Missense_Mutation_p.P607L|PEX5_ENST00000266563.5_Missense_Mutation_p.P555L|PEX5_ENST00000412720.2_Missense_Mutation_p.P613L|PEX5_ENST00000420616.2_Missense_Mutation_p.P592L	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	592					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.P584L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AGCCGGGGCCCCCGGGGTGAA	0.572																																						uc009zfu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1774-1776)CCC>CTC		peroxisomal biogenesis factor 5 isoform d							46.0	49.0	48.0					12																	7362674		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7362674C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1775C>T	12.37:g.7362674C>T	ENSP00000400647:p.Pro592Leu					PEX5_uc001qsw.2_Missense_Mutation_p.P592L|PEX5_uc010sgc.1_Missense_Mutation_p.P607L|PEX5_uc001qsu.2_Missense_Mutation_p.P555L|PEX5_uc010sgd.1_Missense_Mutation_p.P613L|PEX5_uc001qsv.2_Missense_Mutation_p.P584L	p.P592L	NM_001131026	NP_001124498	P50542	PEX5_HUMAN			17	2355	+			592					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.1775C>T	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280350	0.80692	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.95	4.95	0.65309	.	0.062215	0.64402	D	0.000003	T	0.75354	0.3838	L	0.58101	1.795	0.80722	D	1	P;B;P;B;B	0.47762	0.9;0.103;0.715;0.153;0.001	B;B;B;B;B	0.39531	0.302;0.031;0.227;0.066;0.019	T	0.80091	-0.1527	10	0.59425	D	0.04	.	18.3665	0.90392	0.0:1.0:0.0:0.0	.	613;607;592;584;555	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	L	592;555;607;592;613;584	ENSP00000400647:P592L;ENSP00000266563:P555L;ENSP00000407401:P607L;ENSP00000410159:P592L;ENSP00000391601:P613L;ENSP00000266564:P584L	ENSP00000266563:P555L	P	+	2	0	PEX5	7253941	0.963000	0.33076	1.000000	0.80357	0.982000	0.71751	3.728000	0.54991	2.582000	0.87167	0.561000	0.74099	CCC		PASS	0.572	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		13	84	13	84	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546368	11546368	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:11546368G>A	ENST00000389362.4	-	3	679	c.644C>T	c.(643-645)cCc>cTc	p.P215L	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	215	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P194L(1)|p.P215L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGTGGGGGACCTTGAGG	0.612																																						uc010shk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(643-645)CCC>CTC		proline-rich protein BstNI subfamily 2							83.0	106.0	98.0					12																	11546368		2089	4166	6255	SO:0001583	missense	653247							g.chr12:11546368G>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.644C>T	12.37:g.11546368G>A	ENSP00000374013:p.Pro215Leu						p.P215L	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	679	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.644C>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	7.181	0.589518	0.13812	.	.	ENSG00000121335	ENST00000389362	T	0.11712	2.75	1.23	-2.46	0.06461	.	0.655227	0.11453	U	0.562539	T	0.10380	0.0254	M	0.68952	2.095	0.09310	N	1	B	0.24426	0.103	B	0.12156	0.007	T	0.29579	-1.0007	10	0.29301	T	0.29	.	7.6023	0.28083	0.0:0.3036:0.6963:0.0	.	215	P02812	PRB2_HUMAN	L	215	ENSP00000374013:P215L	ENSP00000374013:P215L	P	-	2	0	PRB2	11437635	0.001000	0.12720	0.004000	0.12327	0.506000	0.33950	-0.469000	0.06648	-0.382000	0.07870	0.175000	0.17021	CCC		PASS	0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		57	369	57	369	---	---	---	---
BCL2L14	79370	broad.mit.edu	37	12	12232614	12232614	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:12232614G>T	ENST00000308721.5	+	2	581	c.375G>T	c.(373-375)tcG>tcT	p.S125S	BCL2L14_ENST00000396367.1_Silent_p.S125S|BCL2L14_ENST00000396369.1_Silent_p.S125S|BCL2L14_ENST00000266434.4_Silent_p.S125S|BCL2L14_ENST00000586576.1_Silent_p.S158S|BCL2L14_ENST00000589718.1_Silent_p.S125S	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	125					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.S125S(3)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ACCAAGATTCGCACAGCCAGC	0.512																																						uc001rac.2																			3	Substitution - coding silent(3)		lung(3)	skin(1)	1						c.(373-375)TCG>TCT		BCL2-like 14 isoform 1							115.0	107.0	110.0					12																	12232614		2203	4300	6503	SO:0001819	synonymous_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12232614G>T	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.375G>T	12.37:g.12232614G>T						ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Silent_p.S125S|BCL2L14_uc001rae.2_Silent_p.S125S	p.S125S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	576	+		Prostate(47;0.0872)	125					A8KAD0|Q96QR5|Q9BZR7	Silent	SNP	ENST00000308721.5	37	c.375G>T	CCDS8645.1																																																																																				PASS	0.512	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		24	211	24	211	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14949741	14949741	+	Splice_Site	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:14949741C>T	ENST00000261167.2	-	5	620	c.387G>A	c.(385-387)aaG>aaA	p.K129K		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	129					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.K129K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCTTGATTACCTTGACAGCAT	0.333																																						uc001rci.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(385-387)AAG>AAA		WW domain binding protein 11							97.0	93.0	94.0					12																	14949741		2203	4299	6502	SO:0001630	splice_region_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14949741C>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.387+1G>A	12.37:g.14949741C>T							p.K129K	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			5	548	-			129			Potential.		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.387G>A	CCDS8666.1																																																																																				PASS	0.333	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	Silent	39	90	39	90	---	---	---	---
GALNT6	11226	broad.mit.edu	37	12	51759273	51759273	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:51759273G>A	ENST00000543196.2	-	4	960	c.755C>T	c.(754-756)gCc>gTc	p.A252V	GALNT6_ENST00000356317.3_Missense_Mutation_p.A252V			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	252	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A252V(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGCAGCCGGGCGGTGATCAG	0.657																																						uc001ryk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(754-756)GCC>GTC		polypeptide N-acetylgalactosaminyltransferase 6							76.0	67.0	70.0					12																	51759273		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51759273G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.755C>T	12.37:g.51759273G>A	ENSP00000444171:p.Ala252Val					GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.A252V	p.A252V	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			4	980	-			252			Catalytic subdomain A.|Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.755C>T	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796454	0.90453	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.72505	-0.66;-0.66	3.83	2.9	0.33743	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.88876	0.6556	H	0.98133	4.155	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91604	0.5297	10	0.87932	D	0	.	12.176	0.54186	0.0:0.0:0.827:0.173	.	252	Q8NCL4	GALT6_HUMAN	V	252;252;233	ENSP00000444171:A252V;ENSP00000348668:A252V	ENSP00000348668:A252V	A	-	2	0	GALNT6	50045540	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.465000	0.97660	1.154000	0.42482	0.561000	0.74099	GCC		PASS	0.657	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		25	87	25	87	---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52452502	52452502	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:52452502T>G	ENST00000243050.1	+	8	1885	c.1571T>G	c.(1570-1572)gTg>gGg	p.V524G	NR4A1_ENST00000394824.2_Missense_Mutation_p.V524G|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.V524G|NR4A1_ENST00000550082.1_Missense_Mutation_p.V537G|NR4A1_ENST00000360284.3_Missense_Mutation_p.V537G|NR4A1_ENST00000545748.1_Missense_Mutation_p.V578G	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	524					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V524G(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCGCGGCGGGTGGAGGAGCTG	0.682																																						uc001rzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1570-1572)GTG>GGG		nuclear receptor subfamily 4, group A, member 1							9.0	11.0	11.0					12																	52452502		2183	4272	6455	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52452502T>G	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1571T>G	12.37:g.52452502T>G	ENSP00000243050:p.Val524Gly					NR4A1_uc010sno.1_Missense_Mutation_p.V537G|NR4A1_uc001rzt.2_Missense_Mutation_p.V524G|NR4A1_uc009zmc.2_Missense_Mutation_p.W138G	p.V524G	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	8	1885	+			524					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1571T>G	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437446	0.83885	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	4.86	4.86	0.63082	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.064445	0.64402	D	0.000010	D	0.83547	0.5278	M	0.94021	3.485	0.80722	D	1	D;D	0.63046	0.985;0.992	D;D	0.83275	0.991;0.996	D	0.87853	0.2659	10	0.87932	D	0	.	13.8866	0.63712	0.0:0.0:0.0:1.0	.	537;524	B4DML7;P22736	.;NR4A1_HUMAN	G	537;578;537;524;524;524	ENSP00000353427:V537G;ENSP00000440864:V578G;ENSP00000449539:V537G;ENSP00000243050:V524G;ENSP00000378302:V524G;ENSP00000378301:V524G	ENSP00000243050:V524G	V	+	2	0	NR4A1	50738769	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.999000	0.70665	2.186000	0.69663	0.528000	0.53228	GTG		PASS	0.682	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			5	7	5	7	---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53045439	53045439	+	Missense_Mutation	SNP	A	A	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:53045439A>G	ENST00000309680.3	-	1	509	c.488T>C	c.(487-489)cTc>cCc	p.L163P		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	163	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.L163P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTCACGTTGAGAGGCTGCAG	0.532																																						uc001sat.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(487-489)CTC>CCC		keratin 2							129.0	128.0	128.0					12																	53045439		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045439A>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.488T>C	12.37:g.53045439A>G	ENSP00000310861:p.Leu163Pro						p.L163P	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	521	-			163			Head.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.488T>C	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528713	0.64860	.	.	ENSG00000172867	ENST00000309680	D	0.86562	-2.14	5.54	4.39	0.52855	.	.	.	.	.	D	0.94604	0.8261	M	0.93638	3.44	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.94924	0.8076	9	0.87932	D	0	.	11.7076	0.51605	0.9307:0.0:0.0693:0.0	.	163	P35908	K22E_HUMAN	P	163	ENSP00000310861:L163P	ENSP00000310861:L163P	L	-	2	0	KRT2	51331706	0.547000	0.26465	0.777000	0.31699	0.928000	0.56348	5.311000	0.65786	1.054000	0.40438	0.533000	0.62120	CTC		PASS	0.532	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		42	140	42	140	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53899892	53899892	+	IGR	SNP	G	G	A	rs140535249		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:53899892G>A	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000456234.2_Missense_Mutation_p.R333H|TARBP2_ENST00000394357.2_Missense_Mutation_p.R333H|TARBP2_ENST00000266987.2_Missense_Mutation_p.R354H	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)	p.R354H(1)		haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GCTGCCCGCCGTGCCCTGCAG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19248	0.001		0.0	False		,,,				2504	0.0					uc001sdo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1060-1062)CGT>CAT		TAR RNA binding protein 2 isoform a		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36.0	35.0	35.0		998,1061,998	2.6	1.0	12	dbSNP_134	35	1,8597		0,1,4298	no	missense,missense,missense	TARBP2	NM_004178.4,NM_134323.1,NM_134324.2	29,29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	333/346,354/367,333/346	53899892	1,13003	2203	4299	6502	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53899892G>A	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899892G>A						TARBP2_uc001sdp.2_Missense_Mutation_p.R333H|TARBP2_uc001sdq.2_Missense_Mutation_p.R210H|TARBP2_uc001sdr.2_Missense_Mutation_p.R210H|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Missense_Mutation_p.R333H|TARBP2_uc001sdu.2_Missense_Mutation_p.R210H|TARBP2_uc001sdv.2_RNA	p.R354H	NM_134323	NP_599150	Q15633	TRBP2_HUMAN			9	1549	+			354			Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.1061G>A	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978777	0.53720	0.0	1.16E-4	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.82619	-1.63;-1.63;-1.63	5.15	2.57	0.30868	Double-stranded RNA-binding (2);	0.173557	0.49305	N	0.000144	T	0.62466	0.2430	N	0.08118	0	0.37538	D	0.918215	B	0.10296	0.003	B	0.04013	0.001	T	0.58549	-0.7617	10	0.49607	T	0.09	-36.3413	4.9276	0.13901	0.509:0.0:0.491:0.0	.	354	Q15633	TRBP2_HUMAN	H	354;333;333	ENSP00000266987:R354H;ENSP00000416077:R333H;ENSP00000377885:R333H	ENSP00000266987:R354H	R	+	2	0	TARBP2	52186159	0.997000	0.39634	0.991000	0.47740	0.995000	0.86356	3.097000	0.50251	1.055000	0.40461	0.491000	0.48974	CGT		PASS	0.632	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		8	34	8	34	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65449838	65449838	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:65449838C>A	ENST00000286574.4	-	8	1269	c.895G>T	c.(895-897)Ggt>Tgt	p.G299C		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	299	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.G299C(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CCCTGGTAACCTTTGGAACAC	0.438			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(895-897)GGT>TGT		WNT inhibitory factor 1 precursor							233.0	179.0	197.0					12																	65449838		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65449838C>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.895G>T	12.37:g.65449838C>A	ENSP00000286574:p.Gly299Cys						p.G299C	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	8	1040	-			299			EGF-like 4.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.895G>T	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451988	0.84209	.	.	ENSG00000156076	ENST00000286574	T	0.13307	2.6	5.33	5.33	0.75918	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77477	-0.2573	9	.	.	.	.	19.4186	0.94712	0.0:1.0:0.0:0.0	.	299	Q9Y5W5	WIF1_HUMAN	C	299	ENSP00000286574:G299C	.	G	-	1	0	WIF1	63736105	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.170000	0.71920	2.671000	0.90904	0.555000	0.69702	GGT		PASS	0.438	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			18	101	18	101	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85285815	85285815	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:85285815C>T	ENST00000266682.5	-	2	626	c.85G>A	c.(85-87)Gca>Aca	p.A29T	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.A29T|SLC6A15_ENST00000552192.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	29					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.A29T(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCATCAGCTGCGTCTTCATTG	0.398																																						uc001szv.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(85-87)GCA>ACA		solute carrier family 6, member 15 isoform 1							232.0	214.0	220.0					12																	85285815		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85285815C>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.85G>A	12.37:g.85285815C>T	ENSP00000266682:p.Ala29Thr					SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.A29T	p.A29T	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			2	578	-			29			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.85G>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270389	0.23221	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.72942	-0.7;-0.38;0.95	5.44	4.3	0.51218	.	0.243758	0.42548	D	0.000690	T	0.55178	0.1904	N	0.22421	0.69	0.28286	N	0.923746	B;B	0.15473	0.013;0.001	B;B	0.06405	0.002;0.001	T	0.42616	-0.9441	10	0.23302	T	0.38	.	13.0316	0.58845	0.8649:0.135:0.0:0.0	.	29;29	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	T	29	ENSP00000266682:A29T;ENSP00000390706:A29T;ENSP00000448308:A29T	ENSP00000266682:A29T	A	-	1	0	SLC6A15	83809946	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.474000	0.35398	0.995000	0.38917	-0.346000	0.07831	GCA		PASS	0.398	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		83	238	83	238	---	---	---	---
