#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
PINK1	65018	broad.mit.edu	37	1	20964582	20964582	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:20964582C>A	ENST00000321556.4	+	2	729	c.635C>A	c.(634-636)cCt>cAt	p.P212H		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|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;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGGGGGCCCCTGCCTTCCCC	0.577																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	ENST00000321556.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14						c.(634-636)cCt>cAt		PTEN induced putative kinase 1							35.0	35.0	35.0					1																	20964582		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20964582C>A	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.635C>A	1.37:g.20964582C>A	ENSP00000364204:p.Pro212His						p.P212H	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	729	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	212			Protein kinase.		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.635C>A	CCDS211.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236154	0.95240	.	.	ENSG00000158828	ENST00000321556	T	0.73681	-0.77	5.24	5.24	0.73138	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.495001	0.23032	N	0.052733	T	0.76350	0.3975	L	0.59436	1.845	0.35276	D	0.780885	P	0.43287	0.802	P	0.47206	0.541	T	0.81656	-0.0834	10	0.40728	T	0.16	-5.8274	14.6704	0.68939	0.0:1.0:0.0:0.0	.	212	Q9BXM7	PINK1_HUMAN	H	212	ENSP00000364204:P212H	ENSP00000364204:P212H	P	+	2	0	PINK1	20837169	0.003000	0.15002	0.127000	0.21898	0.893000	0.52053	1.250000	0.32850	2.629000	0.89072	0.555000	0.69702	CCT		0.577	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		4	52	4	52	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67147695	67147695	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:67147695C>A	ENST00000371037.4	+	15	1035	c.958C>A	c.(958-960)Ccg>Acg	p.P320T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P324T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGATACATCCCCGGAACATGT	0.512																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(958-960)Ccg>Acg		SH3-domain GRB2-like (endophilin) interacting protein 1							110.0	115.0	113.0					1																	67147695		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147695C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.958C>A	1.37:g.67147695C>A	ENSP00000360076:p.Pro320Thr					SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P324T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	p.P320T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1035	+			320			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.958C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303660	0.40795	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.02974	4.09;4.09	4.66	4.66	0.58398	.	0.143271	0.53938	D	0.000045	T	0.02047	0.0064	L	0.47716	1.5	0.80722	D	1	B;B	0.31383	0.321;0.075	B;B	0.31614	0.133;0.027	T	0.56269	-0.8007	10	0.35671	T	0.21	-8.7355	18.1064	0.89521	0.0:1.0:0.0:0.0	.	323;320	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	T	324;323;323;320	ENSP00000237247:P324T;ENSP00000360076:P320T	ENSP00000237247:P324T	P	+	1	0	SGIP1	66920283	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.015000	0.40961	2.570000	0.86706	0.455000	0.32223	CCG		0.512	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		8	183	8	183	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	ENST00000326665.5	-	14	2706	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		830	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGGATCTCCCTTTTTTCT	0.572																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2488-2490)Gag>Tag		chromosome 1 open reading frame 173							91.0	86.0	88.0					1																	75038906		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75038906C>A																												ENST00000326665.5:c.2488G>T	1.37:g.75038906C>A	ENSP00000322609:p.Glu830*					C1orf173_ENST00000433746.2_5'UTR	p.E830*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2706	-			830			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.2488G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	39	7.369580	0.98241	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.34	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8504	8.699	0.34314	0.0:0.731:0.1235:0.1455	.	.	.	.	X	830	.	ENSP00000322609:E830X	E	-	1	0	C1orf173	74811494	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.937000	0.28951	0.612000	0.30071	0.561000	0.74099	GAG		0.572	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			13	130	13	130	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85498463	85498463	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:85498463C>A	ENST00000370589.2	-	6	700	c.648G>T	c.(646-648)gtG>gtT	p.V216V	MCOLN3_ENST00000370587.1_Silent_p.V216V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.V160V	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	216					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ACTGAAGCTCCACTGTTAGGA	0.443																																						ENST00000370587.1																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(646-648)gtG>gtT		mucolipin 3							166.0	159.0	161.0					1																	85498463		2203	4300	6503	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85498463C>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.648G>T	1.37:g.85498463C>A						MCOLN3_ENST00000370589.2_Silent_p.V216V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.V160V	p.V216V			Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	7	1024	-			216					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.648G>T	CCDS701.1																																																																																				0.443	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		7	203	7	203	---	---	---	---
PALMD	54873	broad.mit.edu	37	1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	ENST00000263174.4	+	7	1411	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W	PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	346					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488																																						ENST00000263174.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(1036-1038)Agg>Tgg		palmdelphin							60.0	57.0	58.0					1																	100154852		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154852A>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1036A>T	1.37:g.100154852A>T	ENSP00000263174:p.Arg346Trp					PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1411	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	346					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.1036A>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788892	0.31685	.	.	ENSG00000099260	ENST00000263174	T	0.18960	2.18	5.71	5.71	0.89125	.	0.565657	0.19174	N	0.120878	T	0.13628	0.0330	L	0.29908	0.895	0.37249	D	0.906461	P;D	0.55800	0.953;0.973	B;P	0.49528	0.41;0.614	T	0.02581	-1.1138	10	0.87932	D	0	-5.3574	11.9125	0.52747	0.8547:0.1453:0.0:0.0	.	346;266	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	W	346	ENSP00000263174:R346W	ENSP00000263174:R346W	R	+	1	2	PALMD	99927440	0.960000	0.32886	0.895000	0.35142	0.026000	0.11368	2.679000	0.46909	2.168000	0.68352	0.460000	0.39030	AGG		0.488	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		15	27	15	27	---	---	---	---
PLEKHO1	51177	broad.mit.edu	37	1	150131388	150131388	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150131388C>A	ENST00000369124.4	+	6	1178	c.900C>A	c.(898-900)ccC>ccA	p.P300P	PLEKHO1_ENST00000025469.6_Silent_p.P266P|PLEKHO1_ENST00000369126.1_Silent_p.P117P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	300	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTCCCCAACCCGGGGC	0.662																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(898-900)ccC>ccA		pleckstrin homology domain containing, family O member 1							27.0	32.0	31.0					1																	150131388		2202	4298	6500	SO:0001819	synonymous_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131388C>A	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.900C>A	1.37:g.150131388C>A						PLEKHO1_ENST00000025469.6_Silent_p.P266P|PLEKHO1_ENST00000369126.1_Silent_p.P117P	p.P300P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1178	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		300			Interaction with ATM, CKIP, IFP35 and NMI.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	ENST00000369124.4	37	c.900C>A	CCDS945.1																																																																																				0.662	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		5	69	5	69	---	---	---	---
PRPF3	9129	broad.mit.edu	37	1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	6	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(16-18)Agg>Ggg		pre-mRNA processing factor 3							111.0	116.0	114.0					1																	150297416		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150297416A>G	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.16A>G	1.37:g.150297416A>G	ENSP00000315379:p.Arg6Gly					PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G|PRPF3_ENST00000543398.1_5'UTR	p.R6G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	2	181	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		6			PWI.		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.16A>G	CCDS951.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518287	0.64634	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.41400	1.0;1.0	5.29	2.84	0.33178	Splicing factor PWI (3);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	M	0.64997	1.995	0.80722	D	1	P;D;D	0.69078	0.9;0.997;0.991	B;P;P	0.60789	0.227;0.879;0.831	T	0.50725	-0.8794	10	0.87932	D	0	-14.6106	12.918	0.58216	0.6004:0.3996:0.0:0.0	.	6;6;6	E7EVD1;B2R791;O43395	.;.;PRPF3_HUMAN	G	6	ENSP00000315379:R6G;ENSP00000387844:R6G	ENSP00000315379:R6G	R	+	1	2	PRPF3	148564040	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.307000	0.33516	0.354000	0.24105	0.533000	0.62120	AGG		0.423	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		7	128	7	128	---	---	---	---
RAB13	5872	broad.mit.edu	37	1	153954901	153954901	+	Missense_Mutation	SNP	C	C	A	rs371012129		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:153954901C>A	ENST00000368575.3	-	7	615	c.500G>T	c.(499-501)cGg>cTg	p.R167L	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	167					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R167L(2)		breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGATGTCCCGGGCCAGGGA	0.507																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3																			2	Substitution - Missense(2)	p.R167L(2)	lung(2)	breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11						c.(499-501)cGg>cTg		RAB13, member RAS oncogene family							158.0	168.0	165.0					1																	153954901		2203	4300	6503	SO:0001583	missense	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153954901C>A	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.500G>T	1.37:g.153954901C>A	ENSP00000357564:p.Arg167Leu					RAB13_ENST00000462680.1_5'UTR	p.R167L	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	615	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		167					A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	ENST00000368575.3	37	c.500G>T	CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458711	0.63401	.	.	ENSG00000143545	ENST00000368575	T	0.79033	-1.23	4.6	4.6	0.57074	.	0.135173	0.47093	D	0.000252	T	0.58090	0.2098	L	0.40543	1.245	0.54753	D	0.999987	B	0.16166	0.016	B	0.17979	0.02	T	0.60762	-0.7199	10	0.44086	T	0.13	.	12.7893	0.57523	0.0:1.0:0.0:0.0	.	167	P51153	RAB13_HUMAN	L	167	ENSP00000357564:R167L	ENSP00000357564:R167L	R	-	2	0	RAB13	152221525	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.739000	0.55075	2.387000	0.81309	0.655000	0.94253	CGG		0.507	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870		6	216	6	216	---	---	---	---
ANGPTL1	9068	broad.mit.edu	37	1	178834872	178834872	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:178834872G>T	ENST00000234816.2	-	3	487	c.40C>A	c.(40-42)Cta>Ata	p.L14I	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L14I|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	14					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCCACTAGTAGGAAGAATAGC	0.378																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(40-42)Cta>Ata		angiopoietin-like 1							64.0	64.0	64.0					1																	178834872		2202	4298	6500	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834872G>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.40C>A	1.37:g.178834872G>T	ENSP00000234816:p.Leu14Ile					RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L14I	p.L14I	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	487	-			14					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.40C>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	G	7.529	0.658328	0.14645	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564;ENST00000444255	T;T	0.57436	0.4;0.4	5.89	2.55	0.30701	.	0.673920	0.14957	N	0.288599	T	0.44932	0.1317	L	0.59436	1.845	0.26424	N	0.976046	B	0.26902	0.163	B	0.22386	0.039	T	0.39354	-0.9618	10	0.48119	T	0.1	.	7.4212	0.27073	0.2084:0.0:0.6656:0.126	.	14	O95841	ANGL1_HUMAN	I	14	ENSP00000234816:L14I;ENSP00000356601:L14I	ENSP00000234816:L14I	L	-	1	2	ANGPTL1	177101495	1.000000	0.71417	0.759000	0.31340	0.062000	0.15995	1.323000	0.33701	0.826000	0.34661	-0.187000	0.12897	CTA		0.378	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		5	64	5	64	---	---	---	---
TNNI1	7135	broad.mit.edu	37	1	201382239	201382239	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:201382239C>A	ENST00000361379.4	-	6	292	c.200G>T	c.(199-201)cGg>cTg	p.R67L	TNNI1_ENST00000336092.4_Missense_Mutation_p.R67L|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67L|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	67			R -> W (in dbSNP:rs2296695).		muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)	p.R67L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GTGCAGCTCCCGGCACAGGTC	0.592																																						ENST00000361379.4																			2	Substitution - Missense(2)	p.R67L(2)	lung(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(199-201)cGg>cTg		troponin I type 1 (skeletal, slow)							203.0	191.0	195.0					1																	201382239		2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201382239C>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.200G>T	1.37:g.201382239C>A	ENSP00000354488:p.Arg67Leu					TNNI1_ENST00000336092.4_Missense_Mutation_p.R67L|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67L|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67L	p.R67L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			6	292	-			67		R -> W (in dbSNP:rs2296695).			A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.200G>T	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405415	0.62288	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.11	5.11	0.69529	.	0.133611	0.48767	D	0.000169	D	0.94644	0.8273	M	0.84082	2.675	0.80722	D	1	P	0.40266	0.71	B	0.37422	0.249	D	0.95566	0.8634	10	0.87932	D	0	-17.0586	18.5306	0.90990	0.0:1.0:0.0:0.0	.	67	P19237	TNNI1_HUMAN	L	67;67;67;67;67;67;46;67	ENSP00000354488:R67L;ENSP00000337022:R67L;ENSP00000451307:R67L;ENSP00000356281:R67L;ENSP00000451660:R46L;ENSP00000451776:R67L	ENSP00000337022:R67L	R	-	2	0	TNNI1	199648862	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.066000	0.41452	2.385000	0.81259	0.561000	0.74099	CGG		0.592	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		7	264	7	264	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27165567	27165567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:27165567C>A	ENST00000288699.6	+	11	1547	c.1389C>A	c.(1387-1389)ccC>ccA	p.P463P	DPYSL5_ENST00000401478.1_Silent_p.P463P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	463					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCTGTCCCCTGAGGTCCT	0.647											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1387-1389)ccC>ccA		dihydropyrimidinase-like 5							62.0	59.0	60.0					2																	27165567		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27165567C>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1389C>A	2.37:g.27165567C>A			OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_ENST00000401478.1_Silent_p.P463P	p.P463P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			11	1547	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		463					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.1389C>A	CCDS1730.1																																																																																				0.647	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		5	82	5	82	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74481805	74481805	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:74481805C>A	ENST00000377634.4	-	14	1453	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G352W|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G288W|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G288W|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000394019.2_Missense_Mutation_p.G352W					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.G352W(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTGCTCTCCCAGAAGGTCCC	0.428																																						ENST00000394019.2																			2	Substitution - Missense(2)	p.G352W(2)	lung(2)	breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1054-1056)Ggg>Tgg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							175.0	175.0	175.0					2																	74481805		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74481805C>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1054G>T	2.37:g.74481805C>A	ENSP00000366861:p.Gly352Trp					SLC4A5_ENST00000358683.4_Missense_Mutation_p.G288W|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G352W|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G288W	p.G352W	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			14	1451	-			352						Missense_Mutation	SNP	ENST00000377634.4	37	c.1054G>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591509	0.86953	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.35	5.35	0.76521	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92273	0.7549	M	0.93939	3.475	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.982;1.0;0.999;1.0;0.999	D	0.93765	0.7070	10	0.87932	D	0	.	16.6023	0.84819	0.0:1.0:0.0:0.0	.	352;352;288;352;352	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	W	352;352;352;288;352;288;352;352;352;352	ENSP00000377587:G352W;ENSP00000251768:G352W;ENSP00000352461:G288W;ENSP00000395804:G352W;ENSP00000351513:G288W;ENSP00000350475:G352W;ENSP00000366859:G352W;ENSP00000366861:G352W;ENSP00000405678:G352W	ENSP00000251768:G352W	G	-	1	0	SLC4A5	74335313	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.651000	0.83577	2.780000	0.95670	0.655000	0.94253	GGG		0.428	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			7	248	7	248	---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					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)			large_intestine(4)|lung(6)|urinary_tract(1)	11						AAGGACTTCCCACACTCATTA	0.443																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(628-630)Ggg>Tgg		zinc finger protein 514							121.0	128.0	126.0					2																	95815602		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815602C>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.628G>T	2.37:g.95815602C>A	ENSP00000295208:p.Gly210Trp					ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN			5	1090	-			210					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.628G>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890939	0.72524	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.36520	1.25;1.25	3.71	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65217	0.2670	M	0.90309	3.105	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73770	-0.3878	9	0.72032	D	0.01	.	13.3589	0.60644	0.0:1.0:0.0:0.0	.	210;29	Q96K75;Q658L7	ZN514_HUMAN;.	W	210	ENSP00000295208:G210W;ENSP00000405509:G210W	ENSP00000295208:G210W	G	-	1	0	ZNF514	95179329	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.006000	0.57083	2.065000	0.61736	0.655000	0.94253	GGG		0.443	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		7	162	7	162	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976433	131976433	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:131976433C>A	ENST00000356920.5	+	1	552	c.458C>A	c.(457-459)cCc>cAc	p.P153H	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P153H|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	153					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGTAAAGTCCCCAGAAAGGAT	0.577																																						ENST00000356920.5																			0											c.(457-459)cCc>cAc		POTE ankyrin domain family, member E							77.0	83.0	81.0					2																	131976433		2202	4296	6498	SO:0001583	missense	445582						ATP binding	g.chr2:131976433C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.458C>A	2.37:g.131976433C>A	ENSP00000439189:p.Pro153His					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P153H|PLEKHB2_ENST00000404460.1_Intron	p.P153H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	552	+			153					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.458C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.419794	0.25552	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.52983	0.64;0.64	1.05	1.05	0.20165	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.50786	0.1636	L	0.42581	1.335	0.09310	N	1	D	0.59357	0.985	P	0.59703	0.862	T	0.33777	-0.9855	9	0.87932	D	0	.	5.4993	0.16819	0.0:1.0:0.0:0.0	.	153	Q6S8J3	POTEE_HUMAN	H	153	ENSP00000439189:P153H;ENSP00000443049:P153H	ENSP00000439189:P153H	P	+	2	0	AC131180.1	131692903	0.000000	0.05858	0.002000	0.10522	0.564000	0.35744	0.298000	0.19120	0.878000	0.35920	0.162000	0.16502	CCC		0.577	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	153	6	153	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413531	179413531	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179413531G>T	ENST00000591111.1	-	289	88123	c.87899C>A	c.(87898-87900)gCc>gAc	p.A29300D	TTN_ENST00000342175.6_Missense_Mutation_p.A22068D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21876D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30941D|TTN_ENST00000342992.6_Missense_Mutation_p.A28373D|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22001D			Q8WZ42	TITIN_HUMAN	titin	29300	Ig-like 134.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGAATACTGGCCCCAGCTCT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92821-92823)gCc>gAc		titin							126.0	120.0	122.0					2																	179413531		1962	4145	6107	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413531G>T	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.87899C>A	2.37:g.179413531G>T	ENSP00000465570:p.Ala29300Asp					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29300D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28373D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22001D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22068D|TTN_ENST00000460472.2_Missense_Mutation_p.A21876D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.A30941D	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)		339	93046	-			29300			Fibronectin type-III 125.		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.92822C>A		.	.	.	.	.	.	.	.	.	.	G	14.59	2.581228	0.46006	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.25	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28896	0.0717	N	0.15975	0.35	0.37448	D	0.914695	B;B;P;B	0.38335	0.317;0.317;0.627;0.317	B;B;B;B	0.42112	0.376;0.376;0.376;0.376	T	0.39603	-0.9606	9	0.87932	D	0	.	14.5713	0.68213	0.0719:0.0:0.9281:0.0	.	21876;22001;22068;29300	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	28373;21876;22068;22001;21873	ENSP00000343764:A28373D;ENSP00000434586:A21876D;ENSP00000340554:A22068D;ENSP00000352154:A22001D	ENSP00000340554:A22068D	A	-	2	0	TTN	179121777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.806000	0.62569	1.314000	0.45095	0.563000	0.77884	GCC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	69	4	69	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179647700	179647700	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179647700C>A	ENST00000591111.1	-	18	3157	c.2933G>T	c.(2932-2934)aGg>aTg	p.R978M	TTN_ENST00000342175.6_Missense_Mutation_p.R932M|TTN_ENST00000360870.5_Missense_Mutation_p.R978M|TTN_ENST00000460472.2_Missense_Mutation_p.R932M|TTN_ENST00000589042.1_Missense_Mutation_p.R978M|TTN_ENST00000342992.6_Missense_Mutation_p.R978M|TTN_ENST00000359218.5_Missense_Mutation_p.R932M			Q8WZ42	TITIN_HUMAN	titin	32531	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGTCTTCCCTGTACCATGT	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2932-2934)aGg>aTg		titin							89.0	91.0	90.0					2																	179647700		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647700C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2933G>T	2.37:g.179647700C>A	ENSP00000465570:p.Arg978Met					TTN_ENST00000360870.5_Missense_Mutation_p.R978M|TTN_ENST00000591111.1_Missense_Mutation_p.R978M|TTN_ENST00000342992.6_Missense_Mutation_p.R978M|TTN_ENST00000359218.5_Missense_Mutation_p.R932M|TTN_ENST00000342175.6_Missense_Mutation_p.R932M|TTN_ENST00000460472.2_Missense_Mutation_p.R932M	p.R978M	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)		18	3157	-			978			Ig-like 3.		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.2933G>T		.	.	.	.	.	.	.	.	.	.	C	17.41	3.381608	0.61845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86682	0.5991	M	0.83012	2.62	0.38974	D	0.958816	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.87462	0.2408	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	932;932;932;978;978	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	978;932;932;932;932;978	ENSP00000343764:R978M;ENSP00000434586:R932M;ENSP00000340554:R932M;ENSP00000352154:R932M;ENSP00000354117:R978M	ENSP00000340554:R932M	R	-	2	0	TTN	179355945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	AGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	82	5	82	---	---	---	---
