#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
CDA	978	broad.mit.edu	37	1	20944980	20944980	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:20944980G>A	ENST00000375071.3	+	4	542	c.360G>A	c.(358-360)ccG>ccA	p.P120P	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	120					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|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)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGACCAAGCCGGATGGTACGT	0.587																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(358-360)ccG>ccA		Homo sapiens cytidine deaminase (CDA), mRNA.	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						95.0	76.0	82.0					1																	20944980		2203	4300	6503	SO:0001819	synonymous_variant	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20944980G>A	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.360G>A	1.37:g.20944980G>A						CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	p.P120P	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	3	539	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	120						Silent	SNP	ENST00000375071.3	37	c.360G>A	CCDS210.1																																																																																				0.587	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785	
GRIK3	2899	broad.mit.edu	37	1	37356675	37356675	+	Silent	SNP	G	G	A	rs150456185	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:37356675G>A	ENST00000373091.3	-	2	154	c.138C>T	c.(136-138)gaC>gaT	p.D46D	GRIK3_ENST00000373093.4_Silent_p.D46D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	46					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGTTGGGGCCGTCCGCATACT	0.507																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(136-138)gaC>gaT		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)	A		0,4406		0,0,2203	222.0	204.0	210.0		138	-8.2	0.1	1	dbSNP_134	210	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRIK3	NM_000831.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		46/920	37356675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356675G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.138C>T	1.37:g.37356675G>A						GRIK3_uc001cba.1_Silent_p.D46D	p.D46D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			1	273	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	46					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.138C>T	CCDS416.1																																																																																				0.507	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
PTPRF	5792	broad.mit.edu	37	1	44086251	44086251	+	Splice_Site	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:44086251G>A	ENST00000359947.4	+	31	5704		c.e31+1		PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site|PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGATGCCCGGGTGAGTGAGTG	0.547																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.e31+1		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							185.0	152.0	163.0					1																	44086251		2203	4300	6503	SO:0001630	splice_region_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086251G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5364+1G>A	1.37:g.44086251G>A						PTPRF_uc001cjs.3_Splice_Site_p.R1779_splice|PTPRF_uc001cju.3_Splice_Site_p.R1177_splice|PTPRF_uc009vwt.3_Splice_Site_p.R1348_splice|PTPRF_uc001cjv.3_Splice_Site_p.R1259_splice|PTPRF_uc001cjw.3_Splice_Site_p.R1014_splice	p.R1788_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN			31	5704	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1788			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Splice_Site	SNP	ENST00000359947.4	37	c.5364_splice	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308165	0.81247	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000412568;ENST00000429895;ENST00000414879;ENST00000422171;ENST00000372407	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6545	0.95831	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRF	43858838	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.807000	0.99171	2.816000	0.96949	0.563000	0.77884	.		0.547	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		Intron
NEGR1	257194	broad.mit.edu	37	1	72058647	72058647	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:72058647A>G	ENST00000357731.5	-	6	1032	c.793T>C	c.(793-795)Ttc>Ctc	p.F265L	NEGR1_ENST00000306821.3_Missense_Mutation_p.F137L|NEGR1_ENST00000434200.1_Missense_Mutation_p.F219L	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	265	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGGCCATTGAAGAGCCTAGAA	0.373																																						uc001dfw.3																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(793-795)Ttc>Ctc		Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.							74.0	73.0	73.0					1																	72058647		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72058647A>G	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.793T>C	1.37:g.72058647A>G	ENSP00000350364:p.Phe265Leu					NEGR1_uc001dfv.3_Missense_Mutation_p.F137L|NEGR1_uc010oqs.2_Missense_Mutation_p.F221L	p.F265L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	5	1021	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	265			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.793T>C	CCDS661.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.316950	0.23908	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.66099	-0.19;-0.19;-0.19	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.249150	0.38436	N	0.001697	T	0.21347	0.0514	N	0.05414	-0.055	0.34993	D	0.755251	B;B	0.12013	0.001;0.005	B;B	0.19666	0.012;0.026	T	0.13442	-1.0509	10	0.16896	T	0.51	-12.6237	9.7175	0.40283	0.7419:0.0:0.0:0.2581	.	219;265	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	L	265;137;219	ENSP00000350364:F265L;ENSP00000305938:F137L;ENSP00000413294:F219L	ENSP00000305938:F137L	F	-	1	0	NEGR1	71831235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.111000	0.64628	2.225000	0.72522	0.533000	0.62120	TTC		0.373	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808	
COL24A1	255631	broad.mit.edu	37	1	86282552	86282552	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:86282552delT	ENST00000370571.2	-	47	4236	c.3870delA	c.(3868-3870)aaafs	p.K1290fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.K1290fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1290	Collagen-like 14.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTATGCCTTTTGGCCCAA	0.388																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3868-3870)aaafs		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							134.0	130.0	131.0					1																	86282552		1847	4093	5940	SO:0001589	frameshift_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86282552delT	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3870delA	1.37:g.86282552delT	ENSP00000359603:p.Lys1290fs					COL24A1_uc001dli.3_Frame_Shift_Del_p.K426fs|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Frame_Shift_Del_p.K590fs|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.K1290fs	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	46	3945	-			1290			Collagen-like 14.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Frame_Shift_Del	DEL	ENST00000370571.2	37	c.3870delA	CCDS41353.1																																																																																				0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG	rs372937970	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:89448604_89448605insGG	ENST00000321792.5	-	2	1332_1333	c.905_906insCC	c.(904-906)ccafs	p.P302fs	RBMXL1_ENST00000399794.2_Frame_Shift_Ins_p.P302fs|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CACCATAAGATGGCGGGGGCCC	0.475																																						uc021opo.1																			0											c.(904-906)ccafs		Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	494115						nucleotide binding|RNA binding	g.chr1:89448604_89448605insGG	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.904_905dupCC	1.37:g.89448605_89448606dupGG	ENSP00000318415:p.Pro302fs					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Frame_Shift_Ins_p.P302fs|RBMXL1_uc001dms.3_Frame_Shift_Ins_p.P302fs	p.P302fs	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN			0	905_906	-			302			Ser-rich.			Frame_Shift_Ins	INS	ENST00000321792.5	37	c.905_906insCC	CCDS716.1																																																																																				0.475	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610	
HFM1	164045	broad.mit.edu	37	1	91740328	91740328	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:91740328C>T	ENST00000370425.3	-	33	3725	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	HFM1_ENST00000294696.5_Silent_p.E441E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.E888E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1209					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAACCAAACTCTTTAAGGT	0.299																																						uc001doa.4																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3625-3627)gaG>gaA		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							68.0	72.0	71.0					1																	91740328		2203	4299	6502	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91740328C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3627G>A	1.37:g.91740328C>T						HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.E888E|HFM1_uc001dob.4_Silent_p.E397E|HFM1_uc010osv.1_Silent_p.E893E	p.E1209E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	32	3726	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1209					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.3627G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	5.134	0.210279	0.09757	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.29	-1.04	0.10068	.	.	.	.	.	T	0.22820	0.0551	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	.	1.2195	0.01921	0.1535:0.2608:0.1506:0.4351	.	.	.	.	N	421	.	.	S	-	2	0	HFM1	91512916	0.447000	0.25673	0.970000	0.41538	0.736000	0.42039	-0.787000	0.04618	-0.047000	0.13423	0.460000	0.39030	AGT		0.299	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
FAM102B	284611	broad.mit.edu	37	1	109167309	109167309	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:109167309T>C	ENST00000370035.3	+	6	835	c.495T>C	c.(493-495)tcT>tcC	p.S165S	FAM102B_ENST00000405454.1_Silent_p.S165S	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	165										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CTGGTGAATCTGAATCTTTGC	0.403																																						uc010ouy.2																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(493-495)tcT>tcC		Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.							171.0	172.0	172.0					1																	109167309		2203	4300	6503	SO:0001819	synonymous_variant	284611							g.chr1:109167309T>C	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.495T>C	1.37:g.109167309T>C							p.S165S	NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	5	575	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	165					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Silent	SNP	ENST00000370035.3	37	c.495T>C	CCDS30786.2																																																																																				0.403	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883	
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	109						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517																																						uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(325-327)Cta>Tta		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001819	synonymous_variant	100132406							g.chr1:145296403C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.325C>T	1.37:g.145296403C>T						NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	p.L109L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	360	+	all_hematologic(923;0.032)		109					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.325C>T	CCDS53355.1																																																																																				0.517	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525																																						uc001ezs.1																			1	Substitution - Missense(1)	p.R432K(2)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1294-1299)agacaafs		Homo sapiens repetin (RPTN), mRNA.																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128277_152128280delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295_1298delGACA	1.37:g.152128285_152128288delTGTC	ENSP00000317895:p.Arg432fs						p.R432fs	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			2	1360_1363	-			432			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1295_1298delGACA	CCDS41397.1																																																																																				0.525	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
FLG	2312	broad.mit.edu	37	1	152282565	152282565	+	Missense_Mutation	SNP	G	G	C	rs370333585		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152282565G>C	ENST00000368799.1	-	3	4832	c.4797C>G	c.(4795-4797)gaC>gaG	p.D1599E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1599	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTCCCTGTCCT	0.592									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4795-4797)gaC>gaG		Homo sapiens filaggrin (FLG), mRNA.		G	GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	147.0	156.0	153.0		4797	-2.1	0.0	1		153	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	45	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	1599/4062	152282565	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282565G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4797C>G	1.37:g.152282565G>C	ENSP00000357789:p.Asp1599Glu						p.D1599E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4833	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1599			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4797C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520387	0.27211	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.27890	1.64	3.15	-2.09	0.07232	.	.	.	.	.	T	0.08044	0.0201	M	0.64404	1.975	0.09310	N	1	P	0.42735	0.788	B	0.41202	0.35	T	0.25293	-1.0136	9	0.08837	T	0.75	.	1.999	0.03463	0.1284:0.3614:0.3264:0.1838	.	1599	P20930	FILA_HUMAN	E	1599	ENSP00000357789:D1599E	ENSP00000357789:D1599E	D	-	3	2	FLG	150549189	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	-1.006000	0.03671	-0.571000	0.06014	-0.494000	0.04653	GAC		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
HDGF	3068	broad.mit.edu	37	1	156713958	156713958	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:156713958C>T	ENST00000357325.5	-	4	800	c.486G>A	c.(484-486)ctG>ctA	p.L162L	HDGF_ENST00000368206.5_Silent_p.L178L|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Silent_p.L155L|HDGF_ENST00000416666.2_Silent_p.L130L|HDGF_ENST00000537739.1_Silent_p.L162L	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	162	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGTTACCTCCAGCAAGTCCC	0.612																																						uc001fpy.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(484-486)ctG>ctA		Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.							232.0	197.0	209.0					1																	156713958		2203	4300	6503	SO:0001819	synonymous_variant	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156713958C>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.486G>A	1.37:g.156713958C>T						HDGF_uc009wsd.3_Silent_p.L130L|HDGF_uc001fpz.4_Silent_p.L155L|HDGF_uc009wse.3_Silent_p.L178L|HDGF_uc010phr.2_Silent_p.L185L|HDGF_uc009wsf.3_Silent_p.L130L	p.L162L	NM_004494	NP_004485	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	3	808	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	162			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Silent	SNP	ENST00000357325.5	37	c.486G>A	CCDS1156.1																																																																																				0.612	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494	
PTGS2	5743	broad.mit.edu	37	1	186645642	186645642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:186645642C>T	ENST00000367468.5	-	7	1063	c.927G>A	c.(925-927)tgG>tgA	p.W309*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	309					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GCTCATCACCCCATTCAGGAT	0.448																																						uc001gsb.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(925-927)tgG>tgA		Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						155.0	150.0	152.0					1																	186645642		2203	4300	6503	SO:0001587	stop_gained	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645642C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.927G>A	1.37:g.186645642C>T	ENSP00000356438:p.Trp309*					PTGS2_uc009wyo.3_Nonsense_Mutation_p.W156*	p.W309*	NM_000963	NP_000954	P35354	PGH2_HUMAN			6	1064	-			309					A8K802|Q16876	Nonsense_Mutation	SNP	ENST00000367468.5	37	c.927G>A	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	38	7.116720	0.98074	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9713	19.4407	0.94820	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	ENSP00000356438:W309X	W	-	3	0	PTGS2	184912265	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.627000	0.83176	2.586000	0.87340	0.650000	0.86243	TGG		0.448	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963	
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.2																			1	Deletion - In frame(1)	p.E716delE(2)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gaggct>gct		Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	p.E716del	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	12	2800_2802	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
OR6F1	343169	broad.mit.edu	37	1	247875393	247875393	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:247875393A>C	ENST00000302084.2	-	1	712	c.665T>G	c.(664-666)aTc>aGc	p.I222S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGGTGCTGATGATGTACAC	0.532																																						uc001idj.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(664-666)aTc>aGc		Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.							130.0	114.0	120.0					1																	247875393		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875393A>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.665T>G	1.37:g.247875393A>C	ENSP00000305640:p.Ile222Ser						p.I222S	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	665	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		222					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.665T>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	A	9.427	1.084588	0.20309	.	.	ENSG00000169214	ENST00000302084	T	0.00202	8.56	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000449	T	0.00580	0.0019	M	0.85099	2.735	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29822	-0.9999	10	0.87932	D	0	-28.5269	11.6743	0.51422	1.0:0.0:0.0:0.0	.	222	Q8NGZ6	OR6F1_HUMAN	S	222	ENSP00000305640:I222S	ENSP00000305640:I222S	I	-	2	0	OR6F1	245942016	0.001000	0.12720	0.031000	0.17742	0.026000	0.11368	0.828000	0.27435	1.672000	0.50884	0.482000	0.46254	ATC		0.532	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286	
TET1	80312	broad.mit.edu	37	10	70332622	70332622	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:70332622A>G	ENST00000373644.4	+	2	736	c.527A>G	c.(526-528)cAa>cGa	p.Q176R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	176					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTGGTGTACAAAATCCCTCT	0.433																																						uc001jok.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(526-528)cAa>cGa		Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.							67.0	68.0	68.0					10																	70332622		2202	4300	6502	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332622A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.527A>G	10.37:g.70332622A>G	ENSP00000362748:p.Gln176Arg						p.Q176R	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			1	1032	+			176					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.527A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	7.799	0.713179	0.15306	.	.	ENSG00000138336	ENST00000373644	T	0.08458	3.09	5.13	2.48	0.30137	.	0.396358	0.19121	N	0.122170	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	P	0.47409	0.895	P	0.47044	0.535	T	0.17561	-1.0365	10	0.49607	T	0.09	.	6.9935	0.24767	0.528:0.3823:0.0897:0.0	.	176	Q8NFU7	TET1_HUMAN	R	176	ENSP00000362748:Q176R	ENSP00000362748:Q176R	Q	+	2	0	TET1	70002628	0.009000	0.17119	0.165000	0.22776	0.008000	0.06430	2.217000	0.42880	0.737000	0.32582	0.460000	0.39030	CAA		0.433	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
ATRNL1	26033	broad.mit.edu	37	10	117061383	117061383	+	Missense_Mutation	SNP	C	C	T	rs140372621		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:117061383C>T	ENST00000355044.3	+	17	2774	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	883					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCAAAATGCGAGGCCGTGC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17189	0.0		0.0	False		,,,				2504	0.0					uc001lcg.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2647-2649)gCg>gTg		Homo sapiens attractin-like 1 (ATRNL1), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	133.0	100.0	111.0		2648	4.5	1.0	10	dbSNP_134	111	0,8600		0,0,4300	no	missense	ATRNL1	NM_207303.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	883/1380	117061383	1,13005	2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117061383C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2648C>T	10.37:g.117061383C>T	ENSP00000347152:p.Ala883Val					ATRNL1_uc010qsm.2_Missense_Mutation_p.A58V|ATRNL1_uc010qsn.2_Non-coding_Transcript	p.A883V	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	16	3034	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	883					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2648C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528344	0.44969	2.27E-4	0.0	ENSG00000107518	ENST00000355044	T	0.14144	2.53	5.41	4.51	0.55191	.	0.209770	0.50627	D	0.000116	T	0.09949	0.0244	N	0.24115	0.695	0.80722	D	1	B	0.25312	0.123	B	0.12837	0.008	T	0.13335	-1.0513	10	0.30078	T	0.28	-2.6064	14.1003	0.65051	0.0:0.9282:0.0:0.0718	.	883	Q5VV63	ATRN1_HUMAN	V	883	ENSP00000347152:A883V	ENSP00000347152:A883V	A	+	2	0	ATRNL1	117051373	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	5.999000	0.70665	1.295000	0.44724	-0.136000	0.14681	GCG		0.378	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