MGAT4C	25834	broad.mit.edu	37	12	86374017	86374018	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:86374017_86374018GG>TT	ENST00000604798.1	-	8	1690_1691	c.486_487CC>AA	c.(484-489)caCCat>caAAat	p.162_163HH>QN	MGAT4C_ENST00000332156.1_Missense_Mutation_p.162_163HH>QN|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.162_163HH>QN|MGAT4C_ENST00000549405.2_Missense_Mutation_p.162_163HH>QN|MGAT4C_ENST00000393205.2_Missense_Mutation_p.191_192HH>QN|MGAT4C_ENST00000548651.1_Missense_Mutation_p.162_163HH>QN			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	162					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.H162Q(1)|p.H162_H163>QN(1)|p.H163N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCAATAATATGGTGCGCAAATT	0.401																																						uc001tai.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(3)	3						c.(487-489)CAT>AAT|c.(484-486)CAC>CAA		alpha-1,3-mannosyl-glycoprotein																																				SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374017G>T|g.chr12:86374018G>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.486_487delinsTT	12.37:g.86374017_86374018delinsTT	ENSP00000474896:p.H162_H163delinsQN					MGAT4C_uc001tal.3_Missense_Mutation_p.H163N|MGAT4C_uc001taj.3_Missense_Mutation_p.H163N|MGAT4C_uc001tak.3_Missense_Mutation_p.H163N|MGAT4C_uc010sum.1_Missense_Mutation_p.H187N|MGAT4C_uc001tah.3_Missense_Mutation_p.H163N|MGAT4C_uc001tal.3_Missense_Mutation_p.H162Q|MGAT4C_uc001taj.3_Missense_Mutation_p.H162Q|MGAT4C_uc001tak.3_Missense_Mutation_p.H162Q|MGAT4C_uc010sum.1_Missense_Mutation_p.H186Q|MGAT4C_uc001tah.3_Missense_Mutation_p.H162Q	p.H163N|p.H162Q	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	1737|1736	-			163|162			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.487C>A|c.486C>A	CCDS9030.1																																																																																				PASS	0.401	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		41|43	219	41	219	---	---	---	---
ARL1	400	broad.mit.edu	37	12	101794928	101794928	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:101794928G>C	ENST00000261636.8	-	4	422	c.248C>G	c.(247-249)tCa>tGa	p.S83*	ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000536227.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.S83*|ARL1_ENST00000539055.1_Nonsense_Mutation_p.S37*	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	83					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S83*(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ATCTGTGTTTGAATAGTAACA	0.368																																						uc001tib.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(247-249)TCA>TGA		ADP-ribosylation factor-like 1							123.0	113.0	116.0					12																	101794928		1855	4098	5953	SO:0001587	stop_gained	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101794928G>C	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.248C>G	12.37:g.101794928G>C	ENSP00000261636:p.Ser83*					ARL1_uc010svn.1_Nonsense_Mutation_p.S37*|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Nonsense_Mutation_p.S83*	p.S83*	NM_001177	NP_001168	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	4	397	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	83					B4DWW1|P80417|Q53XB1	Nonsense_Mutation	SNP	ENST00000261636.8	37	c.248C>G	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	G	38	7.122152	0.98077	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551828;ENST00000551671	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.9158	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	83;37;66;66;83	.	ENSP00000261636:S83X	S	-	2	0	ARL1	100319059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.297000	0.96120	2.937000	0.99478	0.650000	0.86243	TCA		PASS	0.368	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		24	102	24	102	---	---	---	---
RPL6	6128	broad.mit.edu	37	12	112844596	112844596	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:112844596G>A	ENST00000424576.2	-	4	620	c.435C>T	c.(433-435)acC>acT	p.T145T	RPL6_ENST00000202773.9_Silent_p.T145T	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	145					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)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.T145T(1)		cervix(1)|large_intestine(6)|lung(3)	10						TGGTCCCGGGGGTAATGCTGG	0.562																																						uc001ttu.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(433-435)ACC>ACT		ribosomal protein L6							43.0	38.0	40.0					12																	112844596		2203	4298	6501	SO:0001819	synonymous_variant	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112844596G>A	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.435C>T	12.37:g.112844596G>A						RPL6_uc001ttv.2_Silent_p.T145T	p.T145T	NM_001024662	NP_001019833	Q02878	RL6_HUMAN			4	664	-			145					Q2M3Q3|Q8WW97	Silent	SNP	ENST00000424576.2	37	c.435C>T	CCDS9162.1																																																																																				PASS	0.562	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			11	59	11	59	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120172134	120172134	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:120172134G>C	ENST00000261833.7	-	25	3111	c.3059C>G	c.(3058-3060)aCc>aGc	p.T1020S	CIT_ENST00000392521.2_Missense_Mutation_p.T1062S|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1020					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.T1020S(1)|p.T1062S(1)|p.T1063S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGCATGGTGCACGTGGT	0.522																																						uc001txi.1																			3	Substitution - Missense(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3058-3060)ACC>AGC		citron							99.0	80.0	87.0					12																	120172134		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120172134G>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3059C>G	12.37:g.120172134G>C	ENSP00000261833:p.Thr1020Ser					CIT_uc001txh.1_Missense_Mutation_p.T554S|CIT_uc001txj.1_Missense_Mutation_p.T1062S	p.T1020S	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	25	3112	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1020			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.3059C>G	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.92|13.92	2.382161|2.382161	0.42207|0.42207	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833;ENST00000546026	.|T;T	.|0.63913	.|-0.04;-0.07	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.058949	.|0.64402	.|D	.|0.000003	T|T	0.50446|0.50446	0.1616|0.1616	N|N	0.19112|0.19112	0.55|0.55	0.49798|0.49798	D|D	0.999821|0.999821	.|B;B;B	.|0.30281	.|0.087;0.036;0.275	.|B;B;B	.|0.28916	.|0.018;0.023;0.096	T|T	0.45977|0.45977	-0.9224|-0.9224	5|10	.|0.33940	.|T	.|0.23	.|.	19.4272|19.4272	0.94746|0.94746	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1062;1020;553	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	A|S	648|1062;1020;62	.|ENSP00000376306:T1062S;ENSP00000261833:T1020S	.|ENSP00000261833:T1020S	P|T	-|-	1|2	0|0	CIT|CIT	118656517|118656517	1.000000|1.000000	0.71417|0.71417	0.817000|0.817000	0.32601|0.32601	0.595000|0.595000	0.36748|0.36748	6.603000|6.603000	0.74145|0.74145	2.593000|2.593000	0.87608|0.87608	0.591000|0.591000	0.81541|0.81541	CCA|ACC		PASS	0.522	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		17	66	17	66	---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133435751	133435751	+	Missense_Mutation	SNP	C	C	T	rs199761208		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr12:133435751C>T	ENST00000432561.2	-	8	923	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.V243I|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000443047.2_Missense_Mutation_p.V192I|CHFR_ENST00000266880.7_Missense_Mutation_p.V284I|CHFR_ENST00000450056.2_Missense_Mutation_p.V272I			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	284					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V284I(1)|p.V243I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCCTCGTGGACGGTTTGGGCA	0.567																																						uc001ulf.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(850-852)GTC>ATC		checkpoint with forkhead and ring finger domains							217.0	135.0	163.0					12																	133435751		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133435751C>T	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.850G>A	12.37:g.133435751C>T	ENSP00000392395:p.Val284Ile					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.V272I|CHFR_uc010tbs.1_Missense_Mutation_p.V284I|CHFR_uc001uld.2_Missense_Mutation_p.V243I|CHFR_uc010tbt.1_Missense_Mutation_p.V192I	p.V284I	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	8	934	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	284					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.850G>A	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191193	0.21954	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.18810	2.46;2.23;2.45;2.19;2.44	5.34	-7.28	0.01456	.	1.470730	0.04015	N	0.298906	T	0.09774	0.0240	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.12630	0.003;0.006;0.004;0.006;0.002	B;B;B;B;B	0.12837	0.002;0.006;0.003;0.008;0.004	T	0.25606	-1.0127	10	0.34782	T	0.22	-21.8762	5.4232	0.16411	0.2896:0.2733:0.0:0.4371	.	192;284;284;272;243	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	I	243;192;272;284;84;284	ENSP00000320557:V243I;ENSP00000416431:V192I;ENSP00000398735:V272I;ENSP00000266880:V284I;ENSP00000392395:V284I	ENSP00000266880:V284I	V	-	1	0	CHFR	131945824	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.305000	0.02738	-1.418000	0.02014	0.655000	0.94253	GTC		PASS	0.567	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			10	95	10	95	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29600302	29600302	+	Silent	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr13:29600302T>C	ENST00000431530.3	+	1	1555	c.1497T>C	c.(1495-1497)ccT>ccC	p.P499P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	489						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.P499P(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCTGGACCCTCAAAGTGGCC	0.498																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1495-1497)CCT>CCC		hypothetical protein LOC23281 isoform a							77.0	84.0	82.0					13																	29600302		1978	4137	6115	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600302T>C	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1497T>C	13.37:g.29600302T>C							p.P499P	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	1555	+			489					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.1497T>C	CCDS45022.1																																																																																				PASS	0.498	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		3	76	3	76	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46730657	46730657	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr13:46730657T>C	ENST00000398576.2	-	8	795	c.407A>G	c.(406-408)aAt>aGt	p.N136S	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.N136S			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	136	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.N136S(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATCAGGATCATTTTCCAGGGC	0.368			T	BCL6	NHL																																	uc001vaz.3				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)	7						c.(406-408)AAT>AGT		L-plastin							238.0	230.0	232.0					13																	46730657		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730657T>C	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.407A>G	13.37:g.46730657T>C	ENSP00000381581:p.Asn136Ser					LCP1_uc001vba.3_Missense_Mutation_p.N136S	p.N136S	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	533	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	136			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.407A>G	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.703371	0.30232	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95342	-3.68;-3.68;-3.68	5.62	3.16	0.36331	Calponin homology domain (5);	0.176603	0.64402	N	0.000013	D	0.87366	0.6159	N	0.21142	0.635	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77550	-0.2546	10	0.15066	T	0.55	-9.698	9.7219	0.40308	0.0:0.1415:0.0:0.8585	.	136	P13796	PLSL_HUMAN	S	136	ENSP00000315757:N136S;ENSP00000381581:N136S;ENSP00000408052:N136S	ENSP00000315757:N136S	N	-	2	0	LCP1	45628658	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	3.329000	0.52060	0.487000	0.27698	-0.256000	0.11100	AAT		PASS	0.368	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		40	145	40	145	---	---	---	---
LECT1	11061	broad.mit.edu	37	13	53307423	53307423	+	Silent	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr13:53307423C>T	ENST00000377962.3	-	3	363	c.285G>A	c.(283-285)ggG>ggA	p.G95G	LECT1_ENST00000448904.2_Silent_p.G95G			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	95					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.G95G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CCAAGTTGTTCCCAGCGTCTA	0.363																																						uc001vhf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(283-285)GGG>GGA		leukocyte cell derived chemotaxin 1 isoform 1							183.0	172.0	176.0					13																	53307423		2203	4300	6503	SO:0001819	synonymous_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53307423C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.285G>A	13.37:g.53307423C>T						LECT1_uc001vhg.2_Silent_p.G95G|LECT1_uc001vhh.2_Silent_p.G122G	p.G95G	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	3	396	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	95					Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	ENST00000377962.3	37	c.285G>A	CCDS9437.1																																																																																				PASS	0.363	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			24	161	24	161	---	---	---	---
