#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs555608997	byFrequency	TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458													N|||	1273	0.254193	0.2209	0.2378	5008	,	,		7147	0.4355		0.2455	False		,,,				2504	0.1329					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1366-1368)gtA>gtG		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828112A>G	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1368A>G	9.37:g.43828112A>G							p.V456V	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1761	+			456			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1368A>G	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	N	5.461	0.270213	0.10349	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.6	-5.2	0.02823	.	.	.	.	.	T	0.15782	0.0380	.	.	.	0.51767	P	6.499999999998174E-5	.	.	.	.	.	.	T	0.22034	-1.0228	3	.	.	.	.	0.8201	0.01109	0.4314:0.1307:0.1593:0.2786	.	.	.	.	C	505	.	.	Y	+	2	0	CNTNAP3B	43768108	0.072000	0.21174	0.010000	0.14722	0.245000	0.25701	-0.184000	0.09698	-1.395000	0.02074	-1.123000	0.02005	TAT		0.458	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	40	0	0	0	1	0	3	40				
LMTK2	22853	broad.mit.edu	37	7	97820972	97820972	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr7:97820972G>A	ENST00000297293.5	+	11	1488	c.1195G>A	c.(1195-1197)Gcg>Acg	p.A399T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAAGAGACCCGCGGCTGAAGA	0.507																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1195-1197)Gcg>Acg		lemur tyrosine kinase 2							57.0	55.0	56.0					7																	97820972		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820972G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1195G>A	7.37:g.97820972G>A	ENSP00000297293:p.Ala399Thr						p.A399T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1488	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		399			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1195G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387873	0.04932	.	.	ENSG00000164715	ENST00000297293	T	0.58210	0.35	5.52	4.41	0.53225	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097851	0.64402	D	0.000002	T	0.12774	0.0310	N	0.00308	-1.67	0.31677	N	0.643641	B	0.18610	0.029	B	0.14578	0.011	T	0.40701	-0.9549	10	0.02654	T	1	.	4.6036	0.12366	0.275:0.0:0.725:0.0	.	399	Q8IWU2	LMTK2_HUMAN	T	399	ENSP00000297293:A399T	ENSP00000297293:A399T	A	+	1	0	LMTK2	97658908	1.000000	0.71417	0.025000	0.17156	0.156000	0.22039	6.086000	0.71352	2.767000	0.95098	0.655000	0.94253	GCG		0.507	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		22	24	0	0	0	1	0	22	24				
ASAP2	8853	broad.mit.edu	37	2	9540191	9540191	+	Silent	SNP	G	G	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr2:9540191G>T	ENST00000281419.3	+	25	3064	c.2724G>T	c.(2722-2724)ccG>ccT	p.P908P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P863P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	908	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.P908P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGCCAACCGAGAGGACCTG	0.517																																						ENST00000281419.3																			1	Substitution - coding silent(1)	p.P908P(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2722-2724)ccG>ccT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							130.0	126.0	127.0					2																	9540191		2199	4298	6497	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9540191G>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2724G>T	2.37:g.9540191G>T						ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P863P	p.P908P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			25	3064	+			908			Pro-rich.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.2724G>T	CCDS1661.1																																																																																				0.517	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		3	48	1	0	1	1	1	3	48				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	18	0	0	0	1	0	3	18				
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					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.?(6)|p.Q400*(2)	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)		CTGCCTGGCTCAGAATTCACC	0.308			"""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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(2)	p.0?(8)|p.?(6)|p.Q400*(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|cervix(2)|lung(1)	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						c.(1198-1200)Cag>Tag		neurofibromin 1							78.0	86.0	83.0					17																	29528441		2203	4295	6498	SO:0001587	stop_gained	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.chr17:29528441C>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.1198C>T	17.37:g.29528441C>T	ENSP00000351015:p.Gln400*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	p.Q400*	NM_001042492.2	NP_001035957.1	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)	11	1581	+		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)	400					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1198C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647345	0.87958	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	5.17	0.71159	.	0.119548	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	.	.	.	X	400;400;400;66	.	ENSP00000348498:Q400X	Q	+	1	0	NF1	26552567	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.284000	0.58983	2.412000	0.81896	0.491000	0.48974	CAG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		37	11	0	0	0	1	0	37	11				