HSPA12A	259217	broad.mit.edu	37	10	118434624	118434624	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:118434624C>T	ENST00000369209.3	-	12	1800	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	566						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCAAAGACGTCGGTGCACCAC	0.622																																						uc001lct.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1696-1698)Gac>Aac		Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.							49.0	55.0	53.0					10																	118434624		2126	4226	6352	SO:0001583	missense	259217						ATP binding	g.chr10:118434624C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1696G>A	10.37:g.118434624C>T	ENSP00000358211:p.Asp566Asn					HSPA12A_uc001lcu.3_Missense_Mutation_p.D483N	p.D566N	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	11	1801	-			566						Missense_Mutation	SNP	ENST00000369209.3	37	c.1696G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210504	0.79240	.	.	ENSG00000165868	ENST00000369209	T	0.48522	0.81	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.52126	1.63	0.80722	D	1	P	0.43169	0.8	P	0.49047	0.599	T	0.39057	-0.9632	10	0.26408	T	0.33	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	566	O43301	HS12A_HUMAN	N	566	ENSP00000358211:D566N	ENSP00000358211:D566N	D	-	1	0	HSPA12A	118424614	1.000000	0.71417	0.948000	0.38648	0.648000	0.38561	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GAC		0.622	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	
TRIM21	6737	broad.mit.edu	37	11	4410895	4410895	+	Missense_Mutation	SNP	C	C	A	rs375865854		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4410895C>A	ENST00000254436.7	-	3	605	c.493G>T	c.(493-495)Gca>Tca	p.A165S	TRIM21_ENST00000543625.1_Missense_Mutation_p.A165S	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	165					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCCAGTCTGCTCTCTTTATT	0.507																																						uc001lyy.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(493-495)Gca>Tca		Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.							225.0	214.0	217.0					11																	4410895		1964	4160	6124	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4410895C>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.493G>T	11.37:g.4410895C>A	ENSP00000254436:p.Ala165Ser						p.A165S	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	606	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	165					Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.493G>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739640	0.30774	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.04654	3.58;3.58	4.45	0.31	0.15825	.	0.413435	0.20876	N	0.084090	T	0.05640	0.0148	M	0.63208	1.945	0.18873	N	0.999984	B	0.15141	0.012	B	0.15870	0.014	T	0.29305	-1.0016	10	0.41790	T	0.15	.	6.4677	0.21991	0.0:0.5406:0.0:0.4594	.	165	P19474	RO52_HUMAN	S	165	ENSP00000254436:A165S;ENSP00000444045:A165S	ENSP00000254436:A165S	A	-	1	0	TRIM21	4367471	0.002000	0.14202	0.996000	0.52242	0.845000	0.48019	0.143000	0.16115	0.064000	0.16427	0.655000	0.94253	GCA		0.507	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141	
OR51G1	79324	broad.mit.edu	37	11	4944754	4944754	+	Silent	SNP	G	G	A	rs372747926		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4944754G>A	ENST00000321961.2	-	1	883	c.816C>T	c.(814-816)cgC>cgT	p.R272R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	272						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(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTACAACGCGGGGCAGAT	0.498																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(814-816)cgC>cgT		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.		G		1,4401	2.1+/-5.4	0,1,2200	199.0	165.0	176.0		816	-2.6	0.0	11		176	0,8596		0,0,4298	no	coding-synonymous	OR51G1	NM_001005237.1		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		272/322	4944754	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944754G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.816C>T	11.37:g.4944754G>A							p.R272R	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	816	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	272					B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.816C>T	CCDS31366.1																																																																																				0.498	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
KIAA1549L	25758	broad.mit.edu	37	11	33566719	33566719	+	Missense_Mutation	SNP	G	G	A	rs367876874		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:33566719G>A	ENST00000321505.4	+	2	2469	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.M769I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.M769I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	763						integral component of membrane (GO:0016021)											ACCTGGAGATGCCCAGAGCAT	0.592																																						uc021qfs.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2287-2289)atG>atA		Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.		G	ILE/MET	0,4344		0,0,2172	115.0	144.0	134.0		2289	-1.9	0.0	11		134	1,8541		0,1,4270	no	missense	C11orf41	NM_012194.2	10	0,1,6442	AA,AG,GG		0.0117,0.0,0.0078	benign	763/1850	33566719	1,12885	2172	4271	6443	SO:0001583	missense	25758					integral to membrane		g.chr11:33566719G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2289G>A	11.37:g.33566719G>A	ENSP00000315295:p.Met763Ile					C11orf41_uc001mun.1_Missense_Mutation_p.M769I	p.M763I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			1	2413	+			763					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.2289G>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.644|6.644	0.487342|0.487342	0.12641|0.12641	0.0|0.0	1.17E-4|1.17E-4	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.52|5.52	-1.92|-1.92	0.07618|0.07618	.|.	.|1.884210	.|0.02288	.|N	.|0.070041	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16396	.|0.001;0.017	.|B;B	.|0.10450	.|0.001;0.005	T|T	0.09400|0.09400	-1.0676|-1.0676	5|9	.|0.21014	.|T	.|0.42	3.9936|3.9936	3.0268|3.0268	0.06094|0.06094	0.1539:0.4514:0.1915:0.2032|0.1539:0.4514:0.1915:0.2032	.|.	.|769;769	.|E9PAT2;Q6ZVL6-2	.|.;.	Y|I	161|763;769;769;602	.|.	.|ENSP00000265654:M769I	C|M	+|+	2|3	0|0	C11orf41|C11orf41	33523295|33523295	0.618000|0.618000	0.27051|0.27051	0.042000|0.042000	0.18584|0.18584	0.956000|0.956000	0.61745|0.61745	0.792000|0.792000	0.26929|0.26929	-0.045000|-0.045000	0.13468|0.13468	0.561000|0.561000	0.74099|0.74099	TGC|ATG		0.592	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
LRRC4C	57689	broad.mit.edu	37	11	40136459	40136459	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:40136459T>C	ENST00000278198.2	-	2	3347	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	LRRC4C_ENST00000527150.1_Missense_Mutation_p.M462V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M462V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M462V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	462					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACGGTTCCATAGTCTCTACT	0.507																																						uc021qgf.1																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1384-1386)Atg>Gtg		Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.							135.0	129.0	131.0					11																	40136459		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136459T>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1384A>G	11.37:g.40136459T>C	ENSP00000278198:p.Met462Val					LRRC4C_uc001mxc.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxd.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxa.1_Missense_Mutation_p.M462V|LRRC4C_uc001mxb.1_Missense_Mutation_p.M458V	p.M462V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			0	1384	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	462					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1384A>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.505287	0.00992	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.84	5.84	0.93424	.	0.124501	0.64402	D	0.000001	T	0.27313	0.0670	N	0.12182	0.205	0.38608	D	0.95082	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.17832	T	0.49	.	9.7073	0.40222	0.0:0.0842:0.0:0.9158	.	462	Q9HCJ2	LRC4C_HUMAN	V	462	ENSP00000278198:M462V;ENSP00000436976:M462V;ENSP00000437132:M462V;ENSP00000434761:M462V	ENSP00000278198:M462V	M	-	1	0	LRRC4C	40093035	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.959000	0.63666	2.228000	0.72767	0.533000	0.62120	ATG		0.507	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
INCENP	3619	broad.mit.edu	37	11	61895641	61895641	+	Missense_Mutation	SNP	C	C	T	rs61744797	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:61895641C>T	ENST00000394818.3	+	2	210	c.8C>T	c.(7-9)aCg>aTg	p.T3M	INCENP_ENST00000278849.4_Missense_Mutation_p.T3M	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	3					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCATGGGGACGACGGCCCCA	0.567																																						uc001nsw.1																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(7-9)aCg>aTg		Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.							72.0	70.0	71.0					11																	61895641		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61895641C>T	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.8C>T	11.37:g.61895641C>T	ENSP00000378295:p.Thr3Met					INCENP_uc009ynv.3_Missense_Mutation_p.T3M|INCENP_uc009ynw.1_Missense_Mutation_p.T3M|INCENP_uc001nsx.1_Missense_Mutation_p.T3M	p.T3M	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			1	210	+			3					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.8C>T	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066378	0.55539	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.26810	2.31;1.71;2.31	5.17	5.17	0.71159	.	0.224654	0.31312	N	0.007873	T	0.41351	0.1155	L	0.44542	1.39	0.28260	N	0.92486	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.66351	0.869;0.943;0.878	T	0.26258	-1.0108	10	0.87932	D	0	.	14.192	0.65644	0.0:1.0:0.0:0.0	.	3;3;3	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	M	3	ENSP00000378295:T3M;ENSP00000433100:T3M;ENSP00000278849:T3M	ENSP00000278849:T3M	T	+	2	0	INCENP	61652217	0.840000	0.29493	0.953000	0.39169	0.994000	0.84299	1.516000	0.35856	2.422000	0.82143	0.643000	0.83706	ACG		0.567	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238	
RSF1	51773	broad.mit.edu	37	11	77413468	77413468	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:77413468T>C	ENST00000308488.6	-	6	1108	c.806A>G	c.(805-807)aAt>aGt	p.N269S	RSF1_ENST00000360355.2_Missense_Mutation_p.N238S|RSF1_ENST00000480887.1_Missense_Mutation_p.N17S			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	269	Glu-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTAGAACATTGGCTGTAGA	0.348																																						uc001oyn.3																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(805-807)aAt>aGt		Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.							63.0	70.0	67.0					11																	77413468		2186	4238	6424	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77413468T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.806A>G	11.37:g.77413468T>C	ENSP00000311513:p.Asn269Ser					RSF1_uc001oym.3_Missense_Mutation_p.N17S	p.N269S	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		5	926	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		269			Glu-rich.		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.806A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	4.447	0.082673	0.08533	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86030	-2.02;-1.92;-2.06;-1.97;1.45	5.28	-6.63	0.01807	.	1.190790	0.05920	N	0.633251	T	0.67239	0.2872	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59161	-0.7506	10	0.05721	T	0.95	-1.2886	5.3212	0.15881	0.107:0.4461:0.0898:0.3571	.	269	Q96T23	RSF1_HUMAN	S	269;17;238;70;268	ENSP00000311513:N269S;ENSP00000434509:N17S;ENSP00000353511:N238S;ENSP00000432022:N70S;ENSP00000436408:N268S	ENSP00000311513:N269S	N	-	2	0	RSF1	77091116	0.000000	0.05858	0.000000	0.03702	0.845000	0.48019	-1.326000	0.02685	-1.035000	0.03291	0.533000	0.62120	AAT		0.348	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
KCNJ5	3762	broad.mit.edu	37	11	128786516	128786516	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:128786516C>T	ENST00000338350.4	+	4	1502	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	KCNJ5_ENST00000533599.1_Missense_Mutation_p.P384S|KCNJ5_ENST00000529694.1_Missense_Mutation_p.P384S			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	384					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCCCAGCCCCCCACTGCTGGG	0.627																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1150-1152)Cca>Tca		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	Glibenclamide(DB01016)						36.0	41.0	39.0					11																	128786516		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786516C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1150C>T	11.37:g.128786516C>T	ENSP00000339960:p.Pro384Ser					KCNJ5_uc009zck.3_Missense_Mutation_p.P384S|KCNJ5_uc001qew.3_Missense_Mutation_p.P384S	p.P384S	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1464	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	384					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.1150C>T	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	c	4.903	0.167754	0.09339	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.88509	-2.39;-2.39;-2.39	4.18	3.18	0.36537	.	0.747671	0.12138	N	0.496165	T	0.71804	0.3383	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59375	-0.7466	10	0.07813	T	0.8	.	4.9775	0.14148	0.3093:0.5769:0.0:0.1137	.	384	P48544	IRK5_HUMAN	S	384	ENSP00000433295:P384S;ENSP00000339960:P384S;ENSP00000434266:P384S	ENSP00000339960:P384S	P	+	1	0	KCNJ5	128291726	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.487000	0.22356	2.183000	0.69458	0.466000	0.42574	CCA		0.627	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890	
LGR5	8549	broad.mit.edu	37	12	71977624	71977624	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:71977624G>A	ENST00000266674.5	+	18	2145	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M	LGR5_ENST00000540815.2_Missense_Mutation_p.V588M|LGR5_ENST00000536515.1_Missense_Mutation_p.V540M|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	612					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCAGTGCCGTGCTGGCTGG	0.507																																						uc001swl.3																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1834-1836)Gtg>Atg		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.							146.0	114.0	125.0					12																	71977624		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977624G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1834G>A	12.37:g.71977624G>A	ENSP00000266674:p.Val612Met					LGR5_uc001swm.3_Missense_Mutation_p.V588M|LGR5_uc021rar.1_Missense_Mutation_p.V540M|LGR5_uc001swn.1_Non-coding_Transcript	p.V612M	NM_003667	NP_003658	O75473	LGR5_HUMAN			17	1882	+			612					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1834G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	6.885	0.532816	0.13127	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.86694	-2.16;-2.16;-2.16	5.84	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.247509	0.28382	N	0.015556	D	0.83312	0.5227	L	0.58428	1.81	0.35365	D	0.788516	B;B	0.25667	0.108;0.131	B;B	0.23275	0.027;0.045	T	0.80870	-0.1189	10	0.42905	T	0.14	.	11.4947	0.50402	0.1887:0.0:0.8113:0.0	.	588;612	O75473-2;O75473	.;LGR5_HUMAN	M	612;612;540;588	ENSP00000266674:V612M;ENSP00000443033:V540M;ENSP00000441035:V588M	ENSP00000266674:V612M	V	+	1	0	LGR5	70263891	0.081000	0.21417	0.230000	0.23976	0.022000	0.10575	1.050000	0.30404	0.378000	0.24764	0.655000	0.94253	GTG		0.507	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	
CEP83	51134	broad.mit.edu	37	12	94761707	94761707	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:94761707C>G	ENST00000397809.5	-	11	1755	c.1206G>C	c.(1204-1206)gaG>gaC	p.E402D	CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000339839.5_Missense_Mutation_p.E402D|CCDC41_ENST00000397807.2_Missense_Mutation_p.E369D	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		394					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTAATCTGTTCTCGAGTTCTA	0.343																																						uc001tdd.3																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1204-1206)gaG>gaC		Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.							140.0	122.0	128.0					12																	94761707		1840	4094	5934	SO:0001583	missense	51134							g.chr12:94761707C>G																												ENST00000397809.5:c.1206G>C	12.37:g.94761707C>G	ENSP00000380911:p.Glu402Asp					CCDC41_uc001tde.3_Missense_Mutation_p.E402D|CCDC41_uc009zsw.1_Non-coding_Transcript	p.E402D	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			10	1792	-			394					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1206G>C	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038023	0.75617	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.60548	0.18;0.18;0.4	5.83	4.95	0.65309	.	.	.	.	.	T	0.71056	0.3295	M	0.61703	1.905	0.40003	D	0.975196	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.99	T	0.73014	-0.4116	9	0.51188	T	0.08	-11.6861	11.0262	0.47746	0.0:0.8585:0.0:0.1415	.	369;394	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	D	402;402;369	ENSP00000344655:E402D;ENSP00000380911:E402D;ENSP00000380909:E369D	ENSP00000344655:E402D	E	-	3	2	CCDC41	93285838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.251000	0.32862	1.481000	0.48307	0.655000	0.94253	GAG		0.343	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
RBM19	9904	broad.mit.edu	37	12	114282581	114282581	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:114282581C>T	ENST00000545145.2	-	23	2755	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	RBM19_ENST00000392561.3_Missense_Mutation_p.A893T|RBM19_ENST00000261741.5_Missense_Mutation_p.A893T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	893	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGACACAGGGCGTTGAAGGCT	0.642																																						uc009zwi.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2677-2679)Gcc>Acc		Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.							43.0	40.0	41.0					12																	114282581		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114282581C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2677G>A	12.37:g.114282581C>T	ENSP00000442053:p.Ala893Thr					RBM19_uc001tvn.4_Missense_Mutation_p.A893T|RBM19_uc001tvm.3_Missense_Mutation_p.A893T	p.A893T	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN			22	2821	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		893			RRM 6.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2677G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693349	0.88735	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.17691	2.26;2.26;2.26	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	L	0.41710	1.295	0.80722	D	1	D	0.56521	0.976	P	0.51385	0.668	T	0.00414	-1.1754	10	0.45353	T	0.12	-22.6444	12.8949	0.58093	0.0:0.9206:0.0:0.0794	.	893	Q9Y4C8	RBM19_HUMAN	T	893	ENSP00000442053:A893T;ENSP00000376344:A893T;ENSP00000261741:A893T	ENSP00000261741:A893T	A	-	1	0	RBM19	112766964	1.000000	0.71417	0.958000	0.39756	0.931000	0.56810	4.418000	0.59828	2.449000	0.82847	0.561000	0.74099	GCC		0.642	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
RNF17	56163	broad.mit.edu	37	13	25417989	25417989	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:25417989C>T	ENST00000255324.5	+	20	2763	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.S904F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	904					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGCAAAATCTCTACCTAAT	0.323																																						uc001upr.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2710-2712)tCt>tTt		Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.							61.0	62.0	62.0					13																	25417989		2203	4292	6495	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25417989C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2711C>T	13.37:g.25417989C>T	ENSP00000255324:p.Ser904Phe					RNF17_uc010tdd.1_Missense_Mutation_p.S763F|RNF17_uc010tde.2_Missense_Mutation_p.S904F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S843F|RNF17_uc010aac.3_Missense_Mutation_p.S102F|RNF17_uc010aad.3_5'UTR	p.S904F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2752	+		Lung SC(185;0.0225)|Breast(139;0.077)	904					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2711C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	0.445	-0.896484	0.02472	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.13420	3.37;3.37;2.59	4.54	3.68	0.42216	.	0.421766	0.22456	N	0.059829	T	0.07503	0.0189	N	0.17082	0.46	0.80722	D	1	B;B;B	0.15473	0.013;0.004;0.008	B;B;B	0.12156	0.007;0.007;0.006	T	0.22103	-1.0226	10	0.33940	T	0.23	-15.341	6.217	0.20661	0.0:0.8197:0.0:0.1803	.	904;904;904	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	F	904;904;763;228	ENSP00000255324:S904F;ENSP00000371346:S904F;ENSP00000388892:S228F	ENSP00000255324:S904F	S	+	2	0	RNF17	24315989	0.992000	0.36948	1.000000	0.80357	0.352000	0.29268	1.104000	0.31074	2.513000	0.84729	0.591000	0.81541	TCT		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
SHISA2	387914	broad.mit.edu	37	13	26621160	26621160	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:26621160C>T	ENST00000319420.3	-	2	434	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	127					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						ATGATAAAGGCGACAAACACG	0.542																																						uc001uqm.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(379-381)Gcc>Acc		Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.							77.0	64.0	68.0					13																	26621160		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621160C>T		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.379G>A	13.37:g.26621160C>T	ENSP00000313079:p.Ala127Thr						p.A127T	NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN			1	464	-			127					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.379G>A	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195112	0.94960	.	.	ENSG00000180730	ENST00000319420	T	0.44083	0.93	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56992	-0.7887	10	0.22109	T	0.4	-36.1913	17.7042	0.88304	0.0:1.0:0.0:0.0	.	127	Q6UWI4	SHSA2_HUMAN	T	127	ENSP00000313079:A127T	ENSP00000313079:A127T	A	-	1	0	SHISA2	25519160	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.818000	0.86416	2.173000	0.68751	0.557000	0.71058	GCC		0.542	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538	