OR6S1	341799	broad.mit.edu	37	14	21109802	21109802	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr14:21109802C>G	ENST00000320704.3	-	1	48	c.49G>C	c.(49-51)Gca>Cca	p.A17P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A17P(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGGAGCCCTGCCAGGACGAAC	0.458																																						uc001vxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(49-51)GCA>CCA		olfactory receptor, family 6, subfamily S,							114.0	120.0	118.0					14																	21109802		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109802C>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.49G>C	14.37:g.21109802C>G	ENSP00000313110:p.Ala17Pro						p.A17P	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	49	-	all_cancers(95;0.00304)		17			Extracellular (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.49G>C	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243432	0.39697	.	.	ENSG00000181803	ENST00000320704	T	0.01099	5.34	5.84	4.9	0.64082	.	0.336442	0.21892	N	0.067574	T	0.01489	0.0048	L	0.38175	1.15	0.31161	N	0.704349	B	0.09022	0.002	B	0.09377	0.004	T	0.11494	-1.0585	10	0.87932	D	0	-3.6995	12.5222	0.56067	0.0:0.7198:0.2802:0.0	.	17	Q8NH40	OR6S1_HUMAN	P	17	ENSP00000313110:A17P	ENSP00000313110:A17P	A	-	1	0	OR6S1	20179642	0.000000	0.05858	1.000000	0.80357	0.640000	0.38277	-0.109000	0.10840	2.758000	0.94735	0.655000	0.94253	GCA		PASS	0.458	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			52	257	52	257	---	---	---	---
RPGRIP1	57096	broad.mit.edu	37	14	21794322	21794322	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr14:21794322A>T	ENST00000400017.2	+	16	2700	c.2700A>T	c.(2698-2700)gaA>gaT	p.E900D	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E862D|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E900D|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E259D	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	900					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.E516D(1)|p.E900D(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAAAATGAATCTATCAAAG	0.453																																						uc001wag.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|pancreas(1)	7						c.(2698-2700)GAA>GAT		retinitis pigmentosa GTPase regulator							67.0	63.0	64.0					14																	21794322		1863	4116	5979	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21794322A>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2700A>T	14.37:g.21794322A>T	ENSP00000382895:p.Glu900Asp					RPGRIP1_uc001wah.2_Missense_Mutation_p.E542D|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.E375D|RPGRIP1_uc010aim.2_Missense_Mutation_p.E283D|RPGRIP1_uc001wal.2_Missense_Mutation_p.E259D|RPGRIP1_uc001wam.2_Missense_Mutation_p.E217D	p.E900D	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	16	2700	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	900					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2700A>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613381	0.28712	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	4.87	2.54	0.30619	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.348186	0.33980	N	0.004365	T	0.66509	0.2796	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.20261	0.034;0.043;0.034;0.034;0.005	B;B;B;B;B	0.17722	0.014;0.019;0.014;0.014;0.006	T	0.59757	-0.7394	10	0.87932	D	0	-9.3304	4.4982	0.11851	0.5417:0.2795:0.1788:0.0	.	283;259;375;516;900	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	D	862;900;900;375;259	ENSP00000451219:E862D;ENSP00000382895:E900D;ENSP00000206660:E900D;ENSP00000451262:E375D;ENSP00000309721:E259D	ENSP00000206660:E900D	E	+	3	2	RPGRIP1	20864162	0.009000	0.17119	0.942000	0.38095	0.791000	0.44710	0.436000	0.21526	0.372000	0.24591	0.533000	0.62120	GAA		PASS	0.453	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		8	30	8	30	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21859633	21859633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr14:21859633G>A	ENST00000557364.1	-	36	7317	c.7054C>T	c.(7054-7056)Cga>Tga	p.R2352*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.R2073*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.R2352*|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2352					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.R2352*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTAGAAATCGGGGATCAACA	0.483																																						uc001was.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(6217-6219)CGA>TGA		chromodomain helicase DNA binding protein 8							46.0	46.0	46.0					14																	21859633		2006	4156	6162	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21859633G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7054C>T	14.37:g.21859633G>A	ENSP00000451601:p.Arg2352*					CHD8_uc001war.1_Nonsense_Mutation_p.R1969*	p.R2073*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	36	6311	-	all_cancers(95;0.00121)		2352					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.6217C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	49	15.413791	0.99833	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.42	5.42	0.78866	.	0.162218	0.42172	D	0.000749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0335	18.1527	0.89679	0.0:0.0:1.0:0.0	.	.	.	.	X	2073;2352;2072;2352	.	ENSP00000262707:R2072X	R	-	1	2	CHD8	20929473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.814000	0.27239	2.819000	0.97034	0.655000	0.94253	CGA		PASS	0.483	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	51	13	51	---	---	---	---
CMA1	1215	broad.mit.edu	37	14	24975388	24975388	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr14:24975388C>A	ENST00000250378.3	-	4	475	c.446G>T	c.(445-447)tGg>tTg	p.W149L	CMA1_ENST00000206446.4_Missense_Mutation_p.W38L|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	149	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.W149L(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TGTTCTTCCCCAGCCAGCCAC	0.577																																						uc001wpp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)TGG>TTG		chymase 1, mast cell preproprotein							51.0	46.0	47.0					14																	24975388		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975388C>A		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.446G>T	14.37:g.24975388C>A	ENSP00000250378:p.Trp149Leu					CMA1_uc010alx.1_Missense_Mutation_p.W38L	p.W149L	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	4	476	-			149			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.446G>T	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982814	0.74474	.	.	ENSG00000092009	ENST00000250378;ENST00000206446	T;T	0.74947	-0.89;-0.89	5.37	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.51477	D	0.000090	D	0.88592	0.6478	H	0.94771	3.58	0.43902	D	0.996539	D	0.89917	1.0	D	0.97110	1.0	D	0.90205	0.4260	10	0.87932	D	0	.	9.9726	0.41763	0.0:0.9091:0.0:0.0909	.	149	P23946	CMA1_HUMAN	L	149;38	ENSP00000250378:W149L;ENSP00000206446:W38L	ENSP00000206446:W38L	W	-	2	0	CMA1	24045228	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.583000	0.53928	1.514000	0.48869	0.655000	0.94253	TGG		PASS	0.577	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			16	46	16	46	---	---	---	---
TMEM260	54916	broad.mit.edu	37	14	57092202	57092202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr14:57092202G>T	ENST00000261556.6	+	12	1623	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Nonsense_Mutation_p.G35*	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	501						integral component of membrane (GO:0016021)		p.G501*(1)									ATTACCTAGTGGAATGGTCAC	0.348																																						uc001xcm.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1501-1503)GGA>TGA		hypothetical protein LOC54916							116.0	117.0	116.0					14																	57092202		2203	4300	6503	SO:0001587	stop_gained	54916					integral to membrane		g.chr14:57092202G>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1501G>T	14.37:g.57092202G>T	ENSP00000261556:p.Gly501*					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Nonsense_Mutation_p.G34*|C14orf101_uc001xco.2_Nonsense_Mutation_p.G34*	p.G501*	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	12	1623	+			501					A8KAN4|B3KPF5|Q86XE1	Nonsense_Mutation	SNP	ENST00000261556.6	37	c.1501G>T	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	39	7.539428	0.98345	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	.	.	.	5.94	5.94	0.96194	.	0.131761	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-16.0471	20.419	0.99029	0.0:0.0:1.0:0.0	.	.	.	.	X	501;35	.	ENSP00000261556:G501X	G	+	1	0	C14orf101	56161955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.534000	0.90620	2.832000	0.97577	0.650000	0.86243	GGA		PASS	0.348	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		30	90	30	90	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81557425	81557425	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr14:81557425C>G	ENST00000541158.2	+	6	727	c.405C>G	c.(403-405)aaC>aaG	p.N135K	TSHR_ENST00000554435.1_Missense_Mutation_p.N135K|TSHR_ENST00000554263.1_Missense_Mutation_p.N135K|TSHR_ENST00000342443.6_Missense_Mutation_p.N135K|TSHR_ENST00000298171.2_Missense_Mutation_p.N135K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	135					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.N135K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCATTTTCAACACTGGACTTA	0.299			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		2	Substitution - Missense(2)		lung(2)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(403-405)AAC>AAG		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						126.0	123.0	124.0					14																	81557425		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81557425C>G	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.405C>G	14.37:g.81557425C>G	ENSP00000441235:p.Asn135Lys					TSHR_uc001xvb.1_Missense_Mutation_p.N135K|TSHR_uc001xvc.2_Missense_Mutation_p.N135K|TSHR_uc010tvs.1_Missense_Mutation_p.N135K	p.N135K	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	5	561	+			135			Extracellular (Potential).|LRR 2.		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.405C>G	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459874	0.63401	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.8	2.48	0.30137	.	0.039713	0.85682	D	0.000000	D	0.91533	0.7326	M	0.86502	2.82	0.58432	D	0.999994	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.85130	0.959;0.996;0.976;0.997	D	0.90601	0.4544	10	0.87932	D	0	.	8.1491	0.31130	0.0:0.6992:0.0:0.3008	.	135;135;135;135	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	K	135	ENSP00000441235:N135K;ENSP00000340113:N135K;ENSP00000298171:N135K;ENSP00000451202:N135K;ENSP00000450549:N135K	ENSP00000298171:N135K	N	+	3	2	TSHR	80627178	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.613000	0.24299	0.765000	0.33221	0.650000	0.86243	AAC		PASS	0.299	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		16	154	16	154	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89168804	89168804	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr14:89168804C>G	ENST00000380664.5	-	14	2223	c.2224G>C	c.(2224-2226)Gtg>Ctg	p.V742L	EML5_ENST00000352093.5_Missense_Mutation_p.V742L|EML5_ENST00000554922.1_Missense_Mutation_p.V742L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	742						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.V742L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTGTTGCCACGTAGTCTTTC	0.368																																						uc001xxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2224-2226)GTG>CTG		echinoderm microtubule associated protein like							86.0	79.0	81.0					14																	89168804		1878	4104	5982	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89168804C>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2224G>C	14.37:g.89168804C>G	ENSP00000370039:p.Val742Leu					EML5_uc001xxh.1_5'UTR	p.V742L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			15	2410	-			742			WD 11.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2224G>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430998	0.62844	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.50548	0.74;0.74;0.74	5.27	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.077239	0.52532	D	0.000063	T	0.39253	0.1071	L	0.28649	0.875	0.52501	D	0.999952	P	0.40230	0.708	P	0.44359	0.447	T	0.09907	-1.0653	10	0.12103	T	0.63	-9.8644	13.5311	0.61623	0.0:0.9243:0.0:0.0757	.	742	Q05BV3	EMAL5_HUMAN	L	742	ENSP00000451998:V742L;ENSP00000298315:V742L;ENSP00000370039:V742L	ENSP00000298315:V742L	V	-	1	0	EML5	88238557	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.620000	0.67736	1.431000	0.47355	0.557000	0.71058	GTG		PASS	0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	94	4	94	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22969169	22969169	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:22969169G>A	ENST00000313077.7	+	22	2520	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D799N|CYFIP1_ENST00000435939.2_Missense_Mutation_p.D368N	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.D799N(1)|p.D368N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACAGGAGCTGGATGGCCTGTT	0.632																																						uc001yus.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(2395-2397)GAT>AAT		cytoplasmic FMR1 interacting protein 1 isoform							94.0	65.0	75.0					15																	22969169		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22969169G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2395G>A	15.37:g.22969169G>A	ENSP00000324549:p.Asp799Asn					CYFIP1_uc001yut.2_Missense_Mutation_p.D799N|CYFIP1_uc010aya.1_Missense_Mutation_p.D827N|CYFIP1_uc001yuu.2_Missense_Mutation_p.D368N|CYFIP1_uc001yuv.2_5'UTR	p.D799N	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	22	2499	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	799						Missense_Mutation	SNP	ENST00000313077.7	37	c.2395G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275694	0.95459	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.23754	1.89;1.89	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.32285	0.0824	L	0.45581	1.43	0.80722	D	1	P;P;B	0.49862	0.722;0.929;0.086	B;P;B	0.45406	0.308;0.479;0.201	T	0.07635	-1.0762	10	0.72032	D	0.01	-31.5283	19.1873	0.93649	0.0:0.0:1.0:0.0	.	827;368;799	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	N	799;827;368	ENSP00000324549:D799N;ENSP00000405956:D368N	ENSP00000324549:D799N	D	+	1	0	CYFIP1	20520610	1.000000	0.71417	0.925000	0.36789	0.732000	0.41865	9.643000	0.98464	2.546000	0.85860	0.561000	0.74099	GAT		PASS	0.632	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		5	44	5	44	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27571980	27571980	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:27571980G>T	ENST00000333743.6	+	4	549	c.295G>T	c.