DGKH	160851	broad.mit.edu	37	13	42780271	42780271	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr13:42780271A>G	ENST00000337343.4	+	21	2611	c.2590A>G	c.(2590-2592)Aaa>Gaa	p.K864E	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.K728E|DGKH_ENST00000540693.1_Missense_Mutation_p.K864E|DGKH_ENST00000261491.5_Missense_Mutation_p.K864E|DGKH_ENST00000538674.1_Missense_Mutation_p.K619E|DGKH_ENST00000379274.2_Missense_Mutation_p.K728E	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	864					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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGGTGGAACTAAAGAGGATGA	0.398																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2182-2184)Aaa>Gaa		diacylglycerol kinase, eta							108.0	101.0	103.0					13																	42780271		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42780271A>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2590A>G	13.37:g.42780271A>G	ENSP00000337572:p.Lys864Glu					DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.K864E|DGKH_ENST00000540693.1_Missense_Mutation_p.K864E|DGKH_ENST00000538674.1_Missense_Mutation_p.K619E|DGKH_ENST00000337343.4_Missense_Mutation_p.K864E|DGKH_ENST00000536612.1_Missense_Mutation_p.K728E	p.K728E			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	21	2611	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	864					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.2182A>G	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681011	0.88542	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.43	5.43	0.79202	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.68593	2.085	0.80722	D	1	P;D;P;D	0.59357	0.918;0.985;0.911;0.967	P;P;P;P	0.62014	0.835;0.891;0.821;0.897	T	0.55095	-0.8194	10	0.72032	D	0.01	.	15.7645	0.78114	1.0:0.0:0.0:0.0	.	619;728;864;864	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	E	864;864;864;728;728;619	ENSP00000440823:K864E;ENSP00000337572:K864E;ENSP00000261491:K864E;ENSP00000368576:K728E;ENSP00000445114:K728E;ENSP00000441308:K619E	ENSP00000261491:K864E	K	+	1	0	DGKH	41678271	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.196000	0.70406	0.482000	0.46254	AAA		0.398	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		25	22	0	0	0	1	0	25	22				
CHRNA6	8973	broad.mit.edu	37	8	42608436	42608436	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr8:42608436T>A	ENST00000276410.2	-	6	1726	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	CHRNA6_ENST00000534622.1_Missense_Mutation_p.K442N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	457					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TGGCCACGTATTTCCAGTCAT	0.378																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(1369-1371)aaA>aaT		cholinergic receptor, nicotinic, alpha 6 (neuronal)							166.0	179.0	175.0					8																	42608436		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42608436T>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1371A>T	8.37:g.42608436T>A	ENSP00000276410:p.Lys457Asn					CHRNA6_ENST00000534622.1_Missense_Mutation_p.K442N	p.K457N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		6	1726	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	457					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.1371A>T	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	t	19.42	3.824801	0.71143	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.72942	-0.7;-0.7	6.02	-0.44	0.12261	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.045358	0.85682	D	0.000000	D	0.83294	0.5223	M	0.86420	2.815	0.50632	D	0.999882	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83973	0.0328	10	0.87932	D	0	.	12.1194	0.53883	0.0:0.4603:0.0:0.5397	.	442;457	B4DQH1;Q15825	.;ACHA6_HUMAN	N	457;442	ENSP00000276410:K457N;ENSP00000433871:K442N	ENSP00000276410:K457N	K	-	3	2	CHRNA6	42727593	0.107000	0.21998	0.987000	0.45799	0.957000	0.61999	-0.568000	0.05909	-0.067000	0.12976	-0.417000	0.06048	AAA		0.378	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			4	219	0	0	0	1	0	4	219				
