#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NPHP4	261734	broad.mit.edu	37	1	5964828	5964828	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:5964828C>T	ENST00000378156.4	-	16	2257	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	664					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.K664K(2)|p.K664N(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATACACAGTCTTTGGCCATG	0.577																																						ENST00000378156.4																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K664K(2)|p.K664N(1)	prostate(2)|large_intestine(1)	NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1990-1992)aaG>aaA		nephronophthisis 4							124.0	127.0	126.0					1																	5964828		2104	4228	6332	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5964828C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1992G>A	1.37:g.5964828C>T						NPHP4_ENST00000478423.2_5'UTR	p.K664K	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	16	2257	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	664					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1992G>A	CCDS44052.1																																																																																				0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			18	124	18	124	---	---	---	---
HP1BP3	50809	broad.mit.edu	37	1	21103089	21103089	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:21103089C>G	ENST00000312239.5	-	4	490		c.e4+1		HP1BP3_ENST00000375003.2_5'Flank|HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3						nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TAACTCCTTACTCCTTTTTGG	0.368																																						ENST00000312239.5																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.e4+1		heterochromatin protein 1, binding protein 3							180.0	179.0	180.0					1																	21103089		2203	4300	6503	SO:0001630	splice_region_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21103089C>G	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.350+1G>C	1.37:g.21103089C>G						HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR		NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	4	490	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)						A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Splice_Site	SNP	ENST00000312239.5	37		CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857102	0.71834	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000419948;ENST00000438032;ENST00000424732;ENST00000417710;ENST00000375000	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HP1BP3	20975676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	2.884000	0.98904	0.655000	0.94253	.		0.368	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	Intron	46	243	46	243	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22216543	22216543	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:22216543T>A	ENST00000374695.3	-	6	584	c.505A>T	c.(505-507)Atc>Ttc	p.I169F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	169	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.I169F(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCGCTGGAGATGACCCTGAGC	0.617																																						ENST00000374695.3																			1	Substitution - Missense(1)	p.I169F(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(505-507)Atc>Ttc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						166.0	146.0	153.0					1																	22216543		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216543T>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.505A>T	1.37:g.22216543T>A	ENSP00000363827:p.Ile169Phe						p.I169F	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	6	584	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	169			SEA.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.505A>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700788	0.48307	.	.	ENSG00000142798	ENST00000374695;ENST00000439717	T;T	0.78924	-1.22;0.62	5.44	-9.89	0.00464	SEA (2);	0.869657	0.09527	N	0.790041	T	0.54367	0.1854	N	0.14661	0.345	0.26106	N	0.980756	B	0.27559	0.181	B	0.26416	0.069	T	0.51387	-0.8712	10	0.72032	D	0.01	.	9.4003	0.38428	0.0:0.2966:0.101:0.6024	.	169	P98160	PGBM_HUMAN	F	169;135	ENSP00000363827:I169F;ENSP00000395884:I135F	ENSP00000363827:I169F	I	-	1	0	HSPG2	22089130	0.000000	0.05858	0.010000	0.14722	0.047000	0.14425	-0.881000	0.04179	-1.781000	0.01277	-1.007000	0.02485	ATC		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		18	147	18	147	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155448258	155448258	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155448258C>A	ENST00000368346.3	-	3	5042	c.4403G>T	c.(4402-4404)aGt>aTt	p.S1468I	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1468					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S1468I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGGAACACTGGGGTAGGT	0.488																																						ENST00000368346.3																			1	Substitution - Missense(1)	p.S1468I(1)	prostate(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4402-4404)aGt>aTt		ash1 (absent, small, or homeotic)-like (Drosophila)							137.0	130.0	132.0					1																	155448258		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448258C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4403G>T	1.37:g.155448258C>A	ENSP00000357330:p.Ser1468Ile					ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I	p.S1468I			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5042	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1468					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.4403G>T		.	.	.	.	.	.	.	.	.	.	C	13.73	2.325692	0.41197	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89343	-2.5;-2.5	5.44	4.51	0.55191	.	0.190148	0.47852	D	0.000220	T	0.71888	0.3393	N	0.14661	0.345	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.70637	-0.4817	10	0.54805	T	0.06	.	15.2272	0.73359	0.1418:0.8582:0.0:0.0	.	1468;1468	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	I	1468	ENSP00000357330:S1468I;ENSP00000376204:S1468I	ENSP00000357330:S1468I	S	-	2	0	ASH1L	153714882	1.000000	0.71417	0.916000	0.36221	0.884000	0.51177	4.418000	0.59828	1.496000	0.48567	0.655000	0.94253	AGT		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		35	175	35	175	---	---	---	---
FASLG	356	broad.mit.edu	37	1	172635069	172635069	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:172635069T>G	ENST00000367721.2	+	4	943	c.759T>G	c.(757-759)agT>agG	p.S253R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	253					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.S253R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ATCTTACCAGTGCTGATCATT	0.473																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			1	Substitution - Missense(1)	p.S253R(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(757-759)agT>agG		Fas ligand (TNF superfamily, member 6)							90.0	88.0	89.0					1																	172635069		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172635069T>G	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.759T>G	1.37:g.172635069T>G	ENSP00000356694:p.Ser253Arg					FASLG_ENST00000340030.3_3'UTR	p.S253R	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			4	943	+			253					Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.759T>G	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	T	8.988	0.976912	0.18812	.	.	ENSG00000117560	ENST00000367721	T	0.62232	0.04	5.34	1.48	0.22813	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.794140	0.12209	N	0.489535	T	0.12774	0.0310	N	0.04355	-0.22	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.26573	-1.0099	10	0.20519	T	0.43	0.1133	2.9927	0.05988	0.1348:0.0837:0.4004:0.381	.	253	P48023	TNFL6_HUMAN	R	253	ENSP00000356694:S253R	ENSP00000356694:S253R	S	+	3	2	FASLG	170901692	0.001000	0.12720	0.662000	0.29724	0.776000	0.43924	0.304000	0.19228	0.337000	0.23665	0.528000	0.53228	AGT		0.473	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			37	208	37	208	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208390820	208390820	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:208390820C>T	ENST00000367033.3	-	2	1205	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	150	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E150K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGGATGGCTCCACCAGGATG	0.582																																						ENST00000367033.3																			1	Substitution - Missense(1)	p.E150K(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(448-450)Gag>Aag		plexin A2							141.0	142.0	141.0					1																	208390820		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390820C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.448G>A	1.37:g.208390820C>T	ENSP00000356000:p.Glu150Lys						p.E150K	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1205	-			150			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.448G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119127	0.94385	.	.	ENSG00000076356	ENST00000367033	T	0.05081	3.5	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.00575	-1.1663	10	0.66056	D	0.02	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	204;150	O75051-2;O75051	.;PLXA2_HUMAN	K	150	ENSP00000356000:E150K	ENSP00000356000:E150K	E	-	1	0	PLXNA2	206457443	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.538000	0.82048	2.697000	0.92050	0.563000	0.77884	GAG		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		8	274	8	274	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1168808	1168808	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:1168808G>T	ENST00000308624.5	+	8	659	c.530G>T	c.(529-531)aGt>aTt	p.S177I	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	177					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S177I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GACCACAGCAGTGGGGCCTCC	0.488																																						ENST00000308624.5																			1	Substitution - Missense(1)	p.S177I(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(529-531)aGt>aTt		syntrophin, gamma 2							139.0	145.0	143.0					2																	1168808		1966	4151	6117	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1168808G>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.530G>T	2.37:g.1168808G>T	ENSP00000311837:p.Ser177Ile					SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	p.S177I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	8	659	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	177					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.530G>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691264	0.68271	.	.	ENSG00000172554	ENST00000308624	T	0.42131	0.98	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.67593	-0.5631	10	0.46703	T	0.11	.	15.4969	0.75662	0.0:0.0:1.0:0.0	.	177	Q9NY99	SNTG2_HUMAN	I	177	ENSP00000311837:S177I	ENSP00000311837:S177I	S	+	2	0	SNTG2	1158808	1.000000	0.71417	0.944000	0.38274	0.651000	0.38670	6.238000	0.72350	2.151000	0.67156	0.643000	0.83706	AGT		0.488	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		47	335	47	335	---	---	---	---
PROKR1	10887	broad.mit.edu	37	2	68873392	68873392	+	Missense_Mutation	SNP	T	T	A	rs35335568		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:68873392T>A	ENST00000303786.3	+	2	859	c.439T>A	c.(439-441)Tct>Act	p.S147T	PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	147					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.S147T(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCGCACTGTCTCTCTCTATGT	0.592																																						ENST00000303786.3																			1	Substitution - Missense(1)	p.S147T(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(439-441)Tct>Act		prokineticin receptor 1							103.0	95.0	98.0					2																	68873392		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873392T>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.439T>A	2.37:g.68873392T>A	ENSP00000303775:p.Ser147Thr					PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T	p.S147T			Q8TCW9	PKR1_HUMAN			2	859	+			147					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.439T>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736496	0.89482	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.39056	1.1;1.1	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.202342	0.53938	D	0.000051	T	0.60261	0.2255	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59364	-0.7468	10	0.42905	T	0.14	.	13.3807	0.60766	0.0:0.0:0.0:1.0	.	147	Q8TCW9	PKR1_HUMAN	T	147	ENSP00000303775:S147T;ENSP00000377874:S147T	ENSP00000303775:S147T	S	+	1	0	PROKR1	68726896	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.728000	0.84847	2.330000	0.79161	0.528000	0.53228	TCT		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			8	213	8	213	---	---	---	---
MRPS9	64965	broad.mit.edu	37	2	105706377	105706377	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:105706377G>C	ENST00000258455.3	+	7	685		c.e7-1			NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9						DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TATTTTAACAGAGACGTGATT	0.303																																						ENST00000258455.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e7-1		mitochondrial ribosomal protein S9							89.0	102.0	97.0					2																	105706377		2203	4300	6503	SO:0001630	splice_region_variant	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105706377G>C		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.576-1G>C	2.37:g.105706377G>C								NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			7	685	+								Q6PG40	Splice_Site	SNP	ENST00000258455.3	37		CCDS2065.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636936	0.67130	.	.	ENSG00000135972	ENST00000258455	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRPS9	105072809	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.778000	0.75043	2.751000	0.94390	0.650000	0.86243	.		0.303	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640	Intron	17	56	17	56	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179438165	179438165	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:179438165T>C	ENST00000591111.1	-	276	67995	c.67771A>G	c.(67771-67773)Aca>Gca	p.T22591A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN_ENST00000589042.1_Missense_Mutation_p.T24232A|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22591	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATAGTTGTCACTTCAGGG	0.458																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72694-72696)Aca>Gca		titin							86.0	86.0	86.0					2																	179438165		1908	4115	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438165T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67771A>G	2.37:g.179438165T>C	ENSP00000465570:p.Thr22591Ala					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN_ENST00000591111.1_Missense_Mutation_p.T22591A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.T24232A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72918	-			22591			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72694A>G		.	.	.	.	.	.	.	.	.	.	T	11.94	1.789455	0.31685	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72260	0.3438	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.74325	-0.3702	9	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	15167;15292;15359;22591	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	21664;15167;15359;15292;15165	ENSP00000343764:T21664A;ENSP00000434586:T15167A;ENSP00000340554:T15359A;ENSP00000352154:T15292A	ENSP00000340554:T15359A	T	-	1	0	TTN	179146411	1.000000	0.71417	0.367000	0.25926	0.661000	0.39034	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	ACA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	183	38	183	---	---	---	---
