#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(496-498)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							92.0	78.0	82.0					19																	3114962		2203	4299	6502	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3114962G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.497G>A	19.37:g.3114962G>A	ENSP00000078429:p.Arg166His		Somatic					p.R166H	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	739	+		Hepatocellular(1079;0.137)	166					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.497G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757625	0.69648	.	.	ENSG00000088256	ENST00000078429	D	0.91996	-2.95	3.62	3.62	0.41486	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	U	0.000002	D	0.97201	0.9085	H	0.96662	3.86	0.54753	D	0.999989	D	0.89917	1.0	D	0.73708	0.981	D	0.98413	1.0573	10	0.87932	D	0	.	14.2446	0.65981	0.0:0.0:1.0:0.0	.	166	P29992	GNA11_HUMAN	H	166	ENSP00000078429:R166H	ENSP00000078429:R166H	R	+	2	0	GNA11	3065962	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.626000	0.98410	1.752000	0.51891	0.556000	0.70494	CGC		0.677	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		3	57	0	0	0	1	0	3	57				
SAP30BP	29115	broad.mit.edu	37	17	73695881	73695881	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr17:73695881T>C	ENST00000584667.1	+	5	583	c.326T>C	c.(325-327)gTt>gCt	p.V109A	SAP30BP_ENST00000355423.3_Missense_Mutation_p.V93A|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGAAAGAGTTCGGAACATG	0.453																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(325-327)gTt>gCt		SAP30 binding protein							123.0	135.0	131.0					17																	73695881		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695881T>C	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.326T>C	17.37:g.73695881T>C	ENSP00000462116:p.Val109Ala		Somatic				SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.V93A	p.V109A	NM_013260.6	NP_037392.1	WXS	Illumina GAIIx	Phase_I	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	583	+	all_cancers(13;6.42e-08)		109						Missense_Mutation	SNP	ENST00000584667.1	37	c.326T>C	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898561	0.72639	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.59436	1.845	0.80722	D	1	P;B	0.36837	0.571;0.435	B;B	0.39027	0.288;0.104	T	0.52056	-0.8626	9	0.08179	T	0.78	0.2873	15.7741	0.78198	0.0:0.0:0.0:1.0	.	93;109	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	A	109;109;93	.	ENSP00000293208:V93A	V	+	2	0	SAP30BP	71207476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.111000	0.64477	0.533000	0.62120	GTT		0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		9	140	0	0	0	1	0	9	140				
SELE	6401	broad.mit.edu	37	1	169698468	169698468	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr1:169698468A>T	ENST00000333360.7	-	7	1088	c.949T>A	c.(949-951)Tgc>Agc	p.C317S	SELE_ENST00000367779.4_Missense_Mutation_p.C317S|SELE_ENST00000367774.1_Missense_Mutation_p.C317S|SELE_ENST00000367780.4_Missense_Mutation_p.C255S|SELE_ENST00000367777.1_Missense_Mutation_p.C317S|SELE_ENST00000367782.4_Missense_Mutation_p.C317S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C317S|SELE_ENST00000367781.4_Missense_Mutation_p.C317S|SELE_ENST00000367775.1_Missense_Mutation_p.C255S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	317	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GAATGGCTGCACCTCACAGAG	0.522																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(949-951)Tgc>Agc		selectin E							61.0	54.0	57.0					1																	169698468		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698468A>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.949T>A	1.37:g.169698468A>T	ENSP00000331736:p.Cys317Ser		Somatic				SELE_ENST00000367779.4_Missense_Mutation_p.C317S|SELE_ENST00000367780.4_Missense_Mutation_p.C255S|SELE_ENST00000367781.4_Missense_Mutation_p.C317S|SELE_ENST00000367782.4_Missense_Mutation_p.C317S|SELE_ENST00000367775.1_Missense_Mutation_p.C255S|SELE_ENST00000367774.1_Missense_Mutation_p.C317S|SELE_ENST00000367776.1_Missense_Mutation_p.C317S|SELE_ENST00000367777.1_Missense_Mutation_p.C317S|C1orf112_ENST00000498289.1_Intron	p.C317S	NM_000450.2	NP_000441.2	WXS	Illumina GAIIx	Phase_I	P16581	LYAM2_HUMAN			7	1088	-	all_hematologic(923;0.208)		317			Sushi 3.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.949T>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960662	0.53400	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.73258	1.89;1.89;1.89;-0.73;1.89;1.89;1.89;1.89;-0.73	5.13	5.13	0.70059	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.45126	D	0.000386	T	0.81569	0.4850	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.85125	0.0971	10	0.72032	D	0.01	-7.1846	12.9225	0.58241	1.0:0.0:0.0:0.0	.	317	P16581	LYAM2_HUMAN	S	317;317;255;317;317;317;255;317;317	ENSP00000356755:C317S;ENSP00000356756:C317S;ENSP00000356754:C255S;ENSP00000356753:C317S;ENSP00000331736:C317S;ENSP00000356751:C317S;ENSP00000356749:C255S;ENSP00000356750:C317S;ENSP00000356748:C317S	ENSP00000331736:C317S	C	-	1	0	SELE	167965092	1.000000	0.71417	0.113000	0.21522	0.089000	0.18198	6.254000	0.72460	1.928000	0.55862	0.528000	0.53228	TGC		0.522	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		9	15	0	0	0	1	0	9	15				
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		12	Substitution - Missense(12)	p.R625L(9)|p.R625P(2)|p.R625H(1)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt		splicing factor 3b, subunit 1, 155kDa							95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His		Somatic					p.R625H	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	SF3B1	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			22	26	0	0	0	1	0	22	26				