KIAA0226L	80183	broad.mit.edu	37	13	46937309	46937309	+	Missense_Mutation	SNP	C	C	T	rs372724179		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:46937309C>T	ENST00000429979.1	-	6	1470	c.866G>A	c.(865-867)cGt>cAt	p.R289H	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.R132H|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.R154H|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.R132H|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.R289H|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.R289H|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.R289H|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.R289H|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.R222H	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	289										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATGGTAAGTACGTGTTTCAGT	0.393																																						uc010acl.3																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(865-867)cGt>cAt		Homo sapiens KIAA0226-like (KIAA0226L), mRNA.		C	HIS/ARG	0,4406		0,0,2203	149.0	126.0	134.0		866	2.8	0.0	13		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0226L	NM_025113.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	289/663	46937309	1,13005	2203	4300	6503	SO:0001583	missense	80183							g.chr13:46937309C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.866G>A	13.37:g.46937309C>T	ENSP00000396935:p.Arg289His					KIAA0226L_uc001vbf.4_Missense_Mutation_p.R222H|KIAA0226L_uc010tfz.2_Missense_Mutation_p.R132H|KIAA0226L_uc010acn.3_Missense_Mutation_p.R74H|KIAA0226L_uc010acm.3_Missense_Mutation_p.R154H|KIAA0226L_uc001vbe.4_Missense_Mutation_p.R289H|KIAA0226L_uc001vbh.4_Missense_Mutation_p.R289H|KIAA0226L_uc001vbi.4_Missense_Mutation_p.R132H|KIAA0226L_uc010aco.1_Missense_Mutation_p.R289H	p.R289H	NM_025113	NP_079389	Q9H714	CM018_HUMAN			5	1471	-			289					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.866G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	6.938	0.542906	0.13250	0.0	1.16E-4	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T;T	0.45668	0.89;0.91;0.89;0.92;0.91;0.89;0.93	5.53	2.85	0.33270	.	0.454383	0.22876	N	0.054577	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	P;P;P;P;P;D;D	0.57571	0.937;0.935;0.937;0.893;0.893;0.963;0.98	B;B;B;B;B;B;P	0.44597	0.197;0.36;0.197;0.197;0.197;0.36;0.454	T	0.10941	-1.0608	10	0.13108	T	0.6	-0.2497	6.3665	0.21457	0.1677:0.1533:0.679:0.0	.	132;289;132;289;154;222;289	B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;.;K226L_HUMAN;.;.;.	H	289;289;289;222;289;289;132;132;154	ENSP00000368057:R289H;ENSP00000396935:R289H;ENSP00000368074:R289H;ENSP00000368061:R222H;ENSP00000374558:R289H;ENSP00000368064:R289H;ENSP00000437501:R154H	ENSP00000315633:R132H	R	-	2	0	KIAA0226L	45835310	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.345000	0.33953	0.375000	0.24679	-0.841000	0.03054	CGT		0.393	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	
PCDH17	27253	broad.mit.edu	37	13	58299189	58299189	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:58299189C>G	ENST00000377918.3	+	4	3267	c.3241C>G	c.(3241-3243)Cct>Gct	p.P1081A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1081					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATATCTGTCACCTAGTAAGCA	0.527																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3241-3243)Cct>Gct		Homo sapiens protocadherin 17 (PCDH17), mRNA.							124.0	119.0	121.0					13																	58299189		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299189C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3241C>G	13.37:g.58299189C>G	ENSP00000367151:p.Pro1081Ala					PCDH17_uc010aec.1_Missense_Mutation_p.P1080A|PCDH17_uc001vhr.1_Missense_Mutation_p.P170A	p.P1081A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	3	4133	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1081					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3241C>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466932	0.63625	.	.	ENSG00000118946	ENST00000377918	T	0.55930	0.49	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.43152	1.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.61307	-0.7089	9	.	.	.	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	1081	O14917	PCD17_HUMAN	A	1081	ENSP00000367151:P1081A	.	P	+	1	0	PCDH17	57197190	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	CCT		0.527	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
DACH1	1602	broad.mit.edu	37	13	72147083	72147083	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:72147083T>C	ENST00000359684.2	-	5	1349	c.1350A>G	c.(1348-1350)gcA>gcG	p.A450A	DACH1_ENST00000305425.4_Silent_p.A398A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	450					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGTGACAGATGCTGGAGGTA	0.473																																						uc021rkj.1																			0		p.A398T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1192-1194)gcA>gcG		Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.							100.0	102.0	102.0					13																	72147083		2083	4246	6329	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147083T>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1350A>G	13.37:g.72147083T>C						DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	p.A398A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1617	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	448					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1194A>G																																																																																					0.473	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
ARID4A	5926	broad.mit.edu	37	14	58771705	58771705	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:58771705A>G	ENST00000355431.3	+	4	534	c.161A>G	c.(160-162)gAc>gGc	p.D54G	ARID4A_ENST00000348476.3_Missense_Mutation_p.D54G|ARID4A_ENST00000395168.3_Missense_Mutation_p.D54G|ARID4A_ENST00000431317.2_Missense_Mutation_p.D54G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	54					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTACAAGATGACCAAGTAAAG	0.279																																						uc001xdp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(160-162)gAc>gGc		Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.							114.0	115.0	115.0					14																	58771705		2203	4298	6501	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58771705A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.161A>G	14.37:g.58771705A>G	ENSP00000347602:p.Asp54Gly					ARID4A_uc010apf.1_Non-coding_Transcript|ARID4A_uc001xdo.3_Missense_Mutation_p.D54G|ARID4A_uc001xdq.3_Missense_Mutation_p.D54G	p.D54G	NM_002892	NP_002883	P29374	ARI4A_HUMAN			3	415	+			54					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.161A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083489	0.94050	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000424658;ENST00000431317	T;T;T;T	0.18016	2.25;2.24;2.26;2.24	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.983;0.995	D;D;D	0.91635	0.999;0.943;0.946	T	0.34403	-0.9830	10	0.87932	D	0	-24.3384	16.4416	0.83903	1.0:0.0:0.0:0.0	.	54;54;54	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	G	54;54;54;17;54;54	ENSP00000347602:D54G;ENSP00000344556:D54G;ENSP00000378597:D54G;ENSP00000397368:D54G	ENSP00000344556:D54G	D	+	2	0	ARID4A	57841458	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.737000	0.91562	2.285000	0.76669	0.477000	0.44152	GAC		0.279	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
SYNE2	23224	broad.mit.edu	37	14	64450574	64450574	+	Silent	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:64450574A>G	ENST00000344113.4	+	18	2333	c.2121A>G	c.(2119-2121)gaA>gaG	p.E707E	SYNE2_ENST00000358025.3_Silent_p.E707E|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.E707E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	707					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTCAGTAGAACTTCCTGAAA	0.259																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2119-2121)gaA>gaG		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							24.0	23.0	23.0					14																	64450574		1778	4047	5825	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64450574A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2121A>G	14.37:g.64450574A>G						SYNE2_uc001xgm.3_Silent_p.E707E|SYNE2_uc021ruh.1_Silent_p.E707E	p.E707E	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	17	2351	+			707					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2121A>G	CCDS41963.1																																																																																				0.259	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
ATP10A	57194	broad.mit.edu	37	15	26026298	26026298	+	Silent	SNP	G	G	A	rs145190957		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:26026298G>A	ENST00000356865.6	-	2	633	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	174					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17697	0.0		0.0	False		,,,				2504	0.0					uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(520-522)aaC>aaT		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.		G		0,4406		0,0,2203	111.0	109.0	110.0		522	-9.3	0.3	15	dbSNP_134	110	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ATP10A	NM_024490.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		174/1500	26026298	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026298G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.522C>T	15.37:g.26026298G>A							p.N174N	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	1	628	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	174					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.522C>T	CCDS32178.1																																																																																				0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:41146113C>T	ENST00000344051.4	+	5	1181	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_ENST00000562057.1_Intron|SPINT1_ENST00000431806.1_Intron			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	316					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		14296	0.0		0.0	False		,,,				2504	0.001					uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(946-948)gCg>gTg		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.		C	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	99.0	96.0		,,947	-2.4	0.0	15	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	,,316/530	41146113	5,13001	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146113C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.947C>T	15.37:g.41146113C>T	ENSP00000342098:p.Ala316Val					SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	316					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.947C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140218	0.21205	2.27E-4	4.65E-4	ENSG00000166145	ENST00000344051;ENST00000536281	D	0.95447	-3.71	3.63	-2.36	0.06663	.	1.553590	0.03603	N	0.233774	D	0.86335	0.5908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76971	-0.2761	10	0.26408	T	0.33	-1.0835	1.5857	0.02644	0.1618:0.3922:0.1649:0.2811	.	316	O43278	SPIT1_HUMAN	V	316;283	ENSP00000342098:A316V	ENSP00000342098:A316V	A	+	2	0	SPINT1	38933405	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-0.482000	0.06544	-0.420000	0.07427	-0.253000	0.11424	GCG		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710	
GABPB1	2553	broad.mit.edu	37	15	50593063	50593063	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:50593063G>T	ENST00000220429.8	-	6	824	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	GABPB1_ENST00000560825.1_Missense_Mutation_p.S207Y|GABPB1_ENST00000359031.4_Missense_Mutation_p.S207Y|GABPB1_ENST00000429662.2_Missense_Mutation_p.S219Y|GABPB1_ENST00000396464.3_Missense_Mutation_p.S207Y|GABPB1_ENST00000543881.1_Missense_Mutation_p.S143Y|GABPB1_ENST00000380877.3_Missense_Mutation_p.S207Y			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	219					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGATGTAGAAGAGTTTCCAAA	0.363																																						uc001zyb.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(655-657)tCt>tAt		Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.							99.0	95.0	97.0					15																	50593063		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50593063G>T	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.656C>A	15.37:g.50593063G>T	ENSP00000220429:p.Ser219Tyr					GABPB1_uc001zya.3_Missense_Mutation_p.S207Y|GABPB1_uc010ufg.2_Missense_Mutation_p.S143Y|GABPB1_uc001zyd.3_Missense_Mutation_p.S207Y|GABPB1_uc001zye.3_Missense_Mutation_p.S219Y|GABPB1_uc001zyf.3_Missense_Mutation_p.S207Y|GABPB1_uc001zyc.3_Missense_Mutation_p.S207Y	p.S219Y	NM_005254	NP_005245	Q06547	GABP1_HUMAN			5	1080	-			219					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.656C>A	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232130	0.79688	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T	0.68903	0.62;-0.36;-0.36;-0.36	5.7	5.7	0.88788	.	0.081744	0.53938	D	0.000058	T	0.75019	0.3793	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D;D	0.61697	0.99;0.981;0.984;0.99;0.984	D;P;D;D;D	0.74348	0.974;0.645;0.983;0.974;0.983	T	0.71676	-0.4521	10	0.33940	T	0.23	-4.6725	19.9207	0.97085	0.0:0.0:1.0:0.0	.	219;219;207;219;207	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	Y	207;219;143;207;219;207	ENSP00000442500:S143Y;ENSP00000379728:S207Y;ENSP00000395771:S219Y;ENSP00000351923:S207Y	ENSP00000220429:S207Y	S	-	2	0	GABPB1	48380355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.573000	0.82421	2.708000	0.92522	0.644000	0.83932	TCT		0.363	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
USP7	7874	broad.mit.edu	37	16	8998407	8998407	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:8998407G>A	ENST00000344836.4	-	15	1787	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	USP7_ENST00000535863.1_Missense_Mutation_p.A431V|USP7_ENST00000381886.4_Missense_Mutation_p.A514V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	530					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A530V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTCGGTGACCGCCTGTAAAAC	0.502																																						uc002czl.2																			1	Substitution - Missense(1)	p.A530V(2)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1588-1590)gCg>gTg		Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.							94.0	82.0	86.0					16																	8998407		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8998407G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1589C>T	16.37:g.8998407G>A	ENSP00000343535:p.Ala530Val					USP7_uc010uyk.1_Missense_Mutation_p.A431V|USP7_uc010uyj.1_Missense_Mutation_p.A431V|USP7_uc002czk.2_Missense_Mutation_p.A514V|USP7_uc010uyl.1_Intron	p.A530V	NM_003470	NP_003461	Q93009	UBP7_HUMAN			14	1788	-			530					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1589C>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698401	0.68386	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.05786	3.39;3.39	5.2	5.2	0.72013	.	0.100266	0.64402	D	0.000002	T	0.05686	0.0149	N	0.14661	0.345	0.48830	D	0.999716	B;B	0.18310	0.015;0.027	B;B	0.09377	0.004;0.003	T	0.44574	-0.9319	10	0.39692	T	0.17	.	18.7258	0.91713	0.0:0.0:1.0:0.0	.	530;514	Q93009;B7Z815	UBP7_HUMAN;.	V	530;538;431;431	ENSP00000343535:A530V;ENSP00000443646:A431V	ENSP00000343535:A530V	A	-	2	0	USP7	8905908	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.949000	0.87791	2.423000	0.82170	0.455000	0.32223	GCG		0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
ERCC4	2072	broad.mit.edu	37	16	14029049	14029049	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:14029049G>A	ENST00000311895.7	+	8	1269	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	420	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTTCCCAGCTGAGAGACTATA	0.403			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1258-1260)ctG>ctA	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.							139.0	129.0	132.0					16																	14029049		2197	4300	6497	SO:0001819	synonymous_variant	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029049G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1260G>A	16.37:g.14029049G>A						ERCC4_uc010uyz.1_5'UTR	p.L420L	NM_005236	NP_005227	Q92889	XPF_HUMAN			7	1269	+			420					A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	ENST00000311895.7	37	c.1260G>A	CCDS32390.1																																																																																				0.403	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
CNOT1	23019	broad.mit.edu	37	16	58587731	58587731	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:58587731C>T	ENST00000317147.5	-	22	3257	c.2925G>A	c.(2923-2925)ttG>ttA	p.L975L	CNOT1_ENST00000441024.2_Silent_p.L975L|CNOT1_ENST00000569240.1_Silent_p.L970L|CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569732.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	975	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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 stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGATAGAAGCCAAATGCTGAC	0.368																																						uc002env.3																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2923-2925)ttG>ttA		Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.							127.0	127.0	127.0					16																	58587731		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58587731C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2925G>A	16.37:g.58587731C>T						CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.L970L|CNOT1_uc002enx.3_Silent_p.L975L|CNOT1_uc002enz.1_Silent_p.L404L|CNOT1_uc010vik.2_5'Flank	p.L975L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3218	-			975					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.2925G>A	CCDS10799.1																																																																																				0.368	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
PIK3R5	23533	broad.mit.edu	37	17	8791674	8791674	+	Missense_Mutation	SNP	C	C	T	rs370964753		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:8791674C>T	ENST00000447110.1	-	10	1554	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	PIK3R5_ENST00000581552.1_Missense_Mutation_p.R477H|PIK3R5_ENST00000584803.1_Missense_Mutation_p.R477H	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	477					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCAGGGAGCGGGAGCGCTG	0.721																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1429-1431)cGc>cAc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4388		0,0,2194	15.0	19.0	18.0		1430,1430	-8.4	0.3	17		18	1,8583		0,1,4291	no	missense,missense	PIK3R5	NM_001142633.1,NM_014308.3	29,29	0,1,6485	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	477/881,477/881	8791674	1,12971	2194	4292	6486	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791674C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1430G>A	17.37:g.8791674C>T	ENSP00000392812:p.Arg477His					PIK3R5_uc010vuz.2_Missense_Mutation_p.R477H|PIK3R5_uc021tqc.1_Missense_Mutation_p.R91H|PIK3R5_uc010cob.2_Missense_Mutation_p.R91H|PIK3R5_uc010coa.2_Missense_Mutation_p.R91H|PIK3R5_uc002glu.4_Missense_Mutation_p.R91H	p.R477H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN			9	1497	-			477					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1430G>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329924	0.24167	0.0	1.16E-4	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77877	-1.13	5.51	-8.35	0.00984	.	0.530234	0.21365	N	0.075722	T	0.46889	0.1416	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.28713	-1.0035	10	0.35671	T	0.21	-6.3625	7.0384	0.25006	0.614:0.1112:0.0:0.2748	.	477	Q8WYR1	PI3R5_HUMAN	H	477	ENSP00000392812:R477H	ENSP00000269300:R477H	R	-	2	0	PIK3R5	8732399	0.011000	0.17503	0.311000	0.25182	0.585000	0.36419	-0.386000	0.07370	-0.937000	0.03719	-1.051000	0.02340	CGC		0.721	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
MYH13	8735	broad.mit.edu	37	17	10215249	10215249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:10215249G>A	ENST00000418404.3	-	31	4673	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.R1504*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1504					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTCTCTCGCCTCAGTGTC	0.542																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4510-4512)Cga>Tga		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							95.0	100.0	99.0					17																	10215249		2109	4215	6324	SO:0001587	stop_gained	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10215249G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4510C>T	17.37:g.10215249G>A	ENSP00000404570:p.Arg1504*						p.R1504*	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			31	4600	-			1504					O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	c.4510C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	44	11.071621	0.99511	.	.	ENSG00000006788	ENST00000252172	.	.	.	4.45	3.4	0.38934	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5584	0.56267	0.0:0.0:0.7311:0.2689	.	.	.	.	X	1504	.	ENSP00000252172:R1504X	R	-	1	2	MYH13	10155974	0.168000	0.22989	0.967000	0.41034	0.909000	0.53808	0.711000	0.25764	2.465000	0.83290	0.655000	0.94253	CGA		0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
KRT35	3886	broad.mit.edu	37	17	39637207	39637207	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:39637207C>A	ENST00000393989.1	-	1	185	c.143G>T	c.(142-144)aGt>aTt	p.S48I	KRT35_ENST00000246639.2_Missense_Mutation_p.S18I	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	48	Head.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGCAGAGAAACTTCTGGCCAC	0.622																																						uc002hws.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(142-144)aGt>aTt		Homo sapiens keratin 35 (KRT35), mRNA.							41.0	49.0	46.0					17																	39637207		2066	4224	6290	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39637207C>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.143G>T	17.37:g.39637207C>A	ENSP00000377558:p.Ser48Ile						p.S48I	NM_002280	NP_002271	Q92764	KRT35_HUMAN			0	186	-		Breast(137;0.000286)	48			Head.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.143G>T	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657649	0.14645	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;T	0.81996	-1.56;-1.49	5.17	2.0	0.26442	.	0.320608	0.26951	N	0.021673	T	0.74160	0.3680	L	0.52573	1.65	0.09310	N	1	P	0.41597	0.756	B	0.38106	0.265	T	0.65274	-0.6208	10	0.51188	T	0.08	.	6.2119	0.20633	0.1383:0.6555:0.1333:0.073	.	48	Q92764	KRT35_HUMAN	I	18;48	ENSP00000246639:S18I;ENSP00000377558:S48I	ENSP00000246639:S18I	S	-	2	0	KRT35	36890733	0.001000	0.12720	0.013000	0.15412	0.169000	0.22640	1.212000	0.32394	0.308000	0.22923	-0.448000	0.05591	AGT		0.622	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280	