NGLY1	55768	broad.mit.edu	37	3	25792603	25792603	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:25792603C>G	ENST00000280700.5	-	4	804	c.644G>C	c.(643-645)aGa>aCa	p.R215T	NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T|NGLY1_ENST00000428257.1_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	215					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.R215T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCCAATTTTCTAGCTCTCGA	0.348																																						ENST00000428257.1																			1	Substitution - Missense(1)	p.R215T(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(643-645)aGa>aCa		N-glycanase 1							169.0	165.0	166.0					3																	25792603		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25792603C>G	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.644G>C	3.37:g.25792603C>G	ENSP00000280700:p.Arg215Thr					NGLY1_ENST00000280700.5_Missense_Mutation_p.R215T|NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T|NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T	p.R215T	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			4	751	-			215					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.644G>C	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853777	0.51270	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874	T;T;T;T;T;T	0.21191	2.14;2.14;2.14;2.14;2.02;2.14	5.76	4.71	0.59529	.	0.292925	0.43110	D	0.000615	T	0.14184	0.0343	L	0.42245	1.32	0.28808	N	0.898388	B;B;B;B	0.11235	0.002;0.002;0.002;0.004	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.16808	-1.0390	10	0.13108	T	0.6	-19.3495	5.6206	0.17455	0.0:0.6263:0.181:0.1926	.	173;215;215;215	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	T	215;215;215;212;138;173	ENSP00000387430:R215T;ENSP00000280700:R215T;ENSP00000379886:R215T;ENSP00000307980:R212T;ENSP00000395878:R138T;ENSP00000389888:R173T	ENSP00000280700:R215T	R	-	2	0	NGLY1	25767607	0.992000	0.36948	1.000000	0.80357	0.756000	0.42949	0.575000	0.23729	2.721000	0.93114	0.591000	0.81541	AGA		0.348	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			15	82	15	82	---	---	---	---
XCR1	2829	broad.mit.edu	37	3	46063159	46063159	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:46063159C>G	ENST00000309285.3	-	2	637	c.281G>C	c.(280-282)gGc>gCc	p.G94A	XCR1_ENST00000542109.1_Missense_Mutation_p.G94A	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	94					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.G94A(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGCACCCAGCCCCAGTGGTA	0.547																																						ENST00000309285.3																			1	Substitution - Missense(1)	p.G94A(1)	prostate(1)	NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(280-282)gGc>gCc		chemokine (C motif) receptor 1							94.0	102.0	99.0					3																	46063159		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063159C>G		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.281G>C	3.37:g.46063159C>G	ENSP00000310405:p.Gly94Ala					XCR1_ENST00000542109.1_Missense_Mutation_p.G94A	p.G94A	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	637	-			94						Missense_Mutation	SNP	ENST00000309285.3	37	c.281G>C	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280721	0.59758	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.36699	1.24;1.24	5.35	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.547823	0.19485	N	0.113138	T	0.49474	0.1559	M	0.78637	2.42	0.40423	D	0.979865	P	0.49358	0.923	P	0.57009	0.811	T	0.45190	-0.9278	10	0.45353	T	0.12	.	7.0955	0.25307	0.0:0.6672:0.1231:0.2097	.	94	P46094	XCR1_HUMAN	A	94	ENSP00000310405:G94A;ENSP00000438119:G94A	ENSP00000310405:G94A	G	-	2	0	XCR1	46038163	0.000000	0.05858	0.992000	0.48379	0.929000	0.56500	0.448000	0.21726	0.215000	0.20761	0.650000	0.86243	GGC		0.547	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			10	60	10	60	---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52836783	52836783	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:52836783T>A	ENST00000449956.2	+	13	1676	c.1670T>A	c.(1669-1671)cTc>cAc	p.L557H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	557					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L557H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTGAGCGGCTCTGGGCCTAC	0.607																																						ENST00000449956.2																			2	Substitution - Missense(2)	p.L557H(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1669-1671)cTc>cAc		inter-alpha-trypsin inhibitor heavy chain 3							72.0	81.0	78.0					3																	52836783		2104	4249	6353	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52836783T>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1670T>A	3.37:g.52836783T>A	ENSP00000415769:p.Leu557His					ITIH3_ENST00000416872.2_Intron	p.L557H	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	13	1676	+			557					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1670T>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751055	0.89753	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000449956	T	0.64618	-0.11	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	M	0.92833	3.35	0.52099	D	0.999942	D	0.89917	1.0	D	0.79784	0.993	D	0.87367	0.2348	9	.	.	.	-29.5613	14.3408	0.66624	0.0:0.0:0.0:1.0	.	557	Q06033	ITIH3_HUMAN	H	557;545;552;557	ENSP00000415769:L557H	.	L	+	2	0	ITIH3	52811823	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	7.031000	0.76491	2.217000	0.71921	0.533000	0.62120	CTC		0.607	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		10	48	10	48	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13601501	13601501	+	Silent	SNP	G	G	A	rs367990092		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:13601501G>A	ENST00000040738.5	-	10	7158	c.7023C>T	c.(7021-7023)tcC>tcT	p.S2341S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2341						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2341S(2)									CAATGCTGGCGGAAATTGGCA	0.522																																						ENST00000040738.5																			2	Substitution - coding silent(2)	p.S2341S(2)	large_intestine(1)|prostate(1)								c.(7021-7023)tcC>tcT		biorientation of chromosomes in cell division 1-like 1		G		0,4406		0,0,2203	131.0	98.0	109.0		7023	-10.4	0.0	4		109	1,8599		0,1,4299	no	coding-synonymous	BOD1L	NM_148894.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2341/3052	13601501	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601501G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7023C>T	4.37:g.13601501G>A							p.S2341S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7158	-			2341					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7023C>T	CCDS3411.2																																																																																				0.522	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		10	53	10	53	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897499	175897499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:175897499G>T	ENST00000359240.3	+	5	1493	c.823G>T	c.(823-825)Gag>Tag	p.E275*	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	275	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E275*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTGGAAGTCGGAGAACATTAC	0.413																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - Nonsense(2)	p.E275*(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(823-825)Gag>Tag		ADAM metallopeptidase domain 29							145.0	139.0	141.0					4																	175897499		2203	4300	6503	SO:0001587	stop_gained	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897499G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.823G>T	4.37:g.175897499G>T	ENSP00000352177:p.Glu275*					ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*	p.E275*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1493	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	275			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Nonsense_Mutation	SNP	ENST00000359240.3	37	c.823G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568556	0.86439	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	4.13	-7.75	0.01236	.	7.891310	0.00397	U	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4407	0.04493	0.3931:0.1196:0.3682:0.1191	.	.	.	.	X	275	.	.	E	+	1	0	ADAM29	176134074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.028000	0.00639	-1.700000	0.01414	-0.876000	0.02978	GAG		0.413	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				10	373	10	373	---	---	---	---
LINC01098	285501	broad.mit.edu	37	4	178897079	178897079	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:178897079T>A	ENST00000507870.1	+	5	744	c.282T>A	c.(280-282)taT>taA	p.Y94*															p.Y94*(2)		lung(8)|prostate(1)	9						CTCTGAAGTATATTTTTTCTA	0.378																																						ENST00000507870.1																			2	Substitution - Nonsense(2)	p.Y94*(2)	prostate(2)	lung(8)|prostate(1)	9						c.(280-282)taT>taA									214.0	217.0	216.0					4																	178897079		1859	4094	5953	SO:0001587	stop_gained	285501							g.chr4:178897079T>A																												ENST00000507870.1:c.282T>A	4.37:g.178897079T>A	ENSP00000421352:p.Tyr94*						p.Y94*							5	744	+									Nonsense_Mutation	SNP	ENST00000507870.1	37	c.282T>A		.	.	.	.	.	.	.	.	.	.	T	28.8	4.955048	0.92726	.	.	ENSG00000231171	ENST00000507870	.	.	.	3.68	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.24229	N	0.995402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0789	0.06255	0.2091:0.1155:0.0:0.6754	.	.	.	.	X	94	.	.	Y	+	3	2	RP11-389E17.1	179134073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.070000	0.11523	0.249000	0.21456	0.528000	0.53228	TAT		0.378	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			13	303	13	303	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31267702	31267702	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:31267702C>G	ENST00000265071.2	+	2	387	c.122C>G	c.(121-123)tCt>tGt	p.S41C	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	41					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S41C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGGAGCTCTCTGGAAACAGC	0.483																																						ENST00000265071.2																			1	Substitution - Missense(1)	p.S41C(1)	prostate(1)	NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(121-123)tCt>tGt		cadherin 6, type 2, K-cadherin (fetal kidney)							104.0	111.0	109.0					5																	31267702		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31267702C>G	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.122C>G	5.37:g.31267702C>G	ENSP00000265071:p.Ser41Cys					RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	p.S41C	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			2	387	+			41					A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.122C>G	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977088	0.53720	.	.	ENSG00000113361	ENST00000265071	T	0.58652	0.32	5.8	5.8	0.92144	.	0.564568	0.19898	N	0.103567	T	0.69708	0.3141	L	0.61218	1.895	0.36168	D	0.848592	P;P	0.50943	0.892;0.94	P;P	0.57324	0.571;0.818	T	0.75522	-0.3288	10	0.56958	D	0.05	.	14.8454	0.70257	0.1437:0.8563:0.0:0.0	.	41;41	P55285;P55285-2	CADH6_HUMAN;.	C	41	ENSP00000265071:S41C	ENSP00000265071:S41C	S	+	2	0	CDH6	31303459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.711000	0.37930	2.748000	0.94277	0.655000	0.94253	TCT		0.483	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		23	164	23	164	---	---	---	---
CRHBP	1393	broad.mit.edu	37	5	76259198	76259198	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:76259198G>T	ENST00000274368.4	+	6	1146	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	242					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.D242N(1)|p.D242Y(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAATAGGAGACTTTGTGGA	0.473																																						ENST00000274368.4																			2	Substitution - Missense(2)	p.D242N(1)|p.D242Y(1)	large_intestine(1)|prostate(1)	kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(724-726)Gac>Tac		corticotropin releasing hormone binding protein							169.0	171.0	170.0					5																	76259198		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259198G>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.724G>T	5.37:g.76259198G>T	ENSP00000274368:p.Asp242Tyr					CRHBP_ENST00000514258.1_3'UTR	p.D242Y	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1146	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	242					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.724G>T	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338881	0.81911	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.094660	0.64402	D	0.000001	D	0.83769	0.5326	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85264	0.1052	9	0.87932	D	0	-11.2633	19.7713	0.96366	0.0:0.0:1.0:0.0	.	242	P24387	CRHBP_HUMAN	Y	242	.	ENSP00000274368:D242Y	D	+	1	0	CRHBP	76294954	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.883000	0.92426	2.662000	0.90505	0.643000	0.83706	GAC		0.473	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		64	307	64	307	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79041206	79041206	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:79041206G>A	ENST00000446378.2	+	4	10927	c.10896G>A	c.(10894-10896)atG>atA	p.M3632I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3632	Amphipathic helix H2.|B-box coiled-coil; BBC.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.M3632I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGCAGAGCATGGACACTGCCA	0.488																																						ENST00000446378.2																			2	Substitution - Missense(2)	p.M3632I(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(10894-10896)atG>atA		cardiomyopathy associated 5							133.0	140.0	138.0					5																	79041206		2031	4196	6227	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79041206G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10896G>A	5.37:g.79041206G>A	ENSP00000394770:p.Met3632Ile						p.M3632I	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	4	10927	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3632			Amphipathic helix H2.|B-box coiled-coil; BBC.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.10896G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365676	0.41902	.	.	ENSG00000164309	ENST00000446378	T	0.35236	1.32	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000007	T	0.20941	0.0504	N	0.08118	0	0.33808	D	0.627542	P	0.39480	0.675	B	0.37047	0.24	T	0.33471	-0.9867	10	0.59425	D	0.04	.	12.9843	0.58583	0.0:0.0:0.7345:0.2655	.	3632	Q8N3K9	CMYA5_HUMAN	I	3632	ENSP00000394770:M3632I	ENSP00000394770:M3632I	M	+	3	0	CMYA5	79076962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.512000	0.53407	2.774000	0.95407	0.655000	0.94253	ATG		0.488	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		19	104	19	104	---	---	---	---