NABP1	64859	broad.mit.edu	37	2	192549021	192549021	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:192549021G>T	ENST00000425611.2	+	5	527	c.444G>T	c.(442-444)gtG>gtT	p.V148V	NABP1_ENST00000410026.2_Splice_Site_p.V68V|NABP1_ENST00000409510.1_Splice_Site_p.V68V	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	148					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										TTGGACCAGTGGGTAAGATTT	0.333																																						ENST00000410026.2																			0											c.(202-204)gtG>gtT		nucleic acid binding protein 1							159.0	170.0	166.0					2																	192549021		2203	4300	6503	SO:0001630	splice_region_variant	64859							g.chr2:192549021G>T	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.445+1G>T	2.37:g.192549021G>T						NABP1_ENST00000409510.1_Splice_Site_p.V68V|NABP1_ENST00000425611.2_Splice_Site_p.V148V	p.V68V	NM_001254736.1	NP_001241665.1					5	459	+								Q658Y8|Q9H5X6	Splice_Site	SNP	ENST00000425611.2	37	c.204G>T	CCDS33352.1																																																																																				0.333	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837	Silent	6	100	6	100	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216230308	216230308	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:216230308C>A	ENST00000359671.1	-	42	7056	c.6791G>T	c.(6790-6792)tGg>tTg	p.W2264L	FN1_ENST00000354785.4_Missense_Mutation_p.W2355L|FN1_ENST00000323926.6_Missense_Mutation_p.W2324L|FN1_ENST00000336916.4_Missense_Mutation_p.W2233L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000346544.3_Missense_Mutation_p.W2089L|FN1_ENST00000345488.5_Missense_Mutation_p.W2062L|FN1_ENST00000446046.1_Missense_Mutation_p.W2208L|FN1_ENST00000421182.1_Missense_Mutation_p.W2118L|FN1_ENST00000443816.1_Missense_Mutation_p.W2143L|FN1_ENST00000432072.2_Missense_Mutation_p.W2145L|FN1_ENST00000357867.4_Missense_Mutation_p.W2054L|FN1_ENST00000356005.4_Missense_Mutation_p.W2174L			P02751	FINC_HUMAN	fibronectin 1	2264	Fibrin-binding 2.|Fibronectin type-I 11. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGACGGTCCCACTTCTCTCC	0.458																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(7063-7065)tGg>tTg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						222.0	188.0	199.0					2																	216230308		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216230308C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6791G>T	2.37:g.216230308C>A	ENSP00000352696:p.Trp2264Leu					FN1_ENST00000345488.5_Missense_Mutation_p.W2062L|FN1_ENST00000357867.4_Missense_Mutation_p.W2054L|FN1_ENST00000446046.1_Missense_Mutation_p.W2208L|FN1_ENST00000443816.1_Missense_Mutation_p.W2143L|FN1_ENST00000323926.6_Missense_Mutation_p.W2324L|FN1_ENST00000356005.4_Missense_Mutation_p.W2174L|FN1_ENST00000432072.2_Missense_Mutation_p.W2145L|FN1_ENST00000336916.4_Missense_Mutation_p.W2233L|FN1_ENST00000359671.1_Missense_Mutation_p.W2264L|FN1_ENST00000346544.3_Missense_Mutation_p.W2089L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.W2118L	p.W2355L			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	43	7433	-		Renal(323;0.127)	2264					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.7064G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.288345	0.95517	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	6.02	6.02	0.97574	Fibronectin, type I (4);Complement control module (1);	0.000000	0.64402	D	0.000003	D	0.86867	0.6036	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999;1.0;0.999;0.998;0.998;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.988;0.998;0.999;0.999;0.999;0.999;0.992;0.999;0.998;0.999	D	0.85046	0.0926	10	0.45353	T	0.12	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	2145;2324;2054;2174;2208;2233;2265;2118;2143;2355;2264	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	L	2118;2324;2233;2054;2355;2265;2264;2089;2062;2208;2143;2145;2174;981	ENSP00000394423:W2118L;ENSP00000323534:W2324L;ENSP00000338200:W2233L;ENSP00000350534:W2054L;ENSP00000346839:W2355L;ENSP00000352696:W2264L;ENSP00000265312:W2089L;ENSP00000273049:W2062L;ENSP00000410422:W2208L;ENSP00000415018:W2143L;ENSP00000399538:W2145L;ENSP00000348285:W2174L;ENSP00000416139:W981L	ENSP00000265313:W2265L	W	-	2	0	FN1	215938553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	TGG		0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	112	6	112	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	401998	401998	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:401998C>A	ENST00000256509.2	+	12	1839	c.1197C>A	c.(1195-1197)ccC>ccA	p.P399P	CHL1_ENST00000397491.2_Silent_p.P383P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.P399P(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCTTCCCCAGGGAAATCA	0.373																																						ENST00000256509.2																			1	Substitution - coding silent(1)	p.P399P(1)	endometrium(1)	NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1195-1197)ccC>ccA		cell adhesion molecule L1-like							165.0	158.0	160.0					3																	401998		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:401998C>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1197C>A	3.37:g.401998C>A						CHL1_ENST00000397491.2_Silent_p.P383P	p.P399P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	12	1839	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	383			Ig-like C2-type 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.1197C>A	CCDS2556.1																																																																																				0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		6	117	6	117	---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794680	8794680	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:8794680G>T	ENST00000316793.3	-	4	1777	c.1153C>A	c.(1153-1155)Cag>Aag	p.Q385K	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	385					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GTGGATGGCTGGGAGCAGCTC	0.622																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(1153-1155)Cag>Aag		oxytocin receptor	Carbetocin(DB01282)						36.0	31.0	33.0					3																	8794680		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794680G>T		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.1153C>A	3.37:g.8794680G>T	ENSP00000324270:p.Gln385Lys					CAV3_ENST00000472766.1_Intron	p.Q385K	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1777	-			385					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.1153C>A	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680221	0.68042	.	.	ENSG00000180914	ENST00000316793	T	0.59906	0.23	4.85	4.85	0.62838	.	0.250926	0.34507	N	0.003913	T	0.70307	0.3209	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.65899	-0.6056	10	0.09590	T	0.72	-24.9252	15.5347	0.75993	0.0:0.0:1.0:0.0	.	385	P30559	OXYR_HUMAN	K	385	ENSP00000324270:Q385K	ENSP00000324270:Q385K	Q	-	1	0	OXTR	8769680	1.000000	0.71417	0.994000	0.49952	0.715000	0.41141	7.624000	0.83124	2.514000	0.84764	0.655000	0.94253	CAG		0.622	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			4	42	4	42	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31703609	31703609	+	Splice_Site	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:31703609C>A	ENST00000396556.2	-	12	2373		c.e12-1		OSBPL10_ENST00000438237.2_Splice_Site	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10						lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AGCCATCGCCCTGCAAGAGAA	0.488																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e12-1		oxysterol binding protein-like 10							117.0	111.0	113.0					3																	31703609		2203	4300	6503	SO:0001630	splice_region_variant	114884				lipid transport		lipid binding	g.chr3:31703609C>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.2251-1G>T	3.37:g.31703609C>A						OSBPL10_ENST00000438237.2_Splice_Site		NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	12	2373	-								B4E212|Q9BTU5	Splice_Site	SNP	ENST00000396556.2	37		CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807084	0.70797	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4867	0.95032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL10	31678613	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.234000	0.78134	2.691000	0.91804	0.655000	0.94253	.		0.488	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		Intron	7	89	7	89	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTGAGCTGGCCCCGGGACA	0.458																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(1639-1641)Gcc>Acc		deleted in lung and esophageal cancer 1							142.0	141.0	141.0					3																	38129853		1958	4135	6093	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38129853G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1639G>A	3.37:g.38129853G>A	ENSP00000308597:p.Ala547Thr					DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T	p.A547T			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	10	1660	+			547						Missense_Mutation	SNP	ENST00000308059.6	37	c.1639G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555465	0.27739	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05258	3.48;3.47;3.7	4.84	3.88	0.44766	.	0.672334	0.15620	N	0.252955	T	0.08088	0.0202	M	0.64997	1.995	0.24475	N	0.994377	P;P;P	0.43094	0.799;0.692;0.799	B;B;B	0.42522	0.23;0.39;0.23	T	0.15925	-1.0420	10	0.16420	T	0.52	-19.1126	6.9558	0.24570	0.1003:0.0:0.722:0.1777	.	547;547;547	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	547	ENSP00000308597:A547T;ENSP00000315914:A547T;ENSP00000410427:A547T	ENSP00000308597:A547T	A	+	1	0	DLEC1	38104857	0.845000	0.29573	1.000000	0.80357	0.652000	0.38707	1.185000	0.32065	2.498000	0.84270	0.591000	0.81541	GCC		0.458	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		5	138	5	138	---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50150853	50150853	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:50150853G>T	ENST00000347869.3	+	18	1668	c.1493G>T	c.(1492-1494)tGg>tTg	p.W498L	RP11-493K19.3_ENST00000437204.1_RNA|RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	498	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTTACTGGGATGGGGAA	0.448																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(1492-1494)tGg>tTg		RNA binding motif protein 5							70.0	81.0	77.0					3																	50150853		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50150853G>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1493G>T	3.37:g.50150853G>T	ENSP00000343054:p.Trp498Leu					RBM5_ENST00000441812.2_3'UTR	p.W498L	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	18	1668	+			498			Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.1493G>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328964	0.95733	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.19806	2.12	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.982;0.998	T	0.57075	-0.7873	10	0.52906	T	0.07	-6.4387	19.5353	0.95251	0.0:0.0:1.0:0.0	.	188;498	Q59HE6;P52756	.;RBM5_HUMAN	L	498;497;188	ENSP00000343054:W498L	ENSP00000343054:W498L	W	+	2	0	RBM5	50125857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.608000	0.88229	0.563000	0.77884	TGG		0.448	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		5	74	5	74	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78656036	78656036	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:78656036C>A	ENST00000464233.1	-	29	4704	c.4591G>T	c.(4591-4593)Ggg>Tgg	p.G1531W	ROBO1_ENST00000467549.1_Missense_Mutation_p.G1431W|ROBO1_ENST00000436010.2_Missense_Mutation_p.G1492W|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1486W|ROBO1_ENST00000466906.1_5'UTR	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1531					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTCTCTCCCCTTGTAACTG	0.483																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(4474-4476)Ggg>Tgg		roundabout, axon guidance receptor, homolog 1 (Drosophila)							492.0	468.0	476.0					3																	78656036		2049	4211	6260	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78656036C>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4591G>T	3.37:g.78656036C>A	ENSP00000420321:p.Gly1531Trp					ROBO1_ENST00000495273.1_Missense_Mutation_p.G1486W|ROBO1_ENST00000464233.1_Missense_Mutation_p.G1531W|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1431W	p.G1492W			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	27	5471	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1531					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4474G>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431318	0.62844	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60797	0.21;0.18;0.19;0.16	5.38	4.51	0.55191	.	0.159963	0.56097	D	0.000034	T	0.61400	0.2344	L	0.27053	0.805	0.58432	D	0.999993	D;D;D;D;D	0.76494	0.997;0.979;0.997;0.97;0.999	D;P;P;P;D	0.65684	0.909;0.604;0.903;0.599;0.937	T	0.59852	-0.7376	9	.	.	.	.	14.131	0.65253	0.0:0.9278:0.0:0.0722	.	1495;1531;1486;1431;1492	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	W	1492;1486;1531;1486;1431;1535	ENSP00000406043:G1492W;ENSP00000420321:G1531W;ENSP00000420637:G1486W;ENSP00000417992:G1431W	.	G	-	1	0	ROBO1	78738726	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.612000	0.67681	1.404000	0.46819	0.491000	0.48974	GGG		0.483	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		12	522	12	522	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132165395	132165395	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	ENST00000260818.6	+	3	392		c.e3+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13						osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.e3+1		DnaJ (Hsp40) homolog, subfamily C, member 13							73.0	72.0	72.0					3																	132165395		2202	4296	6498	SO:0001630	splice_region_variant	23317						heat shock protein binding	g.chr3:132165395G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.144+1G>T	3.37:g.132165395G>T						DNAJC13_ENST00000486798.1_Splice_Site		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			3	392	+								Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Splice_Site	SNP	ENST00000260818.6	37		CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617414	0.87359	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1961	0.93690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC13	133648085	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.543000	0.85770	0.467000	0.42956	.		0.368	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	Intron	17	28	17	28	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155241768	155241768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:155241768C>A	ENST00000340059.7	-	10	1351	c.1352G>T	c.(1351-1353)gGg>gTg	p.G451V	PLCH1_ENST00000460012.1_Missense_Mutation_p.G433V|PLCH1_ENST00000414191.1_Missense_Mutation_p.G433V|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451V|PLCH1_ENST00000334686.6_Missense_Mutation_p.G433V|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451V	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	451					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCATCATCCCCAAGGTGATA	0.413																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1297-1299)gGg>gTg		phospholipase C, eta 1							234.0	216.0	222.0					3																	155241768		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155241768C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1352G>T	3.37:g.155241768C>A	ENSP00000345988:p.Gly451Val					PLCH1_ENST00000414191.1_Missense_Mutation_p.G433V|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451V|PLCH1_ENST00000334686.6_Missense_Mutation_p.G433V|PLCH1_ENST00000340059.7_Missense_Mutation_p.G451V|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451V	p.G433V			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1655	-			451			PI-PLC X-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1298G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304849	0.81247	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.48	5.48	0.80851	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.128409	0.52532	D	0.000073	T	0.60741	0.2292	L	0.57536	1.79	0.80722	D	1	D;P;P	0.54772	0.968;0.945;0.534	P;P;B	0.59221	0.854;0.719;0.211	T	0.59878	-0.7371	10	0.46703	T	0.11	.	14.9046	0.70709	0.0:0.8571:0.1428:0.0	.	433;451;451	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	V	451;433;451;451;433;433	ENSP00000419100:G451V;ENSP00000417502:G433V;ENSP00000402759:G451V;ENSP00000345988:G451V;ENSP00000335469:G433V;ENSP00000412977:G433V	ENSP00000335469:G433V	G	-	2	0	PLCH1	156724462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.618000	0.54188	2.563000	0.86464	0.563000	0.77884	GGG		0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		7	203	7	203	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195491914	195491914	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:195491914C>A	ENST00000346145.4	-	9	1209	c.1170G>T	c.(1168-1170)tgG>tgT	p.W390C	MUC4_ENST00000463781.3_Missense_Mutation_p.W4626C|MUC4_ENST00000475231.1_Missense_Mutation_p.W4574C|MUC4_ENST00000349607.4_Missense_Mutation_p.W339C	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1383					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAACTCTCCCCAGGGCCCGT	0.637																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(13876-13878)tgG>tgT		mucin 4, cell surface associated							59.0	58.0	58.0					3																	195491914		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195491914C>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1170G>T	3.37:g.195491914C>A	ENSP00000304207:p.Trp390Cys					MUC4_ENST00000349607.4_Missense_Mutation_p.W339C|MUC4_ENST00000346145.4_Missense_Mutation_p.W390C|MUC4_ENST00000475231.1_Missense_Mutation_p.W4574C	p.W4626C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	10	14337	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1383					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.13878G>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099466	0.37048	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	T;T;T;T	0.39406	1.08;1.44;1.41;1.43	4.42	4.42	0.53409	AMOP (2);	0.298816	0.23664	N	0.045800	T	0.61185	0.2327	M	0.65975	2.015	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.79108	0.99;0.986;0.927;0.951;0.992;0.992;0.963	T	0.59994	-0.7349	10	0.39692	T	0.17	-10.0157	14.9334	0.70935	0.0:1.0:0.0:0.0	.	4498;1383;339;390;4626;4574;1331	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	C	339;390;4626;4574	ENSP00000338109:W339C;ENSP00000304207:W390C;ENSP00000417498:W4626C;ENSP00000420243:W4574C	ENSP00000304207:W390C	W	-	3	0	MUC4	196977585	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	2.016000	0.40971	2.452000	0.82932	0.558000	0.71614	TGG		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		5	55	5	55	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5806552	5806552	+	Missense_Mutation	SNP	C	C	A	rs561852174		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:5806552C>A	ENST00000264956.6	+	17	2729	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	EVC_ENST00000382674.2_Missense_Mutation_p.Q849K	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	849					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGAGACCTCCCAGGCGGTCCA	0.567																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2545-2547)Cag>Aag		Ellis van Creveld syndrome							85.0	83.0	84.0					4																	5806552		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5806552C>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2545C>A	4.37:g.5806552C>A	ENSP00000264956:p.Gln849Lys					EVC_ENST00000264956.6_Missense_Mutation_p.Q849K	p.Q849K			P57679	EVC_HUMAN			17	2729	+		Myeloproliferative disorder(84;0.117)	849						Missense_Mutation	SNP	ENST00000264956.6	37	c.2545C>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	7.819	0.717290	0.15372	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.52295	0.67;0.67	5.01	-2.22	0.06952	.	1.966720	0.02312	N	0.072199	T	0.31009	0.0783	N	0.22421	0.69	0.18873	N	0.999987	B	0.21606	0.058	B	0.19148	0.024	T	0.14643	-1.0465	10	0.10111	T	0.7	.	8.5373	0.33371	0.3555:0.3239:0.3206:0.0	.	849	P57679	EVC_HUMAN	K	849	ENSP00000264956:Q849K;ENSP00000372120:Q849K	ENSP00000264956:Q849K	Q	+	1	0	EVC	5857453	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.325000	0.07976	-0.324000	0.08589	0.655000	0.94253	CAG		0.567	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			5	86	5	86	---	---	---	---