GPR83	10888	broad.mit.edu	37	11	94113423	94113423	+	Silent	SNP	C	C	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr11:94113423C>T	ENST00000243673.2	-	4	1335	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	GPR83_ENST00000539203.2_Silent_p.K346K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	388					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCCATCATTCTTCTCTGTCC	0.562																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(1162-1164)aaG>aaA		G protein-coupled receptor 83							83.0	81.0	82.0					11																	94113423		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113423C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1164G>A	11.37:g.94113423C>T						GPR83_ENST00000539203.2_Silent_p.K346K	p.K388K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1335	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	388					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.1164G>A	CCDS8297.1																																																																																				0.562	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		15	48	0	0	0	1	0	15	48				
ZNF683	257101	broad.mit.edu	37	1	26688343	26688343	+	Silent	SNP	G	G	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr1:26688343G>T	ENST00000436292.1	-	7	1494	c.1374C>A	c.(1372-1374)acC>acA	p.T458T	ZNF683_ENST00000403843.1_Silent_p.T458T|ZNF683_ENST00000349618.3_Silent_p.T438T|ZNF683_ENST00000374204.1_Silent_p.T438T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	458					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGCAGCTGGGTGTGCACCA	0.617																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1372-1374)acC>acA		zinc finger protein 683							63.0	64.0	63.0					1																	26688343		2203	4300	6503	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688343G>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1374C>A	1.37:g.26688343G>T						ZNF683_ENST00000349618.3_Silent_p.T438T|ZNF683_ENST00000403843.1_Silent_p.T458T|ZNF683_ENST00000374204.1_Silent_p.T438T	p.T458T			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1494	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	458					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.1374C>A																																																																																					0.617	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		39	47	1	0	3.33393e-15	1	3.73401e-15	39	47				
MAP4K3	8491	broad.mit.edu	37	2	39499635	39499635	+	Silent	SNP	G	G	A			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr2:39499635G>A	ENST00000263881.3	-	25	2167	c.1843C>T	c.(1843-1845)Cta>Tta	p.L615L	MAP4K3_ENST00000437545.1_Silent_p.L531L|MAP4K3_ENST00000341681.5_Silent_p.L594L|MAP4K3_ENST00000536018.1_Silent_p.L168L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	615	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GATATTGATAGCAAGCAATTG	0.279																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1843-1845)Cta>Tta		mitogen-activated protein kinase kinase kinase kinase 3							72.0	76.0	75.0					2																	39499635		2203	4297	6500	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499635G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1843C>T	2.37:g.39499635G>A						MAP4K3_ENST00000341681.5_Silent_p.L594L|MAP4K3_ENST00000437545.1_Silent_p.L531L|MAP4K3_ENST00000536018.1_Silent_p.L168L	p.L615L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			25	2167	-		all_hematologic(82;0.211)	615			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.1843C>T	CCDS1803.1																																																																																				0.279	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		44	80	0	0	0	1	0	44	80				
HRNR	388697	broad.mit.edu	37	1	152187678	152187678	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr1:152187678A>G	ENST00000368801.2	-	3	6502	c.6427T>C	c.(6427-6429)Tca>Cca	p.S2143P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2143					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAGATGACTGTCCTGAT	0.587																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6427-6429)Tca>Cca		hornerin							171.0	199.0	189.0					1																	152187678		2195	4276	6471	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187678A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6427T>C	1.37:g.152187678A>G	ENSP00000357791:p.Ser2143Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2143P	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6502	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2143					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6427T>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.384	0.629362	0.14257	.	.	ENSG00000197915	ENST00000368801	T	0.02177	4.41	3.77	1.18	0.20946	.	.	.	.	.	T	0.01353	0.0044	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.53187	-0.8474	9	0.26408	T	0.33	.	7.4816	0.27408	0.6638:0.0:0.0:0.3362	.	2143	Q86YZ3	HORN_HUMAN	P	2143	ENSP00000357791:S2143P	ENSP00000357791:S2143P	S	-	1	0	HRNR	150454302	0.001000	0.12720	0.037000	0.18230	0.001000	0.01503	0.480000	0.22244	0.103000	0.17682	0.491000	0.48974	TCA		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		47	1241	0	0	0	1	0	47	1241				