LOX	4015	broad.mit.edu	37	5	121413182	121413182	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:121413182C>T	ENST00000231004.4	-	1	798	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	167					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)	p.V167M(1)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCGTCGCCCACCATGCCGTCC	0.622																																						ENST00000231004.4																			1	Substitution - Missense(1)	p.V167M(1)	prostate(1)	endometrium(1)|lung(6)|prostate(1)	8						c.(499-501)Gtg>Atg		lysyl oxidase							49.0	60.0	56.0					5																	121413182		2203	4300	6503	SO:0001583	missense	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121413182C>T		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.499G>A	5.37:g.121413182C>T	ENSP00000231004:p.Val167Met						p.V167M	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	1	798	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	167					B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.499G>A	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984246	0.53827	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.24723	1.84	4.41	3.53	0.40419	.	0.231431	0.35407	N	0.003238	T	0.22322	0.0538	L	0.58101	1.795	0.36817	D	0.88621	B	0.26363	0.147	B	0.21151	0.033	T	0.10730	-1.0617	10	0.35671	T	0.21	.	7.6658	0.28430	0.0:0.6106:0.3:0.0894	.	167	P28300	LYOX_HUMAN	M	167;127	ENSP00000231004:V167M	ENSP00000231004:V167M	V	-	1	0	LOX	121441081	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.631000	0.46502	0.830000	0.34757	0.305000	0.20034	GTG		0.622	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			26	133	26	133	---	---	---	---
LINC00518	221718	broad.mit.edu	37	6	10430136	10430136	+	lincRNA	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:10430136T>G	ENST00000496285.1	-	0	899					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518									p.T118P(1)									TACGCTTAAGTGTGATCACAG	0.483											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000496285.1																			1	Substitution - Missense(1)	p.T118P(1)	prostate(1)																	125.0	129.0	128.0					6																	10430136		2203	4300	6503			221718							g.chr6:10430136T>G	BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430136T>G			OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	664			NR_027793.1						0	899	-									RNA	SNP	ENST00000496285.1	37																																																																																						0.483	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1	NR_027793		58	330	58	330	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32023935	32023935	+	Silent	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:32023935G>T	ENST00000375244.3	-	24	8361	c.8160C>A	c.(8158-8160)acC>acA	p.T2720T	TNXB_ENST00000375247.2_Silent_p.T2720T			P22105	TENX_HUMAN	tenascin XB	2778	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T2807T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCTGGGGGTCTCTTCCT	0.627																																						ENST00000375244.3																			1	Substitution - coding silent(1)	p.T2807T(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8158-8160)acC>acA		tenascin XB							33.0	39.0	37.0					6																	32023935		1227	2524	3751	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32023935G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8160C>A	6.37:g.32023935G>T						TNXB_ENST00000375247.2_Silent_p.T2720T	p.T2720T			P22105	TENX_HUMAN			24	8361	-			2778			Fibronectin type-III 19.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.8160C>A																																																																																					0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	66	9	66	---	---	---	---
MDGA1	266727	broad.mit.edu	37	6	37622688	37622688	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:37622688C>G	ENST00000434837.3	-	5	1778	c.600G>C	c.(598-600)aaG>aaC	p.K200N	MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N|MDGA1_ENST00000297153.7_Missense_Mutation_p.K200N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	200	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.K200N(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGTTCTTCAGCTTCAGGACCT	0.612																																						ENST00000297153.7																			2	Substitution - Missense(2)	p.K200N(2)	prostate(2)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(598-600)aaG>aaC		MAM domain containing glycosylphosphatidylinositol anchor 1							77.0	87.0	83.0					6																	37622688		2115	4215	6330	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622688C>G	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.600G>C	6.37:g.37622688C>G	ENSP00000402584:p.Lys200Asn					MDGA1_ENST00000434837.3_Missense_Mutation_p.K200N|MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N	p.K200N			Q8NFP4	MDGA1_HUMAN			5	1778	-			200			Ig-like 2.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.600G>C	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470225	0.84533	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.12147	2.71;2.71;2.71	5.71	3.95	0.45737	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000087	T	0.11281	0.0275	N	0.26042	0.785	0.50467	D	0.999873	D	0.76494	0.999	D	0.72338	0.977	T	0.10847	-1.0612	10	0.25106	T	0.35	.	11.3662	0.49673	0.0:0.8543:0.0:0.1457	.	200	Q8NFP4	MDGA1_HUMAN	N	200	ENSP00000402584:K200N;ENSP00000297153:K200N;ENSP00000422042:K200N	ENSP00000297153:K200N	K	-	3	2	MDGA1	37730666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.716000	0.47219	0.783000	0.33636	0.650000	0.86243	AAG		0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			15	82	15	82	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54735287	54735287	+	Silent	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:54735287T>C	ENST00000306858.7	+	2	359	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	81								p.D81D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTACTGATGATTCCTGTGATG	0.433																																						ENST00000306858.7																			1	Substitution - coding silent(1)	p.D81D(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(241-243)gaT>gaC		family with sequence similarity 83, member B							131.0	132.0	132.0					6																	54735287		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54735287T>C	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.243T>C	6.37:g.54735287T>C							p.D81D	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	359	+	Lung NSC(77;0.0178)|Renal(3;0.122)		81					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.243T>C	CCDS34479.1																																																																																				0.433	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		53	329	53	329	---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651187	96651187	+	Silent	SNP	C	C	T	rs534420311		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:96651187C>T	ENST00000302103.5	+	3	482	c.156C>T	c.(154-156)aaC>aaT	p.N52N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	52					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.N52N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAATGAAAAACTTCTTTTCCA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18806	0.001		0.0	False		,,,				2504	0.0				Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			1	Substitution - coding silent(1)	p.N52N(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(154-156)aaC>aaT		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							102.0	95.0	97.0					6																	96651187		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651187C>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.156C>T	6.37:g.96651187C>T							p.N52N	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	482	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	52					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.156C>T	CCDS5033.1																																																																																				0.423	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		33	163	33	163	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155451342	155451342	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:155451342C>T	ENST00000461783.3	+	6	2258	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L|TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000318981.5_Silent_p.L329L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	329					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L329L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCATGCCAGCCTGAGCAACCG	0.577																																						ENST00000461783.3																			1	Substitution - coding silent(1)	p.L329L(1)	prostate(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(985-987)Ctg>Ttg		T-cell lymphoma invasion and metastasis 2							82.0	77.0	78.0					6																	155451342		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451342C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.985C>T	6.37:g.155451342C>T						TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000529824.2_Silent_p.L329L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L	p.L329L			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2258	+		Ovarian(120;0.196)	329					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.985C>T	CCDS34558.1																																																																																				0.577	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		15	88	15	88	---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167709633	167709633	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:167709633A>T	ENST00000230256.3	+	3	558	c.383A>T	c.(382-384)aAg>aTg	p.K128M	UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	128			K -> Q (in dbSNP:rs35313366).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K128M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAGGCGGGAAAGCGTGGCAAA	0.552																																						ENST00000230256.3																			1	Substitution - Missense(1)	p.K128M(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(382-384)aAg>aTg		unc-93 homolog A (C. elegans)							236.0	214.0	221.0					6																	167709633		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167709633A>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.383A>T	6.37:g.167709633A>T	ENSP00000230256:p.Lys128Met					UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M	p.K128M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	558	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	128		K -> Q (in dbSNP:rs35313366).			B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.383A>T	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796759	0.31777	.	.	ENSG00000112494	ENST00000503433;ENST00000230256;ENST00000366829	T;T;T	0.33438	1.41;3.37;3.45	5.53	-1.53	0.08611	Major facilitator superfamily domain, general substrate transporter (1);	0.266329	0.36665	N	0.002461	T	0.28962	0.0719	M	0.83953	2.67	0.21020	N	0.999802	P;D	0.67145	0.804;0.996	B;D	0.70016	0.309;0.967	T	0.12192	-1.0557	10	0.45353	T	0.12	-1.2429	1.005	0.01485	0.4822:0.1291:0.1402:0.2484	.	128;128	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	128	ENSP00000421484:K128M;ENSP00000230256:K128M;ENSP00000355794:K128M	ENSP00000230256:K128M	K	+	2	0	UNC93A	167629623	0.997000	0.39634	0.000000	0.03702	0.007000	0.05969	5.113000	0.64640	-0.511000	0.06514	0.533000	0.62120	AAG		0.552	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		30	219	30	219	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	3681627	3681627	+	Silent	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:3681627A>T	ENST00000404826.2	+	4	742	c.603A>T	c.(601-603)acA>acT	p.T201T	AC011284.3_ENST00000427920.1_RNA|SDK1_ENST00000389531.3_Silent_p.T201T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	201	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T201T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGAGGAAAACAGTTTCTCAAG	0.463																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.T201T(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(601-603)acA>acT		sidekick cell adhesion molecule 1							108.0	100.0	103.0					7																	3681627		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:3681627A>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.603A>T	7.37:g.3681627A>T						SDK1_ENST00000389531.3_Silent_p.T201T	p.T201T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	4	742	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	201			Ig-like C2-type 2.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.603A>T	CCDS34590.1																																																																																				0.463	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	203	7	203	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55273231	55273231	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:55273231G>T	ENST00000275493.2	+	28	3731	c.3554G>T	c.(3553-3555)gGc>gTc	p.G1185V	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1185					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G1185V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGCCAAATGGCATCTTTAAG	0.527		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		2	Substitution - Missense(2)	p.G1185V(2)	prostate(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(3553-3555)gGc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68.0	62.0	64.0					7																	55273231		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55273231G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3554G>T	7.37:g.55273231G>T	ENSP00000275493:p.Gly1185Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V|EGFR_ENST00000442591.1_Intron	p.G1185V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		28	3731	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		1185					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.3554G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786059	0.31593	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	D;T	0.81659	-1.52;-1.49	5.34	4.46	0.54185	.	0.094102	0.64402	D	0.000001	D	0.89192	0.6645	M	0.83012	2.62	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.91009	0.4848	10	0.87932	D	0	.	