RSPH14	27156	broad.mit.edu	37	22	23406237	23406237	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr22:23406237C>T	ENST00000216036.4	-	5	692	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		166	Poly-Glu.									breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCCTGGAACTCCTCCTCCTCC	0.577																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(496-498)Gag>Aag		rhabdoid tumor deletion region gene 1							102.0	90.0	94.0					22																	23406237		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23406237C>T																												ENST00000216036.4:c.496G>A	22.37:g.23406237C>T	ENSP00000216036:p.Glu166Lys		Somatic					p.E166K	NM_014433.2	NP_055248.1	WXS	Illumina GAIIx	Phase_I	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	692	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		166			Poly-Glu.			Missense_Mutation	SNP	ENST00000216036.4	37	c.496G>A	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	4.868	0.161359	0.09287	.	.	ENSG00000100218	ENST00000216036	T	0.51325	0.71	.	.	.	Armadillo-like helical (1);Armadillo-type fold (1);	3.549510	0.00508	N	0.000176	T	0.38852	0.1056	L	0.43923	1.385	0.22562	N	0.998982	P	0.46395	0.877	B	0.43360	0.417	T	0.30909	-0.9962	8	0.07813	T	0.8	0.7507	.	.	.	.	166	Q9UHP6	RTDR1_HUMAN	K	166	ENSP00000216036:E166K	ENSP00000216036:E166K	E	-	1	0	RTDR1	21736237	0.011000	0.17503	0.077000	0.20336	0.028000	0.11728	-0.542000	0.06091	0.064000	0.16427	0.064000	0.15345	GAG		0.577	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			16	24	0	0	0	1	0	16	24				
DYSF	8291	broad.mit.edu	37	2	71797031	71797031	+	Silent	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:71797031G>A	ENST00000258104.3	+	27	3169	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	DYSF_ENST00000409762.1_Silent_p.Q981Q|DYSF_ENST00000413539.2_Silent_p.Q995Q|DYSF_ENST00000429174.2_Silent_p.Q964Q|DYSF_ENST00000409366.1_Silent_p.Q965Q|DYSF_ENST00000394120.2_Silent_p.Q965Q|DYSF_ENST00000409744.1_Silent_p.Q951Q|DYSF_ENST00000410041.1_Silent_p.Q982Q|DYSF_ENST00000409651.1_Silent_p.Q996Q|DYSF_ENST00000410020.3_Silent_p.Q982Q|DYSF_ENST00000409582.3_Silent_p.Q981Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	964					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGAGGCCAGTGGATCTACA	0.587																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2890-2892)caG>caA		dysferlin							55.0	57.0	56.0					2																	71797031		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797031G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2892G>A	2.37:g.71797031G>A			Somatic				DYSF_ENST00000409366.1_Silent_p.Q965Q|DYSF_ENST00000409762.1_Silent_p.Q981Q|DYSF_ENST00000394120.2_Silent_p.Q965Q|DYSF_ENST00000409651.1_Silent_p.Q996Q|DYSF_ENST00000409744.1_Silent_p.Q951Q|DYSF_ENST00000409582.3_Silent_p.Q981Q|DYSF_ENST00000413539.2_Silent_p.Q995Q|DYSF_ENST00000410041.1_Silent_p.Q982Q|DYSF_ENST00000410020.3_Silent_p.Q982Q|DYSF_ENST00000429174.2_Silent_p.Q964Q	p.Q964Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			27	3169	+			964					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.2892G>A	CCDS1918.1																																																																																				0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	65	0	0	0	1	0	5	65				
TRAF3IP1	26146	broad.mit.edu	37	2	239237343	239237343	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:239237343C>T	ENST00000373327.4	+	4	593	c.371C>T	c.(370-372)gCg>gTg	p.A124V	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A124V|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A124V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	124	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGTGACGATGCGGTGCGGAGG	0.468																																						ENST00000373327.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(370-372)gCg>gTg		TNF receptor-associated factor 3 interacting protein 1							81.0	82.0	82.0					2																	239237343		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239237343C>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.371C>T	2.37:g.239237343C>T	ENSP00000362424:p.Ala124Val		Somatic				TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A124V|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A124V	p.A124V	NM_015650.3	NP_056465.2	WXS	Illumina GAIIx	Phase_I	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	4	593	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	124			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.371C>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752655	0.69533	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.19394	2.15;2.15;2.15	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57694	-0.7767	10	0.66056	D	0.02	-36.9431	17.9082	0.88926	0.0:1.0:0.0:0.0	.	124;124	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	V	124	ENSP00000375851:A124V;ENSP00000362424:A124V;ENSP00000375852:A124V	ENSP00000362424:A124V	A	+	2	0	TRAF3IP1	238902082	1.000000	0.71417	0.120000	0.21714	0.092000	0.18411	5.967000	0.70403	2.301000	0.77427	0.655000	0.94253	GCG		0.468	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		3	44	0	0	0	1	0	3	44				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C			Somatic				FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G			WXS	Illumina GAIIx	Phase_I					6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	55	0	0	0	1	0	4	55				