(295-297)Gct>Tct	p.A99S	GABRG3_ENST00000555083.1_Missense_Mutation_p.A99S	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	99					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A99S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATATTTTTTGCTCAGACCTG	0.393																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GCT>TCT		gamma-aminobutyric acid (GABA) A receptor, gamma							130.0	131.0	130.0					15																	27571980		1938	4145	6083	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27571980G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.295G>T	15.37:g.27571980G>T	ENSP00000331912:p.Ala99Ser					GABRG3_uc001zbf.2_Missense_Mutation_p.A99S	p.A99S	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	4	461	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	99			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.295G>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071494	0.76301	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.78707	-1.2;-1.2;-1.2	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84261	0.5433	L	0.45051	1.395	0.80722	D	1	P;D	0.60160	0.795;0.987	P;D	0.66847	0.714;0.947	D	0.83718	0.0191	10	0.49607	T	0.09	.	19.016	0.92894	0.0:0.0:1.0:0.0	.	99;99	Q99928;G3V594	GBRG3_HUMAN;.	S	99;99;41	ENSP00000331912:A99S;ENSP00000452244:A99S;ENSP00000451862:A41S	ENSP00000331912:A99S	A	+	1	0	GABRG3	25154726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.531000	0.98054	2.718000	0.92993	0.650000	0.86243	GCT		PASS	0.393	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			34	145	34	145	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43363018	43363018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:43363018C>A	ENST00000290650.4	-	5	712	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.E212*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	212					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E212*(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GGAGGCAGTTCTTTTTCCTCT	0.373																																						uc001zqq.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(634-636)GAA>TAA		ubiquitin protein ligase E3 component n-recognin							183.0	173.0	176.0					15																	43363018		2203	4299	6502	SO:0001587	stop_gained	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43363018C>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.634G>T	15.37:g.43363018C>A	ENSP00000290650:p.Glu212*					UBR1_uc010udk.1_Nonsense_Mutation_p.E212*	p.E212*	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	5	700	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	212					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	ENST00000290650.4	37	c.634G>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331646	0.95733	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	.	.	.	5.59	4.65	0.58169	.	0.209782	0.43919	D	0.000511	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.99	9.7766	0.40623	0.0:0.7855:0.1416:0.0729	.	.	.	.	X	212	.	ENSP00000290650:E212X	E	-	1	0	UBR1	41150310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.835000	0.48175	1.328000	0.45358	0.655000	0.94253	GAA		PASS	0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		16	225	16	225	---	---	---	---
CYP11A1	1583	broad.mit.edu	37	15	74627335	74627335	+	IGR	SNP	G	G	T	rs201885171		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:74627335G>T	ENST00000268053.6	-	0	1934				CCDC33_ENST00000321288.5_Missense_Mutation_p.R919L|CCDC33_ENST00000268082.4_Missense_Mutation_p.R309L|CCDC33_ENST00000558821.1_Missense_Mutation_p.R275L|CCDC33_ENST00000398814.3_Missense_Mutation_p.R682L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R309L(1)|p.R919L(1)|p.R682L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TCAGCTCGACGCTGGGGACGA	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axo.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(2)	5						c.(2044-2046)CGC>CTC		coiled-coil domain containing 33 isoform 1							88.0	95.0	93.0					15																	74627335		2036	4185	6221	SO:0001628	intergenic_variant	80125						protein binding	g.chr15:74627335G>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627335G>T						CCDC33_uc002axp.2_Missense_Mutation_p.R538L|CCDC33_uc002axq.2_Missense_Mutation_p.R309L|CCDC33_uc002axr.2_Missense_Mutation_p.R275L	p.R682L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			18	2439	+			885			Potential.		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.2045G>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752772	0.69648	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.37584	1.19;2.17;1.85;1.83	4.92	3.0	0.34707	.	0.242758	0.35525	N	0.003141	T	0.43389	0.1245	L	0.56769	1.78	0.32983	D	0.523973	D;D;D;P	0.61697	0.99;0.99;0.983;0.891	P;P;P;P	0.56343	0.796;0.796;0.629;0.535	T	0.53535	-0.8425	10	0.33141	T	0.24	.	7.39	0.26905	0.2825:0.0:0.7175:0.0	.	275;309;919;682	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	L	919;682;275;309	ENSP00000325012:R919L;ENSP00000381795:R682L;ENSP00000325661:R275L;ENSP00000268082:R309L	ENSP00000268082:R309L	R	+	2	0	CCDC33	72414388	0.004000	0.15560	1.000000	0.80357	0.977000	0.68977	-0.002000	0.12924	1.034000	0.39945	0.478000	0.44815	CGC		PASS	0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			4	141	4	141	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86270386	86270386	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:86270386G>A	ENST00000394518.2	+	28	7007	c.6912G>A	c.(6910-6912)ggG>ggA	p.G2304G	AKAP13_ENST00000394510.2_Silent_p.G549G|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.G2308G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2304	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.G384G(1)|p.G2308G(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCAGCATGGGGATGACAGATC	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(6910-6912)GGG>GGA		A-kinase anchor protein 13 isoform 2							117.0	94.0	101.0					15																	86270386		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86270386G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6912G>A	15.37:g.86270386G>A						AKAP13_uc002blu.1_Silent_p.G2308G|AKAP13_uc010bnf.1_Silent_p.G925G|AKAP13_uc002blw.1_Silent_p.G769G|AKAP13_uc002blx.1_Silent_p.G549G	p.G2304G	NM_007200	NP_009131	Q12802	AKP13_HUMAN			28	7082	+			2304			Interaction with ESR1.|PH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.6912G>A	CCDS32319.1																																																																																				PASS	0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		33	103	33	103	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88727478	88727478	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:88727478G>T	ENST00000360948.2	-	3	462	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	NTRK3_ENST00000355254.2_Missense_Mutation_p.L101I|NTRK3_ENST00000357724.2_Missense_Mutation_p.L101I|NTRK3_ENST00000558676.1_Missense_Mutation_p.L101I|NTRK3_ENST00000317501.3_Missense_Mutation_p.L101I|NTRK3_ENST00000557856.1_Missense_Mutation_p.L101I|NTRK3_ENST00000394480.2_Missense_Mutation_p.L101I|NTRK3_ENST00000540489.2_Missense_Mutation_p.L101I|NTRK3_ENST00000542733.2_Missense_Mutation_p.L3I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	101					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L101I(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCGGTGTAGAGCTCCATGTCC	0.577			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(301-303)CTC>ATC		neurotrophic tyrosine kinase, receptor, type 3							108.0	79.0	89.0					15																	88727478		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88727478G>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.301C>A	15.37:g.88727478G>T	ENSP00000354207:p.Leu101Ile	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.L101I|NTRK3_uc002bmf.1_Missense_Mutation_p.L101I|NTRK3_uc010upl.1_Missense_Mutation_p.L3I|NTRK3_uc010bnh.1_Missense_Mutation_p.L101I|NTRK3_uc002bmg.2_Missense_Mutation_p.L101I	p.L101I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	463	-			101			Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.301C>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756308	0.31137	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	D;D;D;D;T;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-0.65;-2.62;-2.62	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000002	D	0.87962	0.6310	N	0.08118	0	0.36987	D	0.894572	D;D;B;D;D;B	0.76494	0.993;0.993;0.028;0.999;0.986;0.006	D;D;B;D;D;B	0.73380	0.967;0.952;0.017;0.98;0.934;0.009	D	0.86838	0.2015	10	0.21014	T	0.42	.	12.4109	0.55466	0.0:0.0:1.0:0.0	.	3;101;101;101;101;101	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	I	101;101;101;101;3;101;101	ENSP00000377990:L101I;ENSP00000354207:L101I;ENSP00000350356:L101I;ENSP00000347397:L101I;ENSP00000437773:L3I;ENSP00000444673:L101I;ENSP00000318328:L101I	ENSP00000318328:L101I	L	-	1	0	NTRK3	86528482	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	6.617000	0.74210	2.299000	0.77371	0.655000	0.94253	CTC		PASS	0.577	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				13	67	13	67	---	---	---	---
SV2B	9899	broad.mit.edu	37	15	91795123	91795123	+	Silent	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:91795123C>A	ENST00000394232.1	+	3	996	c.526C>A	c.(526-528)Cga>Aga	p.R176R	SV2B_ENST00000330276.4_Silent_p.R176R|SV2B_ENST00000557291.1_3'UTR|SV2B_ENST00000545111.2_Silent_p.R25R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	176					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.R176*(1)|p.R176R(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGGAAGGAAGCGAGTCCTCAG	0.582																																						uc002bqv.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(526-528)CGA>AGA		synaptic vesicle protein 2B homolog							133.0	109.0	117.0					15																	91795123		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91795123C>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.526C>A	15.37:g.91795123C>A						SV2B_uc002bqt.2_Silent_p.R176R|SV2B_uc010uqv.1_Silent_p.R25R|SV2B_uc002bqu.3_RNA	p.R176R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	917	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		176			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.526C>A	CCDS10370.1																																																																																				PASS	0.582	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		26	101	26	101	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100533367	100533367	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr15:100533367G>A	ENST00000268070.4	-	20	2940	c.2835C>T	c.(2833-2835)acC>acT	p.T945T		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	945	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T945T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCACGCCACGGTCCGTTTCC	0.537																																						uc002bvv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2833-2835)ACC>ACT		ADAM metallopeptidase with thrombospondin type 1							152.0	127.0	136.0					15																	100533367		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100533367G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2835C>T	15.37:g.100533367G>A							p.T945T	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	20	2914	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		945			TSP type-1 4.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2835C>T	CCDS10383.1																																																																																				PASS	0.537	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		26	106	26	106	---	---	---	---
ALDOA	226	broad.mit.edu	37	16	30080176	30080176	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr16:30080176G>A	ENST00000566897.1	+	8	1569	c.417G>A	c.(415-417)aaG>aaA	p.K139K	ALDOA_ENST00000395240.3_Silent_p.K139K|ALDOA_ENST00000569798.1_Silent_p.K139K|ALDOA_ENST00000569545.1_Silent_p.K139K|ALDOA_ENST00000563060.2_Silent_p.K139K|ALDOA_ENST00000395248.1_Silent_p.K193K|ALDOA_ENST00000564546.1_Silent_p.K139K|ALDOA_ENST00000564595.2_Silent_p.K193K|ALDOA_ENST00000338110.5_Silent_p.K139K|ALDOA_ENST00000412304.2_Silent_p.K139K			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	139					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)	p.K139K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCAGTACAAGAAGGACGGAG	0.587											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dvw.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(415-417)AAG>AAA		fructose-bisphosphate aldolase A							99.0	94.0	96.0					16																	30080176		2197	4300	6497	SO:0001819	synonymous_variant	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30080176G>A	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.417G>A	16.37:g.30080176G>A			OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Silent_p.K139K|ALDOA_uc002dvy.2_Silent_p.K139K|ALDOA_uc002dvz.2_Silent_p.K139K|ALDOA_uc002dwa.3_Silent_p.K139K|ALDOA_uc002dwb.1_Silent_p.K139K|ALDOA_uc002dwc.2_Silent_p.K139K|ALDOA_uc010veg.1_Silent_p.K193K|ALDOA_uc002dwd.2_Silent_p.K139K	p.K139K	NM_184043	NP_908932	P04075	ALDOA_HUMAN			8	1545	+			139					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	c.417G>A	CCDS10668.1																																																																																				PASS	0.587	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		28	137	28	137	---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55734171	55734171	+	Missense_Mutation	SNP	A	A	T	rs267604578		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr16:55734171A>T	ENST00000379906.2	+	12	1966	c.1711A>T	c.(1711-1713)Atc>Ttc	p.I571F	SLC6A2_ENST00000567238.1_Missense_Mutation_p.I466F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.I571F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.I571F|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000566163.1_Missense_Mutation_p.I526F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.I571F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	571					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.I571F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCTGGTGCCCATCTACGTCAT	0.617																																						uc002eif.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.(1711-1713)ATC>TTC		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						104.0	90.0	95.0					16																	55734171		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55734171A>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1711A>T	16.37:g.55734171A>T	ENSP00000369237:p.Ile571Phe					SLC6A2_uc010ccd.2_Intron|SLC6A2_uc002eig.2_Missense_Mutation_p.I571F|SLC6A2_uc002eih.2_Missense_Mutation_p.I571F|SLC6A2_uc002eii.2_Missense_Mutation_p.I466F|SLC6A2_uc002eij.2_Missense_Mutation_p.I285F	p.I571F	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	13	1822	+			571			Helical; Name=12; (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1711A>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	A	5.652	0.304909	0.10678	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.74947	-0.89;-0.89	5.38	1.16	0.20824	.	