15.1485	0.72677	0.0:0.1422:0.8578:0.0	.	1185	P00533	EGFR_HUMAN	V	1055;1185;1132	ENSP00000275493:G1185V;ENSP00000395243:G1132V	ENSP00000275493:G1185V	G	+	2	0	EGFR	55240725	1.000000	0.71417	0.057000	0.19452	0.050000	0.14768	6.934000	0.75880	1.377000	0.46286	0.558000	0.71614	GGC		0.527	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		9	74	9	74	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432054	117432054	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:117432054G>A	ENST00000160373.3	-	4	1287	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	399	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.P399L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGAAGTGGGGGTGTGCTACT	0.527																																						ENST00000160373.3																			1	Substitution - Missense(1)	p.P399L(1)	prostate(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1195-1197)cCc>cTc		cortactin binding protein 2							198.0	168.0	178.0					7																	117432054		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432054G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1196C>T	7.37:g.117432054G>A	ENSP00000160373:p.Pro399Leu						p.P399L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1287	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		399			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1196C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.674142	0.00758	.	.	ENSG00000077063	ENST00000160373	T	0.64991	-0.13	4.65	3.75	0.43078	.	0.623347	0.16522	N	0.210741	T	0.62804	0.2458	M	0.73962	2.25	0.44515	D	0.997468	B	0.16802	0.019	B	0.15484	0.013	T	0.61004	-0.7150	10	0.32370	T	0.25	1.0999	15.137	0.72576	0.0:0.1422:0.8578:0.0	.	399	Q8WZ74	CTTB2_HUMAN	L	399	ENSP00000160373:P399L	ENSP00000160373:P399L	P	-	2	0	CTTNBP2	117219290	0.994000	0.37717	0.080000	0.20451	0.024000	0.10985	4.860000	0.62961	1.290000	0.44636	0.557000	0.71058	CCC		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		92	272	92	272	---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851472	1851472	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:1851472G>A	ENST00000398564.1	+	16	1751	c.1751G>A	c.(1750-1752)gGc>gAc	p.G584D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.G583D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	584	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G584D(1)|p.G336D(1)|p.G559D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACCTCCAAAGGCCACCCCGAC	0.537																																						ENST00000518288.1																			3	Substitution - Missense(3)	p.G584D(1)|p.G336D(1)|p.G559D(1)	prostate(3)	endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(1747-1749)gGc>gAc		Rho guanine nucleotide exchange factor (GEF) 10							126.0	125.0	125.0					8																	1851472		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1851472G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1751G>A	8.37:g.1851472G>A	ENSP00000381571:p.Gly584Asp					ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G584D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D	p.G583D			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	17	1911	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	584			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.1748G>A		.	.	.	.	.	.	.	.	.	.	G	17.06	3.293141	0.60086	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.06	5.06	0.68205	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	N	0.25647	0.755	0.80722	D	1	D;P;D;D	0.89917	1.0;0.858;1.0;1.0	D;P;D;D	0.97110	1.0;0.627;1.0;0.998	T	0.70132	-0.4956	10	0.56958	D	0.05	-34.2797	18.4361	0.90646	0.0:0.0:1.0:0.0	.	584;545;521;559	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	D	559;521;583;545;584;584;232	ENSP00000340297:G559D;ENSP00000427909:G521D;ENSP00000431012:G583D;ENSP00000381568:G545D;ENSP00000381571:G584D;ENSP00000262112:G584D;ENSP00000427768:G232D	ENSP00000262112:G584D	G	+	2	0	ARHGEF10	1838879	1.000000	0.71417	0.516000	0.27786	0.029000	0.11900	8.989000	0.93506	2.344000	0.79699	0.511000	0.50034	GGC		0.537	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				43	221	43	221	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37126633	37126633	+	Missense_Mutation	SNP	A	A	G	rs201130697		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:37126633A>G	ENST00000336755.5	+	2	410	c.304A>G	c.(304-306)Aga>Gga	p.R102G	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	102						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R102G(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAGTATTTATAGATGTAAAGG	0.393																																						ENST00000336755.5																			1	Substitution - Missense(1)	p.R102G(1)	prostate(1)	central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(304-306)Aga>Gga		zinc finger, CCHC domain containing 7		A	GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	139.0	139.0		304	5.6	1.0	9		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZCCHC7	NM_032226.2	125	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	possibly-damaging	102/544	37126633	2,13004	2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126633A>G	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.304A>G	9.37:g.37126633A>G	ENSP00000337839:p.Arg102Gly					ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G|ZCCHC7_ENST00000461038.1_3'UTR	p.R102G	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	410	+			102					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.304A>G	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682725	0.47991	2.27E-4	1.16E-4	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.46063	1.48;0.88	5.64	5.64	0.86602	.	0.433846	0.27004	N	0.021417	T	0.42921	0.1224	L	0.56769	1.78	0.80722	D	1	P;P	0.38922	0.634;0.651	B;B	0.36845	0.234;0.165	T	0.46569	-0.9182	10	0.66056	D	0.02	-15.7153	16.1412	0.81522	1.0:0.0:0.0:0.0	.	102;102	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	G	102;101	ENSP00000337839:R102G;ENSP00000316365:R101G	ENSP00000316365:R101G	R	+	1	2	ZCCHC7	37116633	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	2.840000	0.48215	2.267000	0.75376	0.519000	0.50382	AGA		0.393	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		13	448	13	448	---	---	---	---
HSDL2	84263	broad.mit.edu	37	9	115200783	115200783	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:115200783T>C	ENST00000398805.3	+	7	898	c.671T>C	c.(670-672)aTt>aCt	p.I224T	HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T|HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	224						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.I224T(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GTTGATATCATTGCAGATGCA	0.368																																						ENST00000398805.3																			1	Substitution - Missense(1)	p.I224T(1)	prostate(1)	NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(670-672)aTt>aCt		hydroxysteroid dehydrogenase like 2							82.0	75.0	77.0					9																	115200783		1882	4101	5983	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115200783T>C	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.671T>C	9.37:g.115200783T>C	ENSP00000381785:p.Ile224Thr					HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T	p.I224T	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			7	898	+			224					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.671T>C	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939946	0.52972	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;D;T;T	0.90504	-2.68;-2.68;1.93;1.9	5.58	4.45	0.53987	.	0.087478	0.85682	D	0.000000	D	0.93446	0.7909	L	0.47716	1.5	0.54753	D	0.999983	B;P	0.34826	0.013;0.471	B;P	0.62184	0.139;0.899	D	0.92754	0.6218	10	0.72032	D	0.01	.	11.0328	0.47783	0.0:0.0723:0.0:0.9277	.	151;224	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	T	224;151;104;19	ENSP00000381785:I224T;ENSP00000381783:I151T;ENSP00000262542:I104T;ENSP00000442278:I19T	ENSP00000262542:I104T	I	+	2	0	HSDL2	114240604	1.000000	0.71417	0.963000	0.40424	0.942000	0.58702	7.646000	0.83445	0.971000	0.38288	0.402000	0.26972	ATT		0.368	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		21	126	21	126	---	---	---	---
LCN2	3934	broad.mit.edu	37	9	130913928	130913928	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130913928G>A	ENST00000373017.1	+	4	524	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000540948.1_Missense_Mutation_p.C96Y			P80188	NGAL_HUMAN	lipocalin 2	96					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)	p.C96Y(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAAAGAAGTGTGACTACTGG	0.582																																						ENST00000540948.1																			1	Substitution - Missense(1)	p.C96Y(1)	prostate(1)	central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(286-288)tGt>tAt		lipocalin 2							64.0	52.0	56.0					9																	130913928		2203	4300	6503	SO:0001583	missense	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130913928G>A		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.287G>A	9.37:g.130913928G>A	ENSP00000362108:p.Cys96Tyr					LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000373017.1_Missense_Mutation_p.C96Y|LCN2_ENST00000470902.1_3'UTR	p.C96Y			P80188	NGAL_HUMAN			3	360	+			96					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP	ENST00000373017.1	37	c.287G>A	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463514	0.43736	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	4.48	3.58	0.41010	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.120536	0.38492	N	0.001680	T	0.43897	0.1268	M	0.89095	3.005	0.18873	N	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.31696	-0.9934	10	0.87932	D	0	-10.3915	8.4588	0.32915	0.1062:0.0:0.8938:0.0	.	96;96	P80188-2;P80188	.;NGAL_HUMAN	Y	96;96;98;96;98	ENSP00000362108:C96Y;ENSP00000277480:C96Y;ENSP00000362104:C98Y;ENSP00000441666:C96Y;ENSP00000362089:C98Y	ENSP00000277480:C96Y	C	+	2	0	LCN2	129953749	0.982000	0.34865	0.031000	0.17742	0.013000	0.08279	3.107000	0.50329	1.266000	0.44231	0.558000	0.71614	TGT		0.582	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		21	117	21	117	---	---	---	---
LINC00842	643650	broad.mit.edu	37	10	47133556	47133556	+	lincRNA	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:47133556A>T	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		tcattaccaaatccattacag	0.453																																						ENST00000422732.2																			0																																																			643650							g.chr10:47133556A>T			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47133556A>T								NR_033957.2						0	435	-									RNA	SNP	ENST00000422732.2	37																																																																																						0.453	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		6	83	6	83	---	---	---	---
NEUROG3	50674	broad.mit.edu	37	10	71332506	71332506	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:71332506G>T	ENST00000242462.4	-	2	323	c.294C>A	c.(292-294)aaC>aaA	p.N98K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	98	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.			N -> D (in Ref. 1; CAB45384). {ECO:0000305}.	central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.N98K(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCGAGTTGAGGTTGTGCATTC	0.642																																						ENST00000242462.4																			1	Substitution - Missense(1)	p.N98K(1)	prostate(1)	endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(292-294)aaC>aaA		neurogenin 3							102.0	65.0	77.0					10																	71332506		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332506G>T	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.294C>A	10.37:g.71332506G>T	ENSP00000242462:p.Asn98Lys						p.N98K	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	323	-			98	N -> D (in Ref. 1; CAB45384).		Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.294C>A	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322645	0.81580	.	.	ENSG00000122859	ENST00000242462	D	0.97772	-4.53	4.53	4.53	0.55603	Helix-loop-helix DNA-binding (5);	0.000000	0.44902	D	0.000420	D	0.95642	0.8583	L	0.28192	0.835	0.80722	D	1	B	0.33777	0.425	B	0.41374	0.355	D	0.95371	0.8464	10	0.46703	T	0.11	-30.952	15.9925	0.80217	0.0:0.0:1.0:0.0	.	98	Q9Y4Z2	NGN3_HUMAN	K	98	ENSP00000242462:N98K	ENSP00000242462:N98K	N	-	3	2	NEUROG3	71002512	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.538000	0.60650	2.307000	0.77673	0.591000	0.81541	AAC		0.642	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		7	44	7	44	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57182087	57182087	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:57182087C>A	ENST00000395123.2	-	11	1365		c.e11+1		SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000529554.1_Splice_Site	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCGCATCTCACCTGTCTTTCT	0.512																																						ENST00000395123.2																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.e11+1		solute carrier family 43, member 3							121.0	121.0	121.0					11																	57182087		2201	4296	6497	SO:0001630	splice_region_variant	29015				transmembrane transport	integral to membrane		g.chr11:57182087C>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1060+1G>T	11.37:g.57182087C>A						SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site		NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			11	1365	-								B4DNR8|E7EQD2|Q9NSS4	Splice_Site	SNP	ENST00000395123.2	37		CCDS7956.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090246	0.36855	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7338	0.62804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A3	56938663	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	4.359000	0.59449	2.314000	0.78098	0.462000	0.41574	.		0.512	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	Intron	19	253	19	253	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979678	58979678	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:58979678G>A	ENST00000361050.3	-	1	746	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	221	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.L221F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGGCCCTGAGGTGGTCCTCC	0.572																																						ENST00000361050.3																			1	Substitution - Missense(1)	p.L221F(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(661-663)Ctc>Ttc		macrophage expressed 1							56.0	55.0	56.0					11																	58979678		1960	4127	6087	SO:0001583	missense	219972					integral to membrane		g.chr11:58979678G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.661C>T	11.37:g.58979678G>A	ENSP00000354335:p.Leu221Phe						p.L221F	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	746	-		all_epithelial(135;0.125)	221			MACPF.		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.661C>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	g	8.968	0.972211	0.18736	.	.	ENSG00000197629	ENST00000361050	D	0.85484	-1.99	5.21	-0.457	0.12186	Membrane attack complex component/perforin (MACPF) domain (3);	0.258018	0.33005	N	0.005400	T	0.78227	0.4250	L	0.47190	1.495	0.25942	N	0.982856	P	0.35363	0.497	B	0.39503	0.301	T	0.70212	-0.4934	10	0.72032	D	0.01	-13.4878	5.7602	0.18196	0.0:0.1649:0.4443:0.3908	.	221	Q2M385	MPEG1_HUMAN	F	221	ENSP00000354335:L221F	ENSP00000354335:L221F	L	-	1	0	MPEG1	58736254	0.999000	0.42202	0.957000	0.39632	0.286000	0.27126	1.035000	0.30216	-0.017000	0.14103	-0.265000	0.10407	CTC		0.572	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		12	98	12	98	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65271551	65271551	+	lincRNA	SNP	A	A	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:65271551A>G	ENST00000534336.1	+	0	6319					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TATTGACCTTATATAGGGAAG	0.368																																						ENST00000534336.1																			0																				28.0	30.0	29.0					11																	65271551		874	1988	2862			378938							g.chr11:65271551A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271551A>G								NR_002819.2						0	6319	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.368	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		7	45	7	45	---	---	---	---