LRFN2	57497	broad.mit.edu	37	6	40400440	40400440	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr6:40400440C>T	ENST00000338305.6	-	2	955	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	138						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTGCGATGCCGCCCAGCTG	0.597																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(412-414)gGc>gAc		leucine rich repeat and fibronectin type III domain containing 2							64.0	59.0	61.0					6																	40400440		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400440C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.413G>A	6.37:g.40400440C>T	ENSP00000345985:p.Gly138Asp		Somatic					p.G138D	NM_020737.1	NP_065788.1	WXS	Illumina GAIIx	Phase_I	Q9ULH4	LRFN2_HUMAN			2	955	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		138					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.413G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062997	0.19987	.	.	ENSG00000156564	ENST00000338305	T	0.02737	4.18	5.76	2.45	0.29901	.	0.365256	0.34603	N	0.003827	T	0.00608	0.0020	N	0.13299	0.325	0.32623	N	0.523012	B	0.02656	0.0	B	0.04013	0.001	T	0.45071	-0.9286	10	0.11485	T	0.65	.	11.0243	0.47736	0.0:0.6776:0.245:0.0773	.	138	Q9ULH4	LRFN2_HUMAN	D	138	ENSP00000345985:G138D	ENSP00000345985:G138D	G	-	2	0	LRFN2	40508418	0.396000	0.25262	0.995000	0.50966	0.832000	0.47134	0.911000	0.28584	0.736000	0.32559	0.655000	0.94253	GGC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		3	64	0	0	0	1	0	3	64				
CEP164	22897	broad.mit.edu	37	11	117222647	117222647	+	Silent	SNP	G	G	A	rs77712809		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr11:117222647G>A	ENST00000278935.3	+	5	483	c.336G>A	c.(334-336)aaG>aaA	p.K112K		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	112	Interaction with ATRIP.|Lys-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TTaagaagaagaaaaaaaaaa	0.507																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(334-336)aaG>aaA		centrosomal protein 164kDa							30.0	31.0	31.0					11																	117222647		2133	4127	6260	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117222647G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.336G>A	11.37:g.117222647G>A			Somatic					p.K112K	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	WXS	Illumina GAIIx	Phase_I	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	5	483	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	112			Interaction with ATRIP.|Lys-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.336G>A	CCDS31683.1																																																																																				0.507	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		3	21	0	0	0	1	0	3	21				
SNHG14	104472715	broad.mit.edu	37	15	25313008	25313008	+	RNA	SNP	G	G	A	rs199687241		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr15:25313008G>A	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNORD116-8_ENST00000384365.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TCATACCGTCGTTCTCATCAG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21474	0.0		0.0	False		,,,				2504	0.0					ENST00000549804.2																			0															G		2,1750		0,2,874	180.0	159.0	165.0			-5.8	0.0	15		165	0,3982		0,0,1991	no	intergenic				0,2,2865	AA,AG,GG		0.0,0.1142,0.0349			25313008	2,5732	876	1991	2867			0							g.chr15:25313008G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25313008G>A			Somatic				SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA				WXS	Illumina GAIIx	Phase_I					0	538	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.507	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			81	78	0	0	0	1	0	81	78				
OCLN	100506658	broad.mit.edu	37	5	68809848	68809848	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:68809848G>A	ENST00000355237.2	+	4	1239	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	OCLN_ENST00000538151.1_Missense_Mutation_p.R17Q|OCLN_ENST00000396442.2_Missense_Mutation_p.R268Q|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	268	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGAAAACTCGAAGAAAGATG	0.398																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(802-804)cGa>cAa		occludin							116.0	110.0	112.0					5																	68809848		2203	4300	6503	SO:0001583	missense	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68809848G>A	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.803G>A	5.37:g.68809848G>A	ENSP00000347379:p.Arg268Gln		Somatic				OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Missense_Mutation_p.R17Q|OCLN_ENST00000396442.2_Missense_Mutation_p.R268Q|OCLN_ENST00000542132.1_Intron	p.R268Q	NM_002538.3	NP_002529.1	WXS	Illumina GAIIx	Phase_I	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1239	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	268			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.803G>A	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110377	0.94292	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000538151	T;T	0.60920	0.15;0.15	5.84	4.97	0.65823	Marvel (1);	0.059384	0.64402	N	0.000001	T	0.77315	0.4112	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81212	-0.1035	10	0.87932	D	0	-23.569	13.9828	0.64315	0.0741:0.0:0.9259:0.0	.	268	Q16625	OCLN_HUMAN	Q	268;268;17	ENSP00000347379:R268Q;ENSP00000379719:R268Q	ENSP00000347379:R268Q	R	+	2	0	OCLN	68845604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.407000	0.97325	1.472000	0.48140	0.591000	0.81541	CGA		0.398	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		20	32	0	0	0	1	0	20	32				