0.627287	0.17157	N	0.184842	T	0.58424	0.2121	L	0.45228	1.405	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.18263	0.004;0.021;0.012	T	0.41556	-0.9502	10	0.28530	T	0.3	.	1.8088	0.03086	0.241:0.1376:0.48:0.1414	.	285;466;571	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	F	571;285;571;571	ENSP00000369237:I571F;ENSP00000219833:I571F	ENSP00000219833:I571F	I	+	1	0	SLC6A2	54291672	0.067000	0.21026	0.023000	0.16930	0.108000	0.19459	0.603000	0.24149	-0.018000	0.14079	-0.242000	0.12053	ATC		PASS	0.617	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			48	109	48	109	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71319538	71319538	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr16:71319538C>T	ENST00000338099.5	-	3	622	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	CMTR2_ENST00000434935.2_Missense_Mutation_p.G96R			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	96					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.G96R(1)									ATGATTTTCCCCGCTTTATTA	0.373																																						uc010cga.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(286-288)GGG>AGG		FtsJ methyltransferase domain containing 1							102.0	97.0	99.0					16																	71319538		2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319538C>T	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.286G>A	16.37:g.71319538C>T	ENSP00000337512:p.Gly96Arg					FTSJD1_uc002ezy.3_Missense_Mutation_p.G96R|FTSJD1_uc002ezz.3_Missense_Mutation_p.G96R	p.G96R	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	692	-			96					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.286G>A	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932379	0.73442	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15834	2.39;2.39	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23511	-1.0186	10	0.32370	T	0.25	-29.0525	18.8293	0.92132	0.0:1.0:0.0:0.0	.	96	Q8IYT2	FTSJ1_HUMAN	R	96	ENSP00000337512:G96R;ENSP00000411148:G96R	ENSP00000337512:G96R	G	-	1	0	FTSJD1	69877039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.683000	0.91414	0.655000	0.94253	GGG		PASS	0.373	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		29	118	29	118	---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80718824	80718824	+	Missense_Mutation	SNP	T	T	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr16:80718824T>G	ENST00000570137.2	-	2	382	c.227A>C	c.(226-228)aAg>aCg	p.K76T	CDYL2_ENST00000563890.1_Missense_Mutation_p.K76T|CDYL2_ENST00000566173.1_Missense_Mutation_p.K76T|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.K76T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	76						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.K76T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ACGCAGCAGCTTGGAGGTACT	0.517																																						uc002ffs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(226-228)AAG>ACG		chromodomain protein, Y-like 2							126.0	105.0	112.0					16																	80718824		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718824T>G	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.227A>C	16.37:g.80718824T>G	ENSP00000476295:p.Lys76Thr						p.K76T	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			2	332	-			76					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.227A>C	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785927	0.31593	.	.	ENSG00000166446	ENST00000299564	T	0.59224	0.28	5.23	5.23	0.72850	.	0.300830	0.31601	N	0.007378	T	0.42381	0.1200	N	0.14661	0.345	0.47737	D	0.999507	B	0.18968	0.032	B	0.17098	0.017	T	0.34700	-0.9818	10	0.52906	T	0.07	.	14.4722	0.67523	0.0:0.0:0.0:1.0	.	76	Q8N8U2	CDYL2_HUMAN	T	76	ENSP00000299564:K76T	ENSP00000299564:K76T	K	-	2	0	CDYL2	79276325	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	3.217000	0.51184	2.191000	0.70037	0.533000	0.62120	AAG		PASS	0.517	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		34	110	34	110	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87723731	87723731	+	Silent	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr16:87723731C>A	ENST00000284262.2	+	4	2007	c.1765C>A	c.(1765-1767)Cgg>Agg	p.R589R	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	589					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.R589R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TTCCCACCACCGGGCCAGCAA	0.672																																						uc002fkd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1765-1767)CGG>AGG		junctophilin 3							8.0	8.0	8.0					16																	87723731		2155	4241	6396	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87723731C>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1765C>A	16.37:g.87723731C>A						JPH3_uc010vou.1_RNA	p.R589R	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	4	2019	+			589			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.1765C>A	CCDS10962.1																																																																																				PASS	0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	11	4	11	---	---	---	---
BANP	54971	broad.mit.edu	37	16	88052143	88052143	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr16:88052143G>A	ENST00000393207.1	+	7	962	c.741G>A	c.(739-741)acG>acA	p.T247T	BANP_ENST00000286122.7_Silent_p.T247T|BANP_ENST00000393208.2_Silent_p.T216T|BANP_ENST00000355163.5_Silent_p.T222T|BANP_ENST00000479780.2_Silent_p.T216T|BANP_ENST00000538234.1_Silent_p.T255T|BANP_ENST00000355022.4_Silent_p.T216T	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	247	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T247T(1)|p.T216T(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACTGCCGCACGGCCGAGAAGA	0.647																																						uc002fkr.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(736-738)ACG>ACA		BTG3 associated nuclear protein isoform b							56.0	45.0	49.0					16																	88052143		2197	4300	6497	SO:0001819	synonymous_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88052143G>A	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.741G>A	16.37:g.88052143G>A						BANP_uc002fkp.2_Silent_p.T216T|BANP_uc002fkq.2_Silent_p.T216T|BANP_uc010vow.1_Silent_p.T254T|BANP_uc002fks.3_Silent_p.T215T|BANP_uc002fko.1_Silent_p.T152T|BANP_uc010vov.1_Silent_p.T221T	p.T246T	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	7	962	+			247			Interaction with CUX1 and HDAC1 (By similarity).|BEN.		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	c.738G>A	CCDS54054.1																																																																																				PASS	0.647	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		12	58	12	58	---	---	---	---
FAM27L	284123	broad.mit.edu	37	17	21825561	21825561	+	lincRNA	SNP	C	C	T	rs371171005	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr17:21825561C>T	ENST00000426869.3	+	0	265					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like									p.R21W(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		caggcctgcccggagggtgtt	0.632													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17675	0.0		0.0	False		,,,				2504	0.0					uc002gyz.2																			1	Substitution - Missense(1)		lung(1)		0								Homo sapiens family with sequence similarity 27-like, mRNA (cDNA clone MGC:35151 IMAGE:5169482), complete cds.		C		6,3992		0,6,1993	48.0	56.0	53.0			0.2	0.0	17		53	0,8324		0,0,4162	no	intergenic				0,6,6155	TT,TC,CC		0.0,0.1501,0.0487			21825561	6,12316	1999	4162	6161			284123							g.chr17:21825561C>T	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825561C>T								NR_028336					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	1		+									RNA	SNP	ENST00000426869.3	37	c.192C>T		.	.	.	.	.	.	.	.	.	.	C	2.757	-0.258791	0.05791	0.001501	0.0	ENSG00000178130	ENST00000426869	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.24973	N	0.991659	.	.	.	.	.	.	T	0.58364	-0.7649	3	0.59425	D	0.04	.	.	.	.	.	.	.	.	W	21	.	ENSP00000388448:R21W	R	+	1	2	FAM27L	21749688	0.014000	0.17966	0.005000	0.12908	0.005000	0.04900	0.172000	0.16704	0.192000	0.20272	0.195000	0.17529	CGG		PASS	0.632	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		18	121	18	121	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29496972	29496972	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr17:29496972G>T	ENST00000358273.4	+	5	926	c.543G>T	c.(541-543)caG>caT	p.Q181H	NF1_ENST00000431387.4_Missense_Mutation_p.Q181H|NF1_ENST00000356175.3_Missense_Mutation_p.Q181H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	181					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Q181H(2)|p.E178_D186del(1)|p.Y182fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTGTTACAGTATATCAATG	0.274			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		16	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.E178_D186del(1)|p.Y182fs*8(1)	soft_tissue(9)|autonomic_ganglia(3)|lung(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(541-543)CAG>CAT		neurofibromin isoform 1							91.0	91.0	91.0					17																	29496972		2203	4299	6502	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29496972G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.543G>T	17.37:g.29496972G>T	ENSP00000351015:p.Gln181His	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.Q181H|NF1_uc002hgf.1_Missense_Mutation_p.Q181H|NF1_uc002hgh.2_Missense_Mutation_p.Q181H|NF1_uc010csn.1_Intron	p.Q181H	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	5	876	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	181					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.543G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040117	0.75732	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	D;D;D	0.81579	-1.51;-1.51;-1.51	5.59	3.56	0.40772	.	0.000000	0.85682	D	0.000000	D	0.87830	0.6276	M	0.78049	2.395	0.80722	D	1	P;D;D;P	0.76494	0.899;0.999;0.994;0.729	P;D;D;P	0.80764	0.568;0.994;0.991;0.471	D	0.88224	0.2899	10	0.72032	D	0.01	.	9.9994	0.41920	0.2118:0.0:0.7882:0.0	.	181;181;181;181	P21359-2;P21359;Q14931;P21359-3	.;NF1_HUMAN;.;.	H	181	ENSP00000412921:Q181H;ENSP00000351015:Q181H;ENSP00000348498:Q181H	ENSP00000348498:Q181H	Q	+	3	2	NF1	26521098	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.889000	0.56212	1.358000	0.45922	0.591000	0.81541	CAG		PASS	0.274	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		14	67	14	67	---	---	---	---
NAGS	162417	broad.mit.edu	37	17	42085865	42085865	+	Missense_Mutation	SNP	T	T	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr17:42085865T>C	ENST00000293404.3	+	7	1619	c.1501T>C	c.(1501-1503)Ttc>Ctc	p.F501L		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	501	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)	p.F501L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTGGATCTTCTTCTGGTTTGG	0.532																																						uc002ies.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1501-1503)TTC>CTC		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						272.0	264.0	267.0					17																	42085865		2203	4300	6503	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42085865T>C	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1501T>C	17.37:g.42085865T>C	ENSP00000293404:p.Phe501Leu					NAGS_uc010czn.2_Missense_Mutation_p.F509L|NAGS_uc002iet.2_Missense_Mutation_p.F125L	p.F501L	NM_153006	NP_694551	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	7	1501	+		Breast(137;0.00536)|Prostate(33;0.0724)	501			N-acetyltransferase.		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.1501T>C	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.046833	0.93740	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.97041	-4.22	5.33	5.33	0.75918	GCN5-related N-acetyltransferase (GNAT) domain (1);Domain of unknown function DUF619 (1);	0.060807	0.64402	D	0.000003	D	0.98510	0.9503	M	0.88105	2.93	0.49051	D	0.999744	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.99581	1.0973	10	0.87932	D	0	-26.6895	13.242	0.60002	0.0:0.0:0.0:1.0	.	335;501	Q2NKP2;Q8N159	.;NAGS_HUMAN	L	335;501	ENSP00000293404:F501L	ENSP00000293404:F501L	F	+	1	0	NAGS	39441391	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.692000	0.74578	2.006000	0.58801	0.379000	0.24179	TTC		PASS	0.532	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		5	316	5	316	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48655853	48655853	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr17:48655853G>A	ENST00000359106.5	+	9	2229	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	CACNA1G_ENST00000503485.1_Silent_p.K743K|CACNA1G_ENST00000513689.2_Silent_p.K743K|CACNA1G_ENST00000515765.1_Silent_p.K743K|CACNA1G_ENST00000442258.2_Silent_p.K743K|CACNA1G_ENST00000358244.5_Silent_p.K743K|CACNA1G_ENST00000360761.4_Silent_p.K743K|CACNA1G_ENST00000510366.1_Silent_p.K743K|CACNA1G_ENST00000507896.1_Silent_p.K743K|CACNA1G_ENST00000502264.1_Silent_p.K743K|CACNA1G_ENST00000352832.5_Silent_p.K743K|CACNA1G_ENST00000507510.2_Silent_p.K743K|CACNA1G_ENST00000507609.1_Silent_p.K743K|CACNA1G_ENST00000416767.4_Silent_p.K743K|CACNA1G_ENST00000514181.1_Silent_p.K743K|CACNA1G_ENST00000514079.1_Silent_p.K743K|CACNA1G_ENST00000507336.1_Silent_p.K743K|CACNA1G_ENST00000429973.2_Silent_p.K743K|CACNA1G_ENST00000510115.1_Silent_p.K743K|CACNA1G_ENST00000505165.1_Silent_p.K743K|CACNA1G_ENST00000515411.1_Silent_p.K743K|CACNA1G_ENST00000515165.1_Silent_p.K743K|CACNA1G_ENST00000514717.1_Silent_p.K743K|CACNA1G_ENST00000354983.4_Silent_p.K743K|CACNA1G_ENST00000512389.1_Silent_p.K743K|CACNA1G_ENST00000513964.1_Silent_p.K743K	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	743					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.K743K(5)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGACAGCAAGTACTTTGGCC	0.597																																						uc002irk.1																			5	Substitution - coding silent(5)		lung(4)|breast(1)	breast(1)	1						c.(2227-2229)AAG>AAA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						77.0	81.0	79.0					17																	48655853		2049	4210	6259	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655853G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2229G>A	17.37:g.48655853G>A						CACNA1G_uc002iri.1_Silent_p.K743K|CACNA1G_uc002irj.1_Silent_p.K743K|CACNA1G_uc002irl.1_Silent_p.K743K|CACNA1G_uc002irm.1_Silent_p.K743K|CACNA1G_uc002irn.1_Silent_p.K743K|CACNA1G_uc002iro.1_Silent_p.K743K|CACNA1G_uc002irp.1_Silent_p.K743K|CACNA1G_uc002irq.1_Silent_p.K743K|CACNA1G_uc002irr.1_Silent_p.K743K|CACNA1G_uc002irs.1_Silent_p.K743K|CACNA1G_uc002irt.1_Silent_p.K743K|CACNA1G_uc002irv.1_Silent_p.K743K|CACNA1G_uc002irw.1_Silent_p.K743K|CACNA1G_uc002iru.1_Silent_p.K743K|CACNA1G_uc002irx.1_Silent_p.K656K|CACNA1G_uc002iry.1_Silent_p.K656K|CACNA1G_uc002irz.1_Silent_p.K656K|CACNA1G_uc002isa.1_Silent_p.K656K|CACNA1G_uc002isb.1_Silent_p.K656K|CACNA1G_uc002isc.1_Silent_p.K656K|CACNA1G_uc002isd.1_Silent_p.K656K|CACNA1G_uc002ise.1_Silent_p.K656K|CACNA1G_uc002isf.1_Silent_p.K656K|CACNA1G_uc002isg.1_Silent_p.K656K|CACNA1G_uc002ish.1_Silent_p.K656K|CACNA1G_uc002isi.1_Silent_p.K656K	p.K743K	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2601	+	Breast(11;6.7e-17)		743			Cytoplasmic (Potential).|II.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.2229G>A	CCDS45730.1																																																																																				PASS	0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		25	60	25	60	---	---	---	---