ZDHHC24	254359	broad.mit.edu	37	11	66314404	66314404	+	5'Flank	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:66314404T>A	ENST00000310442.3	-	0	0				ZDHHC24_ENST00000525925.1_5'Flank|ZDHHC24_ENST00000526986.1_5'Flank|ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24							integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGGAGCCCGATCGAGATGATG	0.667																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							8.0	10.0	9.0					11																	66314404		1932	4119	6051	SO:0001631	upstream_gene_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66314404T>A	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98			11.37:g.66314404T>A	Exception_encountered					ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	93	+								Q6PEW7|Q9BSJ0	RNA	SNP	ENST00000310442.3	37		CCDS8143.1																																																																																				0.667	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		5	13	5	13	---	---	---	---
ART4	420	broad.mit.edu	37	12	14993378	14993378	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:14993378C>A	ENST00000228936.4	-	2	1235		c.e2+1		RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)						arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.?(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						ATAAAGAATACCTTTTAGCAG	0.388																																						ENST00000228936.4																			1	Unknown(1)	p.?(1)	prostate(1)	large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.e2+1		ADP-ribosyltransferase 4							47.0	46.0	47.0					12																	14993378		2203	4300	6503	SO:0001630	splice_region_variant	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993378C>A	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.853+1G>T	12.37:g.14993378C>A						C12orf60_ENST00000527783.1_Intron		NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			2	1235	-								Q9BZ50|Q9BZ51|Q9HB06	Splice_Site	SNP	ENST00000228936.4	37		CCDS8668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.58|12.58	1.980033|1.980033	0.34942|0.34942	.|.	.|.	ENSG00000111339|ENSG00000111339	ENST00000228936|ENST00000420600	.|T	.|0.10763	.|2.84	3.47|3.47	1.4|1.4	0.22301|0.22301	.|.	.|.	.|.	.|.	.|.	.|T	.|0.19685	.|0.0473	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.01413	.|-1.1361	.|6	.|0.72032	.|D	.|0.01	.|.	9.3461|9.3461	0.38109|0.38109	0.5109:0.4891:0.0:0.0|0.5109:0.4891:0.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|268	.|ENSP00000405689:G268V	.|ENSP00000405689:G268V	.|G	-|-	.|2	.|0	ART4|ART4	14884645|14884645	.|.	.|.	0.885000|0.885000	0.34714|0.34714	0.928000|0.928000	0.56348|0.56348	.|.	.|.	0.344000|0.344000	0.23847|0.23847	0.655000|0.655000	0.94253|0.94253	.|GGT		0.388	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	Intron	17	109	17	109	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49443872	49443872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:49443872C>A	ENST00000301067.7	-	11	3498	c.3499G>T	c.(3499-3501)Gag>Tag	p.E1167*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1167	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E1167*(1)|p.E894*(1)									GGGTAGACCTCCATAGGGGTC	0.617																																						ENST00000301067.7																			2	Substitution - Nonsense(2)	p.E1167*(1)|p.E894*(1)	prostate(2)								c.(3499-3501)Gag>Tag		lysine (K)-specific methyltransferase 2D							59.0	64.0	62.0					12																	49443872		1970	4139	6109	SO:0001587	stop_gained	8085							g.chr12:49443872C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3499G>T	12.37:g.49443872C>A	ENSP00000301067:p.Glu1167*						p.E1167*	NM_003482.3	NP_003473.3					11	3498	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3499G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	41	8.806158	0.98960	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.4	4.49	0.54785	.	0.000000	0.37348	N	0.002137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0207	0.42041	0.1557:0.694:0.1502:0.0	.	.	.	.	X	1167	.	ENSP00000301067:E1167X	E	-	1	0	MLL2	47730139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.513000	0.53414	1.231000	0.43661	0.563000	0.77884	GAG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	148	28	148	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62946846	62946846	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:62946846G>A	ENST00000393632.2	+	24	3493	c.3102G>A	c.(3100-3102)gtG>gtA	p.V1034V	MON2_ENST00000552115.1_Silent_p.V1034V|MON2_ENST00000393629.2_Silent_p.V1034V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000393630.3_Silent_p.V1035V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1034					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V1034V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACTATGTGTGGATCCCCGTC	0.453																																						ENST00000393630.3																			1	Substitution - coding silent(1)	p.V1034V(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(3103-3105)gtG>gtA		MON2 homolog (S. cerevisiae)							234.0	224.0	227.0					12																	62946846		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62946846G>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3102G>A	12.37:g.62946846G>A						MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000393629.2_Silent_p.V1034V|MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000393632.2_Silent_p.V1034V|MON2_ENST00000552115.1_Silent_p.V1034V	p.V1035V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	25	3496	+			1035					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.3105G>A	CCDS31849.1																																																																																				0.453	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		8	326	8	326	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66725338	66725338	+	Silent	SNP	A	A	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66725338A>G	ENST00000247815.4	+	12	3134	c.3075A>G	c.(3073-3075)gtA>gtG	p.V1025V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1025					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.V1025V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGATGGAGTAGATACAGATG	0.438																																						ENST00000247815.4																			1	Substitution - coding silent(1)	p.V1025V(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(3073-3075)gtA>gtG		helicase (DNA) B							83.0	77.0	79.0					12																	66725338		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725338A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3075A>G	12.37:g.66725338A>G							p.V1025V	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	3134	+			1025					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.3075A>G	CCDS8976.1																																																																																				0.438	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			26	133	26	133	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21417991	21417991	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:21417991A>C	ENST00000255305.6	-	5	562	c.491T>G	c.(490-492)tTg>tGg	p.L164W	XPO4_ENST00000400602.2_Missense_Mutation_p.L164W			Q9C0E2	XPO4_HUMAN	exportin 4	164					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L137W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAATTCACTCAATAGCGCAGT	0.348																																						ENST00000400602.2																			1	Substitution - Missense(1)	p.L137W(1)	prostate(1)	breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(490-492)tTg>tGg		exportin 4							109.0	97.0	101.0					13																	21417991		1842	4084	5926	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21417991A>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.491T>G	13.37:g.21417991A>C	ENSP00000255305:p.Leu164Trp					XPO4_ENST00000255305.6_Missense_Mutation_p.L164W	p.L164W	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	5	526	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	164					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.491T>G	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479171	0.84747	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.69040	-0.37;-0.37	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	M	0.65498	2.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.74023	0.982	T	0.82388	-0.0482	10	0.87932	D	0	-4.2327	16.8222	0.85835	1.0:0.0:0.0:0.0	.	164	Q9C0E2	XPO4_HUMAN	W	164;34;164	ENSP00000383444:L164W;ENSP00000255305:L164W	ENSP00000255305:L164W	L	-	2	0	XPO4	20315991	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TTG		0.348	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		32	165	32	165	---	---	---	---
LRRC74A	145497	broad.mit.edu	37	14	77302633	77302633	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:77302633A>T	ENST00000393774.3	+	4	598	c.474A>T	c.(472-474)caA>caT	p.Q158H	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H	NM_194287.2	NP_919263.2												p.Q158H(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGATGCTACAAGAGAACTACT	0.552																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			1	Substitution - Missense(1)	p.Q158H(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(472-474)caA>caT		chromosome 14 open reading frame 166B							164.0	119.0	134.0					14																	77302633		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77302633A>T																												ENST00000393774.3:c.474A>T	14.37:g.77302633A>T	ENSP00000377369:p.Gln158His					C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H|C14orf166B_ENST00000460005.1_3'UTR	p.Q158H	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	4	598	+			158						Missense_Mutation	SNP	ENST00000393774.3	37	c.474A>T	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	A	7.845	0.722792	0.15439	.	.	ENSG00000100565	ENST00000393774;ENST00000450042	T;T	0.53857	0.6;2.23	5.76	-11.5	0.00074	.	0.569930	0.18553	N	0.137860	T	0.26011	0.0634	L	0.31476	0.935	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.56288	-0.8004	10	0.49607	T	0.09	.	3.4169	0.07378	0.4241:0.0601:0.1472:0.3687	.	158	Q0VAA2	CN16B_HUMAN	H	158;141	ENSP00000377369:Q158H;ENSP00000396260:Q141H	ENSP00000216450:Q158H	Q	+	3	2	C14orf166B	76372386	0.007000	0.16637	0.000000	0.03702	0.910000	0.53928	-1.175000	0.03102	-4.375000	0.00053	-0.911000	0.02809	CAA		0.552	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			8	20	8	20	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102505453	102505453	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:102505453G>T	ENST00000360184.4	+	60	11486	c.11322G>T	c.(11320-11322)aaG>aaT	p.K3774N	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3774	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.K3774N(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCTGAAGAGAGAGGCTG	0.537																																						ENST00000360184.4																			1	Substitution - Missense(1)	p.K3774N(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11320-11322)aaG>aaT		dynein, cytoplasmic 1, heavy chain 1							89.0	83.0	85.0					14																	102505453		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102505453G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11322G>T	14.37:g.102505453G>T	ENSP00000348965:p.Lys3774Asn					RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	p.K3774N	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			60	11486	+			3774			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11322G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590016	0.96590	.	.	ENSG00000197102	ENST00000360184	T	0.68181	-0.31	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.87932	D	0	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	3774	Q14204	DYHC1_HUMAN	N	3774	ENSP00000348965:K3774N	ENSP00000348965:K3774N	K	+	3	2	DYNC1H1	101575206	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.974000	0.88039	2.815000	0.96918	0.561000	0.74099	AAG		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		21	130	21	130	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369362	22369362	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:22369362C>A	ENST00000332663.2	+	1	885	c.787C>A	c.(787-789)Cca>Aca	p.P263T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P263T(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATGCTCGCCCATTTGACTC	0.418																																						ENST00000332663.2																			1	Substitution - Missense(1)	p.P263T(1)	prostate(1)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(787-789)Cca>Aca		olfactory receptor, family 4, subfamily M, member 2							309.0	231.0	257.0					15																	22369362		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369362C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.787C>A	15.37:g.22369362C>A	ENSP00000329467:p.Pro263Thr					RP11-69H14.6_ENST00000558896.1_RNA	p.P263T	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	885	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	263					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.787C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.959070	0.34565	.	.	ENSG00000182974	ENST00000332663	T	0.00274	8.35	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.00875	0.0029	H	0.94886	3.595	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14615	-1.0466	10	0.87932	D	0	-9.8614	10.3191	0.43756	0.0:1.0:0.0:0.0	.	263	Q8NGB6	OR4M2_HUMAN	T	263	ENSP00000329467:P263T	ENSP00000329467:P263T	P	+	1	0	OR4M2	19870726	0.872000	0.30054	0.997000	0.53966	0.856000	0.48823	4.728000	0.62000	1.297000	0.44761	0.448000	0.29417	CCA		0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			39	616	39	616	---	---	---	---