CSMD3	114788	broad.mit.edu	37	8	113585861	113585861	+	Missense_Mutation	SNP	G	G	C	rs143652338		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr8:113585861G>C	ENST00000297405.5	-	24	4155	c.3911C>G	c.(3910-3912)aCt>aGt	p.T1304S	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1200S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1264S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1304S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1304	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TAGTAGATGAGTCGTTTTATC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(3910-3912)aCt>aGt		CUB and Sushi multiple domains 3		G	SER/THR,SER/THR,SER/THR	0,4406		0,0,2203	98.0	97.0	98.0		3599,3911,3791	4.8	1.0	8	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	58,58,58	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign,benign	1200/3539,1304/3708,1264/3668	113585861	1,13005	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113585861G>C	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.3911C>G	8.37:g.113585861G>C	ENSP00000297405:p.Thr1304Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Missense_Mutation_p.T1200S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1264S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1304S	p.T1304S	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			24	4155	-			1304			CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3911C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928516	0.34002	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.85	4.85	0.62838	CUB (5);	0.079522	0.53938	D	0.000058	T	0.06735	0.0172	N	0.00133	-2.03	0.38516	D	0.948603	B;B;B	0.21688	0.059;0.03;0.0	B;B;B	0.23018	0.042;0.043;0.002	T	0.36720	-0.9736	10	0.08837	T	0.75	.	18.1525	0.89678	0.0:0.0:1.0:0.0	.	1200;1304;1264	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1264;1304;644;1200;1304	ENSP00000345799:T1264S;ENSP00000297405:T1304S;ENSP00000341558:T644S;ENSP00000412263:T1200S;ENSP00000343124:T1304S	ENSP00000297405:T1304S	T	-	2	0	CSMD3	113655037	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	9.411000	0.97342	2.496000	0.84212	0.591000	0.81541	ACT		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	123	0	0	0	1	0	20	123				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn		Somatic				TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	WXS	Illumina GAIIx	Phase_I	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		3	37	0	0	0	1	0	3	37				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		38	48	0	0	0	1	0	38	48				
MBNL2	10150	broad.mit.edu	37	13	97986550	97986550	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:97986550C>G	ENST00000376673.3	+	3	976	c.195C>G	c.(193-195)aaC>aaG	p.N65K	MBNL2_ENST00000445661.2_Missense_Mutation_p.N65K|MBNL2_ENST00000343600.4_Missense_Mutation_p.N65K|MBNL2_ENST00000397601.1_Missense_Mutation_p.N65K|MBNL2_ENST00000345429.6_Missense_Mutation_p.N65K			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	65					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CGAGAGAGAACTGCAAGTATC	0.398																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(193-195)aaC>aaG		muscleblind-like splicing regulator 2							77.0	73.0	74.0					13																	97986550		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97986550C>G	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.195C>G	13.37:g.97986550C>G	ENSP00000365861:p.Asn65Lys		Somatic				MBNL2_ENST00000445661.2_Missense_Mutation_p.N65K|MBNL2_ENST00000376673.3_Missense_Mutation_p.N65K|MBNL2_ENST00000343600.4_Missense_Mutation_p.N65K|MBNL2_ENST00000397601.1_Missense_Mutation_p.N65K	p.N65K	NM_144778.3	NP_659002.1	WXS	Illumina GAIIx	Phase_I	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		3	976	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		65					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.195C>G		.	.	.	.	.	.	.	.	.	.	C	13.84	2.357725	0.41801	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673;ENST00000445661	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.88	5.03	0.67393	Zinc finger, CCCH-type (2);	0.089398	0.85682	D	0.000000	T	0.49372	0.1553	L	0.28649	0.875	0.41617	D	0.988941	D;B;B;P	0.61080	0.989;0.032;0.007;0.865	D;B;B;P	0.68483	0.958;0.057;0.035;0.799	T	0.39722	-0.9600	10	0.41790	T	0.15	.	12.711	0.57089	0.0:0.8707:0.0:0.1293	.	65;65;65;65	B4E3F7;Q5VZF2;A2A3S3;Q5VZF2-2	.;MBNL2_HUMAN;.;.	K	65	ENSP00000380726:N65K;ENSP00000344214:N65K;ENSP00000267287:N65K;ENSP00000365861:N65K;ENSP00000406842:N65K	ENSP00000344214:N65K	N	+	3	2	MBNL2	96784551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.191000	0.42640	2.805000	0.96524	0.551000	0.68910	AAC		0.398	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		3	48	0	0	0	1	0	3	48				