FBXL5	26234	broad.mit.edu	37	4	15640193	15640193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:15640193C>A	ENST00000341285.3	-	4	645	c.521G>T	c.(520-522)tGg>tTg	p.W174L	FBXL5_ENST00000412094.2_Missense_Mutation_p.W157L|FBXL5_ENST00000382358.4_Missense_Mutation_p.W48L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	174					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCATGATTCCATAGGCTAAG	0.338																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(520-522)tGg>tTg		F-box and leucine-rich repeat protein 5							83.0	76.0	78.0					4																	15640193		2202	4300	6502	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15640193C>A	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.521G>T	4.37:g.15640193C>A	ENSP00000344866:p.Trp174Leu					FBXL5_ENST00000382358.4_Missense_Mutation_p.W48L|FBXL5_ENST00000412094.2_Missense_Mutation_p.W157L	p.W174L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			4	645	-			174					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.521G>T	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.275797|5.275797	0.95459|0.95459	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358;ENST00000512066;ENST00000503196;ENST00000509314	.|T;T;T	.|0.35236	.|1.39;1.39;1.32	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52597|0.52597	0.1744|0.1744	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.80764	.|0.994;0.986	T|T	0.51888|0.51888	-0.8648|-0.8648	5|10	.|0.66056	.|D	.|0.02	-7.738|-7.738	20.0371|20.0371	0.97565|0.97565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|157;174	.|Q9UKA1-2;Q9UKA1	.|.;FBXL5_HUMAN	I|L	94|174;157;48;136;119;119	.|ENSP00000344866:W174L;ENSP00000408679:W157L;ENSP00000371795:W48L	.|ENSP00000344866:W174L	M|W	-|-	3|2	0|0	FBXL5|FBXL5	15249291|15249291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.481000|7.481000	0.81124|0.81124	2.736000|2.736000	0.93811|0.93811	0.650000|0.650000	0.86243|0.86243	ATG|TGG		0.338	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			4	49	4	49	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20255579	20255579	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R|SLIT2_ENST00000273739.5_Silent_p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	47	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCGCTGCGCAGCGTGCCCA	0.667																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(139-141)cgC>cgA		slit homolog 2 (Drosophila)							96.0	81.0	86.0					4																	20255579		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255579C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.141C>A	4.37:g.20255579C>A						SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			1	393	+			47			LRRNT.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.141C>A	CCDS3426.1																																																																																				0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			8	129	8	129	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55979609	55979609	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:55979609G>T	ENST00000263923.4	-	7	1133	c.838C>A	c.(838-840)Cag>Aag	p.Q280K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	280	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGACTGGGTTTTTAGG	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(838-840)Cag>Aag		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						124.0	121.0	122.0					4																	55979609		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55979609G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.838C>A	4.37:g.55979609G>T	ENSP00000263923:p.Gln280Lys	TSP Lung(20;0.16)					p.Q280K	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1133	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		280			Ig-like C2-type 3.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.838C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	6.486	0.457803	0.12342	.	.	ENSG00000128052	ENST00000263923	T	0.27402	1.67	5.47	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.955087	0.08700	N	0.906666	T	0.11239	0.0274	N	0.04959	-0.14	0.09310	N	1	B;B	0.24317	0.101;0.001	B;B	0.14023	0.01;0.005	T	0.32851	-0.9891	10	0.02654	T	1	.	3.7588	0.08596	0.1435:0.1245:0.5887:0.1434	.	280;280	P35968-2;P35968	.;VGFR2_HUMAN	K	280	ENSP00000263923:Q280K	ENSP00000263923:Q280K	Q	-	1	0	KDR	55674366	0.032000	0.19561	0.000000	0.03702	0.507000	0.33981	1.268000	0.33062	0.273000	0.22049	0.563000	0.77884	CAG		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	78	5	78	---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	ENST00000307142.4	+	5	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3322-3324)tAc>tGc		synaptopodin 2							90.0	89.0	90.0					4																	119978626		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978626A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3323A>G	4.37:g.119978626A>G	ENSP00000306015:p.Tyr1108Cys					SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	p.Y1108C	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3519	+			765					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3323A>G	CCDS34054.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.74|18.74|18.74	3.688038|3.688038|3.688038	0.68271|0.68271|0.68271	.|.|.	.|.|.	ENSG00000172403|ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000448416|ENST00000307142	.|T|T	.|0.63580|0.07908	.|-0.05|3.15	5.7|5.7|5.7	-2.08|-2.08|-2.08	0.07254|0.07254|0.07254	.|.|.	.|.|0.384743	.|.|0.19214	.|.|N	.|.|0.119857	T|T|T	0.04318|0.04318|0.04318	0.0119|0.0119|0.0119	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|B;B	.|0.02656|0.06786	.|0.0|0.001;0.001	.|B|B;B	.|0.01281|0.06405	.|0.0|0.001;0.002	T|T|T	0.39292|0.39292|0.39292	-0.9621|-0.9621|-0.9621	5|8|9	.|.|.	.|.|.	.|.|.	0.0673|0.0673|0.0673	4.8691|4.8691|4.8691	0.13624|0.13624|0.13624	0.2674:0.0:0.2605:0.4722|0.2674:0.0:0.2605:0.4722|0.2674:0.0:0.2605:0.4722	.|.|.	.|110|1108;1108	.|B4E258|B9EG60;Q9UMS6-2	.|.|.;.	M|A|C	1001|110|1108	.|ENSP00000412623:T110A|ENSP00000306015:Y1108C	.|.|.	I|T|Y	+|+|+	3|1|2	3|0|0	SYNPO2|SYNPO2|SYNPO2	120198074|120198074|120198074	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.010000|0.010000|0.010000	0.14722|0.14722|0.14722	0.708000|0.708000|0.708000	0.40852|0.40852|0.40852	-0.622000|-0.622000|-0.622000	0.05553|0.05553|0.05553	-0.643000|-0.643000|-0.643000	0.05473|0.05473|0.05473	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATA|ACC|TAC		0.448	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			22	56	22	56	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412062	126412062	+	Silent	SNP	C	C	A	rs558572205		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:126412062C>A	ENST00000394329.3	+	17	14098	c.14085C>A	c.(14083-14085)ccC>ccA	p.P4695P	FAT4_ENST00000335110.5_Silent_p.P2936P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4695					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCAACTCCCAACCCTCTGT	0.498																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14083-14085)ccC>ccA		FAT atypical cadherin 4							121.0	128.0	126.0					4																	126412062		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412062C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14085C>A	4.37:g.126412062C>A						FAT4_ENST00000335110.5_Silent_p.P2936P	p.P4695P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14098	+			4695					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.14085C>A	CCDS3732.3																																																																																				0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	127	7	127	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13923454	13923454	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:13923454C>A	ENST00000265104.4	-	4	477	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G125W(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACACATACCCCAGTAAGAGCC	0.468									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.G125W(1)	lung(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(373-375)Ggg>Tgg		dynein, axonemal, heavy chain 5							238.0	225.0	230.0					5																	13923454		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13923454C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.373G>T	5.37:g.13923454C>A	ENSP00000265104:p.Gly125Trp						p.G125W	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			4	477	-	Lung NSC(4;0.00476)		125			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.373G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047042	0.55110	.	.	ENSG00000039139	ENST00000265104	T	0.26957	1.7	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63752	-0.6566	10	0.87932	D	0	.	19.8162	0.96569	0.0:1.0:0.0:0.0	.	125	Q8TE73	DYH5_HUMAN	W	125	ENSP00000265104:G125W	ENSP00000265104:G125W	G	-	1	0	DNAH5	13976454	1.000000	0.71417	0.160000	0.22671	0.085000	0.17905	7.162000	0.77515	2.681000	0.91329	0.655000	0.94253	GGG		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	220	8	220	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:52362978A>C	ENST00000296585.5	+	16	2117	c.1974A>C	c.(1972-1974)gaA>gaC	p.E658D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	658					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGCTATAGAAGCTTCATTCA	0.353																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1972-1974)gaA>gaC		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							99.0	94.0	96.0					5																	52362978		2202	4300	6502	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52362978A>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1974A>C	5.37:g.52362978A>C	ENSP00000296585:p.Glu658Asp						p.E658D	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			16	2117	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	658					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1974A>C	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	6.820	0.520400	0.13005	.	.	ENSG00000164171	ENST00000296585	T	0.55930	0.49	4.79	0.999	0.19862	Integrin alpha-2 (1);	0.552726	0.17924	N	0.157394	T	0.24509	0.0594	N	0.08118	0	0.20196	N	0.999927	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.09840	-1.0656	10	0.37606	T	0.19	.	1.2703	0.02019	0.2987:0.2196:0.084:0.3977	.	658;658	E7ESP4;P17301	.;ITA2_HUMAN	D	658	ENSP00000296585:E658D	ENSP00000296585:E658D	E	+	3	2	ITGA2	52398735	0.038000	0.19896	0.923000	0.36655	0.997000	0.91878	-0.049000	0.11924	0.003000	0.14656	0.533000	0.62120	GAA		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		3	38	3	38	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139215340	139215340	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:139215340G>T	ENST00000274710.3	+	9	1597	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	464					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAAAGCTGGAATGGGCCA	0.532																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1390-1392)ctG>ctT		pleckstrin and Sec7 domain containing 2							245.0	246.0	246.0					5																	139215340		2203	4300	6503	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139215340G>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1392G>T	5.37:g.139215340G>T							p.L464L	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1597	+			464					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.1392G>T	CCDS4216.1																																																																																				0.532	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		9	328	9	328	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857734	140857734	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:140857734G>T	ENST00000308177.3	+	1	2155	c.2051G>T	c.(2050-2052)cGg>cTg	p.R684L	PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	684	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCCCCCGGGAGCAGAAA	0.507											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2050-2052)cGg>cTg									97.0	123.0	114.0					5																	140857734		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140857734G>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2051G>T	5.37:g.140857734G>T	ENSP00000312070:p.Arg684Leu		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron	p.R684L	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2155	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.2051G>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136701	0.21123	.	.	ENSG00000240184	ENST00000308177	T	0.47528	0.84	5.55	2.62	0.31277	Cadherin (1);	.	.	.	.	T	0.25158	0.0611	N	0.14661	0.345	0.09310	N	1	B;B	0.25743	0.133;0.095	B;B	0.19391	0.018;0.025	T	0.13335	-1.0513	9	0.29301	T	0.29	.	3.6079	0.08049	0.339:0.1887:0.4723:0.0	.	684;684	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	L	684	ENSP00000312070:R684L	ENSP00000312070:R684L	R	+	2	0	PCDHGC3	140837918	0.000000	0.05858	0.674000	0.29902	0.983000	0.72400	0.264000	0.18497	0.899000	0.36444	-0.150000	0.13652	CGG		0.507	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		6	229	6	229	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29275320	29275320	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:29275320C>A	ENST00000377160.2	+	1	918	c.854C>A	c.(853-855)cCa>cAa	p.P285Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P285Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACACTCAATCCAGTCATTTAT	0.443																																						ENST00000377160.2																			1	Substitution - Missense(1)	p.P285Q(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(853-855)cCa>cAa		olfactory receptor, family 14, subfamily J, member 1							128.0	130.0	129.0					6																	29275320		1511	2708	4219	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275320C>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.854C>A	6.37:g.29275320C>A	ENSP00000366365:p.Pro285Gln						p.P285Q	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	918	+			285					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.854C>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775536	0.90195	.	.	ENSG00000204695	ENST00000377160	T	0.64260	-0.09	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000744	T	0.75376	0.3841	M	0.69823	2.125	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.77822	-0.2445	10	0.87932	D	0	.	18.1302	0.89599	0.0:1.0:0.0:0.0	.	285	Q9UGF5	O14J1_HUMAN	Q	285	ENSP00000366365:P285Q	ENSP00000366365:P285Q	P	+	2	0	OR14J1	29383299	0.998000	0.40836	0.249000	0.24280	0.343000	0.28985	4.389000	0.59639	2.680000	0.91292	0.650000	0.86243	CCA		0.443	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			6	126	6	126	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31605230	31605230	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:31605230C>A	ENST00000376033.2	+	31	6575	c.6341C>A	c.(6340-6342)cCa>cAa	p.P2114Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2114Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2114						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TAGGCCTCCCCACCAGATGCC	0.612																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(6340-6342)cCa>cAa		proline-rich coiled-coil 2A							159.0	184.0	175.0					6																	31605230		1508	2708	4216	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31605230C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6341C>A	6.37:g.31605230C>A	ENSP00000365201:p.Pro2114Gln					PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2114Q	p.P2114Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			31	6575	+			2114					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6341C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299051	0.23650	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01787	4.64;4.64	5.93	5.93	0.95920	.	0.118235	0.38959	N	0.001518	T	0.01156	0.0038	L	0.29908	0.895	0.43657	D	0.996077	P	0.40050	0.7	B	0.38985	0.287	T	0.65780	-0.6085	10	0.87932	D	0	-0.5873	15.841	0.78845	0.0:1.0:0.0:0.0	.	2114	P48634	PRC2A_HUMAN	Q	2106;2095;2114;2114;1339	ENSP00000365175:P2114Q;ENSP00000365201:P2114Q	ENSP00000365175:P2114Q	P	+	2	0	PRRC2A	31713209	0.829000	0.29322	0.991000	0.47740	0.633000	0.38033	3.535000	0.53575	2.814000	0.96858	0.655000	0.94253	CCA		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	246	8	246	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTGGATGTCCCTTCTTCTTTG	0.413																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(526-528)aGg>aTg		exportin 5							182.0	178.0	179.0					6																	43538333		1888	4118	6006	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538333C>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.527G>T	6.37:g.43538333C>A	ENSP00000265351:p.Arg176Met						p.R176M	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		5	737	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		176					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.527G>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263879	0.95399	.	.	ENSG00000124571	ENST00000265351	T	0.46819	0.86	5.78	5.78	0.91487	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.58891	-0.7556	10	0.41790	T	0.15	-17.2057	20.3668	0.98882	0.0:1.0:0.0:0.0	.	176	Q9HAV4	XPO5_HUMAN	M	176	ENSP00000265351:R176M	ENSP00000265351:R176M	R	-	2	0	XPO5	43646311	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	AGG		0.413	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		7	201	7	201	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	ENST00000230588.4	+	8	635	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	209	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(625-627)gAg>gCg		meprin A, alpha (PABA peptide hydrolase)							196.0	167.0	177.0					6																	46793078		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46793078A>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.626A>C	6.37:g.46793078A>C	ENSP00000230588:p.Glu209Ala						p.E209A	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	635	+			209			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.626A>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754909	0.49362	.	.	ENSG00000112818	ENST00000230588	T	0.62232	0.04	6.16	4.99	0.66335	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.043102	0.85682	D	0.000000	T	0.60379	0.2264	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.59495	-0.7444	10	0.24483	T	0.36	-36.9945	13.5978	0.62000	0.8704:0.1296:0.0:0.0	.	237;209	B7ZL91;Q16819	.;MEP1A_HUMAN	A	209	ENSP00000230588:E209A	ENSP00000230588:E209A	E	+	2	0	MEP1A	46901037	1.000000	0.71417	0.897000	0.35233	0.530000	0.34684	7.318000	0.79029	1.120000	0.41904	0.528000	0.53228	GAG		0.443	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		5	85	5	85	---	---	---	---
DST	667	broad.mit.edu	37	6	56468037	56468037	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:56468037G>A	ENST00000361203.3	-	38	10497	c.10490C>T	c.(10489-10491)aCg>aTg	p.T3497M	DST_ENST00000370769.4_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000312431.6_Missense_Mutation_p.T3497M|DST_ENST00000370754.5_Missense_Mutation_p.T3675M|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	3497					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCTGTTTCGTTCTTTCTGA	0.388																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(11023-11025)aCg>aTg		dystonin							23.0	22.0	22.0					6																	56468037		875	1991	2866	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56468037G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10490C>T	6.37:g.56468037G>A	ENSP00000354508:p.Thr3497Met					DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T3497M|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.T3497M	p.T3675M			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		41	11023	-	Lung NSC(77;0.103)		3497					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.11024C>T		.	.	.	.	.	.	.	.	.	.	G	5.562	0.288489	0.10513	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.67	-5.96	0.02234	.	0.929381	0.08948	N	0.870498	T	0.08758	0.0217	.	.	.	0.23298	N	0.997954	.	.	.	.	.	.	T	0.24764	-1.0151	6	0.21540	T	0.41	.	2.4435	0.04500	0.2464:0.2421:0.3911:0.1204	.	.	.	.	M	3675;3497;3171;3497;3497	ENSP00000359790:T3675M;ENSP00000359805:T3497M;ENSP00000393645:T3171M;ENSP00000307959:T3497M;ENSP00000354508:T3497M	ENSP00000307959:T3497M	T	-	2	0	DST	56575996	0.645000	0.27286	0.067000	0.19924	0.297000	0.27493	-0.114000	0.10757	-0.463000	0.06973	-1.320000	0.01293	ACG		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		14	13	14	13	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144747493	144747493	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:144747493G>T	ENST00000367545.3	+	6	476	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	159	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGCTCAGCTGGGTGCGTCAG	0.527																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(475-477)tGg>tTg		utrophin							184.0	141.0	156.0					6																	144747493		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144747493G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.476G>T	6.37:g.144747493G>T	ENSP00000356515:p.Trp159Leu						p.W159L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	6	476	+		Ovarian(120;0.218)	159			Actin-binding.|CH 2.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.476G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592716	0.96602	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	D	0.99724	-6.54	5.92	5.92	0.95590	Calponin homology domain (5);	0.000000	0.48767	D	0.000177	D	0.99869	0.9938	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96934	0.9683	10	0.87932	D	0	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	159	P46939	UTRO_HUMAN	L	159	ENSP00000356515:W159L	ENSP00000356499:W159L	W	+	2	0	UTRN	144789186	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.810000	0.99221	2.809000	0.96659	0.467000	0.42956	TGG		0.527	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			6	94	6	94	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	257	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(769-771)Ctc>Gtc		PHD finger protein 10							177.0	173.0	174.0					6																	170114863		2203	4300	6503	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170114863G>C	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.769C>G	6.37:g.170114863G>C	ENSP00000341805:p.Leu257Val					PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	p.L257V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	7	892	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	257			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.769C>G	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127358	0.56721	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.91295	-2.82;-2.78	5.62	5.62	0.85841	.	0.116963	0.56097	D	0.000021	D	0.87010	0.6071	L	0.43757	1.38	0.80722	D	1	P;P;P	0.50369	0.778;0.577;0.934	B;B;P	0.45099	0.262;0.281;0.469	D	0.87766	0.2602	10	0.52906	T	0.07	-16.1579	18.9992	0.92826	0.0:0.0:1.0:0.0	.	169;255;257	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	V	255;257	ENSP00000355743:L255V;ENSP00000341805:L257V	ENSP00000341805:L257V	L	-	1	0	PHF10	169856788	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	5.999000	0.70665	2.795000	0.96236	0.655000	0.94253	CTC		0.418	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		14	169	14	169	---	---	---	---