GPR139	124274	broad.mit.edu	37	16	20043984	20043984	+	Silent	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:20043984G>T	ENST00000570682.1	-	2	435	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	45					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.I45I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCACTGTCAAGATATTTGCTG	0.478																																						ENST00000570682.1																			1	Substitution - coding silent(1)	p.I45I(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(133-135)atC>atA		G protein-coupled receptor 139							42.0	44.0	43.0					16																	20043984		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043984G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.135C>A	16.37:g.20043984G>T							p.I45I	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	435	-			45					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.135C>A	CCDS32398.1																																																																																				0.478	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		4	48	4	48	---	---	---	---
GSG1L	146395	broad.mit.edu	37	16	27802719	27802719	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802719T>G	ENST00000447459.2	-	7	1052	c.968A>C	c.(967-969)cAg>cCg	p.Q323P	GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000380898.2_Missense_Mutation_p.Q186P	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	323					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q168P(1)|p.Q323P(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GACCCAGCACTGTCGGTTCAG	0.642																																						ENST00000380898.2																			2	Substitution - Missense(2)	p.Q168P(1)|p.Q323P(1)	prostate(2)	endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(556-558)cAg>cCg		GSG1-like							78.0	66.0	70.0					16																	27802719		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27802719T>G	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.968A>C	16.37:g.27802719T>G	ENSP00000394954:p.Gln323Pro					GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000447459.2_Missense_Mutation_p.Q323P	p.Q186P			Q6UXU4	GSG1L_HUMAN			8	1106	-			323					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.557A>C	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168556	0.38315	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.32988	1.46;1.43	2.99	2.99	0.34606	.	0.090204	0.47455	D	0.000230	T	0.29126	0.0724	N	0.08118	0	0.32553	N	0.532067	P;P;P	0.47106	0.89;0.775;0.824	D;B;P	0.64237	0.923;0.198;0.84	T	0.34279	-0.9835	10	0.87932	D	0	-0.0395	7.8124	0.29239	0.0:0.0:0.0:1.0	.	272;186;323	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	P	323;272;186;168	ENSP00000394954:Q323P;ENSP00000379074:Q272P	ENSP00000370282:Q168P	Q	-	2	0	GSG1L	27710220	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.898000	0.48672	1.624000	0.50355	0.413000	0.27773	CAG		0.642	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		14	96	14	96	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46712857	46712857	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:46712857G>C	ENST00000299138.7	-	6	776	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	240					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.Q240E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATATAAACCTGTTTGTAACGT	0.308																																						ENST00000299138.7																			1	Substitution - Missense(1)	p.Q240E(1)	prostate(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(718-720)Cag>Gag		vacuolar protein sorting 35 homolog (S. cerevisiae)							121.0	120.0	121.0					16																	46712857		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46712857G>C	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.718C>G	16.37:g.46712857G>C	ENSP00000299138:p.Gln240Glu					VPS35_ENST00000568642.1_5'UTR	p.Q240E	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			6	776	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	240					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.718C>G	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	12.59	1.983281	0.35036	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.63096	-0.02	5.31	5.31	0.75309	.	0.053959	0.85682	N	0.000000	T	0.29882	0.0747	N	0.00642	-1.3	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.47812	-0.9088	10	0.02654	T	1	-8.1024	19.4079	0.94655	0.0:0.0:1.0:0.0	.	240;105	Q96QK1;F5GYF5	VPS35_HUMAN;.	E	240;105	ENSP00000299138:Q240E	ENSP00000299138:Q240E	Q	-	1	0	VPS35	45270358	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.813000	0.99286	2.654000	0.90174	0.454000	0.30748	CAG		0.308	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			39	188	39	188	---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	674590	674590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:674590G>A	ENST00000301328.5	-	6	586	c.563C>T	c.(562-564)gCt>gTt	p.A188V	GLOD4_ENST00000301329.6_Missense_Mutation_p.A173V|GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	188						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.A173V(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCCCAGCAAAGCCCTTTGCTT	0.368																																						ENST00000301329.6																			1	Substitution - Missense(1)	p.A173V(1)	prostate(1)	endometrium(1)|large_intestine(1)|prostate(1)	3						c.(517-519)gCt>gTt		glyoxalase domain containing 4							191.0	195.0	194.0					17																	674590		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:674590G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.563C>T	17.37:g.674590G>A	ENSP00000301328:p.Ala188Val					GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V|GLOD4_ENST00000301328.5_Missense_Mutation_p.A188V	p.A173V	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	5	603	-			188					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.518C>T		.	.	.	.	.	.	.	.	.	.	G	11.36	1.615148	0.28712	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.51325	0.77;0.76;0.71	5.97	5.01	0.66863	.	0.291593	0.37483	N	0.002079	T	0.41719	0.1171	L	0.43701	1.375	0.48571	D	0.999679	B;B;B	0.13145	0.002;0.005;0.007	B;B;B	0.19666	0.014;0.026;0.013	T	0.21042	-1.0257	10	0.29301	T	0.29	-9.2143	14.4427	0.67327	0.0703:0.0:0.9297:0.0	.	164;188;173	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	V	173;376;188;164	ENSP00000301329:A173V;ENSP00000301328:A188V;ENSP00000444315:A164V	ENSP00000301328:A188V	A	-	2	0	GLOD4	621340	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.878000	0.48515	1.536000	0.49237	0.655000	0.94253	GCT		0.368	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		51	396	51	396	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7673934	7673934	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:7673934G>A	ENST00000572933.1	+	26	5618	c.4158G>A	c.(4156-4158)aaG>aaA	p.K1386K	DNAH2_ENST00000389173.2_Silent_p.K1386K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1386	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1386K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCCTACAAGGATAAGGGCC	0.552																																						ENST00000572933.1																			1	Substitution - coding silent(1)	p.K1386K(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(4156-4158)aaG>aaA		dynein, axonemal, heavy chain 2							86.0	84.0	85.0					17																	7673934		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7673934G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4158G>A	17.37:g.7673934G>A						DNAH2_ENST00000389173.2_Silent_p.K1386K	p.K1386K			Q9P225	DYH2_HUMAN			26	5618	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1386			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.4158G>A	CCDS32551.1																																																																																				0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		42	182	42	182	---	---	---	---
ANKRD13B	124930	broad.mit.edu	37	17	27934857	27934857	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:27934857G>A	ENST00000394859.3	+	2	366	c.212G>A	c.(211-213)gGc>gAc	p.G71D	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	71						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.G71D(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CTGGCGCACGGCGCAGACGTG	0.701																																						ENST00000394859.3																			1	Substitution - Missense(1)	p.G71D(1)	prostate(1)	cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(211-213)gGc>gAc		ankyrin repeat domain 13B							23.0	26.0	25.0					17																	27934857		2198	4290	6488	SO:0001583	missense	124930							g.chr17:27934857G>A	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.212G>A	17.37:g.27934857G>A	ENSP00000378328:p.Gly71Asp					RP11-68I3.2_ENST00000581474.1_RNA	p.G71D	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			2	366	+			71					Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.212G>A	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549985	0.86127	.	.	ENSG00000198720	ENST00000394859	T	0.79141	-1.24	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82953	0.5149	M	0.79011	2.435	0.80722	D	1	P	0.41041	0.736	P	0.46026	0.501	T	0.81291	-0.0999	10	0.31617	T	0.26	-20.8698	19.2592	0.93961	0.0:0.0:1.0:0.0	.	71	Q86YJ7	AN13B_HUMAN	D	71	ENSP00000378328:G71D	ENSP00000378328:G71D	G	+	2	0	ANKRD13B	24958983	1.000000	0.71417	0.948000	0.38648	0.900000	0.52787	6.762000	0.74950	2.637000	0.89404	0.561000	0.74099	GGC		0.701	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		16	72	16	72	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34174030	34174030	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:34174030C>G	ENST00000592237.1	+	19	1803	c.1274C>G	c.(1273-1275)gCc>gGc	p.A425G	TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR			Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTCCTCGTGGCCTCTTCTTGG	0.438			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000592237.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1273-1275)gCc>gGc		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							117.0	86.0	95.0					17																	34174030		692	1591	2283	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34174030C>G	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.1274C>G	17.37:g.34174030C>G	ENSP00000467528:p.Ala425Gly					TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR	p.A425G			Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	19	1803	+		Ovarian(249;0.17)	0			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000592237.1	37	c.1274C>G																																																																																					0.438	TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1	NM_139215		13	88	13	88	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60140573	60140573	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:60140573G>A	ENST00000397786.2	-	2	232	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	52					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P52P(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTCAAAATGGGGTCTTCTT	0.453																																						ENST00000397786.2																			1	Substitution - coding silent(1)	p.P52P(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(154-156)ccC>ccT		mediator complex subunit 13							141.0	140.0	140.0					17																	60140573		1849	4089	5938	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60140573G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.156C>T	17.37:g.60140573G>A							p.P52P	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			2	232	-			52					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.156C>T	CCDS42366.1																																																																																				0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		67	287	67	287	---	---	---	---
NPTX1	4884	broad.mit.edu	37	17	78449346	78449346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:78449346G>T	ENST00000306773.4	-	2	774	c.617C>A	c.(616-618)aCc>aAc	p.T206N	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	206					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T206N(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGCAGGGAGGTCAGGGCGGT	0.687																																						ENST00000306773.4																			1	Substitution - Missense(1)	p.T206N(1)	prostate(1)	kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(616-618)aCc>aAc		neuronal pentraxin I							48.0	36.0	40.0					17																	78449346		2201	4300	6501	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78449346G>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.617C>A	17.37:g.78449346G>T	ENSP00000307549:p.Thr206Asn					NPTX1_ENST00000575212.1_5'UTR	p.T206N	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	774	-	all_neural(118;0.0538)		206					B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.617C>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	G	3.280	-0.147254	0.06627	.	.	ENSG00000171246	ENST00000306773	T	0.08370	3.1	3.6	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.22421	0.69	0.49483	D	0.999794	D	0.65815	0.995	P	0.55112	0.769	T	0.08411	-1.0723	10	0.02654	T	1	-22.3885	11.8845	0.52594	0.0:0.1788:0.8212:0.0	.	206	Q15818	NPTX1_HUMAN	N	206	ENSP00000307549:T206N	ENSP00000307549:T206N	T	-	2	0	NPTX1	76063941	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.060000	0.71141	0.812000	0.34326	0.561000	0.74099	ACC		0.687	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			6	46	6	46	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5445182	5445182	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:5445182T>G	ENST00000341928.2	-	4	783	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	148	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.K148T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAGTAGTCTTTCTCTAGCAA	0.408																																						ENST00000341928.2																			1	Substitution - Missense(1)	p.K148T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(442-444)aAa>aCa		erythrocyte membrane protein band 4.1-like 3							202.0	160.0	174.0					18																	5445182		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5445182T>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.443A>C	18.37:g.5445182T>G	ENSP00000343158:p.Lys148Thr					EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T	p.K148T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			4	783	-			148			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.443A>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479266	0.84747	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.82	5.82	0.92795	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.048148	0.85682	D	0.000000	D	0.82646	0.5082	L	0.49778	1.585	0.80722	D	1	D;P;D;D;P	0.89917	0.999;0.923;1.0;1.0;0.943	D;P;D;D;D	0.85130	0.997;0.717;0.992;0.986;0.929	T	0.82669	-0.0343	10	0.46703	T	0.11	.	