MGAT4B	11282	broad.mit.edu	37	5	179226505	179226505	+	Splice_Site	SNP	C	C	T	rs112845536		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:179226505C>T	ENST00000292591.7	-	9	1392		c.e9+1		MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000521305.1_5'Flank|MGAT4B_ENST00000337755.5_Splice_Site	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTGCTCACCGCATCCTTC	0.577																																					GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.e8+1		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							66.0	66.0	66.0					5																	179226505		2203	4300	6503	SO:0001630	splice_region_variant	11282				N-glycan processing|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.chr5:179226505C>T	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1041+1G>A	5.37:g.179226505C>T			Somatic				MGAT4B_ENST00000292591.7_Splice_Site		NM_054013.3	NP_463459.1	WXS	Illumina GAIIx	Phase_I	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1973	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)						A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Splice_Site	SNP	ENST00000292591.7	37		CCDS4448.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.817544	0.50633	.	.	ENSG00000161013	ENST00000518778;ENST00000337755;ENST00000292591;ENST00000520969;ENST00000520875;ENST00000518867	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0447	0.80711	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MGAT4B	179159111	1.000000	0.71417	0.986000	0.45419	0.573000	0.36030	7.590000	0.82653	1.993000	0.58246	0.561000	0.74099	.		0.577	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275	Intron	15	22	0	0	0	1	0	15	22				
ARHGEF17	9828	broad.mit.edu	37	11	73073583	73073583	+	Silent	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr11:73073583G>A	ENST00000263674.3	+	14	5150	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1600					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGACGCTCGCGGAGCCGGGGC	0.731																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4798-4800)gcG>gcA		Rho guanine nucleotide exchange factor (GEF) 17							10.0	16.0	14.0					11																	73073583		2161	4247	6408	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity	g.chr11:73073583G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4800G>A	11.37:g.73073583G>A			Somatic					p.A1600A	NM_014786.3	NP_055601.2	WXS	Illumina GAIIx	Phase_I	Q96PE2	ARHGH_HUMAN			14	5150	+			1600					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4800G>A	CCDS8221.1																																																																																				0.731	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		8	18	0	0	0	1	0	8	18				
LPHN3	23284	broad.mit.edu	37	4	62599230	62599230	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr4:62599230G>A	ENST00000514591.1	+	7	1482	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LPHN3_ENST00000509896.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506746.1_Missense_Mutation_p.V453M|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385M|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385M|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385M|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453M|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385M|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453M|LPHN3_ENST00000512091.2_Missense_Mutation_p.V385M|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	385	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTATCACGTCGTGAAATATTC	0.393																																						ENST00000512091.2																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1153-1155)Gtg>Atg		latrophilin 3							52.0	47.0	48.0					4																	62599230		1838	4095	5933	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599230G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1153G>A	4.37:g.62599230G>A	ENSP00000422533:p.Val385Met		Somatic				LPHN3_ENST00000514591.1_Missense_Mutation_p.V385M|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385M|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385M|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385M|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453M|LPHN3_ENST00000509896.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506746.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453M|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453M|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385M|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385M	p.V385M			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			7	1900	+						Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1153G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904395	0.52333	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	L	0.55834	1.745	0.48040	D	0.999579	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.991	D	0.93887	0.7176	10	0.72032	D	0.01	.	13.6671	0.62403	0.0:0.1549:0.8451:0.0	.	385;453;385	E9PE04;E7EN28;Q9HAR2-2	.;.;.	M	385;385;453;453;385;385;385;385;385;453;453;453;385;385;385;453;453;385	ENSP00000423388:V385M;ENSP00000422533:V385M;ENSP00000423787:V453M;ENSP00000425033:V453M;ENSP00000424120:V385M;ENSP00000439831:V385M;ENSP00000421476:V453M;ENSP00000424030:V453M;ENSP00000421372:V453M;ENSP00000425201:V385M;ENSP00000423434:V385M;ENSP00000421627:V385M;ENSP00000420931:V453M;ENSP00000425884:V453M;ENSP00000424258:V385M	ENSP00000280009:V385M	V	+	1	0	LPHN3	62281825	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.513000	0.81739	2.471000	0.83476	0.557000	0.71058	GTG		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			9	22	0	0	0	1	0	9	22				