SPDYE1	285955	broad.mit.edu	37	7	44040843	44040843	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:44040843C>A	ENST00000258704.3	+	1	356	c.219C>A	c.(217-219)ccC>ccA	p.P73P	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	73										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GAGTGTCACCCATCCTCCTTG	0.552																																						ENST00000258704.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(217-219)ccC>ccA		speedy/RINGO cell cycle regulator family member E1							32.0	26.0	28.0					7																	44040843		1389	2353	3742	SO:0001819	synonymous_variant	285955							g.chr7:44040843C>A	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.219C>A	7.37:g.44040843C>A						RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	p.P73P	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN			1	356	+			73					Q9NTH5	Silent	SNP	ENST00000258704.3	37	c.219C>A	CCDS5475.1																																																																																				0.552	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		4	35	4	35	---	---	---	---
SGCE	8910	broad.mit.edu	37	7	94214814	94214814	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:94214814G>T	ENST00000265735.7	-	11	1421	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	SGCE_ENST00000437425.2_Silent_p.P396P|SGCE_ENST00000428696.2_Missense_Mutation_p.P440H|SGCE_ENST00000445866.2_Silent_p.P462P|SGCE_ENST00000447873.1_Silent_p.P428P	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	437					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TCTTTCTTCAGGGATACCATT	0.363																																						ENST00000428696.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(1318-1320)cCt>cAt		sarcoglycan, epsilon							239.0	250.0	246.0					7																	94214814		2203	4300	6503	SO:0001819	synonymous_variant	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94214814G>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1311C>A	7.37:g.94214814G>T						SGCE_ENST00000437425.2_Silent_p.P396P|SGCE_ENST00000445866.2_Silent_p.P462P|SGCE_ENST00000447873.1_Silent_p.P428P|SGCE_ENST00000265735.7_Silent_p.P437P	p.P440H	NM_001099400.1	NP_001092870.1	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	1318	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		0					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.1319C>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744785	0.69418	.	.	ENSG00000127990	ENST00000428696	D	0.98120	-4.73	4.9	4.9	0.64082	.	1.238380	0.05401	N	0.540789	D	0.98912	0.9631	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.95401	0.8490	9	0.87932	D	0	.	16.6053	0.84827	0.0:0.0:1.0:0.0	.	440	E9PF60	.	H	440	ENSP00000397536:P440H	ENSP00000397536:P440H	P	-	2	0	SGCE	94052750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.431000	0.82371	0.655000	0.94253	CCT		0.363	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			11	341	11	341	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99123537	99123537	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:99123537C>A	ENST00000394170.2	+	6	1125	c.874C>A	c.(874-876)Cag>Aag	p.Q292K	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q292K|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q292K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAGCGTTCCTCAGGATCCAGA	0.498																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(874-876)Cag>Aag		zinc finger with KRAB and SCAN domains 5							106.0	102.0	103.0					7																	99123537		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123537C>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.874C>A	7.37:g.99123537C>A	ENSP00000377725:p.Gln292Lys					ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q292K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q292K	p.Q292K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			6	1125	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		292					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.874C>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	4.569	0.105624	0.08780	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.29142	1.58;1.58;1.58	4.64	4.64	0.57946	.	0.000000	0.47852	D	0.000214	T	0.30262	0.0759	L	0.55213	1.73	0.09310	N	0.999994	B;B	0.23316	0.083;0.083	B;B	0.24848	0.056;0.035	T	0.12091	-1.0561	10	0.20046	T	0.44	.	15.3963	0.74798	0.0:1.0:0.0:0.0	.	292;292	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	292	ENSP00000322872:Q292K;ENSP00000392104:Q292K;ENSP00000377725:Q292K	ENSP00000322872:Q292K	Q	+	1	0	ZKSCAN5	98961473	0.001000	0.12720	0.122000	0.21767	0.137000	0.21094	0.776000	0.26704	2.590000	0.87494	0.655000	0.94253	CAG		0.498	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		6	126	6	126	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100463781	100463781	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:100463781C>A	ENST00000354161.3	+	14	2424	c.2299C>A	c.(2299-2301)Cgg>Agg	p.R767R	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	767					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGCCCGGCTCCGGATCTTCCT	0.706																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2299-2301)Cgg>Agg		solute carrier family 12, member 9							28.0	35.0	33.0					7																	100463781		2189	4278	6467	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463781C>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2299C>A	7.37:g.100463781C>A							p.R767R	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2424	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		767					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.2299C>A	CCDS5707.1																																																																																				0.706	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		5	89	5	89	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107580685	107580685	+	Silent	SNP	C	C	A	rs373235081		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:107580685C>A	ENST00000222399.6	-	25	3740	c.3510G>T	c.(3508-3510)tcG>tcT	p.S1170S	CTB-13F3.1_ENST00000608515.1_RNA|LAMB1_ENST00000393561.1_Silent_p.S1194S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1170	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.S1170S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGAAGACCCCCGAGTACCCTC	0.592																																						ENST00000393561.1																			1	Substitution - coding silent(1)	p.S1170S(1)	lung(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3580-3582)tcG>tcT		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						123.0	105.0	111.0					7																	107580685		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107580685C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3510G>T	7.37:g.107580685C>A						LAMB1_ENST00000222399.6_Silent_p.S1170S	p.S1194S			P07942	LAMB1_HUMAN			23	3766	-			1170			Domain II.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3582G>T	CCDS5750.1																																																																																				0.592	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		7	111	7	111	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138824682	138824682	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:138824682G>T	ENST00000464848.1	+	4	361	c.281G>T	c.(280-282)tGg>tTg	p.W94L	TTC26_ENST00000474035.2_Missense_Mutation_p.W94L|TTC26_ENST00000430935.1_Missense_Mutation_p.W94L|TTC26_ENST00000343187.4_Missense_Mutation_p.W63L|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Missense_Mutation_p.W94L|TTC26_ENST00000478836.2_Missense_Mutation_p.W94L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	94					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCTGAAGTCTGGGTGAACCTA	0.378																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(280-282)tGg>tTg		tetratricopeptide repeat domain 26							127.0	118.0	121.0					7																	138824682		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138824682G>T	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.281G>T	7.37:g.138824682G>T	ENSP00000419279:p.Trp94Leu					TTC26_ENST00000430935.1_Missense_Mutation_p.W94L|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.W94L|TTC26_ENST00000343187.4_Missense_Mutation_p.W63L|TTC26_ENST00000478836.2_Missense_Mutation_p.W94L|TTC26_ENST00000495038.1_Missense_Mutation_p.W94L	p.W94L			A0AVF1	TTC26_HUMAN			4	361	+			94					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.281G>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228932	0.58777	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T;T	0.61274	0.45;0.45;0.45;0.45;0.45;0.12	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.129925	0.56097	D	0.000028	T	0.69305	0.3096	L	0.46670	1.46	0.80722	D	1	B;D;D;B;D;B;D	0.69078	0.001;0.996;0.957;0.058;0.997;0.002;0.972	B;D;P;B;D;B;P	0.81914	0.0;0.991;0.798;0.063;0.995;0.005;0.681	T	0.60037	-0.7341	10	0.11485	T	0.65	.	19.6789	0.95950	0.0:0.0:1.0:0.0	.	94;63;94;94;94;63;94	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	L	94;94;94;94;94;63	ENSP00000410655:W94L;ENSP00000418788:W94L;ENSP00000443253:W94L;ENSP00000419178:W94L;ENSP00000419279:W94L;ENSP00000339135:W63L	ENSP00000339135:W63L	W	+	2	0	TTC26	138475222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.116000	0.94341	2.741000	0.93983	0.655000	0.94253	TGG		0.378	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		5	91	5	91	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140223198	140223198	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:140223198G>T	ENST00000275884.6	-	16	2991	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P	DENND2A_ENST00000496613.1_Silent_p.P858P|DENND2A_ENST00000537639.1_Silent_p.P858P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	858					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAAGCTTCCGGGGCAGGATGG	0.597																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2572-2574)ccC>ccA		DENN/MADD domain containing 2A							59.0	62.0	61.0					7																	140223198		2018	4178	6196	SO:0001819	synonymous_variant	27147							g.chr7:140223198G>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2574C>A	7.37:g.140223198G>T						DENND2A_ENST00000537639.1_Silent_p.P858P|DENND2A_ENST00000496613.1_Silent_p.P858P	p.P858P			Q9ULE3	DEN2A_HUMAN			16	2991	-	Melanoma(164;0.00956)		858					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.2574C>A	CCDS43659.1																																																																																				0.597	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		5	67	5	67	---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149547345	149547345	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:149547345G>T	ENST00000223210.4	+	5	1280	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	345	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCACCCGGGAGGAGTGGGGCA	0.587																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(1033-1035)gaG>gaT		zinc finger protein 862							92.0	104.0	100.0					7																	149547345		2178	4282	6460	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149547345G>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1035G>T	7.37:g.149547345G>T	ENSP00000223210:p.Glu345Asp						p.E345D	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			5	1280	+			345			KRAB 2.		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1035G>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000542	0.54254	.	.	ENSG00000106479	ENST00000223210	T	0.03413	3.94	5.03	2.13	0.27403	Krueppel-associated box (4);	0.118551	0.37577	N	0.002028	T	0.05181	0.0138	M	0.68317	2.08	0.21782	N	0.999545	B	0.19073	0.033	B	0.20577	0.03	T	0.30966	-0.9960	10	0.45353	T	0.12	-32.4335	6.685	0.23140	0.3184:0.0:0.6816:0.0	.	345	O60290	ZN862_HUMAN	D	345	ENSP00000223210:E345D	ENSP00000223210:E345D	E	+	3	2	ZNF862	149178278	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.655000	0.24933	0.132000	0.18615	0.655000	0.94253	GAG		0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		4	27	4	27	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36767015	36767015	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:36767015C>A	ENST00000399881.3	+	21	2330	c.2293C>A	c.(2293-2295)Cga>Aga	p.R765R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	765					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R765G(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGAGAATGGCGATTTCTCTG	0.378																																						ENST00000399881.3																			2	Substitution - Missense(2)	p.R765G(2)	lung(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2293-2295)Cga>Aga		potassium channel, subfamily U, member 1							128.0	127.0	128.0					8																	36767015		1853	4082	5935	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36767015C>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2293C>A	8.37:g.36767015C>A							p.R765R	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2330	+			765						Silent	SNP	ENST00000399881.3	37	c.2293C>A	CCDS55220.1																																																																																				0.378	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		5	159	5	159	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578551	67578551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:67578551C>A	ENST00000310421.4	-	1	901	c.643G>T	c.(643-645)Ggg>Tgg	p.G215W	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	215	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGTCCATCCCCGTCCACATGC	0.522																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(643-645)Ggg>Tgg		valosin containing protein (p97)/p47 complex interacting protein 1							91.0	89.0	89.0					8																	67578551		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578551C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.643G>T	8.37:g.67578551C>A	ENSP00000309031:p.Gly215Trp						p.G215W	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	901	-		Lung NSC(129;0.142)|all_lung(136;0.227)	215			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.643G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331348	0.60853	.	.	ENSG00000175073	ENST00000310421	T	0.38722	1.12	6.16	6.16	0.99307	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70687	-0.4803	10	0.87932	D	0	-11.5859	20.8598	0.99761	0.0:1.0:0.0:0.0	.	215	Q96JH7	VCIP1_HUMAN	W	215	ENSP00000309031:G215W	ENSP00000309031:G215W	G	-	1	0	VCPIP1	67741105	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.937000	0.99478	0.650000	0.86243	GGG		0.522	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			5	115	5	115	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105503275	105503275	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:105503275C>A	ENST00000276654.5	-	7	2314	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	LRP12_ENST00000424843.2_Missense_Mutation_p.G717W|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	736					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGCGTAGCCCCTGAGTCATA	0.483																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2206-2208)Ggg>Tgg		low density lipoprotein receptor-related protein 12							116.0	97.0	104.0					8																	105503275		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503275C>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2206G>T	8.37:g.105503275C>A	ENSP00000276654:p.Gly736Trp					LRP12_ENST00000424843.2_Missense_Mutation_p.G717W|LRP12_ENST00000518375.1_5'UTR	p.G736W	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2314	-			736					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2206G>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178850	0.57692	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.84660	-1.88;-1.8	5.51	5.51	0.81932	.	0.089998	0.85682	D	0.000000	D	0.87466	0.6184	N	0.19112	0.55	0.58432	D	0.999992	D;D	0.69078	0.997;0.996	D;P	0.68483	0.958;0.908	D	0.89043	0.3450	10	0.72032	D	0.01	-20.8121	19.7828	0.96424	0.0:1.0:0.0:0.0	.	717;736	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	W	717;736;101	ENSP00000399148:G717W;ENSP00000276654:G736W	ENSP00000276654:G736W	G	-	1	0	LRP12	105572451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.983000	0.56916	2.747000	0.94245	0.650000	0.86243	GGG		0.483	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		6	88	6	88	---	---	---	---
TG	7038	broad.mit.edu	37	8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:133935616T>A	ENST00000220616.4	+	22	4602	c.4562T>A	c.(4561-4563)cTg>cAg	p.L1521Q	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1521	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCAGGCCTGCAATGTGAC	0.577																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4561-4563)cTg>cAg		thyroglobulin							92.0	84.0	87.0					8																	133935616		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935616T>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4562T>A	8.37:g.133935616T>A	ENSP00000220616:p.Leu1521Gln					TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.L1521Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	22	4602	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1521			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4562T>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336202	0.60963	.	.	ENSG00000042832	ENST00000543313;ENST00000220616	D	0.97553	-4.43	4.84	4.84	0.62591	Thyroglobulin type-1 (4);	0.000000	0.43919	D	0.000510	D	0.97914	0.9314	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98397	1.0566	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.0:1.0	.	1521	P01266	THYG_HUMAN	Q	327;1521	ENSP00000220616:L1521Q	ENSP00000220616:L1521Q	L	+	2	0	TG	134004798	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	4.502000	0.60400	1.822000	0.53115	0.454000	0.30748	CTG		0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		7	94	7	94	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164039	139164039	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:139164039G>T	ENST00000395297.1	-	13	2849	c.2679C>A	c.(2677-2679)acC>acA	p.T893T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	893										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAGAGATCTGGTCCTGGGGT	0.468										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2677-2679)acC>acA		family with sequence similarity 135, member B							130.0	125.0	126.0					8																	139164039		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139164039G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2679C>A	8.37:g.139164039G>T		HNSCC(54;0.14)					p.T893T	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2849	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		893					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2679C>A	CCDS6375.2																																																																																				0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		6	164	6	164	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	ENST00000360774.1	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000451710.3_Missense_Mutation_p.D1461E	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1461					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4381-4383)gaT>gaG		transient receptor potential cation channel, subfamily M, member 6							119.0	118.0	118.0					9																	77377204		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377204A>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4383T>G	9.37:g.77377204A>C	ENSP00000354006:p.Asp1461Glu					TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E	p.D1461E			Q9BX84	TRPM6_HUMAN			26	4620	-			1461					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4383T>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467388	0.26335	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.58060	0.46;0.45;0.46;0.46;0.36	5.81	4.67	0.58626	.	0.526636	0.20846	N	0.084606	T	0.27524	0.0676	N	0.08118	0	0.36129	D	0.845976	B;B;B	0.28350	0.067;0.208;0.11	B;B;B	0.27170	0.028;0.077;0.063	T	0.19877	-1.0292	10	0.21540	T	0.41	.	5.596	0.17327	0.6716:0.0:0.0715:0.2569	.	1461;1456;1456	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	E	1461;1461;1456;1456;1461	ENSP00000354006:D1461E;ENSP00000407341:D1461E;ENSP00000396672:D1456E;ENSP00000354962:D1456E;ENSP00000366060:D1461E	ENSP00000354006:D1461E	D	-	3	2	TRPM6	76567024	1.000000	0.71417	0.991000	0.47740	0.129000	0.20672	1.197000	0.32211	1.034000	0.39945	0.533000	0.62120	GAT		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		44	98	44	98	---	---	---	---