15.1603	0.72778	0.0:0.0:0.0:1.0	.	148;148;39;148;148	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	T	148;39;148;39;148;148;229	ENSP00000343158:K148T;ENSP00000441174:K148T;ENSP00000341138:K148T;ENSP00000382981:K148T	ENSP00000343158:K148T	K	-	2	0	EPB41L3	5435182	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.713000	0.61895	2.222000	0.72286	0.383000	0.25322	AAA		0.408	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		48	278	48	278	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:42530401G>A	ENST00000282030.5	+	4	1392	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	366						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E366K(2)|p.E312K(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453									Schinzel-Giedion syndrome																													ENST00000282030.5																			4	Substitution - Missense(4)	p.E366K(2)|p.E312K(2)	urinary_tract(2)|prostate(2)	NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1096-1098)Gaa>Aaa		SET binding protein 1							66.0	66.0	66.0					18																	42530401		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530401G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1096G>A	18.37:g.42530401G>A	ENSP00000282030:p.Glu366Lys						p.E366K	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1392	+			366					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1096G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943478	0.73672	.	.	ENSG00000152217	ENST00000282030	T	0.35789	1.29	5.78	5.78	0.91487	.	0.051457	0.85682	D	0.000000	T	0.32102	0.0818	L	0.29908	0.895	0.39722	D	0.971481	B	0.15930	0.015	B	0.24269	0.052	T	0.08827	-1.0703	10	0.20046	T	0.44	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	366	Q9Y6X0	SETBP_HUMAN	K	366	ENSP00000282030:E366K	ENSP00000282030:E366K	E	+	1	0	SETBP1	40784399	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	5.871000	0.69628	2.894000	0.99253	0.655000	0.94253	GAA		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		33	149	33	149	---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3643243	3643243	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:3643243G>A	ENST00000335312.3	-	13	1735	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y	PIP5K1C_ENST00000539785.1_Silent_p.Y549Y|PIP5K1C_ENST00000537021.1_Silent_p.Y549Y|PIP5K1C_ENST00000589578.1_Silent_p.Y549Y	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	549					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.Y549Y(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGCCCACCTGTACCGCGGCT	0.657																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - coding silent(1)	p.Y549Y(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1645-1647)taC>taT		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							80.0	71.0	74.0					19																	3643243		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3643243G>A	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1647C>T	19.37:g.3643243G>A						PIP5K1C_ENST00000539785.1_Silent_p.Y549Y|PIP5K1C_ENST00000537021.1_Silent_p.Y549Y|PIP5K1C_ENST00000589578.1_Silent_p.Y549Y	p.Y549Y	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	13	1735	-		Hepatocellular(1079;0.137)	549					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.1647C>T	CCDS32872.1																																																																																				0.657	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		14	64	14	64	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41903833	41903833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:41903833C>A	ENST00000269980.2	+	1	469	c.101C>A	c.(100-102)gCt>gAt	p.A34D	CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000221233.4_5'Flank|EXOSC5_ENST00000596905.1_5'Flank|BCKDHA_ENST00000457836.2_Intron|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000540732.1_Intron	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	34					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.A34D(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGGGGACTGGCTAGATCTGTG	0.602																																						ENST00000269980.2																			1	Substitution - Missense(1)	p.A34D(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(100-102)gCt>gAt		branched chain keto acid dehydrogenase E1, alpha polypeptide							19.0	21.0	20.0					19																	41903833		2202	4297	6499	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41903833C>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.101C>A	19.37:g.41903833C>A	ENSP00000269980:p.Ala34Asp					BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000457836.2_Intron	p.A34D	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			1	469	+			34					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.101C>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487951	0.44249	.	.	ENSG00000248098	ENST00000269980;ENST00000542943;ENST00000378196	D;D	0.98044	-4.66;-4.68	4.98	2.81	0.32909	.	.	.	.	.	D	0.91449	0.7301	N	0.08118	0	0.39075	D	0.960785	B;B	0.19200	0.034;0.008	B;B	0.20767	0.031;0.006	D	0.85914	0.1442	9	0.33940	T	0.23	.	6.1107	0.20100	0.1861:0.7188:0.0:0.0951	.	34;34	Q59EI3;P12694	.;ODBA_HUMAN	D	34	ENSP00000269980:A34D;ENSP00000440345:A34D	ENSP00000269980:A34D	A	+	2	0	BCKDHA	46595673	0.932000	0.31603	0.438000	0.26821	0.869000	0.49853	1.817000	0.39002	0.774000	0.33427	0.643000	0.83706	GCT		0.602	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		6	57	6	57	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42492276	42492276	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42492276T>C	ENST00000302102.5	-	4	319	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	ATP1A3_ENST00000545399.1_Missense_Mutation_p.K70E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000468774.2_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	57					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.K57E(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTGGGCTTTGCTGTGGGTC	0.627																																						ENST00000545399.1																			1	Substitution - Missense(1)	p.K57E(1)	prostate(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(208-210)Aaa>Gaa		ATPase, Na+/K+ transporting, alpha 3 polypeptide							86.0	88.0	88.0					19																	42492276		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492276T>C		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.169A>G	19.37:g.42492276T>C	ENSP00000302397:p.Lys57Glu					ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K57E	p.K70E	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			4	361	-			57					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.208A>G	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979907	0.34942	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	4.52	3.46	0.39613	ATPase, P-type cation-transporter, N-terminal (2);	0.053752	0.64402	D	0.000003	T	0.62962	0.2471	N	0.01789	-0.72	0.40538	D	0.980996	B;B;B;B	0.13594	0.0;0.0;0.008;0.0	B;B;B;B	0.21360	0.002;0.003;0.034;0.005	T	0.52419	-0.8578	10	0.17832	T	0.49	.	9.4666	0.38817	0.0:0.0:0.1792:0.8208	.	70;68;57;57	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	E	57;57;70;27;68;70	ENSP00000302397:K57E;ENSP00000411503:K57E;ENSP00000444688:K70E;ENSP00000437577:K68E	ENSP00000302397:K57E	K	-	1	0	ATP1A3	47184116	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.529000	0.45632	0.662000	0.31006	0.402000	0.26972	AAA		0.627	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		20	113	20	113	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48176998	48176998	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:48176998C>A	ENST00000396720.3	+	4	257	c.63C>A	c.(61-63)gaC>gaA	p.D21E	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	21								p.D21E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCAATGACTTCTTGCATG	0.592																																						ENST00000396720.3																			1	Substitution - Missense(1)	p.D21E(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(61-63)gaC>gaA		glioma tumor suppressor candidate region gene 1							102.0	95.0	97.0					19																	48176998		1568	3582	5150	SO:0001583	missense	29998						protein binding	g.chr19:48176998C>A	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.63C>A	19.37:g.48176998C>A	ENSP00000379946:p.Asp21Glu					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.D21E	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	4	257	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	21					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.63C>A	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	c	10.82	1.459259	0.26248	.	.	ENSG00000063169	ENST00000396720	D	0.81579	-1.51	3.72	1.32	0.21799	.	.	.	.	.	T	0.75547	0.3864	L	0.36672	1.1	0.31021	N	0.7181	D	0.67145	0.996	P	0.59703	0.862	T	0.68876	-0.5293	9	0.02654	T	1	.	6.2586	0.20887	0.0:0.5254:0.0:0.4746	.	21	Q9NZM4	GSCR1_HUMAN	E	21	ENSP00000379946:D21E	ENSP00000379946:D21E	D	+	3	2	GLTSCR1	52868810	0.998000	0.40836	0.997000	0.53966	0.954000	0.61252	0.441000	0.21611	0.217000	0.20800	0.556000	0.70494	GAC		0.592	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		28	132	28	132	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52619794	52619794	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:52619794G>C	ENST00000600228.1	-	4	884	c.623C>G	c.(622-624)aCt>aGt	p.T208S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T208S(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTCTCTGTAGTATGTATCCT	0.393																																						ENST00000600228.1																			1	Substitution - Missense(1)	p.T208S(1)	prostate(1)	breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(622-624)aCt>aGt		zinc finger protein 616							149.0	144.0	146.0					19																	52619794		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619794G>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.623C>G	19.37:g.52619794G>C	ENSP00000471000:p.Thr208Ser					ZNF616_ENST00000330123.5_3'UTR	p.T208S	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	884	-			208					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.623C>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172455	0.21704	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.825	-1.65	0.08291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39886	0.1095	L	0.33245	0.995	0.09310	N	1	B	0.27559	0.181	P	0.46389	0.515	T	0.56189	-0.8020	8	0.44086	T	0.13	.	4.4266	0.11505	0.2097:0.2277:0.5625:0.0	.	208	Q08AN1	ZN616_HUMAN	S	208	.	ENSP00000328722:T208S	T	-	2	0	ZNF616	57311606	0.000000	0.05858	0.000000	0.03702	0.610000	0.37248	0.678000	0.25277	-0.905000	0.03871	0.305000	0.20034	ACT		0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		6	294	6	294	---	---	---	---
ZNF17	7565	broad.mit.edu	37	19	57931923	57931923	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:57931923G>A	ENST00000601808.1	+	3	1276	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.E357K	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E355K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TCACACTGGAGAAAGGCCTTT	0.388																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			1	Substitution - Missense(1)	p.E355K(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1069-1071)Gaa>Aaa		zinc finger protein 17							83.0	87.0	86.0					19																	57931923		2189	4297	6486	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931923G>A	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1063G>A	19.37:g.57931923G>A	ENSP00000471905:p.Glu355Lys					ZNF17_ENST00000601808.1_Missense_Mutation_p.E355K|AC004076.7_ENST00000597410.1_Intron	p.E357K			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1332	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	355					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1069G>A	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848089	0.51164	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.55	-2.86	0.05717	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47875	0.1469	M	0.68593	2.085	0.09310	N	1	D;P	0.69078	0.997;0.902	P;B	0.59012	0.85;0.446	T	0.40098	-0.9581	8	0.62326	D	0.03	.	2.2337	0.04002	0.1271:0.3355:0.3648:0.1726	.	357;355	P17021-2;P17021	.;ZNF17_HUMAN	K	355	.	ENSP00000302455:E355K	E	+	1	0	ZNF17	62623735	0.008000	0.16893	0.000000	0.03702	0.924000	0.55760	1.284000	0.33249	-0.686000	0.05170	0.585000	0.79938	GAA		0.388	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		42	187	42	187	---	---	---	---
STK35	140901	broad.mit.edu	37	20	2083973	2083973	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:2083973C>T	ENST00000381482.3	+	2	1125	c.854C>T	c.(853-855)tCg>tTg	p.S285L	STK35_ENST00000246032.3_Missense_Mutation_p.S152L|STK35_ENST00000400064.3_Missense_Mutation_p.S113L			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S285L(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AACAAGAGCTCGCAGCTTTAC	0.647																																						ENST00000381482.3																			1	Substitution - Missense(1)	p.S285L(1)	prostate(1)	large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(853-855)tCg>tTg		serine/threonine kinase 35							34.0	30.0	31.0					20																	2083973		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2083973C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.854C>T	20.37:g.2083973C>T	ENSP00000370891:p.Ser285Leu					STK35_ENST00000400064.3_Missense_Mutation_p.S113L|STK35_ENST00000246032.3_Missense_Mutation_p.S152L	p.S285L			Q8TDR2	STK35_HUMAN			2	1125	+			285			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.854C>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	C	36	5.672051	0.96754	.	.	ENSG00000125834	ENST00000381482;ENST00000246032;ENST00000400064	T;T;T	0.71817	-0.3;-0.6;-0.31	4.35	4.35	0.52113	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.164451	0.40385	N	0.001105	T	0.72882	0.3516	N	0.25094	0.71	0.45194	D	0.998201	D;D	0.71674	0.998;0.996	D;P	0.64506	0.926;0.906	T	0.76479	-0.2944	10	0.72032	D	0.01	-6.67	15.1936	0.73067	0.0:1.0:0.0:0.0	.	113;285	B4DYV9;Q8TDR2	.;STK35_HUMAN	L	285;152;113	ENSP00000370891:S285L;ENSP00000246032:S152L;ENSP00000382937:S113L	ENSP00000246032:S152L	S	+	2	0	STK35	2031973	0.065000	0.20965	0.918000	0.36340	0.980000	0.70556	1.997000	0.40786	2.702000	0.92279	0.655000	0.94253	TCG		0.647	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		6	63	6	63	---	---	---	---