ABCA12	26154	broad.mit.edu	37	2	215865502	215865502	+	Missense_Mutation	SNP	G	G	C			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:215865502G>C	ENST00000272895.7	-	22	3325	c.3106C>G	c.(3106-3108)Caa>Gaa	p.Q1036E	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1036					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCAGTTTGCAATTCAATG	0.428																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3106-3108)Caa>Gaa		ATP-binding cassette, sub-family A (ABC1), member 12							124.0	130.0	128.0					2																	215865502		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215865502G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3106C>G	2.37:g.215865502G>C	ENSP00000272895:p.Gln1036Glu		Somatic				ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718E	p.Q1036E	NM_173076.2	NP_775099.2	WXS	Illumina GAIIx	Phase_I	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	22	3325	-		Renal(323;0.127)	1036					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3106C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972598	0.53614	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95518	-3.73;-3.73	5.73	4.85	0.62838	.	0.087482	0.49916	D	0.000121	D	0.95762	0.8621	M	0.85197	2.74	0.80722	D	1	P;B	0.40431	0.717;0.237	B;B	0.40534	0.332;0.272	D	0.95485	0.8564	10	0.59425	D	0.04	.	16.2693	0.82607	0.0:0.0:0.8666:0.1333	.	1036;718	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	E	1036;718	ENSP00000272895:Q1036E;ENSP00000374312:Q718E	ENSP00000272895:Q1036E	Q	-	1	0	ABCA12	215573747	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.530000	0.73816	1.393000	0.46605	0.555000	0.69702	CAA		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		53	66	0	0	0	1	0	53	66				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	42	0	0	0	1	0	3	42				
CSNK1A1L	122011	broad.mit.edu	37	13	37678549	37678549	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:37678549C>T	ENST00000379800.3	-	1	1254	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAAAAGAATGCGGAATAGCTG	0.488																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(844-846)cGc>cAc		casein kinase 1, alpha 1-like							167.0	153.0	158.0					13																	37678549		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678549C>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.845G>A	13.37:g.37678549C>T	ENSP00000369126:p.Arg282His		Somatic					p.R282H	NM_145203.5	NP_660204.2	WXS	Illumina GAIIx	Phase_I	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1254	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	282			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.845G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769340	0.49680	.	.	ENSG00000180138	ENST00000379800	T	0.10288	2.89	1.74	1.74	0.24563	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	M	0.87682	2.9	0.50813	D	0.999897	P	0.35468	0.503	B	0.24974	0.057	T	0.08006	-1.0743	10	0.62326	D	0.03	.	9.4321	0.38617	0.0:1.0:0.0:0.0	.	282	Q8N752	KC1AL_HUMAN	H	282	ENSP00000369126:R282H	ENSP00000369126:R282H	R	-	2	0	CSNK1A1L	36576549	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.054000	0.41335	0.871000	0.35750	0.561000	0.74099	CGC		0.488	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		6	89	0	0	0	1	0	6	89				
WDR7	23335	broad.mit.edu	37	18	54603067	54603067	+	Silent	SNP	T	T	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr18:54603067T>A	ENST00000254442.3	+	23	3973	c.3762T>A	c.(3760-3762)tcT>tcA	p.S1254S	WDR7_ENST00000357574.3_Silent_p.S1221S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1254					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGGCCCGCTCTGCGAGGCATG	0.527																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3760-3762)tcT>tcA		WD repeat domain 7							84.0	87.0	86.0					18																	54603067		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54603067T>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3762T>A	18.37:g.54603067T>A			Somatic				WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1221S	p.S1254S	NM_015285.2	NP_056100.2	WXS	Illumina GAIIx	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	23	3973	+			1254					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3762T>A	CCDS11962.1																																																																																				0.527	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			45	40	0	0	0	1	0	45	40				
CACNA1D	776	broad.mit.edu	37	3	53796064	53796064	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr3:53796064A>T	ENST00000350061.5	+	30	4337	c.3826A>T	c.(3826-3828)Atc>Ttc	p.I1276F	CACNA1D_ENST00000540742.1_Missense_Mutation_p.I183F|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1296F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1276F	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1276					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGACTCCCTCATCGTAATCGG	0.552																																						ENST00000288139.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3886-3888)Atc>Ttc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						174.0	138.0	150.0					3																	53796064		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53796064A>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3826A>T	3.37:g.53796064A>T	ENSP00000288133:p.Ile1276Phe		Somatic				CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1276F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1276F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I183F	p.I1296F	NM_000720.2	NP_000711.1	WXS	Illumina GAIIx	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	31	4004	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3886A>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407489	0.83230	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000540742	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.94771	3.58	0.80722	D	1	D;P;D;D	0.64830	0.994;0.818;0.99;0.974	D;P;D;D	0.69654	0.965;0.776;0.936;0.913	D	0.99253	1.0888	10	0.87932	D	0	.	11.1717	0.48575	0.9283:0.0:0.0717:0.0	.	1276;183;1276;1296	B0FYA3;F5H313;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	F	1276;1296;1276;183	ENSP00000288133:I1276F;ENSP00000288139:I1296F;ENSP00000409174:I1276F;ENSP00000438229:I183F	ENSP00000288139:I1296F	I	+	1	0	CACNA1D	53771104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.859000	0.69539	2.254000	0.74563	0.459000	0.35465	ATC		0.552	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		37	90	0	0	0	1	0	37	90				