SPTLC1	10558	broad.mit.edu	37	9	94877638	94877638	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:94877638C>A	ENST00000262554.2	-	1	20	c.15G>T	c.(13-15)acG>acT	p.T5T	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.T5T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	5					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CCCACTGCTCCGTGGCGGTCG	0.657																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(13-15)acG>acT		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						30.0	33.0	32.0					9																	94877638		2184	4273	6457	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94877638C>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.15G>T	9.37:g.94877638C>A						SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.T5T	p.T5T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			1	20	-			5					A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.15G>T	CCDS6692.1																																																																																				0.657	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		4	60	4	60	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24909324	24909324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:24909324C>A	ENST00000396432.2	-	9	1986	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E287D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	499					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CATCCTGTCCCTCAATATAAT	0.393																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(1498-1500)gaG>gaT		Rho GTPase activating protein 21							40.0	43.0	42.0					10																	24909324		2189	4290	6479	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909324C>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1500G>T	10.37:g.24909324C>A	ENSP00000379709:p.Glu500Asp					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E287D	p.E500D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1986	-			499					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.1500G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	8.113	0.779288	0.16120	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.45276	2.85;2.96;0.9;0.9	5.76	1.79	0.24919	.	0.513490	0.22187	N	0.063435	T	0.32971	0.0847	L	0.50333	1.59	0.25458	N	0.98795	B;B	0.24186	0.099;0.0	B;B	0.29440	0.102;0.001	T	0.24657	-1.0154	10	0.19590	T	0.45	.	7.3853	0.26878	0.0:0.4344:0.353:0.2126	.	490;499	F8W9U9;Q5T5U3	.;RHG21_HUMAN	D	500;489;287;490;500;335	ENSP00000379709:E500D;ENSP00000365604:E287D;ENSP00000365592:E490D;ENSP00000405018:E500D	ENSP00000365604:E287D	E	-	3	2	ARHGAP21	24949330	0.998000	0.40836	0.854000	0.33618	0.944000	0.59088	0.476000	0.22180	0.139000	0.18822	0.650000	0.86243	GAG		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		5	84	5	84	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48426603	48426603	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:48426603G>T	ENST00000224605.2	-	3	1669	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	468					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGACATGTTGGGGTACACCT	0.587											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1402-1404)ccC>ccA		growth differentiation factor 10							116.0	116.0	116.0					10																	48426603		2203	4300	6503	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48426603G>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1404C>A	10.37:g.48426603G>T			OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954		p.P468P	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			3	1669	-			468					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.1404C>A	CCDS7220.1																																																																																				0.587	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		6	146	6	146	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70666556	70666556	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:70666556C>A	ENST00000373585.3	+	2	284	c.177C>A	c.(175-177)ccC>ccA	p.P59P		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	59						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGGATGCTCCCAAGGCCAAAA	0.378																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(175-177)ccC>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							80.0	80.0	80.0					10																	70666556		2203	4300	6503	SO:0001819	synonymous_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666556C>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.177C>A	10.37:g.70666556C>A							p.P59P	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	284	+			59					Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	ENST00000373585.3	37	c.177C>A	CCDS7283.1																																																																																				0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		6	97	6	97	---	---	---	---
IFIT5	24138	broad.mit.edu	37	10	91177698	91177698	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:91177698C>A	ENST00000371795.4	+	2	955	c.742C>A	c.(742-744)Cag>Aag	p.Q248K	IFIT5_ENST00000416601.1_Missense_Mutation_p.Q200K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	248					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AATATCATCCCAGCCTTACGT	0.413																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(742-744)Cag>Aag		interferon-induced protein with tetratricopeptide repeats 5							84.0	89.0	87.0					10																	91177698		2202	4299	6501	SO:0001583	missense	24138						binding	g.chr10:91177698C>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.742C>A	10.37:g.91177698C>A	ENSP00000360860:p.Gln248Lys					IFIT5_ENST00000416601.1_Missense_Mutation_p.Q200K	p.Q248K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	955	+			248					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.742C>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	5.745	0.321958	0.10900	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.53423	0.62;0.62	6.03	2.9	0.33743	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.587823	0.19455	N	0.113849	T	0.34890	0.0913	L	0.38175	1.15	0.09310	N	1	B;B	0.17038	0.006;0.02	B;B	0.14023	0.01;0.01	T	0.15235	-1.0444	10	0.20519	T	0.43	-2.8002	11.5872	0.50925	0.0:0.605:0.3284:0.0666	.	248;200	Q13325;B4DDV1	IFIT5_HUMAN;.	K	248;200	ENSP00000360860:Q248K;ENSP00000414042:Q200K	ENSP00000360860:Q248K	Q	+	1	0	IFIT5	91167678	0.001000	0.12720	0.059000	0.19551	0.819000	0.46315	0.516000	0.22817	1.529000	0.49120	0.655000	0.94253	CAG		0.413	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		5	73	5	73	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114711014	114711014	+	Silent	SNP	C	C	A	rs545962791		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:114711014C>A	ENST00000355995.4	+	2	745	c.238C>A	c.(238-240)Cgg>Agg	p.R80R	TCF7L2_ENST00000534894.1_Silent_p.R80R|TCF7L2_ENST00000538897.1_Silent_p.R80R|TCF7L2_ENST00000349937.2_Silent_p.R80R|TCF7L2_ENST00000369395.1_Silent_p.R80R|TCF7L2_ENST00000352065.5_Silent_p.R80R|TCF7L2_ENST00000355717.4_Silent_p.R80R|TCF7L2_ENST00000543371.1_Silent_p.R80R|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.R80R|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000536810.1_Silent_p.R80R|TCF7L2_ENST00000369397.4_Silent_p.R80R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	80					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGACAAATCCCGGGAAAGTTT	0.746			T	VTI1A	colorectal								c|||	1	0.000199681	0.0	0.0	5008	,	,		3560	0.0		0.0	False		,,,				2504	0.001					ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(238-240)Cgg>Agg		transcription factor 7-like 2 (T-cell specific, HMG-box)							10.0	11.0	11.0					10																	114711014		2194	4287	6481	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114711014C>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.238C>A	10.37:g.114711014C>A						TCF7L2_ENST00000538897.1_Silent_p.R80R|TCF7L2_ENST00000534894.1_Silent_p.R80R|TCF7L2_ENST00000352065.5_Silent_p.R80R|TCF7L2_ENST00000349937.2_Silent_p.R80R|TCF7L2_ENST00000543371.1_Silent_p.R80R|TCF7L2_ENST00000369395.1_Silent_p.R80R|TCF7L2_ENST00000536810.1_Silent_p.R80R|TCF7L2_ENST00000369397.4_Silent_p.R80R|TCF7L2_ENST00000355717.4_Silent_p.R80R|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.R80R	p.R80R			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	2	745	+		Breast(234;0.058)|Colorectal(252;0.0615)	80					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.238C>A																																																																																					0.746	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		3	14	3	14	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	ENST00000368642.4	-	9	1351	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1264-1266)gaA>gaT		transcription elongation regulator 1-like							73.0	60.0	65.0					10																	132915191		2203	4299	6502	SO:0001583	missense	256536							g.chr10:132915191T>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1266A>T	10.37:g.132915191T>A	ENSP00000357631:p.Glu422Asp						p.E422D	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	9	1351	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	422					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1266A>T	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570713	0.28003	.	.	ENSG00000176769	ENST00000368642	T	0.24151	1.87	4.18	1.6	0.23607	.	0.076480	0.51477	D	0.000090	T	0.14570	0.0352	L	0.32530	0.975	0.37551	D	0.918709	P	0.43750	0.816	B	0.35813	0.211	T	0.12502	-1.0545	10	0.33141	T	0.24	.	7.8956	0.29704	0.0:0.0:0.42:0.58	.	422	Q5VWI1	TCRGL_HUMAN	D	422	ENSP00000357631:E422D	ENSP00000357631:E422D	E	-	3	2	TCERG1L	132805181	1.000000	0.71417	0.237000	0.24090	0.017000	0.09413	2.064000	0.41432	0.123000	0.18342	0.528000	0.53228	GAA		0.567	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		6	18	6	18	---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4623608	4623608	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:4623608C>A	ENST00000300747.5	-	4	846	c.557G>T	c.(556-558)tGg>tTg	p.W186L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	186					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCAAACTCCCATACAATACT	0.498																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(556-558)tGg>tTg		tripartite motif containing 68							81.0	79.0	79.0					11																	4623608		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4623608C>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.557G>T	11.37:g.4623608C>A	ENSP00000300747:p.Trp186Leu						p.W186L	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	846	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	186					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.557G>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	4.020	0.001161	0.07819	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.69926	3.75;-0.44	4.37	2.42	0.29668	.	0.000000	0.39210	N	0.001435	T	0.42720	0.1215	N	0.20685	0.6	0.29516	N	0.85386	B;B	0.15719	0.014;0.012	B;B	0.15870	0.004;0.014	T	0.16660	-1.0395	10	0.18276	T	0.48	.	4.458	0.11652	0.2245:0.6604:0.0:0.1151	.	154;186	E9PR29;Q6AZZ1	.;TRI68_HUMAN	L	186;154	ENSP00000300747:W186L;ENSP00000436112:W154L	ENSP00000300747:W186L	W	-	2	0	TRIM68	4580184	0.004000	0.15560	0.972000	0.41901	0.154000	0.21943	0.155000	0.16362	1.088000	0.41272	0.561000	0.74099	TGG		0.498	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		4	41	4	41	---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	rs17854361		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:46569829T>A	ENST00000458649.2	-	2	520	c.102A>T	c.(100-102)gaA>gaT	p.E34D	AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	34					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGTTTTATCTTCTACCAGCT	0.512																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(100-102)gaA>gaT		autophagy/beclin-1 regulator 1							194.0	204.0	201.0					11																	46569829		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46569829T>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.102A>T	11.37:g.46569829T>A	ENSP00000415327:p.Glu34Asp					AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D	p.E34D			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	2	520	-			34					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.102A>T		.	.	.	.	.	.	.	.	.	.	T	18.34	3.601818	0.66445	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.71341	-0.4;-0.56;-0.29;-0.42;-0.29;-0.4;-0.42	6.08	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.70369	0.3216	N	0.25957	0.775	0.47862	D	0.99953	D;D;D;D;D;D	0.67145	0.994;0.996;0.996;0.996;0.996;0.996	D;D;D;D;D;D	0.76071	0.97;0.987;0.987;0.987;0.987;0.987	T	0.68473	-0.5399	10	0.46703	T	0.11	.	6.5834	0.22607	0.0:0.4362:0.0:0.5638	.	34;34;34;34;34;34	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	D	34	ENSP00000318313:E34D;ENSP00000433372:E34D;ENSP00000431926:E34D;ENSP00000410899:E34D;ENSP00000298834:E34D;ENSP00000415327:E34D;ENSP00000433945:E34D	ENSP00000298834:E34D	E	-	3	2	AMBRA1	46526405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.775000	0.38584	0.917000	0.36895	0.482000	0.46254	GAA		0.512	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		15	427	15	427	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	ENST00000312253.1	-	1	524	c.525C>G	c.(523-525)aaC>aaG	p.N175K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(523-525)aaC>aaG		olfactory receptor, family 5, subfamily R, member 1							105.0	99.0	101.0					11																	56185184		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185184G>C	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.525C>G	11.37:g.56185184G>C	ENSP00000308595:p.Asn175Lys						p.N175K	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	524	-	Esophageal squamous(21;0.00448)		175						Missense_Mutation	SNP	ENST00000312253.1	37	c.525C>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739153	0.30774	.	.	ENSG00000174942	ENST00000312253	T	0.00115	8.71	5.91	-6.89	0.01660	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.76002	2.32	0.18873	N	0.999985	D	0.89917	1.0	D	0.77004	0.989	T	0.03453	-1.1035	9	0.54805	T	0.06	-17.04	11.3071	0.49342	0.576:0.0:0.3414:0.0827	.	175	Q8NH85	OR5R1_HUMAN	K	175	ENSP00000308595:N175K	ENSP00000308595:N175K	N	-	3	2	OR5R1	55941760	0.006000	0.16342	0.543000	0.28128	0.070000	0.16714	-0.529000	0.06186	-1.005000	0.03417	-0.986000	0.02555	AAC		0.433	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		20	98	20	98	---	---	---	---
PRG2	5553	broad.mit.edu	37	11	57156158	57156158	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:57156158C>A	ENST00000311862.5	-	4	463	c.390G>T	c.(388-390)agG>agT	p.R130S	PRG2_ENST00000533605.1_Missense_Mutation_p.R119S|PRG2_ENST00000525955.1_Missense_Mutation_p.R130S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	130	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CCAGGTTGCCCCTGTAGCACC	0.473																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(388-390)agG>agT		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)							91.0	87.0	88.0					11																	57156158		2201	4296	6497	SO:0001583	missense	5553							g.chr11:57156158C>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.390G>T	11.37:g.57156158C>A	ENSP00000312134:p.Arg130Ser					PRG2_ENST00000533605.1_Missense_Mutation_p.R119S|PRG2_ENST00000525955.1_Missense_Mutation_p.R130S	p.R130S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	463	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.390G>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145756	0.37923	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.52057	0.68;1.03;0.68	5.32	0.22	0.15279	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.329474	0.21629	N	0.071509	T	0.47229	0.1434	L	0.56340	1.77	0.09310	N	1	P;B	0.47191	0.891;0.268	P;B	0.54100	0.742;0.349	T	0.33548	-0.9864	10	0.33940	T	0.23	.	4.1153	0.10079	0.1521:0.5109:0.0:0.337	.	119;130	A6XMW0;P13727	.;PRG2_HUMAN	S	130;119;130	ENSP00000312134:R130S;ENSP00000433231:R119S;ENSP00000433016:R130S	ENSP00000312134:R130S	R	-	3	2	PRG2	56912734	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-1.682000	0.01935	-0.224000	0.09928	-0.300000	0.09419	AGG		0.473	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		6	91	6	91	---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71277128	71277128	+	Silent	SNP	C	C	A	rs561261582	byFrequency	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:71277128C>A	ENST00000398531.1	+	1	520	c.495C>A	c.(493-495)ccC>ccA	p.P165P	KRTAP5-10_ENST00000376536.4_Silent_p.P117P	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	165	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						gctgcaatccctgctgctgcc	0.632																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(493-495)ccC>ccA		keratin associated protein 5-10							92.0	103.0	99.0					11																	71277128		2200	4293	6493	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71277128C>A	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.495C>A	11.37:g.71277128C>A						KRTAP5-10_ENST00000376536.4_Silent_p.P117P	p.P165P	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	520	+			165			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.495C>A	CCDS41684.1																																																																																				0.632	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			8	188	8	188	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087998	92087998	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:92087998G>T	ENST00000298047.6	+	1	2737	c.2720G>T	c.(2719-2721)aGg>aTg	p.R907M	FAT3_ENST00000525166.1_Missense_Mutation_p.R757M|FAT3_ENST00000409404.2_Missense_Mutation_p.R907M|FAT3_ENST00000541502.1_Missense_Mutation_p.R907M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	907	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAGAAGCCAGGGACAAGGCA	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2719-2721)aGg>aTg		FAT atypical cadherin 3							108.0	107.0	107.0					11																	92087998		1882	4126	6008	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087998G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2720G>T	11.37:g.92087998G>T	ENSP00000298047:p.Arg907Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.R907M|FAT3_ENST00000525166.1_Missense_Mutation_p.R757M|FAT3_ENST00000541502.1_Missense_Mutation_p.R907M	p.R907M			Q8TDW7	FAT3_HUMAN			1	2737	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	907			Cadherin 8.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2720G>T		.	.	.	.	.	.	.	.	.	.	G	18.14	3.558620	0.65538	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53640	4.65;4.65;0.61;4.65	5.58	5.58	0.84498	.	.	.	.	.	T	0.71787	0.3381	M	0.80028	2.48	0.48341	D	0.999637	D	0.89917	1.0	D	0.91635	0.999	T	0.73607	-0.3929	9	0.54805	T	0.06	.	18.562	0.91104	0.0:0.0:1.0:0.0	.	907	Q8TDW7-3	.	M	907;907;907;757	ENSP00000298047:R907M;ENSP00000387040:R907M;ENSP00000443786:R907M;ENSP00000432586:R757M	ENSP00000298047:R907M	R	+	2	0	FAT3	91727646	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.727000	0.98787	2.637000	0.89404	0.467000	0.42956	AGG		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	177	7	177	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129772217	129772217	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:129772217G>T	ENST00000360871.3	-	21	3693	c.3462C>A	c.(3460-3462)acC>acA	p.T1154T	PRDM10_ENST00000358825.5_Silent_p.T1158T|PRDM10_ENST00000526082.1_Silent_p.T1072T|PRDM10_ENST00000528746.1_Silent_p.T1115T|PRDM10_ENST00000304538.6_Silent_p.T1021T|PRDM10_ENST00000423662.2_Silent_p.T1059T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTCATGGTTTGGTGATATGCA	0.512																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3472-3474)acC>acA		PR domain containing 10							315.0	278.0	290.0					11																	129772217		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129772217G>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3462C>A	11.37:g.129772217G>T						PRDM10_ENST00000528746.1_Silent_p.T1115T|PRDM10_ENST00000526082.1_Silent_p.T1072T|PRDM10_ENST00000423662.2_Silent_p.T1059T|PRDM10_ENST00000360871.3_Silent_p.T1154T|PRDM10_ENST00000304538.6_Silent_p.T1021T	p.T1158T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	22	3705	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1145					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.3474C>A	CCDS8484.1																																																																																				0.512	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		6	152	6	152	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129785692	129785692	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:129785692G>T	ENST00000360871.3	-	16	2620	c.2389C>A	c.(2389-2391)Cca>Aca	p.P797T	PRDM10_ENST00000358825.5_Missense_Mutation_p.P801T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P715T|PRDM10_ENST00000528746.1_Missense_Mutation_p.P771T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P711T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P715T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	801					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATGCTCGGTGGGAGCTCTGCT	0.582																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2401-2403)Cca>Aca		PR domain containing 10							119.0	116.0	117.0					11																	129785692		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129785692G>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2389C>A	11.37:g.129785692G>T	ENSP00000354118:p.Pro797Thr					PRDM10_ENST00000528746.1_Missense_Mutation_p.P771T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P715T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P715T|PRDM10_ENST00000360871.3_Missense_Mutation_p.P797T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P711T	p.P801T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	17	2632	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	801					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2401C>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978023	0.92982	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11930	2.77;2.85;2.77;2.79;2.82;2.73;2.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.998;0.996;0.998;0.999;0.998	T	0.25882	-1.0119	10	0.66056	D	0.02	-15.3324	20.8794	0.99867	0.0:0.0:1.0:0.0	.	711;797;801;715;711;715	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	T	801;711;797;715;771;715;514	ENSP00000351686:P801T;ENSP00000302669:P711T;ENSP00000354118:P797T;ENSP00000398431:P715T;ENSP00000431262:P771T;ENSP00000432237:P715T;ENSP00000435940:P514T	ENSP00000302669:P711T	P	-	1	0	PRDM10	129290902	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CCA		0.582	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	169	7	169	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13717392	13717392	+	Missense_Mutation	SNP	C	C	A	rs199677214		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:13717392C>A	ENST00000609686.1	-	13	2989	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	927					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R927Q(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGATGACTCCCGTCGGATGAA	0.572																																						ENST00000609686.1																			1	Substitution - Missense(1)	p.R927Q(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2779-2781)cGg>cTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						169.0	158.0	162.0					12																	13717392		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717392C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2780G>T	12.37:g.13717392C>A	ENSP00000477455:p.Arg927Leu						p.R927L	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2989	-								Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2780G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131716	0.56828	.	.	ENSG00000150086	ENST00000279593	T	0.13657	2.57	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.58810	1.83	0.80722	D	1	B	0.33266	0.404	P	0.45946	0.498	T	0.02512	-1.1148	10	0.72032	D	0.01	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	927	Q13224	NMDE2_HUMAN	L	927	ENSP00000279593:R927L	ENSP00000279593:R927L	R	-	2	0	GRIN2B	13608659	1.000000	0.71417	0.929000	0.37066	0.103000	0.19146	6.065000	0.71176	2.561000	0.86390	0.655000	0.94253	CGG		0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	241	7	241	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53002038	53002038	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53002038C>A	ENST00000305748.3	-	9	1599	c.1565G>T	c.(1564-1566)aGg>aTg	p.R522M	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	522	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGGAGTCCCTGAATTCACT	0.572																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1564-1566)aGg>aTg		keratin 73							179.0	183.0	182.0					12																	53002038		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53002038C>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1565G>T	12.37:g.53002038C>A	ENSP00000307014:p.Arg522Met					RP11-641A6.2_ENST00000551089.1_RNA	p.R522M	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1599	-			522			Tail.