USO1	8615	broad.mit.edu	37	4	76721883	76721883	+	Missense_Mutation	SNP	C	C	G	rs528522902		TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr4:76721883C>G	ENST00000538159.1	+	17	1822	c.1822C>G	c.(1822-1824)Cca>Gca	p.P608A	USO1_ENST00000514213.2_Missense_Mutation_p.P584A			O60763	USO1_HUMAN	USO1 vesicle transport factor	599	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCCCAGCCAAACTTTCC	0.353													C|||	0	0.0	0.0	0.0	5008	,	,		16658	0.0		0.0	False		,,,				2504	0.0					ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1822-1824)Cca>Gca		USO1 vesicle transport factor							84.0	80.0	81.0					4																	76721883		1824	4085	5909	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76721883C>G	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1822C>G	4.37:g.76721883C>G	ENSP00000440586:p.Pro608Ala					USO1_ENST00000514213.2_Missense_Mutation_p.P584A	p.P608A			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	1822	+			599			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.1822C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150145|4.150145	0.78001|0.78001	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67097|0.67097	0.2857|0.2857	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	D;P|.	0.54772|.	0.968;0.919|.	P;P|.	0.53760|.	0.734;0.586|.	T|T	0.62511|0.62511	-0.6839|-0.6839	9|5	0.19590|.	T|.	0.45|.	.|.	19.1752|19.1752	0.93601|0.93601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	608;599|.	F5GYR8;O60763|.	.;USO1_HUMAN|.	A|R	434;608;584;527|274	.|.	ENSP00000264904:P527A|.	P|S	+|+	1|3	0|2	USO1|USO1	76940907|76940907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.587000|7.587000	0.82613|0.82613	2.614000|2.614000	0.88457|0.88457	0.455000|0.455000	0.32223|0.32223	CCA|AGC		0.353	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		3	39	0	0	0	1	0	3	39				
GUSBP1	728411	broad.mit.edu	37	5	21491513	21491513	+	RNA	SNP	G	G	A			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr5:21491513G>A	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										AAACAAAGTCGTGGACAACCA	0.547																																						ENST00000607545.1																			0																																																			728411							g.chr5:21491513G>A	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491513G>A								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.547	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		5	38	0	0	0	1	0	5	38				
FAM155B	27112	broad.mit.edu	37	X	68749682	68749682	+	Silent	SNP	C	C	T			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chrX:68749682C>T	ENST00000252338.4	+	3	1344	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	435						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCGGCTCTGCGTCCTTGTTC	0.657																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(1300-1302)tgC>tgT		family with sequence similarity 155, member B							107.0	81.0	90.0					X																	68749682		2203	4300	6503	SO:0001819	synonymous_variant	27112					integral to membrane		g.chrX:68749682C>T	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1302C>T	X.37:g.68749682C>T							p.C434C	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			3	1344	+			435					B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	37	c.1302C>T	CCDS35317.1																																																																																				0.657	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		3	48	0	0	0	1	0	3	48				
UGT2B17	7367	broad.mit.edu	37	4	69403499	69403499	+	Silent	SNP	G	G	C			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr4:69403499G>C	ENST00000317746.2	-	6	1479	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	479					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TGTGGGCTGCGACCCGAAGGT	0.483																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1435-1437)gtC>gtG		UDP glucuronosyltransferase 2 family, polypeptide B17							118.0	106.0	110.0					4																	69403499		2092	3941	6033	SO:0001819	synonymous_variant	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403499G>C	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1437C>G	4.37:g.69403499G>C							p.V479V	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			6	1479	-			479						Silent	SNP	ENST00000317746.2	37	c.1437C>G	CCDS3523.1																																																																																				0.483	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		97	9	0	0	0	1	0	97	9				