ZNF341	84905	broad.mit.edu	37	20	32379198	32379198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:32379198G>T	ENST00000375200.1	+	15	2805	c.2440G>T	c.(2440-2442)Gag>Tag	p.E814*	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	814					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E807*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCGGAAACTGAGCTGGTGGT	0.711																																						ENST00000375200.1																			1	Substitution - Nonsense(1)	p.E807*(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(2440-2442)Gag>Tag		zinc finger protein 341							39.0	36.0	37.0					20																	32379198		2202	4299	6501	SO:0001587	stop_gained	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379198G>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2440G>T	20.37:g.32379198G>T	ENSP00000364346:p.Glu814*					RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*|RP4-553F4.6_ENST00000423074.1_RNA	p.E814*	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN			15	2805	+			814					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Nonsense_Mutation	SNP	ENST00000375200.1	37	c.2440G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.592672	0.98378	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	5.28	4.26	0.50523	.	0.170285	0.40640	N	0.001052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-27.0756	15.662	0.77193	0.0:0.1373:0.8627:0.0	.	.	.	.	X	807;814	.	ENSP00000344308:E807X	E	+	1	0	ZNF341	31842859	1.000000	0.71417	0.959000	0.39883	0.012000	0.07955	5.013000	0.64023	2.639000	0.89480	0.491000	0.48974	GAG		0.711	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				7	69	7	69	---	---	---	---
APOL1	8542	broad.mit.edu	37	22	36661373	36661373	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:36661373G>T	ENST00000397278.3	+	6	720	c.491G>T	c.(490-492)gGg>gTg	p.G164V	APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000319136.4_Missense_Mutation_p.G180V|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	164					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.G180V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTTGCAGATGGGGTTCAGAAG	0.522																																						ENST00000319136.4																			1	Substitution - Missense(1)	p.G180V(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(538-540)gGg>gTg		apolipoprotein L, 1							130.0	117.0	122.0					22																	36661373		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661373G>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.491G>T	22.37:g.36661373G>T	ENSP00000380448:p.Gly164Val					APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000397278.3_Missense_Mutation_p.G164V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V	p.G180V	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			7	806	+			164					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.539G>T	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	7.316	0.615920	0.14129	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94;3.94	3.38	-0.181	0.13291	.	0.798338	0.12081	N	0.501317	T	0.05914	0.0154	L	0.56769	1.78	0.09310	N	1	P;P;P	0.37176	0.586;0.586;0.531	B;B;B	0.42738	0.396;0.396;0.275	T	0.32903	-0.9889	10	0.36615	T	0.2	.	6.8382	0.23947	0.761:0.0:0.239:0.0	.	146;164;180	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	V	164;164;146;180;43;164	ENSP00000380448:G164V;ENSP00000411507:G164V;ENSP00000388477:G146V;ENSP00000317674:G180V;ENSP00000216178:G43V;ENSP00000380449:G164V	ENSP00000317674:G180V	G	+	2	0	APOL1	34991319	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.447000	0.21710	-0.311000	0.08754	-2.526000	0.00183	GGG		0.522	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		39	215	39	215	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47432981	47432981	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:47432981C>T	ENST00000337137.4	+	11	1382	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	406	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.H406Y(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGTGCACCGGCACCTGGACCA	0.597																																						ENST00000337137.4																			1	Substitution - Missense(1)	p.H406Y(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(1216-1218)Cac>Tac		TBC1 domain family, member 22A							103.0	83.0	90.0					22																	47432981		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47432981C>T	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1216C>T	22.37:g.47432981C>T	ENSP00000336724:p.His406Tyr					TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y	p.H406Y	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	11	1382	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	406			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1216C>T	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231440	0.79688	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.59	4.59	0.56863	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.71414	0.955;0.973;0.973;0.955	T	0.59830	-0.7380	10	0.39692	T	0.17	-12.7465	16.1379	0.81502	0.0:1.0:0.0:0.0	.	406;328;347;406	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	Y	406;347;328;359	ENSP00000336724:H406Y;ENSP00000384036:H347Y;ENSP00000347932:H328Y;ENSP00000385634:H359Y	ENSP00000336724:H406Y	H	+	1	0	TBC1D22A	45811645	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.940000	0.75917	2.360000	0.80028	0.462000	0.41574	CAC		0.597	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		17	110	17	110	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73046744	73046745	+	lincRNA	DNP	TC	TC	CT			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:73046744_73046745TC>CT	ENST00000604411.1	+	0	34705_34706				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TCTTAAGACTTCTAACTCAAGC	0.5																																						ENST00000604411.1																			0																																																			9383							g.chrX:73046744T>C|g.chrX:73046745C>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2			Exception_encountered	X.37:g.73046744_73046745delinsCT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34705|34706	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.500	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		43|46	70|68	43	68	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148798036	148798036	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:148798036T>A	ENST00000355220.5	+	5	992	c.890T>A	c.(889-891)cTc>cAc	p.L297H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	297	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L297H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCTCAACCTCTCTTATGAT	0.498																																						ENST00000355220.5																			1	Substitution - Missense(1)	p.L297H(1)	prostate(1)	cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(889-891)cTc>cAc		melanoma antigen family A, 11							137.0	125.0	129.0					X																	148798036		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798036T>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.890T>A	X.37:g.148798036T>A	ENSP00000347358:p.Leu297His					MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H	p.L297H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	992	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		297			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.890T>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	10.34	1.322248	0.23994	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.05258	3.47;3.47;3.47	0.762	0.762	0.18454	.	.	.	.	.	T	0.26738	0.0654	M	0.90252	3.1	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.02691	-1.1123	8	0.66056	D	0.02	.	.	.	.	.	268;297	G5E962;P43364	.;MAGAB_HUMAN	H	268;268;297	ENSP00000391496:L268H;ENSP00000328177:L268H;ENSP00000347358:L297H	ENSP00000328177:L268H	L	+	2	0	MAGEA11	148576369	0.052000	0.20516	0.009000	0.14445	0.004000	0.04260	1.702000	0.37836	0.527000	0.28560	0.308000	0.20428	CTC		0.498	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		56	78	56	78	---	---	---	---
TTC4	7268	broad.mit.edu	37	1	55186887	55186893	+	Frame_Shift_Del	DEL	CCTGCCA	CCTGCCA	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:55186887_55186893delCCTGCCA	ENST00000371281.3	+	4	530_536	c.443_449delCCTGCCA	c.(442-450)ccctgccacfs	p.PCH148fs	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	148										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGCTAAAACCCTGCCACCTCAAAGCA	0.357																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(442-450)ccctgccacfs		tetratricopeptide repeat domain 4																																				SO:0001589	frameshift_variant	7268						binding	g.chr1:55186887_55186893delCCTGCCA		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.443_449delCCTGCCA	1.37:g.55186887_55186893delCCTGCCA	ENSP00000360329:p.Pro148fs					TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	p.PCH148fs	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			4	530_536	+			148					Q53Y95|Q5TA96|Q9H3I2	Frame_Shift_Del	DEL	ENST00000371281.3	37	c.443_449delCCTGCCA	CCDS596.1																																																																																				0.357	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		8	85	8	85	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178433459	178433461	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:178433459_178433461delCAG	ENST00000462775.1	+	13	3001_3003	c.2876_2878delCAG	c.(2875-2880)acagca>aca	p.A961del	RASAL2_ENST00000367649.3_In_Frame_Del_p.A1102del|RASAL2_ENST00000448150.3_In_Frame_Del_p.A1091del	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	961					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTAGAGAGGACAGCAGCCTGGGT	0.483																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(3265-3270)acagca>aca		RAS protein activator like 2																																				SO:0001651	inframe_deletion	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178433459_178433461delCAG	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2876_2878delCAG	1.37:g.178433462_178433464delCAG	ENSP00000420558:p.Ala961del					RASAL2_ENST00000367649.3_In_Frame_Del_p.A1102del|RASAL2_ENST00000462775.1_In_Frame_Del_p.A961del	p.A1091del	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			15	4084_4086	+			961					F8W755|O95174|Q2TB22|Q5TFU9	In_Frame_Del	DEL	ENST00000462775.1	37	c.3266_3268delCAG	CCDS1322.1																																																																																				0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		14	103	14	103	---	---	---	---
SDAD1	55153	broad.mit.edu	37	4	76888458	76888458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:76888458delC	ENST00000356260.5	-	12	1135	c.1017delG	c.(1015-1017)ttgfs	p.L339fs	SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs|SDAD1_ENST00000513089.1_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	339					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCTTTGCAAAAAGGGAT	0.418																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1015-1017)ttgfs		SDA1 domain containing 1							59.0	59.0	59.0					4																	76888458		2203	4300	6503	SO:0001589	frameshift_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76888458delC	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1017delG	4.37:g.76888458delC	ENSP00000348596:p.Leu339fs					SDAD1_ENST00000513089.1_Intron|SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs	p.L339fs	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1135	-			339					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Frame_Shift_Del	DEL	ENST00000356260.5	37	c.1017delG	CCDS3573.2																																																																																				0.418	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		15	60	15	60	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128113082	128113086	+	Frame_Shift_Del	DEL	TGCGC	TGCGC	-	rs537643704		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:128113082_128113086delTGCGC	ENST00000495955.1	+	23	3844_3848	c.3554_3558delTGCGC	c.(3553-3558)atgcgcfs	p.MR1185fs	GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.MR1140fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1185					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAAGAAACAATGCGCTGTGTGTGCC	0.361																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3418-3423)atgcgcfs		GTPase activating protein and VPS9 domains 1																																				SO:0001589	frameshift_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128113082_128113086delTGCGC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3554_3558delTGCGC	9.37:g.128113082_128113086delTGCGC	ENSP00000419063:p.Met1185fs					GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.MR1185fs	p.MR1140fs			Q14C86	GAPD1_HUMAN			20	3579_3583	+			1185					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	37	c.3419_3423delTGCGC																																																																																					0.361	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			32	264	32	264	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77407550	77407566	+	Frame_Shift_Del	DEL	CAGCAAGGAAATGACCA	CAGCAAGGAAATGACCA	-	rs377371339		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:77407550_77407566delCAGCAAGGAAATGACCA	ENST00000560626.2	-	7	4648_4664	c.4173_4189delTGGTCATTTCCTTGCTG	c.(4171-4191)tgtggtcatttccttgctgaafs	p.CGHFLAE1391fs	PEAK1_ENST00000312493.4_Frame_Shift_Del_p.CGHFLAE1391fs			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTAGGGACTTCAGCAAGGAAATGACCACAGTCCTGCT	0.479																																						ENST00000560626.2																			0											c.(4171-4191)tgtggtcatttccttgctgaafs		pseudopodium-enriched atypical kinase 1																																				SO:0001589	frameshift_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407550_77407566delCAGCAAGGAAATGACCA		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4173_4189delTGGTCATTTCCTTGCTG	15.37:g.77407550_77407566delCAGCAAGGAAATGACCA	ENSP00000452796:p.Cys1391fs					PEAK1_ENST00000312493.4_Frame_Shift_Del_p.CGHFLAE1391fs	p.CGHFLAE1391fs			Q9H792	PEAK1_HUMAN			7	4648_4664	-			1391			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Frame_Shift_Del	DEL	ENST00000560626.2	37	c.4173_4189delTGGTCATTTCCTTGCTG	CCDS42062.1																																																																																				0.479	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			16	218	16	218	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41424003	41424003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:41424003delA	ENST00000400454.1	-	30	5544	c.5067delT	c.(5065-5067)gctfs	p.A1689fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1689					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAAAGTCAGCATCCGTCA	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5065-5067)gctfs		Down syndrome cell adhesion molecule							89.0	91.0	90.0					21																	41424003		2044	4196	6240	SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41424003delA	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5067delT	21.37:g.41424003delA	ENSP00000383303:p.Ala1689fs						p.A1689fs	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN			30	5544	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1689					O60468	Frame_Shift_Del	DEL	ENST00000400454.1	37	c.5067delT	CCDS42929.1																																																																																				0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		19	168	19	168	---	---	---	---