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1565G>T	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.692562	0.48202	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.82711	-1.55;-1.64	5.15	2.78	0.32641	.	0.128112	0.34291	N	0.004083	T	0.72771	0.3502	N	0.14661	0.345	0.22737	N	0.998796	P	0.43352	0.804	P	0.47206	0.541	T	0.64968	-0.6282	10	0.72032	D	0.01	.	7.0362	0.24995	0.0:0.1846:0.0:0.8154	.	522	Q86Y46	K2C73_HUMAN	M	522;267	ENSP00000307014:R522M;ENSP00000449081:R267M	ENSP00000307014:R522M	R	-	2	0	KRT73	51288305	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	0.655000	0.24933	0.379000	0.24794	-0.294000	0.09567	AGG		0.572	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		6	145	6	145	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53666575	53666575	+	Silent	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	ENST00000257934.4	+	6	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_ENST00000552462.1_Silent_p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	480					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1438-1440)tcT>tcG		extra spindle pole bodies homolog 1 (S. cerevisiae)							168.0	160.0	163.0					12																	53666575		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53666575T>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1440T>G	12.37:g.53666575T>G						ESPL1_ENST00000552462.1_Silent_p.S480S	p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			6	1531	+			480						Silent	SNP	ENST00000257934.4	37	c.1440T>G	CCDS8852.1																																																																																				0.522	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		22	223	22	223	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53876702	53876702	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53876702C>A	ENST00000267079.2	-	12	2011	c.1786G>T	c.(1786-1788)Ggg>Tgg	p.G596W	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G629W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G629W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	596					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGATGAAGCCCACGGAGGGCG	0.677																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1786-1788)Ggg>Tgg		mitogen-activated protein kinase kinase kinase 12							40.0	45.0	43.0					12																	53876702		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876702C>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1786G>T	12.37:g.53876702C>A	ENSP00000267079:p.Gly596Trp					MAP3K12_ENST00000547488.1_Missense_Mutation_p.G629W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G629W	p.G596W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	2011	-			596					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1786G>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618579	0.66787	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.76448	-1.0;-1.02;-1.02	3.99	3.99	0.46301	.	0.000000	0.46442	D	0.000291	T	0.80613	0.4656	L	0.29908	0.895	0.46849	D	0.999228	D;D	0.65815	0.995;0.977	D;P	0.65323	0.934;0.778	T	0.82866	-0.0245	10	0.62326	D	0.03	.	16.0449	0.80714	0.0:1.0:0.0:0.0	.	629;596	G3V1Y2;Q12852	.;M3K12_HUMAN	W	596;629;629	ENSP00000267079:G596W;ENSP00000449038:G629W;ENSP00000448689:G629W	ENSP00000267079:G596W	G	-	1	0	MAP3K12	52162969	0.958000	0.32768	1.000000	0.80357	0.733000	0.41908	2.452000	0.44961	2.523000	0.85059	0.491000	0.48974	GGG		0.677	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		5	72	5	72	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54756634	54756634	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:54756634G>T	ENST00000551809.1	-	1	1637	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.P334P			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	334						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCAGCAAGAAGGGGATGTAGC	0.532																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1000-1002)ccC>ccA		G protein-coupled receptor 84							136.0	135.0	135.0					12																	54756634		2203	4300	6503	SO:0001819	synonymous_variant	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756634G>T	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1002C>A	12.37:g.54756634G>T						GPR84_ENST00000267015.3_Silent_p.P334P|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.P334P			Q9NQS5	GPR84_HUMAN			1	1637	-			334					B6V9G7	Silent	SNP	ENST00000551809.1	37	c.1002C>A	CCDS8878.1																																																																																				0.532	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	154	7	154	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57574174	57574174	+	Silent	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	ENST00000243077.3	+	32	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1766					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5296-5298)atC>atT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						127.0	138.0	134.0					12																	57574174		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57574174C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5298C>T	12.37:g.57574174C>T							p.I1766I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	32	5764	+			1766					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5298C>T	CCDS8932.1																																																																																				0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		25	224	25	224	---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83359553	83359553	+	Intron	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:83359553C>A	ENST00000321196.3	+	6	2576				TMTC2_ENST00000548305.1_Silent_p.P633P|TMTC2_ENST00000549919.1_Intron	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2						calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTCCTTTTCCCTCCCCCTTGT	0.448																																						ENST00000548305.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1897-1899)ccC>ccA		transmembrane and tetratricopeptide repeat containing 2							72.0	69.0	70.0					12																	83359553		2203	4299	6502	SO:0001627	intron_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83359553C>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1869+30C>A	12.37:g.83359553C>A						TMTC2_ENST00000321196.3_Intron|TMTC2_ENST00000549919.1_Intron	p.P633P			Q8N394	TMTC2_HUMAN			6	2485	+			0					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.1899C>A	CCDS9025.1																																																																																				0.448	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		5	71	5	71	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107144510	107144510	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:107144510C>A	ENST00000392842.1	+	17	2288	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P634H|RFX4_ENST00000229387.5_Missense_Mutation_p.P531H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	625					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCGGCCCTCCCTCATGACACA	0.537																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1873-1875)cCt>cAt		regulatory factor X, 4 (influences HLA class II expression)							186.0	167.0	173.0					12																	107144510		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107144510C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1874C>A	12.37:g.107144510C>A	ENSP00000376585:p.Pro625His					RFX4_ENST00000357881.4_Missense_Mutation_p.P634H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P531H	p.P625H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			17	2288	+			625					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1874C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779113	0.90195	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.68765	-0.34;-0.35;0.62	5.58	5.58	0.84498	.	0.149505	0.64402	D	0.000009	T	0.58977	0.2160	N	0.14661	0.345	0.46701	D	0.999169	P;P;B	0.40875	0.731;0.514;0.38	B;B;B	0.43478	0.391;0.421;0.174	T	0.65705	-0.6103	10	0.87932	D	0	-13.4116	19.5609	0.95371	0.0:1.0:0.0:0.0	.	531;634;625	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	H	625;634;531	ENSP00000376585:P625H;ENSP00000350552:P634H;ENSP00000229387:P531H	ENSP00000229387:P531H	P	+	2	0	RFX4	105668640	0.988000	0.35896	0.996000	0.52242	0.989000	0.77384	7.456000	0.80751	2.645000	0.89757	0.655000	0.94253	CCT		0.537	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	190	7	190	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389492	20389492	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:20389492C>A	ENST00000315915.4	+	1	752	c.727C>A	c.(727-729)Cat>Aat	p.H243N		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGGCTTCCCATATTGCAGT	0.403																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(727-729)Cat>Aat		olfactory receptor, family 4, subfamily K, member 5							250.0	263.0	259.0					14																	20389492		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389492C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.727C>A	14.37:g.20389492C>A	ENSP00000319511:p.His243Asn						p.H243N	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	752	+	all_cancers(95;0.00108)		243					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.727C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.969785	0.34754	.	.	ENSG00000176281	ENST00000315915	T	0.00314	8.14	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.01489	0.0048	H	0.99074	4.42	0.39867	D	0.973455	D	0.89917	1.0	D	0.97110	1.0	T	0.05801	-1.0863	10	0.87932	D	0	.	14.7531	0.69543	0.0:1.0:0.0:0.0	.	243	Q8NGD3	OR4K5_HUMAN	N	243	ENSP00000319511:H243N	ENSP00000319511:H243N	H	+	1	0	OR4K5	19459332	0.979000	0.34478	0.052000	0.19188	0.054000	0.15201	5.139000	0.64801	2.329000	0.79093	0.655000	0.94253	CAT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		8	300	8	300	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21960728	21960728	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:21960728C>A	ENST00000405508.1	+	8	1229	c.953C>A	c.(952-954)cCt>cAt	p.P318H	TOX4_ENST00000262709.3_Missense_Mutation_p.P318H|TOX4_ENST00000448790.2_Missense_Mutation_p.P295H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	318						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCCACCTCCTATGGCTACT	0.468																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(952-954)cCt>cAt		TOX high mobility group box family member 4							126.0	119.0	121.0					14																	21960728		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960728C>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.953C>A	14.37:g.21960728C>A	ENSP00000385102:p.Pro318His					TOX4_ENST00000262709.3_Missense_Mutation_p.P318H|TOX4_ENST00000448790.2_Missense_Mutation_p.P295H	p.P318H			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1229	+	all_cancers(95;0.000465)		318					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.953C>A	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857872	0.71834	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.13657	2.57;2.57;2.58	4.8	4.8	0.61643	.	0.244658	0.40640	N	0.001043	T	0.15696	0.0378	L	0.27053	0.805	0.54753	D	0.999982	P;P	0.52463	0.953;0.953	P;P	0.47075	0.536;0.536	T	0.01294	-1.1393	10	0.72032	D	0.01	.	17.1232	0.86707	0.0:1.0:0.0:0.0	.	295;318	B4DPY8;O94842	.;TOX4_HUMAN	H	318;318;295;246	ENSP00000385102:P318H;ENSP00000262709:P318H;ENSP00000393080:P295H	ENSP00000262709:P318H	P	+	2	0	TOX4	21030568	0.987000	0.35691	1.000000	0.80357	0.978000	0.69477	4.190000	0.58365	2.656000	0.90262	0.484000	0.47621	CCT		0.468	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		7	153	7	153	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650448	93650448	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:93650448C>A	ENST00000556883.1	-	2	624	c.140G>T	c.(139-141)gGg>gTg	p.G47V	RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.G47V			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	47					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tctgtactcccccaagggagc	0.552																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(139-141)gGg>gTg		modulator of apoptosis 1							123.0	133.0	130.0					14																	93650448		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650448C>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.140G>T	14.37:g.93650448C>A	ENSP00000451594:p.Gly47Val					MOAP1_ENST00000298894.4_Missense_Mutation_p.G47V	p.G47V			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	624	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	47					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.140G>T	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626200	0.46840	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.15256	2.44;2.44	3.46	3.46	0.39613	.	.	.	.	.	T	0.28001	0.0690	L	0.58510	1.815	0.25747	N	0.985096	P	0.43352	0.804	P	0.51487	0.671	T	0.03259	-1.1055	9	0.44086	T	0.13	-3.9129	10.8095	0.46538	0.0:1.0:0.0:0.0	.	47	Q96BY2	MOAP1_HUMAN	V	47	ENSP00000298894:G47V;ENSP00000451594:G47V	ENSP00000298894:G47V	G	-	2	0	MOAP1	92720201	0.176000	0.23096	0.115000	0.21578	0.717000	0.41224	2.453000	0.44970	2.258000	0.74832	0.650000	0.86243	GGG		0.552	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			7	141	7	141	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28375390	28375390	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:28375390G>T	ENST00000261609.7	-	83	12829	c.12721C>A	c.(12721-12723)Cgg>Agg	p.R4241R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGACCTGCCGAGGCCTTCGA	0.562																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12721-12723)Cgg>Agg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							253.0	224.0	234.0					15																	28375390		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375390G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12721C>A	15.37:g.28375390G>T							p.R4241R	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	83	12829	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4241						Silent	SNP	ENST00000261609.7	37	c.12721C>A	CCDS10021.1																																																																																				0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	223	6	223	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43713293	43713293	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43713293C>A	ENST00000263801.3	-	20	4417	c.4165G>T	c.(4165-4167)Ggg>Tgg	p.G1389W	TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1394W|TP53BP1_ENST00000382039.3_Intron|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1394W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1389					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGAGCCTTCCCTCCCTGTCTG	0.567								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4165-4167)Ggg>Tgg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							126.0	106.0	113.0					15																	43713293		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43713293C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4165G>T	15.37:g.43713293C>A	ENSP00000263801:p.Gly1389Trp					TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1394W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1394W|TP53BP1_ENST00000382039.3_Intron	p.G1389W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	20	4417	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1389					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4165G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828979	0.71258	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000450115	T;T;T	0.06371	3.31;3.31;3.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.27053	0.805	0.48236	D	0.999612	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.01352	-1.1377	10	0.66056	D	0.02	-13.9664	17.7608	0.88464	0.0:1.0:0.0:0.0	.	1394;1389;1394;1394	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	1389;1394;1394	ENSP00000263801:G1389W;ENSP00000371475:G1394W;ENSP00000393497:G1394W	ENSP00000263801:G1389W	G	-	1	0	TP53BP1	41500585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.008000	0.49544	2.686000	0.91538	0.650000	0.86243	GGG		0.567	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	120	6	120	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43739618	43739618	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43739618G>T	ENST00000263801.3	-	13	3019	c.2767C>A	c.(2767-2769)Cca>Aca	p.P923T	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P928T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P928T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P928T|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	923					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATAAGAGGTGGGGTTGCACCA	0.363								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2767-2769)Cca>Aca	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							105.0	104.0	104.0					15																	43739618		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43739618G>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2767C>A	15.37:g.43739618G>T	ENSP00000263801:p.Pro923Thr					TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P928T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P928T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P928T	p.P923T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	13	3019	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	923					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2767C>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611233	0.87258	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000414758	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86460	0.5938	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.996;0.996	D	0.85709	0.1318	10	0.49607	T	0.09	-9.1167	19.1149	0.93334	0.0:0.0:1.0:0.0	.	928;923;928;928	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	T	923;928;928;928;67	ENSP00000263801:P923T;ENSP00000371475:P928T;ENSP00000371470:P928T;ENSP00000393497:P928T	ENSP00000263801:P923T	P	-	1	0	TP53BP1	41526910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.537000	0.82033	2.834000	0.97654	0.650000	0.86243	CCA		0.363	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	110	6	110	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43814445	43814445	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43814445C>A	ENST00000300231.5	+	4	1224	c.774C>A	c.(772-774)ccC>ccA	p.P258P	MAP1A_ENST00000399453.1_Silent_p.P258P|MAP1A_ENST00000382031.1_Silent_p.P496P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	258					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCCAATCCCACTGAGAAGA	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(1486-1488)ccC>ccA		microtubule-associated protein 1A	Estramustine(DB01196)						90.0	89.0	89.0					15																	43814445		1987	4146	6133	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43814445C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.774C>A	15.37:g.43814445C>A						MAP1A_ENST00000300231.5_Silent_p.P258P|MAP1A_ENST00000399453.1_Silent_p.P258P	p.P496P			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	1519	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	258			9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).		O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.1488C>A	CCDS42031.1																																																																																				0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		6	107	6	107	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48054506	48054506	+	Silent	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	216	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATTCCAAATGGATAAAAG	0.507																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(646-648)aaA>aaG		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							109.0	97.0	101.0					15																	48054506		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48054506A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.648A>G	15.37:g.48054506A>G						SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K	p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	8	1087	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	216			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.648A>G	CCDS32225.1																																																																																				0.507	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		3	79	3	79	---	---	---	---
NR2F2	7026	broad.mit.edu	37	15	96880728	96880728	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:96880728C>A	ENST00000394166.3	+	3	2511	c.1122C>A	c.(1120-1122)tcC>tcA	p.S374S	NR2F2_ENST00000394171.2_Silent_p.S221S|NR2F2_ENST00000421109.2_Silent_p.S241S|NR2F2_ENST00000453270.2_Silent_p.S221S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	374	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCACCGTCTCCTCCTCAGTCA	0.512																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(1120-1122)tcC>tcA		nuclear receptor subfamily 2, group F, member 2							166.0	153.0	157.0					15																	96880728		2197	4298	6495	SO:0001819	synonymous_variant	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96880728C>A	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.1122C>A	15.37:g.96880728C>A						NR2F2_ENST00000421109.2_Silent_p.S241S|NR2F2_ENST00000394171.2_Silent_p.S221S|NR2F2_ENST00000453270.2_Silent_p.S221S	p.S374S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		3	2511	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		374			Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Silent	SNP	ENST00000394166.3	37	c.1122C>A	CCDS10375.1																																																																																				0.512	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			8	203	8	203	---	---	---	---