BTBD17	388419	broad.mit.edu	37	17	72352884	72352884	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr17:72352884C>T	ENST00000375366.3	-	3	1475	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	450					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R450H(1)		endometrium(1)|kidney(1)|lung(4)	6						CTCGGAGTTGCGCCGCTGCAG	0.677																																						uc002jkn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)CGC>CAC		BTB (POZ) domain containing 17 precursor							64.0	60.0	61.0					17																	72352884		2203	4300	6503	SO:0001583	missense	388419					extracellular region		g.chr17:72352884C>T		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1349G>A	17.37:g.72352884C>T	ENSP00000364515:p.Arg450His						p.R450H	NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN			3	1349	-			450						Missense_Mutation	SNP	ENST00000375366.3	37	c.1349G>A	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587634	0.86851	.	.	ENSG00000204347	ENST00000375366	D	0.84223	-1.82	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86941	0.2079	10	0.29301	T	0.29	-25.4859	18.7176	0.91682	0.0:1.0:0.0:0.0	.	450	A6NE02	BTBDH_HUMAN	H	450	ENSP00000364515:R450H	ENSP00000364515:R450H	R	-	2	0	BTBD17	69864479	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.739000	0.84976	2.416000	0.81992	0.556000	0.70494	CGC		PASS	0.677	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		3	32	3	32	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3534195	3534195	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:3534195C>A	ENST00000315677.3	-	10	3071	c.2476G>T	c.(2476-2478)Gac>Tac	p.D826Y	DLGAP1_ENST00000515196.2_Missense_Mutation_p.D826Y|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D826Y|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D510Y|DLGAP1_ENST00000539435.1_Missense_Mutation_p.D534Y|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D542Y|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D524Y|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D532Y|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D516Y|DLGAP1_ENST00000581699.1_Missense_Mutation_p.D532Y|DLGAP1_ENST00000400145.2_Missense_Mutation_p.D524Y|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D826Y	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	826					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.D826Y(1)|p.D534Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TACTTACTGTCTTCGGGCAGG	0.567																																						uc002kmf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2476-2478)GAC>TAC		discs large homolog-associated protein 1 isoform							90.0	83.0	85.0					18																	3534195		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534195C>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2476G>T	18.37:g.3534195C>A	ENSP00000316377:p.Asp826Tyr					DLGAP1_uc010wyz.1_Missense_Mutation_p.D826Y|DLGAP1_uc002kme.1_Missense_Mutation_p.D524Y|DLGAP1_uc010dkn.2_Missense_Mutation_p.D534Y|DLGAP1_uc010wyw.1_Missense_Mutation_p.D532Y|DLGAP1_uc010wyx.1_Missense_Mutation_p.D548Y|DLGAP1_uc010wyy.1_Missense_Mutation_p.D510Y|DLGAP1_uc002kmg.2_Missense_Mutation_p.D524Y	p.D826Y	NM_004746	NP_004737	O14490	DLGP1_HUMAN			7	2543	-		Colorectal(8;0.0257)	826					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.2476G>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081864	0.76528	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.93	5.93	0.95920	.	0.147073	0.64402	D	0.000009	T	0.41396	0.1157	M	0.75085	2.285	0.58432	D	0.999998	D;P;P;P;P;P;P;P	0.53885	0.963;0.896;0.708;0.773;0.86;0.955;0.88;0.659	P;P;P;P;P;P;P;P	0.54629	0.757;0.678;0.633;0.678;0.633;0.748;0.718;0.5	T	0.23084	-1.0198	10	0.87932	D	0	.	15.7726	0.78184	0.0:0.8645:0.1355:0.0	.	826;510;522;532;534;524;826;524	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	Y	826;524;542;516;532;510;534;524;826	ENSP00000316377:D826Y;ENSP00000383011:D524Y;ENSP00000383014:D542Y;ENSP00000383013:D516Y;ENSP00000383019:D532Y;ENSP00000437817:D510Y;ENSP00000446312:D534Y;ENSP00000383010:D524Y;ENSP00000445973:D826Y	ENSP00000316377:D826Y	D	-	1	0	DLGAP1	3524195	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.005000	0.70716	2.797000	0.96272	0.655000	0.94253	GAC		PASS	0.567	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			10	93	10	93	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5407707	5407707	+	Missense_Mutation	SNP	T	T	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:5407707T>A	ENST00000341928.2	-	15	2490	c.2150A>T	c.(2149-2151)aAg>aTg	p.K717M	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K717M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K548M|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	717	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.K717M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TACCTGTGCCTTGAGCTCTGC	0.383																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2149-2151)AAG>ATG		erythrocyte membrane protein band 4.1-like 3							87.0	84.0	85.0					18																	5407707		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5407707T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2150A>T	18.37:g.5407707T>A	ENSP00000343158:p.Lys717Met					EPB41L3_uc010wzh.1_Missense_Mutation_p.K548M|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Missense_Mutation_p.K109M	p.K717M	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			15	2236	-			717			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2150A>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.944502	0.53079	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933	D;D;D	0.83250	-1.68;-1.7;-1.68	6.07	6.07	0.98685	SAB (1);	0.161807	0.56097	D	0.000040	D	0.88239	0.6383	L	0.54323	1.7	0.80722	D	1	D;B;P	0.89917	1.0;0.195;0.948	D;B;P	0.73380	0.98;0.076;0.879	D	0.85054	0.0930	10	0.18710	T	0.47	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	548;109;717	F5GX05;B7Z8M8;Q9Y2J2	.;.;E41L3_HUMAN	M	717;548;717	ENSP00000343158:K717M;ENSP00000441174:K548M;ENSP00000341138:K717M	ENSP00000343158:K717M	K	-	2	0	EPB41L3	5397707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.466000	0.60148	2.326000	0.78906	0.533000	0.62120	AAG		PASS	0.383	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	119	12	119	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5428437	5428438	+	Missense_Mutation	DNP	CT	CT	TA			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:5428437_5428438CT>TA	ENST00000341928.2	-	9	1279_1280	c.939_940AG>TA	c.(937-942)ttAGga>ttTAga	p.313_314LG>FR	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.313_314LG>FR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.313_314LG>FR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.313_314LG>FR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.313_314LG>FR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	313	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L313_G314>FR(1)|p.G314R(1)|p.L313F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCACAAACTCCTAACATAATTT	0.386																																						uc002kmt.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(5)	5						c.(940-942)GGA>AGA|c.(937-939)TTA>TTT		erythrocyte membrane protein band 4.1-like 3																																				SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428437C>T|g.chr18:5428438T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.939_940delinsTA	18.37:g.5428437_5428438delinsTA	ENSP00000343158:p.L313_G314delinsFR					EPB41L3_uc010wzh.1_Missense_Mutation_p.G314R|EPB41L3_uc002kmu.1_Missense_Mutation_p.G314R|EPB41L3_uc010dkq.1_Missense_Mutation_p.G205R|EPB41L3_uc010dks.1_Missense_Mutation_p.G336R|EPB41L3_uc010wzh.1_Missense_Mutation_p.L313F|EPB41L3_uc002kmu.1_Missense_Mutation_p.L313F|EPB41L3_uc010dkq.1_Missense_Mutation_p.L204F|EPB41L3_uc010dks.1_Missense_Mutation_p.L335F	p.G314R|p.L313F	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			9	1026|1025	-			314|313			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.940G>A|c.939A>T	CCDS11838.1																																																																																				PASS	0.386	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		16	173|169	16	169	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12703145	12703145	+	5'Flank	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:12703145C>A	ENST00000262127.2	-	0	0				PSMG2_ENST00000317615.6_Silent_p.A13A|PSMG2_ENST00000590217.1_Silent_p.A13A|CEP76_ENST00000586887.1_5'Flank|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_5'Flank	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.A13A(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGACCTTGCCGGCTTCACCC	0.692																																						uc002krk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)GCC>GCA		proteasome (prosome, macropain) assembly							24.0	22.0	23.0					18																	12703145		2203	4300	6503	SO:0001631	upstream_gene_variant	56984				proteasome assembly	nucleus	protein binding	g.chr18:12703145C>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701		18.37:g.12703145C>A	Exception_encountered					PSMG2_uc002krg.2_Intron|PSMG2_uc002krj.1_Silent_p.A13A|CEP76_uc002krh.3_5'Flank|CEP76_uc002kri.2_5'Flank|CEP76_uc010wzz.1_5'Flank|CEP76_uc010xaa.1_5'Flank|CEP76_uc010xab.1_5'Flank	p.A13A	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN			1	82	+			13					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Silent	SNP	ENST00000262127.2	37	c.39C>A	CCDS11861.1																																																																																				PASS	0.692	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		3	42	3	42	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21451477	21451477	+	Missense_Mutation	SNP	G	G	A	rs557657738	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:21451477G>A	ENST00000313654.9	+	38	5091	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	LAMA3_ENST00000587184.1_5'Flank|LAMA3_ENST00000399516.3_Missense_Mutation_p.R1617H|LAMA3_ENST00000269217.6_5'Flank	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1617	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R1617H(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCAGATGTGCGCATCCAAGGC	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		17400	0.002		0.0	False		,,,				2504	0.0					uc002kuq.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4849-4851)CGC>CAC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72.0	79.0	77.0					18																	21451477		2072	4208	6280	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21451477G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4850G>A	18.37:g.21451477G>A	ENSP00000324532:p.Arg1617His					LAMA3_uc002kur.2_Missense_Mutation_p.R1617H|LAMA3_uc002kus.3_5'Flank|LAMA3_uc002kut.3_5'Flank	p.R1617H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			38	4936	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1617			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4850G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	7.195	0.592217	0.13812	.	.	ENSG00000053747	ENST00000313654;ENST00000399516	T;T	0.36340	1.26;1.26	5.43	-2.75	0.05914	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	.	.	.	.	T	0.15522	0.0374	N	0.04724	-0.175	0.58432	D	0.999998	B;B	0.14012	0.009;0.002	B;B	0.08055	0.003;0.002	T	0.22521	-1.0214	9	0.15066	T	0.55	.	12.8697	0.57958	0.8089:0.0:0.1911:0.0	.	1617;1617	Q6VU67;Q16787	.;LAMA3_HUMAN	H	1617	ENSP00000324532:R1617H;ENSP00000382432:R1617H	ENSP00000324532:R1617H	R	+	2	0	LAMA3	19705475	0.998000	0.40836	0.405000	0.26409	0.950000	0.60333	1.773000	0.38563	-0.376000	0.07943	0.655000	0.94253	CGC		PASS	0.557	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		29	85	29	85	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28588002	28588002	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:28588002G>C	ENST00000360428.4	-	11	1723	c.1643C>G	c.(1642-1644)aCa>aGa	p.T548R	DSC3_ENST00000434452.1_Missense_Mutation_p.T548R	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	548	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.T548R(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGCCAGGACTGTAATATTATA	0.303																																						uc002kwj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1642-1644)ACA>AGA		desmocollin 3 isoform Dsc3a preproprotein							40.0	41.0	40.0					18																	28588002		2203	4295	6498	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588002G>C	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1643C>G	18.37:g.28588002G>C	ENSP00000353608:p.Thr548Arg					DSC3_uc002kwi.3_Missense_Mutation_p.T548R	p.T548R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		11	1798	-			548			Cadherin 4.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1643C>G	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831207	0.50845	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.55760	0.5;0.5	5.08	5.08	0.68730	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	N	0.004228	T	0.74921	0.3780	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.79784	0.962;0.993	T	0.78094	-0.2338	10	0.87932	D	0	.	18.6256	0.91336	0.0:0.0:1.0:0.0	.	548;548	Q14574;Q14574-2	DSC3_HUMAN;.	R	548	ENSP00000353608:T548R;ENSP00000392068:T548R	ENSP00000353608:T548R	T	-	2	0	DSC3	26842000	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	4.895000	0.63214	2.793000	0.96121	0.655000	0.94253	ACA		PASS	0.303	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		5	78	5	78	---	---	---	---
DSC2	1824	broad.mit.edu	37	18	28648028	28648028	+	Missense_Mutation	SNP	A	A	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:28648028A>T	ENST00000280904.6	-	16	3102	c.2659T>A	c.(2659-2661)Ttg>Atg	p.L887M	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	887					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L887M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTGGGCTCCAAATTATCCAAA	0.403																																						uc002kwl.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2659-2661)TTG>ATG		desmocollin 2 isoform Dsc2a preproprotein							86.0	76.0	79.0					18																	28648028		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28648028A>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2659T>A	18.37:g.28648028A>T	ENSP00000280904:p.Leu887Met					DSC2_uc002kwk.3_3'UTR	p.L887M	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		16	3113	-			887			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000280904.6	37	c.2659T>A	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820493	0.71028	.	.	ENSG00000134755	ENST00000280904;ENST00000438199;ENST00000399347	T	0.80653	-1.4	5.87	-0.792	0.10925	Cadherin, cytoplasmic domain (1);	0.000000	0.26987	N	0.021486	D	0.89326	0.6683	M	0.90595	3.13	0.46437	D	0.99904	D	0.89917	1.0	D	0.97110	1.0	D	0.88524	0.3098	10	0.56958	D	0.05	.	11.5224	0.50560	0.5071:0.0:0.4929:0.0	.	887	Q02487	DSC2_HUMAN	M	887;653;900	ENSP00000280904:L887M	ENSP00000280904:L887M	L	-	1	2	DSC2	26902026	0.954000	0.32549	0.991000	0.47740	0.934000	0.57294	1.256000	0.32921	-0.003000	0.14444	0.533000	0.62120	TTG		PASS	0.403	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		22	104	22	104	---	---	---	---