CYTH1	9267	broad.mit.edu	37	17	76705733	76705733	+	Splice_Site	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:76705733T>C	ENST00000446868.3	-	2	174	c.104A>G	c.(103-105)cAg>cGg	p.Q35R	CYTH1_ENST00000589297.1_5'UTR|CYTH1_ENST00000591455.1_Splice_Site_p.Q35R|CYTH1_ENST00000585509.1_5'UTR|CYTH1_ENST00000361101.4_Splice_Site_p.Q35R|CYTH1_ENST00000589296.1_Splice_Site_p.Q35R			Q15438	CYH1_HUMAN	cytohesin 1	35					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CTCTCCTACCTGAATGTCAGC	0.498																																						uc021ueg.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.e2+1		Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.							191.0	152.0	165.0					17																	76705733		2203	4300	6503	SO:0001630	splice_region_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76705733T>C	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.105+1A>G	17.37:g.76705733T>C						CYTH1_uc002jvw.3_Splice_Site_p.Q35_splice|CYTH1_uc010wtw.1_Splice_Site|CYTH1_uc010wtx.1_Splice_Site	p.Q35_splice	NM_004762	NP_004753	Q15438	CYH1_HUMAN			2	176	-			35					A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.105_splice		.	.	.	.	.	.	.	.	.	.	T	16.67	3.188994	0.57909	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000392457;ENST00000262763;ENST00000434577;ENST00000416418	T;T	0.13901	2.55;2.55	5.56	4.49	0.54785	.	0.050712	0.85682	N	0.000000	T	0.22898	0.0553	M	0.86028	2.79	0.80722	D	1	B	0.12013	0.005	B	0.25291	0.059	T	0.02232	-1.1191	10	0.49607	T	0.09	.	11.093	0.48128	0.0:0.0721:0.0:0.9279	.	35	Q15438-2	.	R	35;35;35;35;46;37	ENSP00000389095:Q35R;ENSP00000354398:Q35R	ENSP00000262763:Q35R	Q	-	2	0	CYTH1	74217328	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.610000	0.67668	0.950000	0.37743	0.533000	0.62120	CAG		0.498	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	Missense_Mutation
ZNF556	80032	broad.mit.edu	37	19	2878077	2878077	+	Missense_Mutation	SNP	C	C	T	rs139830711		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:2878077C>T	ENST00000307635.2	+	4	1208	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	ZNF556_ENST00000586426.1_Missense_Mutation_p.T373M	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AAATGTGAAACGTGTGGGAAA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0					uc002lwp.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(1120-1122)aCg>aTg		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.		C	MET/THR	8,4398	14.3+/-33.2	0,8,2195	79.0	73.0	75.0		1121	-1.6	0.0	19	dbSNP_134	75	0,8600		0,0,4300	yes	missense	ZNF556	NM_024967.1	81	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	374/457	2878077	8,12998	2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2878077C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1121C>T	19.37:g.2878077C>T	ENSP00000302603:p.Thr374Met					ZNF556_uc002lwq.3_Missense_Mutation_p.T373M	p.T374M	NM_024967	NP_079243	Q9HAH1	ZN556_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)	3	1208	+			374					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.1121C>T	CCDS12097.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.669	0.124362	0.08931	0.001816	0.0	ENSG00000172000	ENST00000307635	T	0.51574	0.7	2.3	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26304	0.0642	N	0.26130	0.795	0.09310	N	1	P	0.45283	0.855	B	0.35770	0.21	T	0.10543	-1.0625	9	0.62326	D	0.03	.	4.4592	0.11657	0.4267:0.3871:0.0:0.1862	.	374	Q9HAH1	ZN556_HUMAN	M	374	ENSP00000302603:T374M	ENSP00000302603:T374M	T	+	2	0	ZNF556	2829077	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.527000	0.06200	-1.016000	0.03371	-2.187000	0.00313	ACG		0.483	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
MFSD12	126321	broad.mit.edu	37	19	3557226	3557226	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3557226C>T	ENST00000355415.2	-	1	345	c.176G>A	c.(175-177)gGg>gAg	p.G59E	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000389395.3_Missense_Mutation_p.G59E|MFSD12_ENST00000398558.4_Missense_Mutation_p.G59E|AC005786.5_ENST00000592368.1_lincRNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	59					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CAGCAGCAGCCCCGCGCCGCG	0.726																																						uc002lxw.3																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(175-177)gGg>gAg		Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.							11.0	15.0	13.0					19																	3557226		2035	4169	6204	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3557226C>T	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.176G>A	19.37:g.3557226C>T	ENSP00000347583:p.Gly59Glu					MFSD12_uc002lxx.3_Missense_Mutation_p.G59E|MFSD12_uc002lxy.3_Missense_Mutation_p.G59E|MFSD12_uc002lxz.3_Missense_Mutation_p.G59E	p.G59E	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN			0	346	-			59					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.176G>A	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844236	0.91197	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.85861	-2.04;-2.04;-2.04	3.75	3.75	0.43078	Major facilitator superfamily domain, general substrate transporter (1);	0.063724	0.64402	D	0.000006	D	0.93006	0.7774	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94471	0.7685	10	0.87932	D	0	-23.7044	15.0325	0.71720	0.0:1.0:0.0:0.0	.	59;59;59	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	E	59	ENSP00000374046:G59E;ENSP00000381566:G59E;ENSP00000347583:G59E	ENSP00000347583:G59E	G	-	2	0	C19orf28	3508226	0.999000	0.42202	0.988000	0.46212	0.603000	0.37013	4.407000	0.59754	2.076000	0.62316	0.561000	0.74099	GGG		0.726	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983	
ATCAY	85300	broad.mit.edu	37	19	3918804	3918804	+	Splice_Site	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3918804C>T	ENST00000450849.2	+	11	1469	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	ATCAY_ENST00000398448.3_Splice_Site_p.S340S|ATCAY_ENST00000600960.1_Splice_Site_p.S334S|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000301260.6_Splice_Site_p.S334S	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	334	Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGTCCACAGCGCGAGGCCCC	0.612																																						uc010xhz.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.e12-1		Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.							54.0	58.0	56.0					19																	3918804		2018	4183	6201	SO:0001630	splice_region_variant	85300				transport		protein binding	g.chr19:3918804C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.1002-1C>T	19.37:g.3918804C>T						ATCAY_uc002lyy.4_Splice_Site_p.S334_splice|ATCAY_uc010dts.3_Splice_Site_p.S91_splice	p.S340_splice			Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1503	+		Hepatocellular(1079;0.137)	334					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	c.1020_splice	CCDS45923.1																																																																																				0.612	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		Silent
FUT3	2525	broad.mit.edu	37	19	5844141	5844141	+	Missense_Mutation	SNP	G	G	A	rs377154201		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:5844141G>A	ENST00000303225.6	-	3	1344	c.710C>T	c.(709-711)aCg>aTg	p.T237M	FUT3_ENST00000589918.1_Missense_Mutation_p.T237M|FUT3_ENST00000458379.2_Missense_Mutation_p.T237M|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.T237M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	237					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.T237M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGGACAGCGTCTCCATCAT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18471	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			1	Substitution - Missense(1)	p.T237M(2)	breast(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(709-711)aCg>aTg		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	120.0	114.0	116.0		710,710,710,710	-4.6	0.0	19		116	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	81,81,81,81	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	237/362,237/362,237/362,237/362	5844141	2,12998	2201	4299	6500	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844141G>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.710C>T	19.37:g.5844141G>A	ENSP00000305603:p.Thr237Met					FUT3_uc002mdm.2_Missense_Mutation_p.T237M|FUT3_uc002mdj.2_Missense_Mutation_p.T237M|FUT3_uc002mdl.2_Missense_Mutation_p.T237M|FUT3_uc021unn.1_Missense_Mutation_p.T237M	p.T237M	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			1	807	-			237					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.710C>T	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	8.055	0.766854	0.15983	2.27E-4	1.16E-4	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.26810	1.71;1.71	2.29	-4.57	0.03421	.	7.518050	0.00644	N	0.000532	T	0.36413	0.0966	L	0.54863	1.705	0.09310	N	1	D;P;P;P	0.63880	0.993;0.897;0.949;0.897	D;P;P;P	0.65140	0.932;0.7;0.763;0.7	T	0.46176	-0.9210	10	0.33940	T	0.23	.	1.9618	0.03387	0.146:0.1856:0.4806:0.1878	.	237;237;237;237	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	M	237	ENSP00000305603:T237M;ENSP00000416443:T237M	ENSP00000305603:T237M	T	-	2	0	FUT3	5795141	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.329000	0.00510	-0.871000	0.04042	0.194000	0.17425	ACG		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149	
TNFSF14	8740	broad.mit.edu	37	19	6669943	6669943	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:6669943C>T	ENST00000599359.1	-	2	519	c.138G>A	c.(136-138)ctG>ctA	p.L46L	TNFSF14_ENST00000245912.3_Intron|TNFSF14_ENST00000326176.9_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	46					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGGCCCCCATCAGCAACAGCA	0.662																																						uc002mfk.2																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(136-138)ctG>ctA		Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.							99.0	92.0	95.0					19																	6669943		2203	4300	6503	SO:0001819	synonymous_variant	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6669943C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.138G>A	19.37:g.6669943C>T						TNFSF14_uc002mfj.2_Intron	p.L46L	NM_003807	NP_003798	O43557	TNF14_HUMAN			1	520	-			46					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.138G>A	CCDS12171.1																																																																																				0.662	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		
MUC16	94025	broad.mit.edu	37	19	9047128	9047128	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9047128C>G	ENST00000397910.4	-	5	34706	c.34503G>C	c.(34501-34503)atG>atC	p.M11501I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11503	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGGGAACCATTGTGTTGG	0.507																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34501-34503)atG>atC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							171.0	167.0	168.0					19																	9047128		2065	4213	6278	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047128C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34503G>C	19.37:g.9047128C>G	ENSP00000381008:p.Met11501Ile						p.M11501I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	34707	-			11503			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34503G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.170	-0.641256	0.03557	.	.	ENSG00000181143	ENST00000397910	T	0.01918	4.56	2.71	-5.42	0.02640	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	.	.	.	B	0.14438	0.01	B	0.13407	0.009	T	0.46679	-0.9174	8	0.87932	D	0	.	2.5558	0.04760	0.1341:0.3506:0.0992:0.4162	.	11501	B5ME49	.	I	11501	ENSP00000381008:M11501I	ENSP00000381008:M11501I	M	-	3	0	MUC16	8908128	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.674000	0.00842	-3.593000	0.00135	-0.482000	0.04802	ATG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9082859	9082859	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9082859T>A	ENST00000397910.4	-	1	9159	c.8956A>T	c.(8956-8958)Aga>Tga	p.R2986*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2987	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGCATATCTAGGGTCCCCT	0.498																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8956-8958)Aga>Tga		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							120.0	121.0	120.0					19																	9082859		2079	4236	6315	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082859T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8956A>T	19.37:g.9082859T>A	ENSP00000381008:p.Arg2986*						p.R2986*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	9160	-			2987			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.8956A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	50	16.667384	0.99869	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.733	0.733	0.18289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.7771	0.08665	0.0:0.0:0.0:1.0	.	.	.	.	X	2986	.	ENSP00000381008:R2986X	R	-	1	2	MUC16	8943859	0.001000	0.12720	0.001000	0.08648	0.081000	0.17604	-0.063000	0.11655	0.565000	0.29255	0.254000	0.18369	AGA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(622-624)tggfs		Homo sapiens zinc finger protein 563 (ZNF563), mRNA.							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_uc002mtq.2_Intron	p.W208fs	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			3	860	-			208					B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
NOTCH3	4854	broad.mit.edu	37	19	15289676	15289676	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:15289676C>T	ENST00000263388.2	-	23	3870	c.3795G>A	c.(3793-3795)ccG>ccA	p.P1265P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1265	EGF-like 32. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGGACCCGGGCTAGGAC	0.647																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(3793-3795)ccG>ccA		Homo sapiens notch 3 (NOTCH3), mRNA.							35.0	32.0	33.0					19																	15289676		2198	4298	6496	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15289676C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3795G>A	19.37:g.15289676C>T						NOTCH3_uc002nao.1_Silent_p.P1213P	p.P1265P	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		22	3871	-			1265			EGF-like 32.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.3795G>A	CCDS12326.1																																																																																				0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
IL12RB1	3594	broad.mit.edu	37	19	18180414	18180414	+	Silent	SNP	G	G	A	rs371543581		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:18180414G>A	ENST00000600835.2	-	11	1429	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	IL12RB1_ENST00000593993.2_Silent_p.D377D			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	377	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAGGCCCCCGTCCTGGCCCA	0.627																																						uc002nhx.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(1249-1251)gaC>gaT		Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.		G		0,4042		0,0,2021	57.0	63.0	61.0		1131	-8.4	0.0	19		61	2,8348		0,2,4173	no	coding-synonymous	IL12RB1	NM_005535.1		0,2,6194	AA,AG,GG		0.024,0.0,0.0161		377/663	18180414	2,12390	2021	4175	6196	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18180414G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1131C>T	19.37:g.18180414G>A						IL12RB1_uc002nhw.1_Silent_p.D377D|IL12RB1_uc010xqb.1_Silent_p.D377D	p.D417D	NM_005535	NP_005526	P42701	I12R1_HUMAN			10	1302	-			377			Fibronectin type-III 4.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1251C>T	CCDS54232.1																																																																																				0.627	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		
ZNF91	7644	broad.mit.edu	37	19	23544856	23544856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:23544856delG	ENST00000300619.7	-	4	1130	c.925delC	c.(925-927)cttfs	p.L309fs	ZNF91_ENST00000397082.2_Frame_Shift_Del_p.L277fs|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	309					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTTAGCAAGGGTTGAAGAA	0.403																																						uc002nre.3																			0											c.(925-927)cttfs		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							74.0	78.0	76.0					19																	23544856		2162	4283	6445	SO:0001589	frameshift_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544856delG	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.925delC	19.37:g.23544856delG	ENSP00000300619:p.Leu309fs					ZNF91_uc010xrj.2_Frame_Shift_Del_p.L277fs	p.L309fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	1038	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	309					A8K5E1|B7Z6G6	Frame_Shift_Del	DEL	ENST00000300619.7	37	c.925delC	CCDS42541.1																																																																																				0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
GPATCH1	55094	broad.mit.edu	37	19	33604693	33604693	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33604693C>T	ENST00000170564.2	+	14	2227	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	638					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTTGGCTTACCAAGAGTGAAG	0.418																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1912-1914)cCa>cTa		Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.							87.0	81.0	83.0					19																	33604693		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33604693C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1913C>T	19.37:g.33604693C>T	ENSP00000170564:p.Pro638Leu					GPATCH1_uc002nuh.1_Missense_Mutation_p.P15L	p.P638L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			13	2227	+	Esophageal squamous(110;0.137)		638					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1913C>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071061	0.93950	.	.	ENSG00000076650	ENST00000170564	T	0.49139	0.79	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	T	0.74548	-0.3629	10	0.72032	D	0.01	-14.7409	19.1775	0.93609	0.0:1.0:0.0:0.0	.	638;638	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	L	638	ENSP00000170564:P638L	ENSP00000170564:P638L	P	+	2	0	GPATCH1	38296533	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.707000	0.74654	2.781000	0.95711	0.591000	0.81541	CCA		0.418	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
WDR88	126248	broad.mit.edu	37	19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33666419_33666421delTCA	ENST00000355868.3	+	11	1436_1438	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	CTD-2540B15.10_ENST00000590117.1_RNA|WDR88_ENST00000361680.2_3'UTR|AC008738.2_ENST00000577275.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527																																						uc002nui.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1360-1362)tcadel		Homo sapiens WD repeat domain 88 (WDR88), mRNA.																																				SO:0001651	inframe_deletion	126248							g.chr19:33666419_33666421delTCA	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1360_1362delTCA	19.37:g.33666428_33666430delTCA	ENSP00000348129:p.Ser458del					TRNA_Thr_uc021usc.1_5'Flank	p.S458del	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			10	1438_1440	+	Esophageal squamous(110;0.137)		458			Poly-Ser.		Q8NEF8	In_Frame_Del	DEL	ENST00000355868.3	37	c.1360_1362delTCA	CCDS12429.1																																																																																				0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479	
CYP2F1	1572	broad.mit.edu	37	19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	rs142026539		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:41622139G>A	ENST00000331105.2	+	2	118	c.46G>A	c.(46-48)Gtc>Atc	p.V16I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	16					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGCTCTCGTCTGTCTGCT	0.577													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21088	0.0		0.0	False		,,,				2504	0.0					uc002opu.1																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(46-48)Gtc>Atc		Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.		G	ILE/VAL	3,4403	825.9+/-416.6	0,3,2200	156.0	137.0	143.0		46	-5.0	0.0	19	dbSNP_134	143	0,8600		0,0,4300	no	missense	CYP2F1	NM_000774.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	16/492	41622139	3,13003	2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622139G>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.46G>A	19.37:g.41622139G>A	ENSP00000333534:p.Val16Ile					CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_Non-coding_Transcript	p.V16I	NM_000774	NP_000765	P24903	CP2F1_HUMAN			1	102	+			16					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.46G>A	CCDS12572.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	7.045	0.563338	0.13498	6.81E-4	0.0	ENSG00000197446	ENST00000331105	T	0.69306	-0.39	3.86	-4.96	0.03038	.	0.885835	0.09672	N	0.770918	T	0.40473	0.1118	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30031	-0.9992	10	0.17369	T	0.5	.	12.6042	0.56514	0.8311:0.0:0.1689:0.0	.	16;16	Q32MN5;P24903	.;CP2F1_HUMAN	I	16	ENSP00000333534:V16I	ENSP00000333534:V16I	V	+	1	0	CYP2F1	46313979	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-4.618000	0.00207	-0.794000	0.04468	-0.279000	0.10071	GTC		0.577	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		
NLRP8	126205	broad.mit.edu	37	19	56477731	56477731	+	Missense_Mutation	SNP	G	G	A	rs142437909	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:56477731G>A	ENST00000291971.3	+	5	2437	c.2366G>A	c.(2365-2367)cGt>cAt	p.R789H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R789H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	789					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCCGGTGCCGTCTGCAGTGT	0.547													G|||	8	0.00159744	0.0015	0.0086	5008	,	,		17410	0.0		0.0	False		,,,				2504	0.0					uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2365-2367)cGt>cAt		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.		G	HIS/ARG	0,4406		0,0,2203	76.0	76.0	76.0		2366	-3.4	0.0	19	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	789/1049	56477731	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56477731G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2366G>A	19.37:g.56477731G>A	ENSP00000291971:p.Arg789His					NLRP8_uc010etg.3_Missense_Mutation_p.R789H	p.R789H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	4	2437	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	789					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2366G>A	CCDS12937.1	6	0.0027472527472527475	1	0.0020325203252032522	5	0.013812154696132596	0	0.0	0	0.0	G	0.048	-1.258646	0.01445	0.0	1.16E-4	ENSG00000179709	ENST00000291971	T	0.52983	0.64	1.71	-3.42	0.04825	.	.	.	.	.	T	0.12603	0.0306	N	0.11870	0.19	0.09310	N	1	B;B	0.29552	0.248;0.0	B;B	0.18561	0.022;0.0	T	0.14337	-1.0476	9	0.15066	T	0.55	.	0.4502	0.00500	0.4053:0.1759:0.224:0.1948	.	789;789	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	789	ENSP00000291971:R789H	ENSP00000291971:R789H	R	+	2	0	NLRP8	61169543	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.940000	0.01543	-1.808000	0.01234	-0.232000	0.12228	CGT		0.547	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