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr16:70065826T>C	ENST00000531894.1	-	0	796				MIR1972-2_ENST00000458813.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453																																						ENST00000531894.1																			4	Substitution - Missense(4)	p.M209V(4)	urinary_tract(1)|prostate(1)|kidney(1)|endometrium(1)																																																0							g.chr16:70065826T>C			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70065826T>C			Somatic						NR_003610.1		WXS	Illumina GAIIx	Phase_I					0	796	-								A8K9Z5	RNA	SNP	ENST00000531894.1	37																																																																																						0.453	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			3	49	0	0	0	1	0	3	49				
GAB3	139716	broad.mit.edu	37	X	153908520	153908520	+	Silent	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chrX:153908520C>T	ENST00000369575.3	-	9	1564	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	GAB3_ENST00000424127.2_Silent_p.E512E|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	511					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGTTCGGTGCTCCTCCTAGG	0.517																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1531-1533)gaG>gaA		GRB2-associated binding protein 3							123.0	113.0	116.0					X																	153908520		2203	4300	6503	SO:0001819	synonymous_variant	139716							g.chrX:153908520C>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1533G>A	X.37:g.153908520C>T			Somatic				GAB3_ENST00000424127.2_Silent_p.E512E|GAB3_ENST00000496390.1_5'UTR	p.E511E	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	WXS	Illumina GAIIx	Phase_I	Q8WWW8	GAB3_HUMAN			9	1564	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		511					A6NHF8|E9PB44	Silent	SNP	ENST00000369575.3	37	c.1533G>A	CCDS14760.1																																																																																				0.517	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		60	4	0	0	0	1	0	60	4				
OR6C75	390323	broad.mit.edu	37	12	55759765	55759765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:55759765A>T	ENST00000343399.3	+	1	871	c.871A>T	c.(871-873)Aga>Tga	p.R291*		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATACACACTGAGAAATAAGCA	0.393																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(871-873)Aga>Tga		olfactory receptor, family 6, subfamily C, member 75							69.0	64.0	66.0					12																	55759765		2203	4300	6503	SO:0001587	stop_gained	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759765A>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.871A>T	12.37:g.55759765A>T	ENSP00000368987:p.Arg291*		Somatic					p.R291*	NM_001005497.1	NP_001005497.1	WXS	Illumina GAIIx	Phase_I	A6NL08	O6C75_HUMAN			1	871	+			291						Nonsense_Mutation	SNP	ENST00000343399.3	37	c.871A>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	a	13.23	2.174605	0.38413	.	.	ENSG00000187857	ENST00000343399	.	.	.	5.22	1.32	0.21799	.	0.000000	0.47455	U	0.000236	.	.	.	.	.	.	0.48571	D	0.999672	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7292	0.62776	0.4857:0.5143:0.0:0.0	.	.	.	.	X	291	.	ENSP00000368987:R291X	R	+	1	2	OR6C75	54046032	0.996000	0.38824	0.059000	0.19551	0.298000	0.27526	2.792000	0.47837	0.069000	0.16605	0.515000	0.50301	AGA		0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			3	65	0	0	0	1	0	3	65				
ZNF304	57343	broad.mit.edu	37	19	57868113	57868113	+	Silent	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:57868113C>T	ENST00000282286.5	+	3	1049	c.876C>T	c.(874-876)caC>caT	p.H292H	ZNF304_ENST00000598744.1_Silent_p.H250H|ZNF304_ENST00000443917.2_Silent_p.H339H|ZNF304_ENST00000391705.3_Silent_p.H292H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCACTTGCACCACCTAAAAA	0.418																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(874-876)caC>caT		zinc finger protein 304							95.0	93.0	94.0					19																	57868113		2203	4300	6503	SO:0001819	synonymous_variant	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868113C>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.876C>T	19.37:g.57868113C>T			Somatic				ZNF304_ENST00000598744.1_Silent_p.H250H|ZNF304_ENST00000443917.2_Silent_p.H339H|ZNF304_ENST00000282286.5_Silent_p.H292H	p.H292H	NM_020657.2	NP_065708.2	WXS	Illumina GAIIx	Phase_I	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1160	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	292						Silent	SNP	ENST00000282286.5	37	c.876C>T	CCDS12950.1																																																																																				0.418	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			15	39	0	0	0	1	0	15	39				