RIT2	6014	broad.mit.edu	37	18	40323576	40323576	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:40323576C>T	ENST00000326695.5	-	5	707	c.536G>A	c.(535-537)aGg>aAg	p.R179K	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	179					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R179K(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCGAATTTCCCTCACTAAGCC	0.423																																						uc002lav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)AGG>AAG		Ras-like without CAAX 2							122.0	122.0	122.0					18																	40323576		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40323576C>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.536G>A	18.37:g.40323576C>T	ENSP00000321805:p.Arg179Lys					RIT2_uc010dnf.2_3'UTR	p.R179K	NM_002930	NP_002921	Q99578	RIT2_HUMAN			5	709	-			179					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.536G>A	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313160	0.81358	.	.	ENSG00000152214	ENST00000326695	T	0.77098	-1.07	5.41	4.54	0.55810	.	0.000000	0.64402	D	0.000002	D	0.82365	0.5021	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	D	0.83822	0.0247	10	0.62326	D	0.03	.	14.2241	0.65848	0.0:0.9279:0.0:0.0721	.	179	Q99578	RIT2_HUMAN	K	179	ENSP00000321805:R179K	ENSP00000321805:R179K	R	-	2	0	RIT2	38577574	0.997000	0.39634	0.996000	0.52242	0.966000	0.64601	4.027000	0.57239	1.299000	0.44798	0.655000	0.94253	AGG		PASS	0.423	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		38	142	38	142	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47432926	47432926	+	Silent	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr18:47432926C>T	ENST00000285039.7	-	19	2576	c.2277G>A	c.(2275-2277)ctG>ctA	p.L759L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	759	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.L759L(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCAGCCCGCAGCTTCTCCA	0.557																																						uc002leb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2275-2277)CTG>CTA		myosin VB							61.0	64.0	63.0					18																	47432926		1923	4125	6048	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47432926C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2277G>A	18.37:g.47432926C>T							p.L759L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	19	2565	-			759			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.2277G>A	CCDS42436.1																																																																																				PASS	0.557	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			16	71	16	71	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2334702	2334702	+	RNA	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr19:2334702G>T	ENST00000452401.2	+	0	248							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.P56P(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCGCACGACCTCA	0.677																																						uc002lvs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CCG>CCT		signal peptide peptidase-like 2B isoform 2							34.0	37.0	36.0					19																	2334702		1983	4139	6122			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2334702G>T		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2334702G>T						SPPL2B_uc010dsw.1_Silent_p.P28P|SPPL2B_uc010dsy.1_Silent_p.P28P|SPPL2B_uc010dsz.1_Silent_p.P56P|SPPL2B_uc002lvr.2_Silent_p.P56P	p.P56P	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	248	+		Hepatocellular(1079;0.137)	56			Cytoplasmic (Potential).|PA.		D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	Silent	SNP	ENST00000452401.2	37	c.168G>T																																																																																					PASS	0.677	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		5	18	5	18	---	---	---	---
S1PR4	8698	broad.mit.edu	37	19	3179893	3179893	+	Missense_Mutation	SNP	G	G	C			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr19:3179893G>C	ENST00000246115.3	+	1	1158	c.1103G>C	c.(1102-1104)aGc>aCc	p.S368T		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	368					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S368T(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGCTCGCTCAGCTTTCGGATG	0.672																																					GBM(82;318 1638 33279 49708)	uc002lxg.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(1102-1104)AGC>ACC		sphingosine-1-phosphate receptor 4 precursor							40.0	50.0	47.0					19																	3179893		2156	4213	6369	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179893G>C	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1103G>C	19.37:g.3179893G>C	ENSP00000246115:p.Ser368Thr						p.S368T	NM_003775	NP_003766	O95977	S1PR4_HUMAN			1	1128	+			368			Cytoplasmic (By similarity).		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.1103G>C	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394359	0.62066	.	.	ENSG00000125910	ENST00000246115	D	0.81659	-1.52	3.94	3.94	0.45596	.	0.770543	0.11911	N	0.517668	T	0.70815	0.3267	L	0.29908	0.895	0.46981	D	0.999272	P	0.47409	0.895	P	0.44518	0.452	T	0.62982	-0.6738	10	0.16896	T	0.51	.	9.4501	0.38721	0.1051:0.0:0.8949:0.0	.	368	O95977	S1PR4_HUMAN	T	368	ENSP00000246115:S368T	ENSP00000246115:S368T	S	+	2	0	S1PR4	3130893	0.936000	0.31750	0.981000	0.43875	0.730000	0.41778	1.623000	0.37008	2.053000	0.61076	0.561000	0.74099	AGC		PASS	0.672	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		39	137	39	137	---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13941421	13941421	+	Missense_Mutation	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr19:13941421G>A	ENST00000254323.2	+	13	2716	c.2527G>A	c.(2527-2529)Gcc>Acc	p.A843T	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A677T	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	843							zinc ion binding (GO:0008270)	p.A843T(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAGCCACCCTGCCGTCAACGA	0.667																																						uc002mxh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(2527-2529)GCC>ACC		zinc finger, SWIM-type containing 4							93.0	86.0	88.0					19																	13941421		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941421G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2527G>A	19.37:g.13941421G>A	ENSP00000254323:p.Ala843Thr					ZSWIM4_uc010xng.1_Missense_Mutation_p.A766T	p.A843T	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2716	+			843						Missense_Mutation	SNP	ENST00000254323.2	37	c.2527G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760366	0.89932	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.49720	0.77;0.77	4.37	4.37	0.52481	.	0.000000	0.56097	D	0.000024	T	0.61426	0.2346	M	0.69358	2.11	0.53005	D	0.999964	D;P	0.63880	0.993;0.575	D;P	0.63033	0.91;0.469	T	0.58725	-0.7586	10	0.20519	T	0.43	-14.9723	14.3999	0.67037	0.0:0.0:1.0:0.0	.	677;843	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	T	843;677	ENSP00000254323:A843T;ENSP00000405278:A677T	ENSP00000254323:A843T	A	+	1	0	ZSWIM4	13802421	1.000000	0.71417	0.738000	0.30950	0.991000	0.79684	9.352000	0.97076	1.971000	0.57363	0.491000	0.48974	GCC		PASS	0.667	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		50	184	50	184	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20044847	20044847	+	Silent	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr19:20044847C>T	ENST00000343769.5	+	4	1111	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F361F(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GACATGAGTTCATTCATATGG	0.373																																						uc002non.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1081-1083)TTC>TTT		zinc finger protein 93							101.0	99.0	100.0					19																	20044847		2203	4300	6503	SO:0001819	synonymous_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044847C>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1083C>T	19.37:g.20044847C>T							p.F361F	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	1194	+			361			C2H2-type 8.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	c.1083C>T	CCDS32973.1																																																																																				PASS	0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		14	90	14	90	---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39798962	39798962	+	Missense_Mutation	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr19:39798962C>T	ENST00000248668.4	-	2	1626	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	543						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V495I(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCGACGATGACGCCCCCGATG	0.652																																						uc002okw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1627-1629)GTC>ATC		leucine rich repeat and fibronectin type III							24.0	29.0	27.0					19																	39798962		2178	4280	6458	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798962C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1627G>A	19.37:g.39798962C>T	ENSP00000248668:p.Val543Ile						p.V543I	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	1627	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		543			Helical; (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1627G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	5.815	0.334720	0.11013	.	.	ENSG00000128011	ENST00000248668	T	0.59364	0.27	4.17	4.17	0.49024	.	0.000000	0.33691	N	0.004651	T	0.26991	0.0661	N	0.04203	-0.255	0.37309	D	0.909024	B	0.26708	0.157	B	0.26864	0.074	T	0.32798	-0.9893	10	0.02654	T	1	.	7.7631	0.28963	0.0:0.8885:0.0:0.1115	.	543	Q9P244	LRFN1_HUMAN	I	543	ENSP00000248668:V543I	ENSP00000248668:V543I	V	-	1	0	LRFN1	44490802	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	3.823000	0.55715	2.176000	0.68965	0.462000	0.41574	GTC		PASS	0.652	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		8	20	8	20	---	---	---	---
CRX	1406	broad.mit.edu	37	19	48342762	48342762	+	Silent	SNP	G	G	A	rs281865202		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr19:48342762G>A	ENST00000221996.7	+	4	644	c.438G>A	c.(436-438)ctG>ctA	p.L146L	CRX_ENST00000539067.1_Silent_p.L146L|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	146			Missing (in LCA7). {ECO:0000269|PubMed:9792858}.		circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor activity (GO:0003700)	p.L146L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GTCCCCCTCTGCCCGGCCCCT	0.672																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(436-438)CTG>CTA		cone-rod homeobox protein							44.0	47.0	46.0					19																	48342762		2202	4299	6501	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342762G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.438G>A	19.37:g.48342762G>A							p.L146L	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	642	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	146		Missing (in LCA7).			Q0QD45	Silent	SNP	ENST00000221996.7	37	c.438G>A	CCDS12706.1																																																																																				PASS	0.672	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		40	114	40	114	---	---	---	---
BAX	581	broad.mit.edu	37	19	49459500	49459500	+	Missense_Mutation	SNP	C	C	G			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr19:49459500C>G	ENST00000345358.7	+	4	331	c.279C>G	c.(277-279)ttC>ttG	p.F93L	BAX_ENST00000354470.3_Missense_Mutation_p.F44L|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.F93L|BAX_ENST00000539787.1_Missense_Mutation_p.F93L|BAX_ENST00000293288.8_Missense_Mutation_p.F93L	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	93					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.F93L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		AGGTCTTTTTCCGAGTGGCAG	0.582																																						uc002plk.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(277-279)TTC>TTG		BCL2-associated X protein isoform alpha							74.0	80.0	78.0					19																	49459500		2203	4300	6503	SO:0001583	missense	581				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	g.chr19:49459500C>G		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.279C>G	19.37:g.49459500C>G	ENSP00000263262:p.Phe93Leu					BAX_uc002plf.1_Missense_Mutation_p.F93L|BAX_uc002plg.1_Missense_Mutation_p.F56L|BAX_uc002plh.1_Missense_Mutation_p.F15L|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Missense_Mutation_p.F93L|BAX_uc002pll.2_Missense_Mutation_p.F44L|BAX_uc002plm.2_Missense_Mutation_p.F15L	p.F93L	NM_138761	NP_620116	Q07812	BAX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)	4	348	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	93					A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	ENST00000345358.7	37	c.279C>G	CCDS12742.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.16|14.16	2.451683|2.451683	0.43531|0.43531	.|.	.|.	ENSG00000087088|ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288|ENST00000506183	T;T;T;T;T|.	0.10192|.	2.9;2.9;2.9;2.9;2.9|.	4.05|4.05	3.03|3.03	0.35002|0.35002	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);|.	0.237658|.	0.43110|.	N|.	0.000619|.	T|T	0.36082|0.36082	0.0954|0.0954	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.24186|.	0.023;0.094;0.029;0.099|.	B;B;B;B|.	0.23018|.	0.012;0.043;0.012;0.03|.	T|T	0.08411|0.08411	-1.0723|-1.0723	10|5	0.25106|.	T|.	0.35|.	-13.4883|-13.4883	8.037|8.037	0.30499|0.30499	0.0:0.8901:0.0:0.1099|0.0:0.8901:0.0:0.1099	.|.	44;93;93;93|.	Q07812-4;Q07812;Q07812-8;Q07812-2|.	.;BAX_HUMAN;.;.|.	L|C	93;93;93;44;93|27	ENSP00000441413:F93L;ENSP00000263262:F93L;ENSP00000389971:F93L;ENSP00000346461:F44L;ENSP00000293288:F93L|.	ENSP00000293288:F93L|.	F|S	+|+	3|2	2|0	BAX|BAX	54151312|54151312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	1.690000|1.690000	0.37711|0.37711	1.299000|1.299000	0.44798|0.44798	-0.244000|-0.244000	0.11960|0.11960	TTC|TCC		PASS	0.582	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		31	118	31	118	---	---	---	---