TRABD2A	129293	broad.mit.edu	37	2	85051303	85051303	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:85051303G>A	ENST00000409520.2	-	6	1150	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R321W	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	370					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										AGAGTGGGCCGTGTGGAGGTC	0.567																																						uc010ysl.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						c.(1108-1110)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.							76.0	81.0	80.0					2																	85051303		2131	4251	6382	SO:0001583	missense	129293					integral to membrane		g.chr2:85051303G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1108C>T	2.37:g.85051303G>A	ENSP00000387075:p.Arg370Trp					C2orf89_uc002sou.4_Missense_Mutation_p.R321W	p.R370W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			5	1197	-			370					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1108C>T		.	.	.	.	.	.	.	.	.	.	g	13.17	2.156264	0.38021	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.23754	1.89;1.9	3.62	1.75	0.24633	.	3.417790	0.01383	U	0.012981	T	0.23289	0.0563	.	.	.	0.09310	N	1	D;D	0.62365	0.963;0.991	B;B	0.43123	0.183;0.409	T	0.19910	-1.0291	9	0.62326	D	0.03	.	4.4875	0.11797	0.1336:0.2593:0.6071:0.0	.	370;321	Q86V40;Q86V40-2	CB089_HUMAN;.	W	321;370	ENSP00000335004:R321W;ENSP00000387075:R370W	ENSP00000335004:R321W	R	-	1	2	C2orf89	84904814	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.174000	0.09839	0.847000	0.35167	0.298000	0.19748	CGG		0.567	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824	
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						uc002syh.4																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aaafs		Homo sapiens transmembrane protein 131 (TMEM131), mRNA.							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348	NP_056163	Q92545	TM131_HUMAN			17	2149	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	
MYO7B	4648	broad.mit.edu	37	2	128384614	128384614	+	Missense_Mutation	SNP	G	G	A	rs201087000		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:128384614G>A	ENST00000409816.2	+	30	4234	c.4202G>A	c.(4201-4203)cGc>cAc	p.R1401H	MYO7B_ENST00000428314.1_Missense_Mutation_p.R1401H|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.R254H|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1401H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1401	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACGCCGCCCGCCTGCAGTGG	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16589	0.0		0.0	False		,,,				2504	0.0					uc002top.3																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(4201-4203)cGc>cAc		Homo sapiens myosin VIIB (MYO7B), mRNA.		G	HIS/ARG	6,4024		0,6,2009	16.0	21.0	19.0		4202	0.8	0.5	2		19	0,8342		0,0,4171	yes	missense	MYO7B	NM_001080527.1	29	0,6,6180	AA,AG,GG		0.0,0.1489,0.0485	benign	1401/2117	128384614	6,12366	2015	4171	6186	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384614G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4202G>A	2.37:g.128384614G>A	ENSP00000386461:p.Arg1401His					MYO7B_uc002toq.1_Missense_Mutation_p.R254H|MYO7B_uc002tor.1_Missense_Mutation_p.R254H	p.R1401H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	30	4255	+	Colorectal(110;0.1)		1401			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4202G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	19.58	3.853534	0.71719	0.001489	0.0	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	4.88	0.787	0.18596	Band 4.1 domain (1);FERM domain (1);	0.359519	0.28521	N	0.015054	D	0.94588	0.8256	L	0.57536	1.79	0.27589	N	0.94932	D	0.71674	0.998	P	0.55161	0.77	D	0.90316	0.4341	10	0.45353	T	0.12	.	14.4022	0.67056	0.0:0.0:0.4953:0.5046	.	1401	Q6PIF6	MYO7B_HUMAN	H	1401;1401;254;1401;254	ENSP00000374175:R1401H;ENSP00000415090:R1401H;ENSP00000386461:R1401H;ENSP00000386850:R254H	ENSP00000272666:R254H	R	+	2	0	MYO7B	128101084	1.000000	0.71417	0.490000	0.27465	0.547000	0.35210	3.632000	0.54287	-0.023000	0.13963	-0.277000	0.10078	CGC		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
MAP3K19	80122	broad.mit.edu	37	2	135738842	135738842	+	Missense_Mutation	SNP	G	G	A	rs372912449		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:135738842G>A	ENST00000375845.3	-	9	3499	c.3469C>T	c.(3469-3471)Cca>Tca	p.P1157S	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Missense_Mutation_p.P18S|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P291S|MAP3K19_ENST00000375844.3_Missense_Mutation_p.P339S|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P289S|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P1044S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCAGGCAATGGCCCAAAACGG	0.418																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3469-3471)Cca>Tca		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.		G	SER/PRO,SER/PRO	0,4406		0,0,2203	123.0	121.0	122.0		1015,3469	5.8	1.0	2		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	YSK4	NM_001018046.1,NM_025052.3	74,74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	339/511,1157/1329	135738842	1,13005	2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738842G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3469C>T	2.37:g.135738842G>A	ENSP00000365005:p.Pro1157Ser					YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc021vpz.1_Missense_Mutation_p.P18S|YSK4_uc002tuh.4_Missense_Mutation_p.P885S|YSK4_uc002tui.4_3'UTR	p.P1157S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3500	-			1157			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3469C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421334	0.62622	0.0	1.16E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000316	T	0.39306	0.1073	L	0.35414	1.06	0.80722	D	1	P;D;P;P;D	0.60575	0.476;0.988;0.669;0.669;0.961	B;D;P;B;D	0.65874	0.241;0.931;0.473;0.376;0.939	T	0.02326	-1.1176	10	0.21540	T	0.41	.	18.9458	0.92621	0.0:0.0:1.0:0.0	.	289;1044;291;339;1157	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	S	1157;1044;339;291;289;547;18	ENSP00000365005:P1157S;ENSP00000351140:P1044S;ENSP00000365004:P339S;ENSP00000376650:P291S;ENSP00000376649:P289S;ENSP00000392827:P547S;ENSP00000321160:P18S	ENSP00000321160:P18S	P	-	1	0	YSK4	135455312	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.614000	0.98353	2.714000	0.92807	0.563000	0.77884	CCA		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
FMNL2	114793	broad.mit.edu	37	2	153463859	153463859	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:153463859G>A	ENST00000288670.9	+	10	1250	c.883G>A	c.(883-885)Gga>Aga	p.G295R		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	295	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCAGGTTTGTGGAGAAAAACA	0.313																																						uc002tye.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(883-885)Gga>Aga		Homo sapiens formin-like 2 (FMNL2), mRNA.							90.0	85.0	87.0					2																	153463859		1851	4099	5950	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153463859G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.883G>A	2.37:g.153463859G>A	ENSP00000288670:p.Gly295Arg						p.G295R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			9	1250	+			295			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.883G>A	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454692	0.63290	.	.	ENSG00000157827	ENST00000288670	D	0.87256	-2.23	5.68	5.68	0.88126	.	0.297548	0.38837	N	0.001551	T	0.81678	0.4873	N	0.20881	0.62	0.80722	D	1	B	0.29646	0.253	B	0.30646	0.118	T	0.77803	-0.2451	10	0.35671	T	0.21	.	19.3863	0.94557	0.0:0.0:1.0:0.0	.	295	Q96PY5-3	.	R	295	ENSP00000288670:G295R	ENSP00000288670:G295R	G	+	1	0	FMNL2	153172105	0.986000	0.35501	0.999000	0.59377	0.995000	0.86356	2.585000	0.46111	2.694000	0.91930	0.557000	0.71058	GGA		0.313	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	
AC010731.4	0	broad.mit.edu	37	2	207509344	207509344	+	lincRNA	SNP	G	G	A	rs376138541		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:207509344G>A	ENST00000543490.1	+	0	559																											TCTCAGCAGCGCAGCCACAGC	0.488																																						uc010fuh.1																			0											c.(382-384)gcG>gcA		Homo sapiens hCG1657980 (LOC200726), mRNA.		G		0,4116		0,0,2058	47.0	49.0	48.0		384	-3.3	0.0	2		48	1,8421		0,1,4210	no	coding-synonymous	LOC200726	NM_001102659.1		0,1,6268	AA,AG,GG		0.0119,0.0,0.0080		128/182	207509344	1,12537	2058	4211	6269			200726							g.chr2:207509344G>A																													2.37:g.207509344G>A							p.A128A	NM_001102659	NP_001096129				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)	1	559	+									Silent	SNP	ENST00000543490.1	37	c.384G>A																																																																																					0.488	AC010731.4-201	KNOWN	basic	lincRNA	lincRNA			
R3HDML	140902	broad.mit.edu	37	20	42965819	42965819	+	Missense_Mutation	SNP	G	G	A	rs375615013		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:42965819G>A	ENST00000217043.2	+	1	194	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	8						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCAGCACCGTGGGCCTGGC	0.647																																						uc002xls.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(22-24)Gtg>Atg		Homo sapiens R3H domain containing-like (R3HDML), mRNA.		G	MET/VAL	1,4393		0,1,2196	40.0	40.0	40.0		22	0.6	0.8	20		40	0,8590		0,0,4295	no	missense	R3HDML	NM_178491.2	21	0,1,6491	AA,AG,GG		0.0,0.0228,0.0077	benign	8/254	42965819	1,12983	2197	4295	6492	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42965819G>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.22G>A	20.37:g.42965819G>A	ENSP00000217043:p.Val8Met						p.V8M	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		0	194	+		Myeloproliferative disorder(115;0.028)	8						Missense_Mutation	SNP	ENST00000217043.2	37	c.22G>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	G	5.894	0.348968	0.11182	2.28E-4	0.0	ENSG00000101074	ENST00000217043	T	0.08008	3.14	5.18	0.643	0.17770	.	0.702414	0.13657	N	0.371852	T	0.03651	0.0104	N	0.16478	0.41	0.09310	N	0.999997	B	0.27013	0.166	B	0.14023	0.01	T	0.39921	-0.9590	10	0.40728	T	0.16	.	0.1901	0.00133	0.2825:0.1993:0.279:0.2392	.	8	Q9H3Y0	CRSPL_HUMAN	M	8	ENSP00000217043:V8M	ENSP00000217043:V8M	V	+	1	0	R3HDML	42399233	0.000000	0.05858	0.753000	0.31225	0.246000	0.25737	-0.473000	0.06615	0.175000	0.19841	-0.532000	0.04303	GTG		0.647	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491	
SLC17A9	63910	broad.mit.edu	37	20	61595026	61595026	+	Silent	SNP	C	C	T	rs199720748	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:61595026C>T	ENST00000370351.4	+	7	947	c.816C>T	c.(814-816)gaC>gaT	p.D272D	SLC17A9_ENST00000370349.3_Silent_p.D266D|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	272					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTTCCCCGACGCCAAGGTGA	0.667													C|||	8	0.00159744	0.0045	0.0	5008	,	,		17379	0.0		0.0	False		,,,				2504	0.002					uc002yea.4																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(814-816)gaC>gaT		Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.		C		16,4152		0,16,2068	34.0	37.0	36.0		816	0.3	0.4	20		36	0,8400		0,0,4200	no	coding-synonymous	SLC17A9	NM_022082.3		0,16,6268	TT,TC,CC		0.0,0.3839,0.1273		272/437	61595026	16,12552	2084	4200	6284	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61595026C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.816C>T	20.37:g.61595026C>T						SLC17A9_uc002ydz.4_Silent_p.D266D|SLC17A9_uc011aap.1_Silent_p.D292D	p.D272D	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			6	1000	+			272					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.816C>T	CCDS42901.1																																																																																				0.667	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
PWP2	5822	broad.mit.edu	37	21	45545899	45545899	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45545899T>C	ENST00000291576.7	+	16	2100	c.1973T>C	c.(1972-1974)tTg>tCg	p.L658S	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	658					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGGAATTTTTGAACCGAAGA	0.537																																						uc002zeb.3																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1972-1974)tTg>tCg		Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.							89.0	88.0	88.0					21																	45545899		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45545899T>C		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1973T>C	21.37:g.45545899T>C	ENSP00000291576:p.Leu658Ser						p.L658S	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	15	2063	+			658					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1973T>C	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314380	0.81358	.	.	ENSG00000241945	ENST00000291576	T	0.76186	-1.0	4.55	4.55	0.56014	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	D	0.000001	D	0.88366	0.6417	M	0.92026	3.265	0.49798	D	0.999824	D	0.89917	1.0	D	0.91635	0.999	D	0.91002	0.4843	10	0.87932	D	0	-2.9702	13.8805	0.63680	0.0:0.0:0.0:1.0	.	658	Q15269	PWP2_HUMAN	S	658	ENSP00000291576:L658S	ENSP00000291576:L658S	L	+	2	0	PWP2	44370327	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.537000	0.73847	1.813000	0.52934	0.482000	0.46254	TTG		0.537	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049	
TSPEAR	54084	broad.mit.edu	37	21	45919792	45919792	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45919792C>T	ENST00000323084.4	-	12	1949	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	628					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGCTGTGCACCGCCACGAAGC	0.706																																						uc002zfe.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1882-1884)gcG>gcA		Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.							18.0	17.0	17.0					21																	45919792		2182	4271	6453	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45919792C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1884G>A	21.37:g.45919792C>T						TSPEAR_uc010gpv.1_Silent_p.A560A	p.A628A	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			11	1950	-			628						Silent	SNP	ENST00000323084.4	37	c.1884G>A	CCDS13712.1																																																																																				0.706	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
ZNF280B	140883	broad.mit.edu	37	22	22843649	22843649	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:22843649G>A	ENST00000406426.1	-	4	817	c.75C>T	c.(73-75)gaC>gaT	p.D25D	ZNF280B_ENST00000360412.2_Silent_p.D25D			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGCATCTTCGTCATCTACTT	0.378																																						uc002zwc.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(73-75)gaC>gaT		Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.							153.0	132.0	139.0					22																	22843649		2203	4300	6503	SO:0001819	synonymous_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843649G>A	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.75C>T	22.37:g.22843649G>A						abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Silent_p.D25D	p.D25D	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	851	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	25						Silent	SNP	ENST00000406426.1	37	c.75C>T	CCDS13799.1																																																																																				0.378	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764	
SCUBE1	80274	broad.mit.edu	37	22	43603579	43603579	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:43603579C>T	ENST00000360835.4	-	21	2901	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	925					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGTACAGGCGCCCATCGCGCA	0.597																																						uc003bdt.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2773-2775)ggG>ggA		Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.							119.0	115.0	116.0					22																	43603579		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43603579C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2775G>A	22.37:g.43603579C>T							p.G925G	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			20	2902	-		all_neural(38;0.0414)|Ovarian(80;0.07)	925					Q5R336	Silent	SNP	ENST00000360835.4	37	c.2775G>A	CCDS14048.1																																																																																				0.597	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050	
MOV10L1	54456	broad.mit.edu	37	22	50588117	50588117	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:50588117G>A	ENST00000262794.5	+	20	2784	c.2701G>A	c.(2701-2703)Ggg>Agg	p.G901R	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G901R|MOV10L1_ENST00000354853.2_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G901R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G881R|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G28R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	901					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATTCCTCTGGGGCTGATGTC	0.562											OREG0026674	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2701-2703)Ggg>Agg		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.							137.0	103.0	115.0					22																	50588117		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50588117G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2701G>A	22.37:g.50588117G>A	ENSP00000262794:p.Gly901Arg		OREG0026674	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	MOV10L1_uc003bjk.4_Missense_Mutation_p.G901R|MOV10L1_uc011arp.2_Missense_Mutation_p.G881R|MOV10L1_uc003bjl.3_Missense_Mutation_p.G28R|MOV10L1_uc003bjm.1_5'UTR	p.G901R	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	19	2784	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	901					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2701G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433529	0.83776	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.79	5.79	0.91817	.	0.136192	0.64402	D	0.000002	D	0.83547	0.5278	N	0.17345	0.48	0.80722	D	1	D;P;D;D	0.89917	1.0;0.846;1.0;0.999	D;P;D;D	0.83275	0.996;0.496;0.996;0.989	D	0.84720	0.0739	10	0.49607	T	0.09	-44.8164	20.031	0.97536	0.0:0.0:1.0:0.0	.	881;28;901;901	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	R	901;901;901;881;28	ENSP00000438978:G901R;ENSP00000262794:G901R;ENSP00000379199:G901R;ENSP00000438542:G881R;ENSP00000379193:G28R	ENSP00000262794:G901R	G	+	1	0	MOV10L1	48930244	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.526000	0.60566	2.728000	0.93425	0.561000	0.74099	GGG		0.562	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
DNAH12	201625	broad.mit.edu	37	3	57493504	57493504	+	Missense_Mutation	SNP	C	C	A	rs373483492		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:57493504C>A	ENST00000351747.2	-	8	943	c.763G>T	c.(763-765)Gca>Tca	p.A255S	DNAH12_ENST00000311202.6_Missense_Mutation_p.A255S|DNAH12_ENST00000389536.4_Missense_Mutation_p.A255S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	255	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTCTTCTGCGTTTCTAGTT	0.333																																						uc003dit.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(763-765)Gca>Tca		Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.		C	SER/ALA,SER/ALA	1,4405	2.1+/-5.4	0,1,2202	162.0	152.0	156.0		763,763	0.9	0.9	3		156	0,8600		0,0,4300	no	missense,missense	DNAH12	NM_198564.3,NM_178504.4	99,99	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign,benign	255/458,255/3093	57493504	1,13005	2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57493504C>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.763G>T	3.37:g.57493504C>A	ENSP00000295937:p.Ala255Ser					DNAH12_uc003diu.2_Missense_Mutation_p.A255S	p.A255S	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			7	944	-			255			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.763G>T		.	.	.	.	.	.	.	.	.	.	C	14.81	2.647472	0.47258	2.27E-4	0.0	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.24151	2.04;1.87;3.33;2.76	5.45	0.859	0.19036	.	0.613258	0.14378	N	0.323308	T	0.15392	0.0371	L	0.35854	1.095	0.80722	D	1	B;B	0.33494	0.414;0.002	B;B	0.28991	0.097;0.004	T	0.08868	-1.0701	10	0.31617	T	0.26	.	5.323	0.15891	0.2639:0.5136:0.0:0.2224	.	255;255	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	S	255	ENSP00000295937:A255S;ENSP00000418137:A255S;ENSP00000374187:A255S;ENSP00000312554:A255S	ENSP00000312554:A255S	A	-	1	0	DNAH12	57468544	0.960000	0.32886	0.891000	0.34965	0.987000	0.75469	0.123000	0.15708	0.224000	0.20940	0.655000	0.94253	GCA		0.333	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
MORC1	27136	broad.mit.edu	37	3	108682419	108682419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:108682419delT	ENST00000483760.1	-	26	2621	c.2578delA	c.(2578-2580)atafs	p.I860fs	MORC1_ENST00000232603.5_Frame_Shift_Del_p.I881fs					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCTCTTTATTTTTTTTTCA	0.284																																						uc003dxl.3																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2641-2643)atafs		Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.							69.0	71.0	70.0					3																	108682419		2202	4297	6499	SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682419delT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2578delA	3.37:g.108682419delT	ENSP00000417282:p.Ile860fs					MORC1_uc011bhn.2_Frame_Shift_Del_p.I860fs	p.I881fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			26	2728	-			881						Frame_Shift_Del	DEL	ENST00000483760.1	37	c.2641delA																																																																																					0.284	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
SEMA5B	54437	broad.mit.edu	37	3	122632727	122632727	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:122632727C>T	ENST00000357599.3	-	15	2496	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V704M|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V758M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	704	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCTTGCCCACGCAGATGCGG	0.657																																						uc003efz.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(2110-2112)Gtg>Atg		Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.							49.0	53.0	52.0					3																	122632727		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632727C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2110G>A	3.37:g.122632727C>T	ENSP00000350215:p.Val704Met					SEMA5B_uc011bju.1_Missense_Mutation_p.V646M|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.V704M|SEMA5B_uc010hro.1_Missense_Mutation_p.V646M|SEMA5B_uc003efy.1_5'Flank	p.V704M	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2414	-			704			TSP type-1 1.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2110G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676421	0.88445	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.02	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.75447	2.3	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73014	-0.4116	10	0.87932	D	0	.	14.4169	0.67155	0.0:0.8516:0.1484:0.0	.	646;704;704	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	M	704;704;646;758;704	ENSP00000350215:V704M;ENSP00000195173:V704M;ENSP00000389588:V758M;ENSP00000377208:V704M	ENSP00000195173:V704M	V	-	1	0	SEMA5B	124115417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.633000	0.83260	1.306000	0.44926	0.555000	0.69702	GTG		0.657	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