VIMP	55829	broad.mit.edu	37	15	101816764	101816764	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:101816764G>T	ENST00000398226.3	-	2	225	c.193C>A	c.(193-195)Cga>Aga	p.R65R	VIMP_ENST00000526049.1_Silent_p.R65R|VIMP_ENST00000531964.1_Silent_p.R42R|VIMP_ENST00000537379.1_Silent_p.R65R			Q9BQE4	SELS_HUMAN	VCP-interacting membrane protein	65					cell redox homeostasis (GO:0045454)|cellular response to insulin stimulus (GO:0032869)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oxidative stress (GO:0034599)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of tumor necrosis factor production (GO:0032720)|regulation of gluconeogenesis (GO:0006111)|regulation of nitric oxide metabolic process (GO:0080164)|response to glucose (GO:0009749)|response to redox state (GO:0051775)|retrograde protein transport, ER to cytosol (GO:0030970)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|selenium binding (GO:0008430)										GCCGCAGCTCGGTCCAGCTGC	0.502																																						ENST00000398226.3																			0											c.(193-195)Cga>Aga		VCP-interacting membrane protein							31.0	37.0	35.0					15																	101816764		1915	4133	6048	SO:0001819	synonymous_variant	55829							g.chr15:101816764G>T	AF328864	CCDS53979.1	15q26.3	2012-10-02			ENSG00000131871	ENSG00000131871			30396	protein-coding gene	gene with protein product	"""selenoprotein S"""	607918				16227999, 16186510	Standard	NM_018445		Approved	SELS, MGC2553, SBBI8, AD-015, SEPS1	uc021sxu.1	Q9BQE4	OTTHUMG00000166441	ENST00000398226.3:c.193C>A	15.37:g.101816764G>T						VIMP_ENST00000531964.1_Silent_p.R42R|VIMP_ENST00000526049.1_Silent_p.R65R|VIMP_ENST00000537379.1_Silent_p.R65R	p.R65R							2	225	-								Q3B771|Q9P0I6	Silent	SNP	ENST00000398226.3	37	c.193C>A	CCDS53979.1																																																																																				0.502	VIMP-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389784.2	NM_018445		4	50	4	50	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11217672	11217672	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:11217672C>A	ENST00000409790.1	+	21	2572	c.2342C>A	c.(2341-2343)cCc>cAc	p.P781H	CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.P763H	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCGTCCAGCCCCCATTCCAAG	0.602																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2341-2343)cCc>cAc		C-type lectin domain family 16, member A							69.0	78.0	75.0					16																	11217672		2134	4240	6374	SO:0001583	missense	23274							g.chr16:11217672C>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2342C>A	16.37:g.11217672C>A	ENSP00000387122:p.Pro781His					CLEC16A_ENST00000409552.3_Missense_Mutation_p.P763H|CLEC16A_ENST00000465491.1_3'UTR	p.P781H	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			21	2572	+			781						Missense_Mutation	SNP	ENST00000409790.1	37	c.2342C>A	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043831|5.043831	0.93685|0.93685	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552|ENST00000428742	T|.	0.48522|.	0.81|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74543|0.74543	0.3730|0.3730	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.98|.	T|T	0.72510|0.72510	-0.4271|-0.4271	10|6	0.66056|.	D|.	0.02|.	-25.284|-25.284	18.5026|18.5026	0.90887|0.90887	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	781;763|.	Q2KHT3;Q2KHT3-2|.	CL16A_HUMAN;.|.	H|T	781;781;763|25	ENSP00000387122:P781H|.	ENSP00000386495:P763H|.	P|P	+|+	2|1	0|0	CLEC16A|CLEC16A	11125173|11125173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.679000|7.679000	0.84048|0.84048	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		6	89	6	89	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48232099	48232099	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:48232099C>A	ENST00000394747.1	-	15	2519	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	ABCC11_ENST00000394748.1_Missense_Mutation_p.G724W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G724W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G724W|ABCC11_ENST00000537808.1_Missense_Mutation_p.G724W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	724	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GCATATTTCCCCTTTTTCTGC	0.463																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2170-2172)Ggg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							217.0	197.0	204.0					16																	48232099		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48232099C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2170G>T	16.37:g.48232099C>A	ENSP00000378230:p.Gly724Trp					ABCC11_ENST00000394748.1_Missense_Mutation_p.G724W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G724W|ABCC11_ENST00000537808.1_Missense_Mutation_p.G724W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G724W	p.G724W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			15	2519	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	724			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2170G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253891	0.39896	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09	5.59	5.59	0.84812	ABC transporter-like (1);	0.128393	0.52532	D	0.000078	D	0.99363	0.9776	M	0.93638	3.44	0.49582	D	0.999801	D;D	0.89917	1.0;0.999	D;P	0.91635	0.999;0.86	D	0.98871	1.0766	10	0.66056	D	0.02	-22.2493	17.0828	0.86603	0.0:1.0:0.0:0.0	.	724;724	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	724	ENSP00000311326:G724W;ENSP00000349017:G724W;ENSP00000378231:G724W;ENSP00000378230:G724W;ENSP00000438530:G724W	ENSP00000311326:G724W	G	-	1	0	ABCC11	46789600	0.985000	0.35326	0.131000	0.22000	0.096000	0.18686	3.606000	0.54095	2.620000	0.88729	0.561000	0.74099	GGG		0.463	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		7	98	7	98	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	ENST00000300589.2	+	4	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	579	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1735-1737)gAc>gGc		nucleotide-binding oligomerization domain containing 2							51.0	37.0	42.0					16																	50745558		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745558A>G	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1736A>G	16.37:g.50745558A>G	ENSP00000300589:p.Asp579Gly						p.D579G	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1841	+		all_cancers(37;0.0156)	579			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1736A>G	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151963	0.57151	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.71222	-0.55	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000005	D	0.82462	0.5042	M	0.79805	2.47	0.58432	D	0.999999	P;D;P	0.67145	0.871;0.996;0.871	B;D;B	0.63283	0.354;0.913;0.354	D	0.85090	0.0951	10	0.72032	D	0.01	.	12.9381	0.58327	1.0:0.0:0.0:0.0	.	363;552;579	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	G	552;579	ENSP00000300589:D579G	ENSP00000300589:D579G	D	+	2	0	NOD2	49303059	1.000000	0.71417	0.313000	0.25210	0.391000	0.30476	5.501000	0.66950	1.946000	0.56461	0.459000	0.35465	GAC		0.607	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		6	35	6	35	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66426125	66426125	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:66426125C>A	ENST00000341529.3	+	7	1204	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	CDH5_ENST00000563425.2_Silent_p.P352P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	352	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TGAGCCCTCCCGCGGGAAACA	0.522																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1054-1056)ccC>ccA		cadherin 5, type 2 (vascular endothelium)							151.0	149.0	149.0					16																	66426125		2201	4300	6501	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426125C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1056C>A	16.37:g.66426125C>A						CDH5_ENST00000563425.2_Silent_p.P352P	p.P352P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1204	+		Ovarian(137;0.0955)	352			Cadherin 3.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1056C>A	CCDS10804.1																																																																																				0.522	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		6	222	6	222	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67576897	67576897	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:67576897C>A	ENST00000379312.3	+	13	2341	c.2220C>A	c.(2218-2220)ccC>ccA	p.P740P	FAM65A_ENST00000540839.3_Silent_p.P756P|FAM65A_ENST00000042381.4_Silent_p.P736P|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Silent_p.P750P|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Silent_p.P756P|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	740	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTAGGAAACCCCTCACAAGCC	0.602																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2266-2268)ccC>ccA		family with sequence similarity 65, member A							114.0	128.0	123.0					16																	67576897		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67576897C>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2220C>A	16.37:g.67576897C>A						FAM65A_ENST00000379312.3_Silent_p.P740P|FAM65A_ENST00000428437.2_Silent_p.P750P|FAM65A_ENST00000422602.2_Silent_p.P756P|FAM65A_ENST00000042381.4_Silent_p.P736P	p.P756P			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2488	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	740			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.2268C>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	8.339	0.828327	0.16749	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.52	-0.0634	0.13777	.	0.429556	0.27019	N	0.021327	T	0.18718	0.0449	.	.	.	0.21020	N	0.9998	.	.	.	.	.	.	T	0.18967	-1.0320	6	0.16896	T	0.51	-7.9689	4.7903	0.13245	0.0:0.4591:0.2946:0.2463	.	.	.	.	T	731	.	ENSP00000389456:P731T	P	+	1	0	FAM65A	66134398	0.000000	0.05858	0.096000	0.21009	0.352000	0.29268	0.300000	0.19156	0.052000	0.16007	-0.263000	0.10527	CCT		0.602	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		8	231	8	231	---	---	---	---
TIMM22	29928	broad.mit.edu	37	17	904323	904323	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:904323C>A	ENST00000327158.4	+	4	606	c.580C>A	c.(580-582)Cgg>Agg	p.R194R		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	194					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTATTACCTCCGGTGAGAGTA	0.532																																						ENST00000327158.4																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(580-582)Cgg>Agg		translocase of inner mitochondrial membrane 22 homolog (yeast)							229.0	212.0	218.0					17																	904323		2203	4300	6503	SO:0001819	synonymous_variant	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:904323C>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.580C>A	17.37:g.904323C>A							p.R194R	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	606	+								Q9NWI8	Silent	SNP	ENST00000327158.4	37	c.580C>A	CCDS32521.1																																																																																				0.532	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		5	163	5	163	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33904411	33904411	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:33904411G>T	ENST00000225873.4	-	2	933	c.326C>A	c.(325-327)cCa>cAa	p.P109Q	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	109					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCTGCTTTGGGAGACCAGC	0.438																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(325-327)cCa>cAa		peroxisomal biogenesis factor 12							129.0	146.0	140.0					17																	33904411		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904411G>T	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.326C>A	17.37:g.33904411G>T	ENSP00000225873:p.Pro109Gln						p.P109Q	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	933	-			109					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.326C>A	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639694	0.67244	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	T	0.81415	-1.49	5.46	5.46	0.80206	Pex, N-terminal (1);	0.231081	0.45606	D	0.000355	D	0.83027	0.5165	L	0.37630	1.12	0.52099	D	0.999941	D	0.57899	0.981	P	0.62885	0.908	T	0.77560	-0.2542	10	0.11794	T	0.64	-12.1965	18.3052	0.90177	0.0:0.0:1.0:0.0	.	109	O00623	PEX12_HUMAN	Q	109	ENSP00000225873:P109Q	ENSP00000225873:P109Q	P	-	2	0	PEX12	30928524	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.582000	0.53921	2.568000	0.86640	0.650000	0.86243	CCA		0.438	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		8	257	8	257	---	---	---	---
GJC1	10052	broad.mit.edu	37	17	42882007	42882007	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:42882007G>T	ENST00000426548.1	-	3	1448	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S	GJC1_ENST00000590758.1_Silent_p.S393S|GJC1_ENST00000592524.1_Silent_p.S393S|GJC1_ENST00000330514.4_Silent_p.S393S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	393					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAATCCAGACGGAGGTCTTCC	0.488																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(1177-1179)tcC>tcA		gap junction protein, gamma 1, 45kDa							114.0	109.0	111.0					17																	42882007		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882007G>T	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.1179C>A	17.37:g.42882007G>T						GJC1_ENST00000590758.1_Silent_p.S393S|GJC1_ENST00000592524.1_Silent_p.S393S|GJC1_ENST00000330514.4_Silent_p.S393S	p.S393S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	1448	-		Prostate(33;0.0959)	393					B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.1179C>A	CCDS11487.1																																																																																				0.488	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		6	110	6	110	---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48356659	48356659	+	Missense_Mutation	SNP	C	C	A	rs372827786		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:48356659C>A	ENST00000300433.3	+	6	580	c.470C>A	c.(469-471)cCg>cAg	p.P157Q	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Missense_Mutation_p.P157Q	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	157						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						ATTGACAACCCGGCCTTCTGA	0.592																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(469-471)cCg>cAg		transmembrane protein 92							79.0	86.0	84.0					17																	48356659		2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48356659C>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.470C>A	17.37:g.48356659C>A	ENSP00000300433:p.Pro157Gln					TMEM92_ENST00000507382.1_Missense_Mutation_p.P157Q	p.P157Q	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN			6	580	+			157					Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.470C>A	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.156213	0.78114	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.15372	2.43;2.43	4.53	3.57	0.40892	.	0.487586	0.17258	N	0.180896	T	0.33323	0.0859	L	0.60455	1.87	0.22305	N	0.99922	D	0.76494	0.999	D	0.70935	0.971	T	0.04333	-1.0959	10	0.59425	D	0.04	0.1559	8.6067	0.33778	0.0:0.895:0.0:0.105	.	157	Q6UXU6	TMM92_HUMAN	Q	157	ENSP00000300433:P157Q;ENSP00000425144:P157Q	ENSP00000300433:P157Q	P	+	2	0	TMEM92	45711658	0.010000	0.17322	0.315000	0.25238	0.733000	0.41908	0.718000	0.25866	1.144000	0.42321	-0.355000	0.07637	CCG		0.592	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		5	128	5	128	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3135567	3135567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	ENST00000356443.4	-	15	2520	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_ENST00000261606.7_Silent_p.V729V|MYOM1_ENST00000400569.3_Silent_p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	729	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2185-2187)gtG>gtT		myomesin 1							42.0	44.0	43.0					18																	3135567		1917	4126	6043	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3135567C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2187G>T	18.37:g.3135567C>A						MYOM1_ENST00000400569.3_Silent_p.V729V|MYOM1_ENST00000261606.7_Silent_p.V729V	p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			15	2520	-			729			Fibronectin type-III 2.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2187G>T	CCDS45824.1																																																																																				0.458	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		14	15	14	15	---	---	---	---
TPGS2	25941	broad.mit.edu	37	18	34385449	34385449	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:34385449C>A	ENST00000334295.4	-	4	697	c.270G>T	c.(268-270)ctG>ctT	p.L90L	TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000589049.1_Silent_p.L90L|TPGS2_ENST00000587129.1_Silent_p.L90L|TPGS2_ENST00000590842.1_Silent_p.L90L|TPGS2_ENST00000383056.3_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	90						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCATGCTTCCCAGTGGAATGA	0.453																																						ENST00000334295.4																			0											c.(268-270)ctG>ctT		tubulin polyglutamylase complex subunit 2							259.0	218.0	232.0					18																	34385449		2203	4300	6503	SO:0001819	synonymous_variant	25941					cytoplasm|microtubule		g.chr18:34385449C>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.270G>T	18.37:g.34385449C>A						TPGS2_ENST00000589049.1_Silent_p.L90L|TPGS2_ENST00000587129.1_Silent_p.L90L|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000590842.1_Silent_p.L90L	p.L90L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN			4	697	-			90					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Silent	SNP	ENST00000334295.4	37	c.270G>T	CCDS32817.1																																																																																				0.453	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		6	113	6	113	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1046282	1046282	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:1046282G>T	ENST00000263094.6	+	13	1730	c.1499G>T	c.(1498-1500)tGg>tTg	p.W500L	ABCA7_ENST00000433129.1_Missense_Mutation_p.W500L|ABCA7_ENST00000435683.2_Missense_Mutation_p.W362L|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	500					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTACGTGTGGGGCGGCTTC	0.692																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1498-1500)tGg>tTg		ATP-binding cassette, sub-family A (ABC1), member 7							111.0	119.0	116.0					19																	1046282		2203	4298	6501	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046282G>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1499G>T	19.37:g.1046282G>T	ENSP00000263094:p.Trp500Leu					ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W362L|ABCA7_ENST00000433129.1_Missense_Mutation_p.W500L	p.W500L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1730	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	500					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1499G>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	18.77	3.695394	0.68386	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97232	-4.3;-4.3	4.95	3.84	0.44239	.	.	.	.	.	D	0.97492	0.9179	L	0.61036	1.89	0.39538	D	0.968775	D;D	0.89917	1.0;0.987	D;P	0.97110	1.0;0.87	D	0.96301	0.9221	9	0.25106	T	0.35	.	12.426	0.55546	0.0:0.1709:0.8291:0.0	.	362;500	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	500	ENSP00000263094:W500L;ENSP00000414062:W500L	ENSP00000263094:W500L	W	+	2	0	ABCA7	997282	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	6.488000	0.73637	2.294000	0.77228	0.556000	0.70494	TGG		0.692	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	275	8	275	---	---	---	---
STX10	8677	broad.mit.edu	37	19	13260570	13260570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:13260570C>A	ENST00000587230.1	-	2	241	c.177G>T	c.(175-177)tgG>tgT	p.W59C	IER2_ENST00000588173.1_5'Flank|IER2_ENST00000292433.3_5'Flank|STX10_ENST00000242770.5_Missense_Mutation_p.W59C|STX10_ENST00000589083.1_Missense_Mutation_p.W59C|STX10_ENST00000343587.5_Missense_Mutation_p.W59C|IER2_ENST00000587885.1_5'Flank	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	59					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCGAGGTCCCACTCGATGC	0.652											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000589083.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6						c.(175-177)tgG>tgT		syntaxin 10							93.0	84.0	87.0					19																	13260570		2203	4300	6503	SO:0001583	missense	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13260570C>A	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.177G>T	19.37:g.13260570C>A	ENSP00000466298:p.Trp59Cys		OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	STX10_ENST00000587230.1_Missense_Mutation_p.W59C|STX10_ENST00000343587.5_Missense_Mutation_p.W59C|STX10_ENST00000242770.5_Missense_Mutation_p.W59C	p.W59C	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		2	229	-			59					A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	ENST00000587230.1	37	c.177G>T	CCDS32922.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727635	0.89390	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	4.3	4.3	0.51218	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.64402	U	0.000005	D	0.84889	0.5572	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87980	0.2742	9	0.54805	T	0.06	.	14.3407	0.66624	0.0:1.0:0.0:0.0	.	59	O60499	STX10_HUMAN	C	59	.	ENSP00000242770:W59C	W	-	3	0	STX10	13121570	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.088000	0.76901	2.236000	0.73375	0.563000	0.77884	TGG		0.652	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		5	58	5	58	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16631188	16631188	+	3'UTR	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:16631188G>T	ENST00000221671.3	+	0	2454				CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.R778S|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.R789S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GATCTGGAGCGGGAGTAGGAA	0.632																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2332-2334)Cgc>Agc		calcium homeostasis endoplasmic reticulum protein							118.0	130.0	126.0					19																	16631188		2069	4188	6257	SO:0001624	3_prime_UTR_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16631188G>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*324G>T	19.37:g.16631188G>T						C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R789S|CHERP_ENST00000544299.1_5'UTR	p.R778S	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			14	2483	-			778	R -> C (in Ref. 1; AAN77183).		Arg-rich.		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2332C>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224370	0.22457	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.40756	1.02;1.02	4.67	4.67	0.58626	.	.	.	.	.	T	0.37758	0.1015	L	0.59436	1.845	0.43025	D	0.994584	P	0.35242	0.492	B	0.32393	0.145	T	0.31696	-0.9934	9	0.40728	T	0.16	-16.5837	11.7645	0.51922	0.0:0.0:0.8239:0.1761	.	778	Q8IWX8	CHERP_HUMAN	S	778;789	ENSP00000439856:R778S;ENSP00000198939:R789S	ENSP00000198939:R789S	R	-	1	0	CHERP	16492188	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.959000	0.76031	2.139000	0.66308	0.561000	0.74099	CGC		0.632	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		5	151	5	151	---	---	---	---