ENTPD6	955	broad.mit.edu	37	20	25201919	25201919	+	Missense_Mutation	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr20:25201919G>T	ENST00000376652.4	+	11	1158	c.995G>T	c.(994-996)gGa>gTa	p.G332V	ENTPD6_ENST00000354989.5_Missense_Mutation_p.G315V|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000360031.2_Missense_Mutation_p.G331V			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	332					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.G332V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGTTTCAAAGGAGAGTGGGAA	0.517																																						uc002wuj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(994-996)GGA>GTA		ectonucleoside triphosphate diphosphohydrolase 6							143.0	125.0	131.0					20																	25201919		2203	4300	6503	SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25201919G>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.995G>T	20.37:g.25201919G>T	ENSP00000365840:p.Gly332Val					ENTPD6_uc010zsy.1_Missense_Mutation_p.G332V|ENTPD6_uc010gdj.1_Missense_Mutation_p.G304V|ENTPD6_uc010zsz.1_Missense_Mutation_p.G114V|ENTPD6_uc002wum.2_Missense_Mutation_p.G315V|ENTPD6_uc010zta.1_Missense_Mutation_p.G332V|ENTPD6_uc002wun.2_Intron|ENTPD6_uc002wuk.2_Missense_Mutation_p.G331V|ENTPD6_uc002wul.2_Missense_Mutation_p.G331V|ENTPD6_uc010ztb.1_Missense_Mutation_p.G304V|ENTPD6_uc010ztc.1_Missense_Mutation_p.G304V|ENTPD6_uc002wuo.2_Missense_Mutation_p.G84V|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdk.1_5'Flank|ENTPD6_uc010gdl.1_5'Flank	p.G332V	NM_001247	NP_001238	O75354	ENTP6_HUMAN			11	1175	+			332			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.995G>T	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.32|19.32|19.32	3.805658|3.805658|3.805658	0.70682|0.70682|0.70682	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000433417|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000425813|ENST00000376666	.|T;T;T;T|.	.|0.11821|.	.|2.74;2.74;2.74;2.74|.	5.64|5.64|5.64	3.71|3.71|3.71	0.42584|0.42584|0.42584	.|.|.	.|0.217807|.	.|0.47852|.	.|D|.	.|0.000216|.	.|T|T	.|0.62332|0.62332	.|0.2419|0.2419	M|M|M	0.71581|0.71581|0.71581	2.175|2.175|2.175	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;B;P;D;D;D|.	.|0.71674|.	.|0.996;0.892;0.436;0.881;0.986;0.998;0.998|.	.|D;P;B;P;P;D;D|.	.|0.70016|.	.|0.967;0.771;0.41;0.69;0.898;0.948;0.948|.	.|T|T	.|0.59836|0.59836	.|-0.7379|-0.7379	.|10|5	.|0.52906|.	.|T|.	.|0.07|.	-12.1286|-12.1286|-12.1286	6.4143|6.4143|6.4143	0.21708|0.21708|0.21708	0.1624:0.1497:0.6879:0.0|0.1624:0.1497:0.6879:0.0|0.1624:0.1497:0.6879:0.0	.|.|.	.|314;332;332;315;331;331;332|.	.|B4DDM7;B4DNK6;E7EP89;O75354-2;D3DW49;Q5QPJ2;O75354|.	.|.;.;.;.;.;.;ENTP6_HUMAN|.	X|V|S	253|315;331;252;228;332;284|155	.|ENSP00000347084:G315V;ENSP00000353131:G331V;ENSP00000365840:G332V;ENSP00000390646:G284V|.	.|ENSP00000347084:G315V|.	E|G|R	+|+|+	1|2|3	0|0|2	ENTPD6|ENTPD6|ENTPD6	25149919|25149919|25149919	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.927000|0.927000|0.927000	0.36925|0.36925|0.36925	0.962000|0.962000|0.962000	0.63368|0.63368|0.63368	5.401000|5.401000|5.401000	0.66326|0.66326|0.66326	0.868000|0.868000|0.868000	0.35678|0.35678|0.35678	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|GGA|AGG		PASS	0.517	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			15	53	15	53	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19371175	19371175	+	Silent	SNP	G	G	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr22:19371175G>T	ENST00000263208.5	-	13	1639	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	HIRA_ENST00000541063.1_Silent_p.I417I|HIRA_ENST00000546308.1_Silent_p.I417I|HIRA_ENST00000340170.4_Silent_p.I461I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	461	Interaction with ASF1A.|Interaction with CCNA1.|Required for repression of histone gene transcription.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I461I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGAGAGGCGTGATTCTTCTCC	0.458																																						uc002zpf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1381-1383)ATC>ATA		HIR histone cell cycle regulation defective							186.0	156.0	166.0					22																	19371175		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19371175G>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1383C>A	22.37:g.19371175G>T						HIRA_uc011agx.1_Silent_p.I327I|HIRA_uc010grn.1_Silent_p.I461I|HIRA_uc010gro.1_Silent_p.I417I|HIRA_uc010grp.2_RNA	p.I461I	NM_003325	NP_003316	P54198	HIRA_HUMAN			13	1603	-	Colorectal(54;0.0993)		461	Missing: Abrogates binding to ASF1A.|I->D: Abrogates binding to ASF1A.		Interaction with CCNA1.|Interaction with ASF1A.|Required for repression of histone gene transcription.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.1383C>A	CCDS13759.1																																																																																				PASS	0.458	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		23	209	23	209	---	---	---	---
BCR	613	broad.mit.edu	37	22	23596020	23596020	+	Silent	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr22:23596020C>T	ENST00000305877.8	+	2	2065	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	BCR_ENST00000359540.3_Silent_p.C438C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	438					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C438C(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GATACGGCTGCGCTGCAGACC	0.602			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	uc002zww.2				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(1312-1314)TGC>TGT		breakpoint cluster region isoform 1							63.0	55.0	58.0					22																	23596020		2188	4287	6475	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23596020C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1314C>T	22.37:g.23596020C>T						BCR_uc002zwx.2_Silent_p.C438C|BCR_uc011aiy.1_Silent_p.C27C|BCR_uc010gtx.1_5'UTR	p.C438C	NM_004327	NP_004318	P11274	BCR_HUMAN			2	1910	+			438					P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.1314C>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	3.737	-0.054356	0.07362	.	.	ENSG00000186716	ENST00000334149	.	.	.	5.37	-5.18	0.02840	.	.	.	.	.	T	0.63367	0.2505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63717	-0.6574	5	0.29301	T	0.29	.	15.7737	0.78193	0.0:0.6381:0.0:0.3619	.	.	.	.	V	103	.	ENSP00000335450:A103V	A	+	2	0	BCR	21926020	0.008000	0.16893	0.072000	0.20136	0.121000	0.20230	-1.316000	0.02710	-1.074000	0.03132	-0.918000	0.02743	GCG		PASS	0.602	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		19	49	19	49	---	---	---	---
NHP2L1	4809	broad.mit.edu	37	22	42071111	42071111	+	Silent	SNP	C	C	T			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr22:42071111C>T	ENST00000401959.1	-	4	529	c.213G>A	c.(211-213)ctG>ctA	p.L71L	NHP2L1_ENST00000355257.3_Silent_p.L71L|NHP2L1_ENST00000402458.1_Silent_p.L75L|NHP2L1_ENST00000215956.5_Silent_p.L71L|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	71					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)	p.L71L(1)		endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						CTTCACACAGCAGCGGCAGGT	0.587																																						uc003bat.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)CTG>CTA		NHP2 non-histone chromosome protein 2-like 1							77.0	72.0	74.0					22																	42071111		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.chr22:42071111C>T		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.213G>A	22.37:g.42071111C>T						NHP2L1_uc003bau.2_Silent_p.L71L|NHP2L1_uc003bav.2_Silent_p.L71L|NHP2L1_uc003baw.2_Silent_p.L71L	p.L71L	NM_005008	NP_004999	P55769	NH2L1_HUMAN			3	407	-			71						Silent	SNP	ENST00000401959.1	37	c.213G>A	CCDS14022.1																																																																																				PASS	0.587	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		18	90	18	90	---	---	---	---
ARHGAP8	23779	broad.mit.edu	37	22	45221390	45221390	+	Missense_Mutation	SNP	C	C	A	rs368897846		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chr22:45221390C>A	ENST00000389774.2	+	8	747	c.606C>A	c.(604-606)caC>caA	p.H202Q	ARHGAP8_ENST00000336963.4_Missense_Mutation_p.H171Q|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.H302Q|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.H381Q|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.H171Q|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.H293Q|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.H381Q	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	202					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.H202Q(1)|p.H207Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		AGAGCCTGCACGAGGGCCGGA	0.662																																						uc003bfd.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1141-1143)CAC>CAA		Rho GTPase activating protein 8 isoform 2							35.0	37.0	36.0					22																	45221390		2202	4299	6501	SO:0001583	missense	553158							g.chr22:45221390C>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.606C>A	22.37:g.45221390C>A	ENSP00000374424:p.His202Gln					PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.H302Q|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.H293Q|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.H207Q|ARHGAP8_uc003bfi.2_Missense_Mutation_p.H171Q|ARHGAP8_uc010gzv.2_Missense_Mutation_p.H171Q|ARHGAP8_uc003bfj.2_Missense_Mutation_p.H202Q|ARHGAP8_uc003bfk.2_Missense_Mutation_p.H171Q|ARHGAP8_uc003bfl.2_RNA	p.H381Q	NM_181335	NP_851852					12	1415	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.1143C>A	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	4.347|4.347	0.063764|0.063764	0.08388|0.08388	.|.	.|.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484|ENSG00000248405	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099|ENST00000515632	T;T;T;T;T;T;T|.	0.58358|.	2.38;2.33;2.33;2.38;2.33;0.34;2.33|.	4.46|4.46	1.03|1.03	0.20045|0.20045	.|.	0.722205|.	0.11312|.	U|.	0.576981|.	T|T	0.45094|0.45094	0.1325|0.1325	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.23128|.	0.002;0.001;0.033;0.002;0.001;0.005;0.08|.	B;B;B;B;B;B;B|.	0.19946|.	0.003;0.0;0.027;0.003;0.003;0.007;0.026|.	T|T	0.35226|0.35226	-0.9797|-0.9797	10|5	0.07813|.	T|.	0.8|.	.|.	8.4748|8.4748	0.33007|0.33007	0.3768:0.4931:0.1301:0.0|0.3768:0.4931:0.1301:0.0	.|.	207;171;207;202;212;381;302|.	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3|.	.;.;.;RHG08_HUMAN;.;.;.|.	Q|K	302;381;381;293;202;171;171|225	ENSP00000354732:H302Q;ENSP00000262731:H381Q;ENSP00000429240:H381Q;ENSP00000374423:H293Q;ENSP00000374424:H202Q;ENSP00000337287:H171Q;ENSP00000348407:H171Q|.	ENSP00000337287:H171Q|.	H|T	+|+	3|2	2|0	PRR5-ARHGAP8;ARHGAP8|PRR5-ARHGAP8	43600054|43600054	0.233000|0.233000	0.23772|0.23772	0.026000|0.026000	0.17262|0.17262	0.101000|0.101000	0.19017|0.19017	0.419000|0.419000	0.21247|0.21247	1.055000|1.055000	0.40461|0.40461	0.556000|0.556000	0.70494|0.70494	CAC|ACG		PASS	0.662	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		12	28	12	28	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			6	Substitution - coding silent(6)		lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	ovary(2)	2						c.(1210-1212)ACC>ACG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_uc004ebw.2_Silent_p.T404T	p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1502	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				PASS	0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	110	4	110	---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	114141480	114141480	+	Silent	SNP	G	G	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chrX:114141480G>A	ENST00000276198.1	+	6	1607	c.879G>A	c.(877-879)gaG>gaA	p.E293E	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.E293E	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	293					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.E293E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGAAGAAGGAGAGACGTCCTA	0.483																																						uc004epu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(877-879)GAG>GAA		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						136.0	126.0	130.0					X																	114141480		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141480G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.879G>A	X.37:g.114141480G>A						HTR2C_uc010nqc.1_Silent_p.E293E|HTR2C_uc004epv.1_3'UTR	p.E293E	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1607	+			293			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.879G>A	CCDS14564.1																																																																																				PASS	0.483	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		62	68	62	68	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118215438	118215438	+	Missense_Mutation	SNP	C	C	A			TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chrX:118215438C>A	ENST00000402510.2	-	14	4983	c.4984G>T	c.(4984-4986)Gtt>Ttt	p.V1662F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1662								p.V1662F(1)|p.V1486F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATGGCAGGAACTTGCAGTATC	0.458																																						uc004era.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(4984-4986)GTT>TTT		hypothetical protein LOC57481							150.0	137.0	141.0					X																	118215438		1904	4105	6009	SO:0001583	missense	57481							g.chrX:118215438C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4984G>T	X.37:g.118215438C>A	ENSP00000384670:p.Val1662Phe						p.V1662F	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			14	4984	-			1662					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4984G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.33|15.33	2.801723|2.801723	0.50315|0.50315	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.11169	.|2.8	4.91|4.91	-3.19|-3.19	0.05171|0.05171	.|.	.|.	.|.	.|.	.|.	T|T	0.08537|0.08537	0.0212|0.0212	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.31859	.|0.343	.|B	.|0.32465	.|0.146	T|T	0.29731|0.29731	-1.0002|-1.0002	5|9	.|0.42905	.|T	.|0.14	.|.	1.086|1.086	0.01653|0.01653	0.1328:0.2613:0.2684:0.3375|0.1328:0.2613:0.2684:0.3375	.|.	.|1662	.|Q9ULL0	.|K1210_HUMAN	I|F	1068|1662	.|ENSP00000384670:V1662F	.|ENSP00000384670:V1662F	S|V	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118099466|118099466	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.746000|-0.746000	0.04829|0.04829	-1.050000|-1.050000	0.03230|0.03230	-0.315000|-0.315000	0.08773|0.08773	AGT|GTT		PASS	0.458	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		26	56	26	56	---	---	---	---
VGLL1	51442	broad.mit.edu	37	X	135632948	135632948	+	Missense_Mutation	SNP	G	G	A	rs138345606	byFrequency	TCGA-18-4721-01A-01D-1441-08	TCGA-18-4721-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d2ab2555-7288-47a4-a80c-bf62d65b67b8	f7b631ae-ee98-499b-9d26-dc945e7ac3b8	g.chrX:135632948G>A	ENST00000370634.3	+	4	826	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MIR934_ENST00000401241.1_RNA|VGLL1_ENST00000470358.1_3'UTR	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R219H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TATGTATCTCGTGGATCTGCC	0.423																																						uc004ezy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)CGT>CAT		vestigial like 1		G	HIS/ARG	1,3834		0,0,1,1632,570	145.0	136.0	139.0		656	-2.5	0.0	X	dbSNP_134	139	0,6728		0,0,0,2428,1872	no	missense	VGLL1	NM_016267.3	29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	219/259	135632948	1,10562	2203	4300	6503	SO:0001583	missense	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135632948G>A	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.656G>A	X.37:g.135632948G>A	ENSP00000359668:p.Arg219His					MIR934_hsa-mir-934|MI0005756_5'Flank	p.R219H	NM_016267	NP_057351	Q99990	VGLL1_HUMAN			4	826	+	Acute lymphoblastic leukemia(192;0.000127)		219					Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	c.656G>A	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	G	9.015	0.983472	0.18889	2.61E-4	0.0	ENSG00000102243	ENST00000370634;ENST00000430688;ENST00000456412	T;T	0.60171	0.76;0.21	5.15	-2.54	0.06307	.	1.249760	0.05308	N	0.524240	T	0.33352	0.0860	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.08055	0.003	T	0.18587	-1.0332	10	0.48119	T	0.1	-0.0024	5.5105	0.16878	0.5105:0.0:0.3508:0.1387	.	219	Q99990	VGLL1_HUMAN	H	219;76;21	ENSP00000359668:R219H;ENSP00000388868:R21H	ENSP00000359668:R219H	R	+	2	0	VGLL1	135460614	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.722000	0.04958	-0.505000	0.06568	0.600000	0.82982	CGT		PASS	0.423	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		25	37	25	37	---	---	---	---