RTP1	132112	broad.mit.edu	37	3	186917605	186917605	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:186917605G>A	ENST00000312295.4	+	2	569	c.539G>A	c.(538-540)cGc>cAc	p.R180H	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTGGCCAGCCGCCAGGACAAC	0.682																																						uc003frg.3																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(538-540)cGc>cAc		Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.							25.0	25.0	25.0					3																	186917605		2200	4293	6493	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917605G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.539G>A	3.37:g.186917605G>A	ENSP00000311712:p.Arg180His						p.R180H	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	569	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		180						Missense_Mutation	SNP	ENST00000312295.4	37	c.539G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735062	0.69189	.	.	ENSG00000175077	ENST00000312295	T	0.23348	1.91	5.7	5.7	0.88788	.	0.381494	0.30649	N	0.009169	T	0.43055	0.1230	L	0.44542	1.39	0.30493	N	0.771205	D	0.89917	1.0	D	0.85130	0.997	T	0.30534	-0.9975	10	0.37606	T	0.19	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	180	P59025	RTP1_HUMAN	H	180	ENSP00000311712:R180H	ENSP00000311712:R180H	R	+	2	0	RTP1	188400299	0.594000	0.26849	1.000000	0.80357	0.960000	0.62799	0.731000	0.26058	2.711000	0.92665	0.561000	0.74099	CGC		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
CCDC149	91050	broad.mit.edu	37	4	24878210	24878210	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:24878210T>C	ENST00000389609.4	-	3	316	c.173A>G	c.(172-174)aAt>aGt	p.N58S	CCDC149_ENST00000428116.2_Missense_Mutation_p.N3S|CCDC149_ENST00000504487.1_Missense_Mutation_p.N58S|CCDC149_ENST00000502801.1_Missense_Mutation_p.N58S	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	3										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCGGAGCTGATTGGCCATGAG	0.517																																						uc003grc.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(172-174)aAt>aGt		Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.							145.0	128.0	134.0					4																	24878210		2203	4300	6503	SO:0001583	missense	91050							g.chr4:24878210T>C		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.173A>G	4.37:g.24878210T>C	ENSP00000374260:p.Asn58Ser					CCDC149_uc003grd.3_Missense_Mutation_p.N58S|CCDC149_uc011bxr.2_Missense_Mutation_p.N58S|CCDC149_uc003gre.3_Missense_Mutation_p.N3S	p.N58S	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN			1	272	-		Breast(46;0.173)	58					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	c.173A>G	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518170	0.85495	.	.	ENSG00000181982	ENST00000504487;ENST00000428116;ENST00000389609;ENST00000502801;ENST00000503881	T	0.21361	2.01	5.41	5.41	0.78517	.	0.000000	0.85682	U	0.000000	T	0.41880	0.1178	L	0.57536	1.79	0.50171	D	0.999858	D;D;D	0.76494	0.992;0.999;0.99	P;D;P	0.79108	0.903;0.992;0.871	T	0.13282	-1.0515	10	0.36615	T	0.2	-12.3403	14.6338	0.68676	0.0:0.0:0.0:1.0	.	3;58;58	Q6ZUS6;D6RIA9;G5EA04	CC149_HUMAN;.;.	S	58;3;58;58;3	ENSP00000427529:N58S	ENSP00000374260:N58S	N	-	2	0	CCDC149	24487308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.980000	0.88113	2.041000	0.60428	0.533000	0.62120	AAT		0.517	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463	
EPHA5	2044	broad.mit.edu	37	4	66217156	66217156	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:66217156C>A	ENST00000273854.3	-	14	3059	c.2459G>T	c.(2458-2460)gGa>gTa	p.G820V	EPHA5_ENST00000511294.1_Missense_Mutation_p.G821V|EPHA5_ENST00000354839.4_Missense_Mutation_p.G798V|EPHA5_ENST00000432638.2_Missense_Mutation_p.G657V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			G -> E (in Ref. 3; CAD97914). {ECO:0000305}.	axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCGGGAAAGTCCAAAGTCAGA	0.443										TSP Lung(17;0.13)																												uc003hcy.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2458-2460)gGa>gTa		Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.							133.0	117.0	122.0					4																	66217156		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217156C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2459G>T	4.37:g.66217156C>A	ENSP00000273854:p.Gly820Val	TSP Lung(17;0.13)				EPHA5_uc003hcx.3_Missense_Mutation_p.G752V|EPHA5_uc003hcz.3_Missense_Mutation_p.G798V|EPHA5_uc011cah.2_Missense_Mutation_p.G821V|EPHA5_uc011cai.2_Missense_Mutation_p.G799V|EPHA5_uc003hda.2_Missense_Mutation_p.G821V	p.G820V	NM_004439	NP_004430	P54756	EPHA5_HUMAN			13	2652	-			820	G -> E (in Ref. 3; CAD97914).		Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2459G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081524	0.94050	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000019	D	0.98403	0.9469	H	0.99838	4.83	0.80722	D	1	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;0.997	D	0.99056	1.0829	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	799;821;798;820	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	V	820;657;798;821	ENSP00000273854:G820V;ENSP00000389208:G657V;ENSP00000346899:G798V;ENSP00000427638:G821V	ENSP00000273854:G820V	G	-	2	0	EPHA5	65899751	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.843000	0.97960	0.585000	0.79938	GGA		0.443	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
GK2	2712	broad.mit.edu	37	4	80328891	80328891	+	Missense_Mutation	SNP	C	C	A	rs147498656		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:80328891C>A	ENST00000358842.3	-	1	481	c.464G>T	c.(463-465)cGt>cTt	p.R155L		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATCCAACGAAGTTTTAC	0.408																																						uc003hlu.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(463-465)cGt>cTt		Homo sapiens glycerol kinase 2 (GK2), mRNA.							136.0	131.0	133.0					4																	80328891		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328891C>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.464G>T	4.37:g.80328891C>A	ENSP00000351706:p.Arg155Leu						p.R155L	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			0	482	-			155					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.464G>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516987	0.64634	.	.	ENSG00000196475	ENST00000358842	T	0.55588	0.51	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, conserved site (1);Carbohydrate kinase, FGGY, N-terminal (1);	0.055575	0.64402	D	0.000001	T	0.66406	0.2786	L	0.57130	1.785	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	T	0.69676	-0.5081	10	0.66056	D	0.02	-14.6367	13.8928	0.63750	0.0:1.0:0.0:0.0	.	155	Q14410	GLPK2_HUMAN	L	155	ENSP00000351706:R155L	ENSP00000351706:R155L	R	-	2	0	GK2	80547915	1.000000	0.71417	0.972000	0.41901	0.781000	0.44180	5.502000	0.66956	2.418000	0.82041	0.585000	0.79938	CGT		0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
SPARCL1	8404	broad.mit.edu	37	4	88414795	88414795	+	Missense_Mutation	SNP	T	T	C	rs201382853	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:88414795T>C	ENST00000282470.6	-	4	1627	c.1157A>G	c.(1156-1158)cAa>cGa	p.Q386R	SPARCL1_ENST00000503414.1_Missense_Mutation_p.Q261R|SPARCL1_ENST00000418378.1_Missense_Mutation_p.Q386R	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	386					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTTCTCTTTGCTCCTCAAT	0.443													T|||	6	0.00119808	0.0	0.0	5008	,	,		21554	0.006		0.0	False		,,,				2504	0.0					uc010ikm.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1156-1158)cAa>cGa		Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.							73.0	77.0	76.0					4																	88414795		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414795T>C	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1157A>G	4.37:g.88414795T>C	ENSP00000282470:p.Gln386Arg					SPARCL1_uc011cdc.2_Missense_Mutation_p.Q261R|SPARCL1_uc003hqs.4_Missense_Mutation_p.Q386R|SPARCL1_uc011cdd.2_Missense_Mutation_p.Q261R	p.Q386R	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	4	1729	-			386					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1157A>G	CCDS3622.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	T	11.54	1.669726	0.29693	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.90563	-2.69;-2.69;-2.69	4.32	3.15	0.36227	.	1.431250	0.04398	N	0.363640	T	0.79997	0.4543	N	0.24115	0.695	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.33042	0.157;0.058	T	0.71331	-0.4625	10	0.23302	T	0.38	0.6276	7.9482	0.29999	0.0:0.0:0.2506:0.7494	.	386;386	Q8N4S1;Q14515	.;SPRL1_HUMAN	R	386;386;261;261	ENSP00000282470:Q386R;ENSP00000414856:Q386R;ENSP00000422903:Q261R	ENSP00000282470:Q386R	Q	-	2	0	SPARCL1	88633819	0.040000	0.19996	0.009000	0.14445	0.091000	0.18340	0.513000	0.22770	0.968000	0.38212	0.533000	0.62120	CAA		0.443	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
FAM198B	51313	broad.mit.edu	37	4	159052126	159052126	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:159052126T>C	ENST00000296530.8	-	4	1785	c.1164A>G	c.(1162-1164)agA>agG	p.R388R	FAM198B_ENST00000393807.5_Silent_p.R396R|FAM198B_ENST00000585682.1_Silent_p.R388R|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	388						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCTTGCGAGGTCTGAATCCAC	0.413																																						uc003ipq.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(1186-1188)agA>agG		Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.							103.0	94.0	97.0					4																	159052126		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159052126T>C		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1164A>G	4.37:g.159052126T>C						FAM198B_uc003ipp.4_Silent_p.R388R|FAM198B_uc003ipr.4_Silent_p.R388R	p.R396R	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN			4	1595	-			388					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.1188A>G	CCDS3798.1																																																																																				0.413	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
AHRR	57491	broad.mit.edu	37	5	428029	428029	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:428029C>T	ENST00000505113.1	+	8	872	c.828C>T	c.(826-828)ccC>ccT	p.P276P	AHRR_ENST00000506456.1_Silent_p.P132P|AHRR_ENST00000512529.1_Silent_p.P122P|AHRR_ENST00000316418.5_Silent_p.P294P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	276					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCGGCACCCGTTCTCCTCC	0.577																																						uc003jav.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(880-882)ccC>ccT		Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.							26.0	31.0	30.0					5																	428029		1972	4132	6104	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428029C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.828C>T	5.37:g.428029C>T						AHRR_uc003jaw.3_Silent_p.P276P|AHRR_uc010isy.3_Silent_p.P122P|AHRR_uc010isz.3_Silent_p.P272P|AHRR_uc003jax.3_Silent_p.P35P|AHRR_uc003jay.3_Silent_p.P132P	p.P294P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		8	925	+			276					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.882C>T	CCDS56355.1																																																																																				0.577	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731	
SLC6A19	340024	broad.mit.edu	37	5	1216774	1216774	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:1216774C>T	ENST00000304460.10	+	7	1045	c.989C>T	c.(988-990)aCa>aTa	p.T330I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	330					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCGCGCCACACAGCGCTAC	0.607																																						uc003jbw.4																			0		p.A329T(2)|p.T330T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(988-990)aCa>aTa		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							222.0	160.0	181.0					5																	1216774		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216774C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.989C>T	5.37:g.1216774C>T	ENSP00000305302:p.Thr330Ile						p.T330I	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	1045	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		330					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.989C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687440	0.48097	.	.	ENSG00000174358	ENST00000304460	T	0.74947	-0.89	4.61	4.61	0.57282	.	0.047280	0.85682	D	0.000000	T	0.81828	0.4905	M	0.83312	2.635	0.53005	D	0.999966	P	0.41159	0.74	P	0.46339	0.513	D	0.85847	0.1401	10	0.87932	D	0	.	17.4396	0.87562	0.0:1.0:0.0:0.0	.	330	Q695T7	S6A19_HUMAN	I	330	ENSP00000305302:T330I	ENSP00000305302:T330I	T	+	2	0	SLC6A19	1269774	1.000000	0.71417	0.836000	0.33094	0.015000	0.08874	5.827000	0.69300	2.112000	0.64535	0.491000	0.48974	ACA		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
GZMK	3003	broad.mit.edu	37	5	54329635	54329635	+	Missense_Mutation	SNP	G	G	A	rs200562138		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:54329635G>A	ENST00000231009.2	+	5	746	c.676G>A	c.(676-678)Gct>Act	p.A226T	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A226S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCTTCCACGCTATAGTCTC	0.453																																						uc003jpl.1																			1	Substitution - Missense(1)	p.A226S(2)	lung(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(676-678)Gct>Act		Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	102.0	93.0	96.0		676	5.3	0.7	5		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMK	NM_002104.2	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	226/265	54329635	2,13004	2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54329635G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.676G>A	5.37:g.54329635G>A	ENSP00000231009:p.Ala226Thr						p.A226T	NM_002104	NP_002095	P49863	GRAK_HUMAN			4	720	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	226			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.676G>A	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733630	0.96865	2.27E-4	1.16E-4	ENSG00000113088	ENST00000231009	D	0.88975	-2.45	5.28	5.28	0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.065450	0.64402	D	0.000018	D	0.90494	0.7022	L	0.49778	1.585	0.42889	D	0.994198	D	0.61080	0.989	P	0.53518	0.728	D	0.91543	0.5251	10	0.87932	D	0	.	16.4636	0.84071	0.0:0.0:1.0:0.0	.	226	P49863	GRAK_HUMAN	T	226	ENSP00000231009:A226T	ENSP00000231009:A226T	A	+	1	0	GZMK	54365392	0.998000	0.40836	0.687000	0.30102	0.559000	0.35586	7.069000	0.76755	2.738000	0.93877	0.655000	0.94253	GCT		0.453	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(11)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Aga		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						52.0	58.0	56.0					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	p.G376R	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1706	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
SLCO4C1	353189	broad.mit.edu	37	5	101599411	101599411	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:101599411G>A	ENST00000310954.6	-	4	1162	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAACATCAATGTATATGGTTA	0.358																																						uc003knm.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(874-876)taC>taT		Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.							168.0	164.0	166.0					5																	101599411		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101599411G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.876C>T	5.37:g.101599411G>A							p.Y292Y	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	3	1163	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	292						Silent	SNP	ENST00000310954.6	37	c.876C>T	CCDS34205.1																																																																																				0.358	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
PCDHB5	26167	broad.mit.edu	37	5	140516927	140516927	+	Missense_Mutation	SNP	C	C	G	rs138297526		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140516927C>G	ENST00000231134.5	+	1	2128	c.1911C>G	c.(1909-1911)caC>caG	p.H637Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1909-1911)caC>caG		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							25.0	29.0	28.0					5																	140516927		2097	4091	6188	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516927C>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1911C>G	5.37:g.140516927C>G	ENSP00000231134:p.His637Gln						p.H637Q	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2128	+			637			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1911C>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.487677	0.01018	.	.	ENSG00000113209	ENST00000231134	T	0.52526	0.66	4.71	-1.85	0.07784	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.24084	0.0583	N	0.04686	-0.185	0.25943	N	0.982844	B	0.21225	0.053	B	0.26517	0.07	T	0.26950	-1.0088	9	0.02654	T	1	.	15.7741	0.78198	0.0:0.264:0.6662:0.0698	.	637	Q9Y5E4	PCDB5_HUMAN	Q	637	ENSP00000231134:H637Q	ENSP00000231134:H637Q	H	+	3	2	PCDHB5	140497111	0.000000	0.05858	0.957000	0.39632	0.760000	0.43138	-3.019000	0.00643	-0.105000	0.12132	-0.467000	0.05162	CAC		0.697	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB7	56129	broad.mit.edu	37	5	140554075	140554075	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140554075C>T	ENST00000231137.3	+	1	1833	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.721																																						uc003lit.3																			0		p.D553Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1657-1659)gaC>gaT		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							28.0	33.0	31.0					5																	140554075		2196	4292	6488	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554075C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1659C>T	5.37:g.140554075C>T							p.D553D	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1833	+			553			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1659C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	7.482	0.648880	0.14516	.	.	ENSG00000113212	ENST00000543636	.	.	.	4.3	0.887	0.19200	.	.	.	.	.	T	0.62245	0.2412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62421	-0.6858	5	0.87932	D	0	.	7.3491	0.26680	0.0:0.4908:0.0:0.5092	.	.	.	.	M	336	.	ENSP00000440828:T336M	T	+	2	0	PCDHB7	140534259	0.000000	0.05858	0.854000	0.33618	0.931000	0.56810	-0.339000	0.07832	0.384000	0.24942	0.449000	0.29647	ACG		0.721	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHGA2	56113	broad.mit.edu	37	5	140720777	140720777	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140720777C>T	ENST00000394576.2	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	747					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGGGTTCGGGCTTTCCT	0.627																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2239-2241)Cgg>Tgg		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							71.0	75.0	74.0					5																	140720777		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720777C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2239C>T	5.37:g.140720777C>T	ENSP00000378077:p.Arg747Trp					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.R747W|PCDHGC5_uc011dap.2_5'Flank	p.R747W	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2424	+			757					Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2239C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.554	1.116803	0.20795	.	.	ENSG00000081853	ENST00000394576	T	0.48836	0.8	5.39	3.51	0.40186	.	0.196550	0.24443	U	0.038492	T	0.52837	0.1759	M	0.81179	2.53	0.09310	N	1	B;D	0.58970	0.419;0.984	B;P	0.45971	0.279;0.499	T	0.53899	-0.8373	10	0.66056	D	0.02	.	10.5241	0.44936	0.1501:0.7056:0.1443:0.0	.	747;747	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	W	747	ENSP00000378077:R747W	ENSP00000378077:R747W	R	+	1	2	PCDHGA2	140700961	0.001000	0.12720	0.014000	0.15608	0.001000	0.01503	0.959000	0.29240	1.256000	0.44068	-0.479000	0.04858	CGG		0.627	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					uc021yty.1																			0											c.(370-372)Agg>Tgg		Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																																						3137							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W	p.R124W							4	388	+									Missense_Mutation	SNP	ENST00000376797.3	37	c.370A>T																																																																																					0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751	
DNAH8	1769	broad.mit.edu	37	6	38850799	38850799	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:38850799T>G	ENST00000359357.3	+	52	7575	c.7321T>G	c.(7321-7323)Ttg>Gtg	p.L2441V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L2405V|DNAH8_ENST00000449981.2_Missense_Mutation_p.L2658V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2441	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAAATTTTTTGATAGACAC	0.323																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7972-7974)Ttg>Gtg		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							85.0	97.0	93.0					6																	38850799		2203	4293	6496	SO:0001583	missense	1769							g.chr6:38850799T>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7321T>G	6.37:g.38850799T>G	ENSP00000352312:p.Leu2441Val					DNAH8_uc003ooe.2_Missense_Mutation_p.L2441V	p.L2658V	NM_001206927	NP_001193856					53	8081	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7972T>G		.	.	.	.	.	.	.	.	.	.	T	18.65	3.670395	0.67814	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.15487	3.41;2.42;2.42;2.42	5.87	1.93	0.25924	.	0.000000	0.64402	D	0.000001	T	0.27454	0.0674	M	0.81802	2.56	0.51767	D	0.99993	D	0.89917	1.0	D	0.97110	1.0	T	0.04203	-1.0969	10	0.52906	T	0.07	.	9.2217	0.37382	0.0:0.2211:0.0:0.7789	.	2441	Q96JB1	DYH8_HUMAN	V	2646;2646;2441;2405	ENSP00000415331:L2646V;ENSP00000333363:L2646V;ENSP00000352312:L2441V;ENSP00000402294:L2405V	ENSP00000333363:L2646V	L	+	1	2	DNAH8	38958777	0.988000	0.35896	0.992000	0.48379	0.969000	0.65631	0.460000	0.21924	0.395000	0.25257	0.528000	0.53228	TTG		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