NBPF10	100132406	broad.mit.edu	37	1	145293547	145293547	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr1:145293547G>T	ENST00000369339.3	+	3	395	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.A48S			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	319						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACTCAACTGGCCGGCTTCCT	0.438																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(142-144)Gcc>Tcc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293547G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.142G>T	1.37:g.145293547G>T	ENSP00000358345:p.Ala48Ser		Somatic				NBPF10_ENST00000369339.3_Missense_Mutation_p.A48S|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.A48S	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	177	+	all_hematologic(923;0.032)		48					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.142G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.144|9.144	1.014467|1.014467	0.19277|0.19277	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.03801|.	3.8|.	1.0|1.0	-2.0|-2.0	0.07433|0.07433	.|.	.|.	.|.	.|.	.|.	T|T	0.23649|0.23649	0.0572|0.0572	M|M	0.71296|0.71296	2.17|2.17	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40887|0.40887	-0.9539|-0.9539	7|6	0.56958|0.87932	D|D	0.05|0	.|.	1.9372|1.9372	0.03339|0.03339	0.2412:0.0:0.4556:0.3032|0.2412:0.0:0.4556:0.3032	.|.	.|.	.|.	.|.	S|V	48|7	ENSP00000345684:A48S|.	ENSP00000345684:A48S|ENSP00000414194:G7V	A|G	+|+	1|2	0|0	NBPF10|NBPF10	144004904|144004904	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.898000|-0.898000	0.04105|0.04105	-0.699000|-0.699000	0.05077|0.05077	0.121000|0.121000	0.15741|0.15741	GCC|GGC		0.438	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		54	380	1	0	8.87156e-34	1	8.87156e-34	54	380				
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			3	5						3	5	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			0							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG			Somatic								WXS	Illumina GAIIx	Phase_I					0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		4	5						4	5	---	---	---	---
PANK1	53354	broad.mit.edu	37	10	91404916	91404916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr10:91404916delC	ENST00000307534.4	-	1	299	c.144delG	c.(142-144)gggfs	p.G48fs	PANK1_ENST00000342512.3_5'Flank|RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000488482.1_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA|RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000322191.6_5'Flank|PANK1_ENST00000371774.2_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	48					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TCCCCGCGCACCCCCAGCCGG	0.786																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(142-144)gggfs		pantothenate kinase 1	Bezafibrate(DB01393)						3.0	4.0	4.0					10																	91404916		1257	2904	4161	SO:0001589	frameshift_variant	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91404916delC	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.144delG	10.37:g.91404916delC	ENSP00000302108:p.Gly48fs		Somatic					p.G48fs	NM_148977.2	NP_683878.1	WXS	Illumina GAIIx	Phase_I	Q8TE04	PANK1_HUMAN			1	299	-			48					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Frame_Shift_Del	DEL	ENST00000307534.4	37	c.144delG	CCDS31244.1																																																																																				0.786	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	2						5	2	---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49959401	49959401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:49959401delC	ENST00000550165.1	-	5	465	c.199delG	c.(199-201)gcafs	p.A67fs	MCRS1_ENST00000357123.4_Frame_Shift_Del_p.A80fs|MCRS1_ENST00000343810.4_Frame_Shift_Del_p.A67fs|MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000547182.1_5'Flank			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	67	Ser-rich.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GAAGATTTTGCCAGGCTGCTC	0.562																																						ENST00000550165.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						c.(199-201)gcafs		microspherule protein 1							153.0	162.0	159.0					12																	49959401		2203	4300	6503	SO:0001589	frameshift_variant	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49959401delC	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.199delG	12.37:g.49959401delC	ENSP00000448056:p.Ala67fs		Somatic				MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Frame_Shift_Del_p.A80fs|MCRS1_ENST00000343810.4_Frame_Shift_Del_p.A67fs	p.A67fs			WXS	Illumina GAIIx	Phase_I	Q96EZ8	MCRS1_HUMAN			5	465	-			67			Ser-rich.		O14742|O75497|Q6VN53|Q7Z372	Frame_Shift_Del	DEL	ENST00000550165.1	37	c.199delG	CCDS8787.1																																																																																				0.562	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		67	113						67	113	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78215207	78215207	+	lincRNA	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr15:78215207delC	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							TTCTTCAGGGCCCCAAGGGGA	0.572																																						ENST00000567226.1																			0																																																			0							g.chr15:78215207delC																													15.37:g.78215207delC			Somatic								WXS	Illumina GAIIx	Phase_I					0	306	-									RNA	DEL	ENST00000565869.1	37																																																																																						0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			12	11						12	11	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)cttcct>ctt		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del		Somatic				NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.P194del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del	p.P73del	NM_001144964.1	NP_001138436.1	WXS	Illumina GAIIx	Phase_I	Q96PU5	NED4L_HUMAN			9	807_809	+			194			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			7	167						7	167	---	---	---	---