ATF7IP	55729	broad.mit.edu	37	12	14599931	14599931	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr12:14599931G>C	ENST00000540793.1	+	5	2094	c.1939G>C	c.(1939-1941)Gcc>Ccc	p.A647P	ATF7IP_ENST00000543189.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000544627.1_Missense_Mutation_p.A655P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A647P|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	647	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCCAAGATAGCCAGGTTAAC	0.269																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1963-1965)Gcc>Ccc		activating transcription factor 7 interacting protein							45.0	52.0	50.0					12																	14599931		2203	4296	6499	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14599931G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1939G>C	12.37:g.14599931G>C	ENSP00000444589:p.Ala647Pro					ATF7IP_ENST00000543189.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A647P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.A647P	p.A655P			Q6VMQ6	MCAF1_HUMAN			6	2283	+			647			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1963G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239066	0.79800	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.24723	1.96;1.84;1.96;1.96;1.96	5.83	5.83	0.93111	.	0.087940	0.49916	D	0.000140	T	0.47322	0.1439	L	0.59436	1.845	0.42929	D	0.994317	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.79784	0.929;0.993;0.953;0.953;0.993;0.993	T	0.40327	-0.9569	10	0.72032	D	0.01	-12.1896	14.3101	0.66410	0.0728:0.0:0.9271:0.0	.	655;646;646;647;646;258	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	P	647;86;646;646;655;647	ENSP00000261168:A647P;ENSP00000443179:A646P;ENSP00000445955:A646P;ENSP00000440440:A655P;ENSP00000444589:A647P	ENSP00000261168:A647P	A	+	1	0	ATF7IP	14491198	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.749000	0.62155	2.757000	0.94681	0.563000	0.77884	GCC		0.269	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		6	64	0	0	0	1	0	6	64				
TRMT6	51605	broad.mit.edu	37	20	5924293	5924293	+	Silent	SNP	C	C	A	rs138159047		TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr20:5924293C>A	ENST00000203001.2	-	6	709	c.579G>T	c.(577-579)acG>acT	p.T193T	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.T23T	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	193					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TATTTCCCAACGTCAACATCT	0.378																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(577-579)acG>acT		tRNA methyltransferase 6 homolog (S. cerevisiae)							173.0	159.0	164.0					20																	5924293		2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5924293C>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.579G>T	20.37:g.5924293C>A						TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.T23T	p.T193T	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			6	709	-			193					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.579G>T	CCDS13093.1																																																																																				0.378	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			4	177	1	0	0.014758	1	0.0153046	4	177				
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G	rs556090358	byFrequency	TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr11:1266085C>G	ENST00000529681.1	+	31	8033	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A	MUC5B_ENST00000447027.1_Missense_Mutation_p.P2662A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|P -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617													C|||	60	0.0119808	0.0174	0.0072	5008	,	,		19640	0.0		0.0209	False		,,,				2504	0.0112					ENST00000447027.1																			1	Substitution - Missense(1)	p.P2638A(1)	skin(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7984-7986)Ccc>Gcc		mucin 5B, oligomeric mucus/gel-forming							98.0	124.0	116.0					11																	1266085		2044	4160	6204	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266085C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7975C>G	11.37:g.1266085C>G	ENSP00000436812:p.Pro2659Ala					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A	p.P2662A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8042	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2659	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7984C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355741	0.01245	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21361	2.01;2.2	2.53	-5.06	0.02946	.	.	.	.	.	T	0.12987	0.0315	L	0.41710	1.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	9	0.87932	D	0	.	1.5835	0.02639	0.3418:0.1308:0.3464:0.181	.	3297;2662	A7Y9J9;E9PBJ0	.;.	A	2659;2662;2631;2674	ENSP00000436812:P2659A;ENSP00000415793:P2662A	ENSP00000343037:P2631A	P	+	1	0	MUC5B	1222661	0.591000	0.26824	0.000000	0.03702	0.025000	0.11179	0.025000	0.13577	-4.187000	0.00066	-0.982000	0.02568	CCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	41	0	0	0	1	0	3	41				