SLC35B2	347734	broad.mit.edu	37	6	44222858	44222858	+	Frame_Shift_Del	DEL	T	T	-	rs200469836		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:44222858delT	ENST00000393812.3	-	4	1027	c.884delA	c.(883-885)tatfs	p.Y295fs	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.Y202fs|SLC35B2_ENST00000537814.1_Frame_Shift_Del_p.Y162fs	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	295					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGACATCTTATAGGCAAACAG	0.532																																						uc003oxd.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(883-885)tatfs		Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.							76.0	71.0	73.0					6																	44222858		2203	4300	6503	SO:0001589	frameshift_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222858delT	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.884delA	6.37:g.44222858delT	ENSP00000377401:p.Tyr295fs					SLC35B2_uc011dvt.2_Frame_Shift_Del_p.Y198fs|SLC35B2_uc011dvu.2_Frame_Shift_Del_p.Y162fs|SLC35B2_uc021yzy.1_5'Flank	p.Y295fs	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	1020	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		295					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Frame_Shift_Del	DEL	ENST00000393812.3	37	c.884delA	CCDS34462.1																																																																																				0.532	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2		
GSTA5	221357	broad.mit.edu	37	6	52699018	52699018	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:52699018C>T	ENST00000370989.2	-	4	364	c.335G>A	c.(334-336)tGt>tAt	p.C112Y	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.C112Y			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	112	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTCTGGTTGACATATGAGCAG	0.373																																						uc003pba.1																			0		p.C112R(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(334-336)tGt>tAt		Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	Glutathione(DB00143)						215.0	206.0	209.0					6																	52699018		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52699018C>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.335G>A	6.37:g.52699018C>T	ENSP00000360028:p.Cys112Tyr						p.C112Y	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			4	405	-	Lung NSC(77;0.0912)		112			GST C-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.335G>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	3.008	-0.204554	0.06180	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01981	4.52;4.52	2.58	1.66	0.24008	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.777490	0.02492	N	0.089545	T	0.01421	0.0046	M	0.74881	2.28	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.45527	-0.9255	10	0.54805	T	0.06	.	4.9561	0.14041	0.0:0.4358:0.4307:0.1334	.	112	Q7RTV2	GSTA5_HUMAN	Y	112	ENSP00000360028:C112Y;ENSP00000284562:C112Y	ENSP00000284562:C112Y	C	-	2	0	GSTA5	52806977	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-4.423000	0.00236	0.386000	0.24997	0.184000	0.17185	TGT		0.373	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699	
MYO6	4646	broad.mit.edu	37	6	76545638	76545638	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:76545638G>C	ENST00000369977.3	+	7	657	c.518G>C	c.(517-519)gGa>gCa	p.G173A	MYO6_ENST00000369975.1_Missense_Mutation_p.G173A|MYO6_ENST00000369985.4_Missense_Mutation_p.G173A|MYO6_ENST00000369981.3_Missense_Mutation_p.G173A	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	173	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCTATGGAACAGGTCAA	0.279																																						uc003pih.1																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(517-519)gGa>gCa		Homo sapiens myosin VI (MYO6), mRNA.							118.0	117.0	117.0					6																	76545638		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76545638G>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.518G>C	6.37:g.76545638G>C	ENSP00000358994:p.Gly173Ala					MYO6_uc003pig.1_Missense_Mutation_p.G173A|MYO6_uc003pii.1_Missense_Mutation_p.G173A	p.G173A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	6	797	+		all_hematologic(105;0.189)	173			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.518G>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217907	0.79352	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.29	4.29	0.51040	.	0.108387	0.64402	D	0.000006	D	0.89107	0.6621	L	0.49513	1.565	0.80722	D	1	D;D	0.71674	0.958;0.998	P;D	0.69654	0.714;0.965	D	0.88563	0.3124	10	0.40728	T	0.16	.	17.1001	0.86647	0.0:0.0:1.0:0.0	.	173;173	Q9UM54-2;Q9UM54-1	.;.	A	173	ENSP00000358998:G173A;ENSP00000359002:G173A;ENSP00000358994:G173A;ENSP00000358992:G173A	ENSP00000358992:G173A	G	+	2	0	MYO6	76602358	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.269000	0.95684	2.091000	0.63221	0.460000	0.39030	GGA		0.279	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
SIM1	6492	broad.mit.edu	37	6	100896034	100896034	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:100896034C>T	ENST00000369208.3	-	8	1620	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	SIM1_ENST00000262901.4_Missense_Mutation_p.A280T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	280	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGGTGCGCGCAGCGCAGG	0.622																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(838-840)Gcg>Acg		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							103.0	76.0	85.0					6																	100896034		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896034C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.838G>A	6.37:g.100896034C>T	ENSP00000358210:p.Ala280Thr					SIM1_uc021zdg.1_Missense_Mutation_p.A280T|SIM1_uc010kcu.3_Missense_Mutation_p.A280T	p.A280T	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	1305	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	280			PAS 2.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.838G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155981	0.78114	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.22134	1.97;1.97	5.29	5.29	0.74685	PAS fold-3 (1);PAS (1);	0.099558	0.64402	D	0.000002	T	0.25680	0.0625	L	0.35593	1.075	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.01356	-1.1376	10	0.34782	T	0.22	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	280	P81133	SIM1_HUMAN	T	280	ENSP00000358210:A280T;ENSP00000262901:A280T	ENSP00000262901:A280T	A	-	1	0	SIM1	101002755	1.000000	0.71417	0.989000	0.46669	0.202000	0.24057	7.487000	0.81328	2.473000	0.83533	0.655000	0.94253	GCG		0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
ASCC3	10973	broad.mit.edu	37	6	101073206	101073206	+	Silent	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:101073206A>G	ENST00000369162.2	-	30	4991	c.4647T>C	c.(4645-4647)atT>atC	p.I1549I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1549	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATGGCTTCTAATTGCTGTTG	0.368																																						uc003pqk.3																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4645-4647)atT>atC		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.							66.0	67.0	67.0					6																	101073206		2203	4299	6502	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101073206A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4647T>C	6.37:g.101073206A>G							p.I1549I	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	29	4976	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1549			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.4647T>C	CCDS5046.1																																																																																				0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
SYNE1	23345	broad.mit.edu	37	6	152554981	152554981	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:152554981G>A	ENST00000367255.5	-	112	21248	c.20647C>T	c.(20647-20649)Cgc>Tgc	p.R6883C	SYNE1_ENST00000423061.1_Missense_Mutation_p.R6812C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6883C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6812C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1407C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6495C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6883					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATCAATGCGCGACAGCTCA	0.512										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20647-20649)Cgc>Tgc		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							87.0	76.0	80.0					6																	152554981		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152554981G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20647C>T	6.37:g.152554981G>A	ENSP00000356224:p.Arg6883Cys	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R1407C|SYNE1_uc003qot.4_Missense_Mutation_p.R6812C|SYNE1_uc003qou.4_Missense_Mutation_p.R6883C	p.R6883C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	109	20870	-		Ovarian(120;0.0955)	6883					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20647C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909232	0.33721	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.73	5.93	5.06	0.68205	.	0.515331	0.19330	N	0.116909	T	0.12987	0.0315	N	0.12182	0.205	0.22911	N	0.998571	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.06405	0.0;0.0;0.002	T	0.11108	-1.0601	10	0.36615	T	0.2	.	10.2901	0.43590	0.068:0.0:0.7978:0.1341	.	6883;6883;6812	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	C	6883;6812;6883;6812;6495;1407	ENSP00000356224:R6883C;ENSP00000396024:R6812C;ENSP00000265368:R6883C;ENSP00000390975:R6812C;ENSP00000341887:R6495C;ENSP00000349276:R1407C	ENSP00000265368:R6883C	R	-	1	0	SYNE1	152596674	0.959000	0.32827	0.025000	0.17156	0.641000	0.38312	4.478000	0.60230	1.500000	0.48636	0.655000	0.94253	CGC		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
PDE10A	10846	broad.mit.edu	37	6	165808689	165808689	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:165808689G>A	ENST00000366882.1	-	16	1610	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	PDE10A_ENST00000539869.2_Missense_Mutation_p.R496W|PDE10A_ENST00000354448.4_Missense_Mutation_p.R486W			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	486					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CCACAGGACCGATGAACCATG	0.383																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.3																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1456-1458)Cgg>Tgg		RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	Dipyridamole(DB00975)						77.0	76.0	76.0					6																	165808689		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165808689G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1456C>T	6.37:g.165808689G>A	ENSP00000355847:p.Arg486Trp					PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R416W|PDE10A_uc003quo.3_Missense_Mutation_p.R496W	p.R486W	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	15	1701	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	486					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1456C>T		.	.	.	.	.	.	.	.	.	.	G	17.04	3.286242	0.59867	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76839	-1.05;-1.05	5.57	4.67	0.58626	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.289201	0.38436	N	0.001688	T	0.58424	0.2121	N	0.22421	0.69	0.41104	D	0.985697	P;D	0.53619	0.929;0.961	B;B	0.41412	0.116;0.356	T	0.69187	-0.5211	10	0.72032	D	0.01	.	16.4835	0.84171	0.0:0.1306:0.8694:0.0	.	496;486	Q9ULW9;Q9Y233	.;PDE10_HUMAN	W	486;514;496;486;485	ENSP00000355847:R486W;ENSP00000346435:R486W	ENSP00000341187:R496W	R	-	1	2	PDE10A	165728679	1.000000	0.71417	0.952000	0.39060	0.994000	0.84299	5.512000	0.67030	2.619000	0.88677	0.650000	0.86243	CGG		0.383	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
SDK1	221935	broad.mit.edu	37	7	4050739	4050739	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4050739C>A	ENST00000404826.2	+	15	2412	c.2273C>A	c.(2272-2274)aCa>aAa	p.T758K	SDK1_ENST00000389531.3_Missense_Mutation_p.T758K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	758	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T758K(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGCCGAGACAAGCAGGTGC	0.597																																						uc003smx.3																			1	Substitution - Missense(1)	p.T758K(2)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2272-2274)aCa>aAa		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							31.0	28.0	29.0					7																	4050739		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4050739C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2273C>A	7.37:g.4050739C>A	ENSP00000385899:p.Thr758Lys					SDK1_uc010kso.3_Missense_Mutation_p.T34K	p.T758K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2412	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	758			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2273C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456304	0.84317	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.54866	0.55;0.55	5.48	5.48	0.80851	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.74283	0.3696	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76865	-0.2801	10	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	758;758	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	K	758	ENSP00000385899:T758K;ENSP00000374182:T758K	ENSP00000374182:T758K	T	+	2	0	SDK1	4017265	1.000000	0.71417	0.933000	0.37362	0.749000	0.42624	7.389000	0.79806	2.575000	0.86900	0.655000	0.94253	ACA		0.597	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SDK1	221935	broad.mit.edu	37	7	4189057	4189057	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4189057G>A	ENST00000404826.2	+	30	4726	c.4587G>A	c.(4585-4587)tcG>tcA	p.S1529S	SDK1_ENST00000389531.3_Silent_p.S1529S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1529	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTACTCCTCGTCCATCAGCC	0.682																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4585-4587)tcG>tcA		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							40.0	33.0	35.0					7																	4189057		2202	4299	6501	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4189057G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4587G>A	7.37:g.4189057G>A						SDK1_uc010kso.3_Silent_p.S805S|SDK1_uc003smy.3_Silent_p.S16S	p.S1529S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4726	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1529			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4587G>A	CCDS34590.1																																																																																				0.682	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
FAM188B	84182	broad.mit.edu	37	7	30830978	30830978	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:30830978C>T	ENST00000265299.6	+	5	938	c.861C>T	c.(859-861)gcC>gcT	p.A287A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	287										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCACTGCCAGCAGCCCTC	0.637																																						uc003tbt.3																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(859-861)gcC>gcT		Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.							54.0	64.0	61.0					7																	30830978		1953	4152	6105	SO:0001819	synonymous_variant	84182							g.chr7:30830978C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.861C>T	7.37:g.30830978C>T						FAM188B_uc010kwe.3_Silent_p.A258A	p.A287A	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			4	938	+			287					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.861C>T	CCDS43565.1																																																																																				0.637	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
EGFR	1956	broad.mit.edu	37	7	55220329	55220329	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:55220329G>A	ENST00000275493.2	+	6	896	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	EGFR_ENST00000442591.1_Missense_Mutation_p.C240Y|EGFR_ENST00000455089.1_Missense_Mutation_p.C195Y|EGFR_ENST00000420316.2_Missense_Mutation_p.C240Y|EGFR_ENST00000342916.3_Missense_Mutation_p.C240Y|EGFR_ENST00000344576.2_Missense_Mutation_p.C240Y|EGFR_ENST00000454757.2_Missense_Mutation_p.C187Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	240			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCTGCAGGCTGCACAGGCCCC	0.647		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0		p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(718-720)tGc>tAc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						56.0	63.0	61.0					7																	55220329		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220329G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.719G>A	7.37:g.55220329G>A	ENSP00000275493:p.Cys240Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.C240Y|EGFR_uc003tqi.3_Missense_Mutation_p.C240Y|EGFR_uc003tqj.3_Missense_Mutation_p.C240Y|EGFR_uc022adm.1_Missense_Mutation_p.C240Y|EGFR_uc010kzg.2_Missense_Mutation_p.C195Y|EGFR_uc022adn.1_Missense_Mutation_p.C195Y|EGFR_uc011kco.2_Missense_Mutation_p.C187Y|EGFR_uc003tql.1_Non-coding_Transcript	p.C240Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	965	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		240					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.719G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434917	0.62955	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.15	5.15	0.70609	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.094530	0.64402	D	0.000001	D	0.97864	0.9298	H	0.96430	3.82	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	0.998;1.0;0.998;0.999;1.0	D	0.99308	1.0903	10	0.87932	D	0	.	17.1839	0.86861	0.0:0.0:1.0:0.0	.	195;240;240;240;240	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	195;240;110;240;240;240;240;187;34	ENSP00000415559:C195Y;ENSP00000342376:C240Y;ENSP00000345973:C240Y;ENSP00000413843:C240Y;ENSP00000275493:C240Y;ENSP00000410031:C240Y;ENSP00000395243:C187Y	ENSP00000275493:C240Y	C	+	2	0	EGFR	55187823	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	9.764000	0.98949	2.378000	0.81104	0.655000	0.94253	TGC		0.647	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PHKG1	5260	broad.mit.edu	37	7	56151084	56151084	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:56151084T>C	ENST00000297373.2	-	6	628	c.434A>G	c.(433-435)aAc>aGc	p.N145S	PHKG1_ENST00000489604.1_5'Flank|PHKG1_ENST00000452681.2_Missense_Mutation_p.N177S|PHKG1_ENST00000537360.1_Missense_Mutation_p.N91S	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGCACGATGTTGAGTTTGTG	0.527																																					Melanoma(184;580 2064 5329 24177 35303)	uc011kdb.1																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(529-531)aAc>aGc		Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.							109.0	97.0	101.0					7																	56151084		2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56151084T>C	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.434A>G	7.37:g.56151084T>C	ENSP00000297373:p.Asn145Ser					PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Missense_Mutation_p.N39S|PHKG1_uc003trz.1_Missense_Mutation_p.N145S|PHKG1_uc011kdc.1_Missense_Mutation_p.N136S|PHKG1_uc011kdd.1_Missense_Mutation_p.N91S	p.N177S	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	725	-	Breast(14;0.214)		145			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.530A>G	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844766	0.32606	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373;ENST00000446428;ENST00000432123	T;T;T;T;T	0.41065	3.23;1.01;1.01;1.8;1.8	5.47	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.154165	0.44902	D	0.000406	T	0.32763	0.0840	L	0.33293	1	0.46542	D	0.99909	B;B;B;B	0.30973	0.302;0.11;0.243;0.134	B;B;B;B	0.32022	0.102;0.139;0.087;0.059	T	0.24225	-1.0166	10	0.56958	D	0.05	-37.8311	11.3454	0.49556	0.0:0.0753:0.0:0.9247	.	91;136;177;145	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	S	177;91;145;67;67	ENSP00000445440:N177S;ENSP00000441528:N91S;ENSP00000297373:N145S;ENSP00000389721:N67S;ENSP00000397193:N67S	ENSP00000297373:N145S	N	-	2	0	PHKG1	56118578	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	5.074000	0.64401	2.220000	0.72140	0.528000	0.53228	AAC		0.527	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213	
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:71571179G>A	ENST00000329008.5	-	3	517	c.219C>T	c.(217-219)agC>agT	p.S73S	CALN1_ENST00000395275.2_Silent_p.S115S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000405452.2_Silent_p.S73S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13808	0.0		0.0	False		,,,				2504	0.0					uc003twb.4																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(343-345)agC>agT		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	77.0	59.0	65.0		219,345	-6.3	0.1	7	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CALN1	NM_001017440.2,NM_031468.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	73/220,115/262	71571179	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571179G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.219C>T	7.37:g.71571179G>A						CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	p.S115S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			3	736	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	73					J3KQA7	Silent	SNP	ENST00000329008.5	37	c.345C>T	CCDS5541.1																																																																																				0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
KCND2	3751	broad.mit.edu	37	7	119915031	119915031	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:119915031C>T	ENST00000331113.4	+	1	1310	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	115					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.Y115Y(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCTCTGCTTACGATGAAGAAC	0.542																																						uc003vjj.1																			1	Substitution - coding silent(1)	p.Y115Y(2)	pancreas(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(343-345)taC>taT		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.							147.0	147.0	147.0					7																	119915031		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915031C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.345C>T	7.37:g.119915031C>T							p.Y115Y	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			0	1310	+	all_neural(327;0.117)		115					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.345C>T	CCDS5776.1																																																																																				0.542	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