FKBP8	23770	broad.mit.edu	37	19	18644141	18644141	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:18644141C>A	ENST00000596558.2	-	7	1068	c.959G>T	c.(958-960)gGg>gTg	p.G320V	AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000610101.1_Missense_Mutation_p.G161V|FKBP8_ENST00000222308.4_Missense_Mutation_p.G320V|FKBP8_ENST00000608443.1_Missense_Mutation_p.G321V|FKBP8_ENST00000453489.2_Missense_Mutation_p.G349V|FKBP8_ENST00000597960.3_Missense_Mutation_p.G321V|AC005387.3_ENST00000597837.2_RNA			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	320					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACTGTACTCCCCCTGCTGGGC	0.622																																						ENST00000608443.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(961-963)gGg>gTg		FK506 binding protein 8, 38kDa							58.0	42.0	47.0					19																	18644141		2203	4299	6502	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18644141C>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.959G>T	19.37:g.18644141C>A	ENSP00000472302:p.Gly320Val					FKBP8_ENST00000597960.3_Missense_Mutation_p.G321V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000222308.4_Missense_Mutation_p.G320V|FKBP8_ENST00000596558.2_Missense_Mutation_p.G320V|FKBP8_ENST00000610101.1_Missense_Mutation_p.G161V|FKBP8_ENST00000453489.2_Missense_Mutation_p.G349V	p.G321V			Q14318	FKBP8_HUMAN			7	1161	-								C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.962G>T		.	.	.	.	.	.	.	.	.	.	C	18.95	3.732380	0.69189	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.59638	0.25;0.25;0.25	4.86	4.86	0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108734	0.64402	D	0.000008	T	0.77438	0.4130	M	0.81942	2.565	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.903;1.0	D;D;P;D	0.83275	0.99;0.996;0.814;0.988	T	0.79948	-0.1588	10	0.56958	D	0.05	-28.6031	17.1536	0.86784	0.0:1.0:0.0:0.0	.	349;264;320;321	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	321;161;349	ENSP00000222308:G321V;ENSP00000441267:G161V;ENSP00000388891:G349V	ENSP00000222308:G321V	G	-	2	0	FKBP8	18505141	0.997000	0.39634	0.995000	0.50966	0.986000	0.74619	5.228000	0.65310	2.528000	0.85240	0.655000	0.94253	GGG		0.622	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		4	23	4	23	---	---	---	---
ZFP36	7538	broad.mit.edu	37	19	39899014	39899014	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:39899014C>A	ENST00000248673.3	+	2	714	c.656C>A	c.(655-657)cCa>cAa	p.P219Q	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.P225Q	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	219					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCAGCTCCCCACCACCACCT	0.697																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(673-675)cCa>cAa		ZFP36 ring finger protein							47.0	55.0	53.0					19																	39899014		2200	4297	6497	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39899014C>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.656C>A	19.37:g.39899014C>A	ENSP00000248673:p.Pro219Gln					ZFP36_ENST00000248673.3_Missense_Mutation_p.P219Q	p.P225Q			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	748	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		219					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.674C>A		.	.	.	.	.	.	.	.	.	.	C	17.32	3.358884	0.61403	.	.	ENSG00000128016	ENST00000248673	T	0.20738	2.05	4.35	3.3	0.37823	.	0.071790	0.64402	D	0.000020	T	0.30696	0.0773	L	0.50333	1.59	0.34754	D	0.732062	D	0.59357	0.985	P	0.56434	0.798	T	0.38779	-0.9645	10	0.27785	T	0.31	-8.2901	12.0675	0.53596	0.0:0.8247:0.1753:0.0	.	219	P26651	TTP_HUMAN	Q	219	ENSP00000248673:P219Q	ENSP00000248673:P219Q	P	+	2	0	ZFP36	44590854	0.330000	0.24705	0.898000	0.35279	0.829000	0.46940	2.094000	0.41719	1.051000	0.40369	0.442000	0.29010	CCA		0.697	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	150	6	150	---	---	---	---
ARHGEF1	9138	broad.mit.edu	37	19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	ENST00000354532.3	+	28	2887	c.2739A>T	c.(2737-2739)tgA>tgT	p.*913C	ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000599846.1_Nonstop_Mutation_p.*969C	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2905-2907)tgA>tgT		Rho guanine nucleotide exchange factor (GEF) 1							29.0	27.0	28.0					19																	42410938		2203	4300	6503	SO:0001578	stop_lost	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410938A>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2739A>T	19.37:g.42410938A>T	ENSP00000346532:p.*913Cysext*19					ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C	p.*969C			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	29	3032	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	0					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Nonstop_Mutation	SNP	ENST00000354532.3	37	c.2907A>T	CCDS12591.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.579|9.579	1.123113|1.123113	0.20959|0.20959	.|.	.|.	ENSG00000076928|ENSG00000076928	ENST00000378152|ENST00000354532;ENST00000347545;ENST00000337665	T|.	0.69685|.	-0.42|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.885835|.	0.09328|.	N|.	0.817303|.	T|.	0.37679|.	0.1012|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.45474|.	0.859|.	P|.	0.46885|.	0.53|.	T|.	0.20538|.	-1.0272|.	9|.	0.72032|.	D|.	0.01|.	-1.9559|-1.9559	9.7848|9.7848	0.40670|0.40670	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	841|.	Q6NX52|.	.|.	W|C	841|913;880;928	ENSP00000367394:R841W|.	ENSP00000367394:R841W|.	R|X	+|+	1|3	2|0	ARHGEF1|ARHGEF1	47102778|47102778	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.417000|0.417000	0.31264|0.31264	2.019000|2.019000	0.41001|0.41001	1.624000|1.624000	0.50355|0.50355	0.397000|0.397000	0.26171|0.26171	AGG|TGA		0.657	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		9	21	9	21	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48646816	48646816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:48646816C>A	ENST00000263274.7	-	11	1317	c.898G>T	c.(898-900)Gag>Tag	p.E300*	LIG1_ENST00000536218.1_Nonsense_Mutation_p.E232*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.E269*|CTC-453G23.4_ENST00000594589.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	300					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GACACCTCCTCGATCTTCTCA	0.597								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(898-900)Gag>Tag	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						114.0	116.0	116.0					19																	48646816		2203	4300	6503	SO:0001587	stop_gained	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48646816C>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.898G>T	19.37:g.48646816C>A	ENSP00000263274:p.Glu300*					LIG1_ENST00000536218.1_Nonsense_Mutation_p.E232*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.E269*	p.E300*	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	11	1317	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	300					B2RAI8|Q2TB12|Q32P23	Nonsense_Mutation	SNP	ENST00000263274.7	37	c.898G>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559020	0.97663	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-30.9983	15.2593	0.73610	0.0:1.0:0.0:0.0	.	.	.	.	X	300;331;269;232;268	.	ENSP00000263274:E300X	E	-	1	0	LIG1	53338628	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.084000	0.71335	2.369000	0.80426	0.655000	0.94253	GAG		0.597	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		5	130	5	130	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53573193	53573193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53573193C>A	ENST00000429604.1	-	7	1009	c.594G>T	c.(592-594)gaG>gaT	p.E198D	ZNF160_ENST00000599056.1_Missense_Mutation_p.E198D|ZNF160_ENST00000418871.1_Missense_Mutation_p.E198D|ZNF160_ENST00000601421.1_Missense_Mutation_p.E162D	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	198					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTTTCCCCTCACCTTGAA	0.413																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(484-486)gaG>gaT		zinc finger protein 160							178.0	156.0	163.0					19																	53573193		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573193C>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.594G>T	19.37:g.53573193C>A	ENSP00000406201:p.Glu198Asp					ZNF160_ENST00000418871.1_Missense_Mutation_p.E198D|ZNF160_ENST00000599056.1_Missense_Mutation_p.E198D|ZNF160_ENST00000429604.1_Missense_Mutation_p.E198D	p.E162D			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1362	-			198					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.486G>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107742	0.08780	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07800	3.16;3.16	2.39	-1.25	0.09405	.	.	.	.	.	T	0.04770	0.0129	L	0.37697	1.125	0.09310	N	1	B	0.34015	0.435	B	0.29598	0.104	T	0.37103	-0.9720	9	0.34782	T	0.22	.	0.3546	0.00355	0.2053:0.2878:0.2095:0.2974	.	198	Q9HCG1	ZN160_HUMAN	D	198	ENSP00000406201:E198D;ENSP00000409597:E198D	ENSP00000409597:E198D	E	-	3	2	ZNF160	58265005	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.364000	0.02590	-0.209000	0.10156	-0.340000	0.08031	GAG		0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		6	144	6	144	---	---	---	---
PRPF31	26121	broad.mit.edu	37	19	54625942	54625942	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:54625942C>A	ENST00000321030.4	+	5	738	c.389C>A	c.(388-390)cCc>cAc	p.P130H	PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130H|PRPF31_ENST00000391755.1_Missense_Mutation_p.P130H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	130					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTTGGTCCCCAATGCACTG	0.572																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(388-390)cCc>cAc		pre-mRNA processing factor 31							200.0	173.0	182.0					19																	54625942		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54625942C>A	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.389C>A	19.37:g.54625942C>A	ENSP00000324122:p.Pro130His					PRPF31_ENST00000391755.1_Missense_Mutation_p.P130H|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130H	p.P130H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			5	738	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		130					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.389C>A	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392439	0.62066	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.13	5.13	0.70059	NOSIC (2);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	L	0.52905	1.665	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67231	0.95;0.911	D	0.84918	0.0852	10	0.22706	T	0.39	-38.5235	17.7314	0.88378	0.0:1.0:0.0:0.0	.	130;130	E7ESA8;Q8WWY3	.;PRP31_HUMAN	H	130	ENSP00000324122:P130H;ENSP00000395894:P130H;ENSP00000405166:P130H;ENSP00000408980:P130H;ENSP00000395089:P130H;ENSP00000375635:P130H	ENSP00000263436:P130H	P	+	2	0	PRPF31	59317754	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.207000	0.65197	2.555000	0.86185	0.655000	0.94253	CCC		0.572	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			7	199	7	199	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	ENST00000358771.4	+	3	796	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	215	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(643-645)gTg>gGg		signal-regulatory protein alpha							105.0	92.0	96.0					20																	1902248		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902248T>G	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.644T>G	20.37:g.1902248T>G	ENSP00000351621:p.Val215Gly					SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G	p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	796	+			215			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.644T>G	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291044	0.40494	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.03772	3.81;3.81;3.81	4.86	4.86	0.63082	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.118971	0.37437	N	0.002087	T	0.26159	0.0638	M	0.90977	3.165	0.48395	D	0.999643	D;P;D	0.71674	0.988;0.913;0.998	D;D;D	0.85130	0.995;0.935;0.997	T	0.04165	-1.0972	10	0.87932	D	0	.	11.0842	0.48078	0.0:0.0:0.0:1.0	.	195;215;215	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	G	215	ENSP00000382941:V215G;ENSP00000348307:V215G;ENSP00000351621:V215G	ENSP00000348307:V215G	V	+	2	0	SIRPA	1850248	0.994000	0.37717	0.265000	0.24526	0.129000	0.20672	2.575000	0.46025	2.195000	0.70347	0.529000	0.55759	GTG		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		7	103	7	103	---	---	---	---
GMEB2	26205	broad.mit.edu	37	20	62229167	62229167	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:62229167C>A	ENST00000266068.1	-	4	882	c.404G>T	c.(403-405)gGg>gTg	p.G135V	GMEB2_ENST00000370077.1_Missense_Mutation_p.G135V|GMEB2_ENST00000370069.1_Missense_Mutation_p.G84V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	135	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGTGGACTTCCCGGCCAGGTG	0.612																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(403-405)gGg>gTg		glucocorticoid modulatory element binding protein 2							134.0	104.0	114.0					20																	62229167		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62229167C>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.404G>T	20.37:g.62229167C>A	ENSP00000266068:p.Gly135Val					GMEB2_ENST00000370069.1_Missense_Mutation_p.G84V|GMEB2_ENST00000370077.1_Missense_Mutation_p.G135V	p.G135V			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		4	882	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		135			SAND.		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.404G>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911167	0.72983	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.77229	-1.08;-1.08;-1.08	5.02	5.02	0.67125	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92550	0.6049	10	0.87932	D	0	1.5484	18.3277	0.90260	0.0:1.0:0.0:0.0	.	135	Q9UKD1	GMEB2_HUMAN	V	84;135;135	ENSP00000359086:G84V;ENSP00000359094:G135V;ENSP00000266068:G135V	ENSP00000266068:G135V	G	-	2	0	GMEB2	61699611	1.000000	0.71417	0.999000	0.59377	0.339000	0.28857	7.621000	0.83083	2.338000	0.79540	0.561000	0.74099	GGG		0.612	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		5	76	5	76	---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24129387	24129387	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr22:24129387G>T	ENST00000263121.7	+	1	227	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	SMARCB1_ENST00000407082.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000407422.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000344921.6_Missense_Mutation_p.G11W	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	11					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|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 transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CAAGACCTTCGGGCAGAAGCC	0.716			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		2	Unknown(2)	p.?(2)	soft_tissue(2)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(31-33)Ggg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							45.0	51.0	49.0					22																	24129387		2202	4300	6502	SO:0001583	missense	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24129387G>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.31G>T	22.37:g.24129387G>T	ENSP00000263121:p.Gly11Trp					SMARCB1_ENST00000407422.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000263121.7_Missense_Mutation_p.G11W|SMARCB1_ENST00000407082.3_Missense_Mutation_p.G11W	p.G11W			Q12824	SNF5_HUMAN			1	238	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	11					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.31G>T	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746590	0.89663	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	3.49	2.48	0.30137	.	0.053193	0.85682	D	0.000000	D	0.95771	0.8624	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.998	D	0.95310	0.8411	10	0.87932	D	0	-33.3969	10.4337	0.44421	0.0992:0.0:0.9008:0.0	.	11;11;11;11;11;11	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	W	11	ENSP00000388489:G11W;ENSP00000340883:G11W;ENSP00000263121:G11W;ENSP00000383984:G11W;ENSP00000385226:G11W	ENSP00000263121:G11W	G	+	1	0	SMARCB1	22459387	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.456000	0.90359	1.050000	0.40346	0.478000	0.44815	GGG		0.716	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		5	85	5	85	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32275670	32275670	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr22:32275670C>A	ENST00000382112.3	+	37	4008	c.3938C>A	c.(3937-3939)tCc>tAc	p.S1313Y	DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P1208T|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1300Y|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1222Y|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000539165.1_Missense_Mutation_p.S139Y	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1322					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGGCCAGCCTCCTATGCAAGT	0.572																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3964-3966)tCc>tAc		DEP domain containing 5							51.0	53.0	52.0					22																	32275670		2007	4169	6176	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32275670C>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3938C>A	22.37:g.32275670C>A	ENSP00000371546:p.Ser1313Tyr					DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1300Y|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1313Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P1208T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000539165.1_Missense_Mutation_p.S139Y|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1222Y	p.S1322Y			O75140	DEPD5_HUMAN			38	4107	+			1291					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3965C>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.44|18.44	3.623410|3.623410	0.66901|0.66901	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000382105|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T|T;T;T;T;T;T;T	0.32023|0.34859	1.47|1.34;1.77;1.77;1.73;1.77;1.73;1.77	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57961|0.57961	0.2089|0.2089	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;0.999;1.0;0.999;0.998;0.998	.|D;D;D;D;D;D	.|0.91635	.|0.993;0.996;0.999;0.996;0.991;0.991	T|T	0.55471|0.55471	-0.8136|-0.8136	7|10	0.87932|0.54805	D|T	0|0.06	.|.	18.8724|18.8724	0.92320|0.92320	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1322;1222;708;1300;1313;1291	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	T|Y	1208|1222;1300;1291;1222;1322;1313;1322;1291;139	ENSP00000371539:P1208T|ENSP00000440210:S1222Y;ENSP00000266091:S1300Y;ENSP00000383108:S1291Y;ENSP00000383105:S1322Y;ENSP00000371546:S1313Y;ENSP00000371545:S1322Y;ENSP00000383107:S1291Y	ENSP00000371539:P1208T|ENSP00000266091:S1300Y	P|S	+|+	1|2	0|0	DEPDC5|DEPDC5	30605670|30605670	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.913000|0.913000	0.54294|0.54294	7.443000|7.443000	0.80521|0.80521	2.704000|2.704000	0.92352|0.92352	0.651000|0.651000	0.88453|0.88453	CCT|TCC		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	57	5	57	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071294	73071294	+	lincRNA	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:73071294C>A	ENST00000429829.1	-	0	1294					NR_001564.2				X inactive specific transcript (non-protein coding)																		GTGGCCTTCCCGCCACTTGAA	0.537																																						ENST00000429829.1																			0																				283.0	255.0	264.0					X																	73071294		876	1991	2867			7503							g.chrX:73071294C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071294C>A								NR_001564.2						0	1294	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.537	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		6	145	6	145	---	---	---	---
PGK1	5230	broad.mit.edu	37	X	77369512	77369512	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:77369512G>T	ENST00000373316.4	+	4	439		c.e4-1		PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CCTCTTCTCAGGGATGTTCTG	0.502																																						ENST00000373316.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.e4-1		phosphoglycerate kinase 1							119.0	121.0	120.0					X																	77369512		2203	4297	6500	SO:0001630	splice_region_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369512G>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.273-1G>T	X.37:g.77369512G>T						PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site		NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			4	439	+								A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Splice_Site	SNP	ENST00000373316.4	37		CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	13.24	2.176662	0.38413	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	.	.	.	4.88	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7225	0.51691	0.0884:0.0:0.9116:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGK1	77256168	1.000000	0.71417	0.981000	0.43875	0.488000	0.33401	9.214000	0.95140	0.960000	0.38005	0.591000	0.81541	.		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		Intron	6	130	6	130	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494804	134494804	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:134494804C>A	ENST00000339249.4	+	5	1500	c.1360C>A	c.(1360-1362)Cag>Aag	p.Q454K		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	454					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)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACTTTGCACCAGAGAACGCA	0.368																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(1360-1362)Cag>Aag		zinc finger protein 449							95.0	96.0	95.0					X																	134494804		2203	4299	6502	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494804C>A	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1360C>A	X.37:g.134494804C>A	ENSP00000339585:p.Gln454Lys						p.Q454K	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			5	1500	+	Acute lymphoblastic leukemia(192;6.56e-05)		454					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.1360C>A	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799525	0.50208	.	.	ENSG00000173275	ENST00000339249	T	0.16196	2.36	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000667	T	0.09862	0.0242	N	0.03903	-0.33	0.80722	D	1	P	0.43231	0.801	B	0.41813	0.367	T	0.25257	-1.0137	10	0.72032	D	0.01	.	14.0326	0.64624	0.0:1.0:0.0:0.0	.	454	Q6P9G9	ZN449_HUMAN	K	454	ENSP00000339585:Q454K	ENSP00000339585:Q454K	Q	+	1	0	ZNF449	134322470	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.314000	0.33597	2.275000	0.75901	0.529000	0.55759	CAG		0.368	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		5	80	5	80	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	ENST00000257665.5	-	9	1538_1539	c.1539_1540insA	c.(1537-1542)ctagacfs	p.D514fs	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000453279.2_Frame_Shift_Ins_p.D272fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	514	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTAAGTCTAGGTCCTCGG	0.51																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(811-816)ctagacfs		POM121 transmembrane nucleoporin C																																				SO:0001589	frameshift_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75053866_75053867insT		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1540dupA	7.37:g.75053867_75053867dupT	ENSP00000257665:p.Asp514fs					POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Frame_Shift_Ins_p.D514fs	p.D272fs	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN			11	1677_1678	-			514			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	37	c.813_814insA																																																																																					0.510	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		102	194	102	194	---	---	---	---