MCHR2	84539	broad.mit.edu	37	6	100369004	100369004	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr6:100369004G>C	ENST00000281806.2	-	6	1149	c.835C>G	c.(835-837)Cag>Gag	p.Q279E	MCHR2_ENST00000369212.2_Missense_Mutation_p.Q279E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTGTGGGCTGTTCCATCTGT	0.473																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(835-837)Cag>Gag		melanin-concentrating hormone receptor 2							207.0	181.0	190.0					6																	100369004		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100369004G>C	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.835C>G	6.37:g.100369004G>C	ENSP00000281806:p.Gln279Glu					MCHR2_ENST00000445970.1_Missense_Mutation_p.Q279E|MCHR2_ENST00000369212.1_Missense_Mutation_p.Q279E	p.Q279E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1149	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	279					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.835C>G	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179240	0.38511	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.71341	-0.56;-0.56;-0.56	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.369608	0.24307	N	0.039674	T	0.40196	0.1107	L	0.40543	1.245	0.28984	N	0.88845	B	0.21821	0.061	B	0.23150	0.044	T	0.25117	-1.0141	10	0.02654	T	1	.	16.2984	0.82786	0.0:0.0:1.0:0.0	.	279	Q969V1	MCHR2_HUMAN	E	279	ENSP00000403490:Q279E;ENSP00000281806:Q279E;ENSP00000358214:Q279E	ENSP00000281806:Q279E	Q	-	1	0	MCHR2	100475725	0.204000	0.23447	1.000000	0.80357	0.986000	0.74619	1.835000	0.39181	2.433000	0.82419	0.655000	0.94253	CAG		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		8	97	0	0	0	1	0	8	97				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	71	0	0	0	1	0	4	71				
TRDN	10345	broad.mit.edu	37	6	123868486	123868486	+	Splice_Site	DEL	T	T	-			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr6:123868486delT	ENST00000398178.3	-	4	444	c.423delA	c.(421-423)aaa>aa	p.K141fs	TRDN_ENST00000542443.1_Splice_Site_p.K141fs|TRDN_ENST00000546248.1_Splice_Site_p.K141fs|TRDN_ENST00000334268.4_Splice_Site_p.K141fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	141					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACAACTAACCTTTTTTTCTCA	0.249																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e4+1		triadin				4,3276		0,4,1636	13.0	12.0	12.0			5.7	1.0	6		12	16,7298		0,16,3641	no	frameshift-near-splice	TRDN	NM_006073.2		0,20,5277	A1A1,A1R,RR		0.2188,0.122,0.1888			123868486	20,10574	1702	3839	5541	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123868486delT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.424+1A>-	6.37:g.123868486delT						TRDN_ENST00000398178.3_Splice_Site_p.K141_splice|TRDN_ENST00000542443.1_Splice_Site_p.K141_splice|TRDN_ENST00000546248.1_Splice_Site_p.K141_splice	p.K141_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	4	740	-			141					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	DEL	ENST00000398178.3	37	c.424_splice	CCDS55053.1																																																																																				0.249	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Frame_Shift_Del	2	4						2	4	---	---	---	---
SNRPD2	6633	broad.mit.edu	37	19	46191718	46191721	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr19:46191718_46191721delTGAC	ENST00000342669.3	-	2	550_553	c.106_109delGTCA	c.(106-111)gtcaagfs	p.VK36fs	SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	36					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GTATTGTTCTTGACTGACTGTGTG	0.544																																						ENST00000342669.3																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(106-111)agfs		small nuclear ribonucleoprotein D2 polypeptide 16.5kDa																																				SO:0001589	frameshift_variant	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46191718_46191721delTGAC		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.106_109delGTCA	19.37:g.46191722_46191725delTGAC	ENSP00000342374:p.Val36fs					SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs	p.VK36fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	2	550_553	-		Ovarian(192;0.051)|all_neural(266;0.112)	36					A8K797|J3KPM5|P43330	Frame_Shift_Del	DEL	ENST00000342669.3	37	c.106_109delGTCA	CCDS33053.1																																																																																				0.544	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		25	55						25	55	---	---	---	---