CCDC136	64753	broad.mit.edu	37	7	128445464	128445464	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:128445464G>A	ENST00000297788.4	+	6	1201	c.834G>A	c.(832-834)acG>acA	p.T278T	CCDC136_ENST00000464832.1_Silent_p.T328T|CCDC136_ENST00000378685.4_Silent_p.T316T|CCDC136_ENST00000487361.1_Silent_p.T278T	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	278	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.T278T(2)|p.T394T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGTATGACGTCAGCAGAGT	0.502																																						uc003vnv.2																			3	Substitution - coding silent(3)	p.T278T(3)|p.T394T(1)	endometrium(3)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(832-834)acG>acA		Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.							74.0	76.0	76.0					7																	128445464		2019	4188	6207	SO:0001819	synonymous_variant	64753					integral to membrane	protein binding	g.chr7:128445464G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.834G>A	7.37:g.128445464G>A						CCDC136_uc003vnu.2_Silent_p.T316T|CCDC136_uc003vnx.2_Silent_p.T94T|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	p.T278T	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			5	1250	+			278			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	c.834G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.328883	0.01298	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.58	-4.98	0.03019	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33777	-0.9855	4	.	.	.	2.2168	8.505	0.33181	0.5409:0.1061:0.353:0.0	.	.	.	.	H	155	.	.	R	+	2	0	CCDC136	128232700	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.060000	0.03475	-1.149000	0.02843	-0.743000	0.03520	CGT		0.502	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
TRPV6	55503	broad.mit.edu	37	7	142570125	142570125	+	Splice_Site	SNP	C	C	T	rs200085165	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:142570125C>T	ENST00000359396.3	-	14	2140	c.1895G>A	c.(1894-1896)cGg>cAg	p.R632Q		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	632					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TATCACTCACCGCAGGAACCA	0.662													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17392	0.0		0.0	False		,,,				2504	0.0					uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.e14+1		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							60.0	55.0	57.0					7																	142570125		2203	4300	6503	SO:0001630	splice_region_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142570125C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1895+1G>A	7.37:g.142570125C>T						TRPV6_uc003wbw.1_Splice_Site_p.R418_splice|TRPV6_uc010lou.1_Splice_Site_p.R503_splice	p.R632_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			14	2124	-	Melanoma(164;0.059)		632					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1895_splice	CCDS5874.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	36	5.775853	0.96922	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.79940	-1.32	5.2	5.2	0.72013	.	0.054858	0.64402	D	0.000001	D	0.90290	0.6963	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90568	0.4520	9	.	.	.	-32.6818	17.9025	0.88909	0.0:1.0:0.0:0.0	.	632	Q9H1D0	TRPV6_HUMAN	Q	632;464	ENSP00000352358:R632Q	.	R	-	2	0	TRPV6	142280247	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.423000	0.80229	2.707000	0.92482	0.655000	0.94253	CGG		0.662	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	Missense_Mutation
MSR1	4481	broad.mit.edu	37	8	16012638	16012638	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:16012638G>A	ENST00000262101.5	-	6	954	c.833C>T	c.(832-834)cCg>cTg	p.P278L	MSR1_ENST00000355282.2_Missense_Mutation_p.P278L|MSR1_ENST00000536385.1_Missense_Mutation_p.P52L|MSR1_ENST00000381998.4_Missense_Mutation_p.P278L|MSR1_ENST00000445506.2_Missense_Mutation_p.P296L|MSR1_ENST00000350896.3_Missense_Mutation_p.P278L			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	278	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTTTCACCCGGGGGTCCAGG	0.398																																						uc010lsu.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(886-888)cCg>cTg		Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.																																				SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16012638G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.833C>T	8.37:g.16012638G>A	ENSP00000262101:p.Pro278Leu					MSR1_uc003wwz.3_Missense_Mutation_p.P278L|MSR1_uc003wxa.3_Missense_Mutation_p.P278L|MSR1_uc003wxb.3_Missense_Mutation_p.P278L|MSR1_uc011kxz.2_Missense_Mutation_p.P52L	p.P296L	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	5	951	-			278			Collagen-like.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.887C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534952	0.45073	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.97731	-4.23;-4.51;-4.51;-4.23;-4.09;-4.51;-4.51	4.87	0.391	0.16282	.	0.559846	0.15923	N	0.238001	D	0.95242	0.8457	L	0.50993	1.605	0.31445	N	0.671451	P;D;P;D;D	0.56287	0.948;0.958;0.948;0.975;0.958	B;B;B;P;B	0.45474	0.24;0.353;0.24;0.482;0.353	D	0.92418	0.5943	10	0.44086	T	0.13	.	7.4351	0.27150	0.0:0.2933:0.3222:0.3845	.	52;296;278;278;278	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	L	278;278;296;278;68;278;52	ENSP00000262100:P278L;ENSP00000262101:P278L;ENSP00000405453:P296L;ENSP00000347430:P278L;ENSP00000430536:P68L;ENSP00000371428:P278L;ENSP00000444414:P52L	ENSP00000262101:P278L	P	-	2	0	MSR1	16057009	0.989000	0.36119	0.998000	0.56505	0.842000	0.47809	0.157000	0.16402	0.241000	0.21283	0.650000	0.86243	CCG		0.398	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		
PRDM14	63978	broad.mit.edu	37	8	70964463	70964463	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:70964463C>A	ENST00000276594.2	-	8	1766	c.1565G>T	c.(1564-1566)tGt>tTt	p.C522F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	522					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGATTTACCACAGTACTTGCA	0.517																																					NSCLC(129;99 1813 5906 40656 46114)	uc003xym.3																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1564-1566)tGt>tTt		Homo sapiens PR domain containing 14 (PRDM14), mRNA.							162.0	151.0	155.0					8																	70964463		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70964463C>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1565G>T	8.37:g.70964463C>A	ENSP00000276594:p.Cys522Phe						p.C522F	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		7	1767	-	Breast(64;0.193)		522					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1565G>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560054	0.86335	.	.	ENSG00000147596	ENST00000276594	D	0.85861	-2.04	6.08	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.99573	4.635	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.97199	0.9863	10	0.87932	D	0	-22.1327	15.814	0.78586	0.0:0.934:0.0:0.066	.	522	Q9GZV8	PRD14_HUMAN	F	522	ENSP00000276594:C522F	ENSP00000276594:C522F	C	-	2	0	PRDM14	71127017	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.603000	0.67619	2.890000	0.99128	0.655000	0.94253	TGT		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
MTDH	92140	broad.mit.edu	37	8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	rs143317071	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:98731338G>A	ENST00000336273.3	+	10	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_ENST00000519934.1_Missense_Mutation_p.R425H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	481					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		17778	0.0		0.001	False		,,,				2504	0.001					uc003yhz.3																			0		p.T480T(1)|p.R481S(1)|p.T480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1441-1443)cGt>cAt		Homo sapiens metadherin (MTDH), mRNA.		G	HIS/ARG	0,4406		0,0,2203	80.0	87.0	85.0		1442	4.0	1.0	8	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MTDH	NM_178812.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	481/583	98731338	2,13004	2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731338G>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1442G>A	8.37:g.98731338G>A	ENSP00000338235:p.Arg481His					MTDH_uc010mbf.3_Non-coding_Transcript	p.R481H	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		9	1770	+	Breast(36;2.56e-06)		481					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1442G>A	CCDS6274.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.05	2.719126	0.48622	0.0	2.33E-4	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.46819	0.86;0.86	5.97	3.96	0.45880	.	0.410363	0.26096	N	0.026376	T	0.23249	0.0562	N	0.08118	0	0.32155	N	0.583702	B	0.18013	0.025	B	0.12156	0.007	T	0.10870	-1.0611	10	0.42905	T	0.14	-0.6312	4.3769	0.11275	0.3615:0.0:0.6385:0.0	.	481	Q86UE4	LYRIC_HUMAN	H	481;425	ENSP00000338235:R481H;ENSP00000428168:R425H	ENSP00000338235:R481H	R	+	2	0	MTDH	98800514	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.041000	0.41213	1.529000	0.49120	0.655000	0.94253	CGT		0.333	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
WISP1	8840	broad.mit.edu	37	8	134239690	134239690	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:134239690G>A	ENST00000250160.6	+	5	947	c.841G>A	c.(841-843)Gca>Aca	p.A281T	WISP1_ENST00000517423.1_Missense_Mutation_p.G129D|WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000377863.2_Missense_Mutation_p.A109T|WISP1_ENST00000519433.1_Missense_Mutation_p.A36T|WISP1_ENST00000220856.6_Missense_Mutation_p.A194T	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	281	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCAGCCAGAGGCATCCATGAA	0.527																																						uc003yub.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(841-843)Gca>Aca		Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.							106.0	95.0	99.0					8																	134239690		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239690G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.841G>A	8.37:g.134239690G>A	ENSP00000250160:p.Ala281Thr					WISP1_uc003yuc.3_Missense_Mutation_p.A194T|WISP1_uc010meb.3_Missense_Mutation_p.A109T|WISP1_uc010mec.3_Missense_Mutation_p.G129D|WISP1_uc010med.3_Missense_Mutation_p.A36T|WISP1_uc003yud.3_Non-coding_Transcript	p.A281T	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	947	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		281			CTCK.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.841G>A	CCDS6371.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.64|13.64	2.298821|2.298821	0.40694|0.40694	.|.	.|.	ENSG00000104415|ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856|ENST00000517423	D;D;D;D|T	0.91011|0.73575	-2.77;-2.77;-2.77;-2.77|-0.76	5.63|5.63	4.71|4.71	0.59529|0.59529	Cystine knot (1);Cystine knot, C-terminal (2);|.	0.844676|.	0.10728|.	N|.	0.640929|.	T|T	0.53753|0.53753	0.1816|0.1816	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	P;P;D;P|B	0.53151|0.27559	0.622;0.737;0.958;0.728|0.181	B;B;P;B|B	0.50860|0.24006	0.217;0.338;0.652;0.257|0.05	T|T	0.26360|0.26360	-1.0105|-1.0105	10|9	0.66056|0.18276	D|T	0.02|0.48	-14.7141|-14.7141	16.3234|16.3234	0.82961|0.82961	0.0:0.1317:0.8683:0.0|0.0:0.1317:0.8683:0.0	.|.	36;109;194;281|129	O95388-3;Q5JBS7;O95388-2;O95388|E7EMM5	.;.;.;WISP1_HUMAN|.	T|D	281;36;109;194|129	ENSP00000250160:A281T;ENSP00000429185:A36T;ENSP00000367094:A109T;ENSP00000220856:A194T|ENSP00000427744:G129D	ENSP00000220856:A194T|ENSP00000427744:G129D	A|G	+|+	1|2	0|0	WISP1|WISP1	134308872|134308872	0.107000|0.107000	0.21998|0.21998	0.056000|0.056000	0.19401|0.19401	0.534000|0.534000	0.34807|0.34807	2.355000|2.355000	0.44107|0.44107	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.527	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882	
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						uc003zhp.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)aAg>aGg		Homo sapiens KIAA0020 (KIAA0020), mRNA.							259.0	237.0	244.0					9																	2837296		1837	4098	5935	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296T>C	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188A>G	9.37:g.2837296T>C	ENSP00000380982:p.Lys63Arg					KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R	p.K63R	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	2	284	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.188A>G	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927712	0.18056	.	.	ENSG00000080608	ENST00000397885	T	0.12672	2.66	4.55	3.32	0.38043	.	0.404891	0.24027	N	0.042233	T	0.07369	0.0186	N	0.19112	0.55	0.22629	N	0.998913	B	0.10296	0.003	B	0.08055	0.003	T	0.24799	-1.0150	10	0.26408	T	0.33	-19.7444	5.606	0.17379	0.0:0.0997:0.2858:0.6145	.	63	Q15397	K0020_HUMAN	R	63	ENSP00000380982:K63R	ENSP00000380982:K63R	K	-	2	0	KIAA0020	2827296	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	2.041000	0.60428	0.528000	0.53228	AAG		0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	
SPATA31C1	441452	broad.mit.edu	37	9	90536630	90536630	+	RNA	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:90536630G>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTGAGTGTGCGTCGATCCTGG	0.512																																						uc010mqi.3																			0											c.(1807-1809)cGt>cAt		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							32.0	29.0	30.0					9																	90536630		692	1591	2283			441452							g.chr9:90536630G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536630G>A						FAM75C1_uc004apq.4_Missense_Mutation_p.R586H	p.R603H	NM_001145124	NP_001138596					3	1837	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1808G>A																																																																																					0.512	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
BICD2	23299	broad.mit.edu	37	9	95481762	95481762	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:95481762G>A	ENST00000375512.3	-	5	1232	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	BICD2_ENST00000356884.6_Missense_Mutation_p.R389C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	389					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGTGAGGCGGGTCACCTTC	0.647																																						uc004asp.1																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1165-1167)Cgc>Tgc		Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.							51.0	49.0	50.0					9																	95481762		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481762G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1165C>T	9.37:g.95481762G>A	ENSP00000364662:p.Arg389Cys					BICD2_uc004aso.1_Missense_Mutation_p.R389C	p.R389C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN			4	1222	-			389					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1165C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420301	0.83559	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.48201	0.82;0.82	4.77	4.77	0.60923	.	0.249082	0.40908	D	0.000995	T	0.68485	0.3006	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72513	-0.4270	10	0.66056	D	0.02	-16.3574	15.6624	0.77197	0.0:0.0:1.0:0.0	.	389;389	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	389	ENSP00000349351:R389C;ENSP00000364662:R389C	ENSP00000349351:R389C	R	-	1	0	BICD2	94521583	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.193000	0.58385	2.372000	0.80975	0.561000	0.74099	CGC		0.647	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	
SH2D3C	10044	broad.mit.edu	37	9	130507103	130507103	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:130507103A>G	ENST00000314830.8	-	7	1653	c.1540T>C	c.(1540-1542)Tcc>Ccc	p.S514P	SH2D3C_ENST00000373274.3_Missense_Mutation_p.S354P|SH2D3C_ENST00000373276.3_Missense_Mutation_p.S446P|SH2D3C_ENST00000420366.1_Missense_Mutation_p.S356P|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.S160P|SH2D3C_ENST00000373277.4_Missense_Mutation_p.S357P	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	514					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTGGCTGGAGGTCTCAGTC	0.622																																						uc004bsc.3																			0		p.T513N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1540-1542)Tcc>Ccc		Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.							117.0	126.0	123.0					9																	130507103		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507103A>G	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1540T>C	9.37:g.130507103A>G	ENSP00000317817:p.Ser514Pro					SH2D3C_uc010mxo.3_Missense_Mutation_p.S354P|SH2D3C_uc004bry.3_Missense_Mutation_p.S356P|SH2D3C_uc004brz.4_Missense_Mutation_p.S160P|SH2D3C_uc011mak.2_Missense_Mutation_p.S160P|SH2D3C_uc004bsb.3_Missense_Mutation_p.S446P|SH2D3C_uc004bsa.3_Missense_Mutation_p.S357P	p.S514P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			6	1682	-			514					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1540T>C	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	A	7.468	0.645998	0.14451	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.24350	2.65;2.64;2.4;2.65;1.86;2.66	5.5	1.79	0.24919	.	0.203089	0.52532	D	0.000073	T	0.05914	0.0154	N	0.00879	-1.12	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.29458	-1.0011	10	0.22706	T	0.39	-2.8529	2.7764	0.05349	0.2975:0.0:0.3035:0.3989	.	354;514;446;357;356	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	P	357;356;446;354;160;514	ENSP00000362374:S357P;ENSP00000388536:S356P;ENSP00000362373:S446P;ENSP00000362371:S354P;ENSP00000394632:S160P;ENSP00000317817:S514P	ENSP00000317817:S514P	S	-	1	0	SH2D3C	129546924	1.000000	0.71417	0.992000	0.48379	0.618000	0.37518	1.077000	0.30741	0.371000	0.24564	0.379000	0.24179	TCC		0.622	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
NTNG2	84628	broad.mit.edu	37	9	135042315	135042315	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:135042315A>C	ENST00000393229.3	+	2	873	c.97A>C	c.(97-99)Acc>Ccc	p.T33P	NTNG2_ENST00000372179.3_Missense_Mutation_p.T33P|NTNG2_ENST00000393228.4_Missense_Mutation_p.T33P|NTNG2_ENST00000360670.3_Missense_Mutation_p.T33P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	33					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGAGGGCCCCACCTGGGAGTT	0.607																																						uc004cbh.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(97-99)Acc>Ccc		Homo sapiens netrin G2 (NTNG2), mRNA.							94.0	98.0	96.0					9																	135042315		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135042315A>C	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.97A>C	9.37:g.135042315A>C	ENSP00000376921:p.Thr33Pro						p.T33P	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	1	873	+			33					Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.97A>C	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235256	0.39498	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.66995	1.36;-0.24;-0.24;1.36	5.23	4.04	0.47022	Laminin, N-terminal (1);	0.267882	0.30850	N	0.008760	T	0.45935	0.1367	N	0.19112	0.55	0.37182	D	0.903544	B	0.30889	0.299	B	0.26094	0.066	T	0.52003	-0.8633	10	0.37606	T	0.19	.	7.6843	0.28532	0.6104:0.0:0.0:0.3896	.	33	Q96CW9	NTNG2_HUMAN	P	33	ENSP00000376921:T33P;ENSP00000376920:T33P;ENSP00000353888:T33P;ENSP00000361252:T33P	ENSP00000353888:T33P	T	+	1	0	NTNG2	134032136	0.710000	0.27896	1.000000	0.80357	0.997000	0.91878	1.535000	0.36061	1.964000	0.57103	0.459000	0.35465	ACC		0.607	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536	
COL5A1	1289	broad.mit.edu	37	9	137716532	137716532	+	Silent	SNP	C	C	T	rs149981025		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:137716532C>T	ENST00000371817.3	+	62	5199	c.4785C>T	c.(4783-4785)gaC>gaT	p.D1595D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1595	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGCTGGACGACGGGAATGGCG	0.627																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4783-4785)gaC>gaT		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.		C		1,4405	6.2+/-15.9	0,1,2202	79.0	67.0	71.0		4785	-8.7	0.1	9	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1595/1839	137716532	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137716532C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4785C>T	9.37:g.137716532C>T						BC058547_uc004cff.3_Intron	p.D1595D	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	61	5167	+		Myeloproliferative disorder(178;0.0341)	1595			Nonhelical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4785C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	3.405	-0.121463	0.06838	2.27E-4	0.0	ENSG00000130635	ENST00000371820	.	.	.	4.34	-8.68	0.00859	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40646	-0.9552	4	.	.	.	.	1.9969	0.03459	0.2026:0.0899:0.2504:0.457	.	.	.	.	W	15	.	.	R	+	1	2	COL5A1	136856353	0.000000	0.05858	0.053000	0.19242	0.299000	0.27559	-3.436000	0.00471	-1.560000	0.01686	-0.270000	0.10280	CGG		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
KDM6A	7403	broad.mit.edu	37	X	44929255	44929255	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:44929255G>A	ENST00000377967.4	+	17	2396	c.2355G>A	c.(2353-2355)atG>atA	p.M785I	KDM6A_ENST00000543216.1_Missense_Mutation_p.M706I|KDM6A_ENST00000382899.4_Missense_Mutation_p.M792I|KDM6A_ENST00000536777.1_Missense_Mutation_p.M740I	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	785	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTTGTTGATGGGAAAAGCCA	0.448			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc011mkz.2				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2509-2511)atG>atA		Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.							156.0	111.0	126.0					X																	44929255		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929255G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2355G>A	X.37:g.44929255G>A	ENSP00000367203:p.Met785Ile					KDM6A_uc022bvi.1_Missense_Mutation_p.M455I|KDM6A_uc010nhk.2_Missense_Mutation_p.M751I|KDM6A_uc004dge.4_Missense_Mutation_p.M785I|KDM6A_uc011mla.2_Missense_Mutation_p.M740I|KDM6A_uc011mlb.2_Missense_Mutation_p.M792I|KDM6A_uc011mlc.2_Missense_Mutation_p.M489I|KDM6A_uc022bvj.1_Missense_Mutation_p.M706I|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.M424I	p.M837I	NM_021140	NP_066963	O15550	KDM6A_HUMAN			17	2886	+			785					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2511G>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.134|1.134	-0.651637|-0.651637	0.03506|0.03506	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.75154	.|-0.91;-0.91;-0.91;-0.91	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.157212	.|0.64402	.|D	.|0.000002	T|T	0.57784|0.57784	0.2077|0.2077	N|N	0.01109|0.01109	-1.01|-1.01	0.49213|0.49213	D|D	0.999765|0.999765	.|B;P;B;B;B;B	.|0.44281	.|0.0;0.831;0.0;0.0;0.025;0.0	.|B;P;B;B;B;B	.|0.54664	.|0.0;0.758;0.001;0.001;0.014;0.001	T|T	0.62548|0.62548	-0.6831|-0.6831	5|10	.|0.02654	.|T	.|1	0.3259|0.3259	17.9308|17.9308	0.88996|0.88996	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|424;792;740;837;751;785	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	R|I	383;428|482;785;740;792;706	.|ENSP00000367203:M785I;ENSP00000437405:M740I;ENSP00000372355:M792I;ENSP00000443078:M706I	.|ENSP00000334340:M482I	G|M	+|+	1|3	0|0	KDM6A|KDM6A	44814199|44814199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.276000|4.276000	0.58933|0.58933	2.255000|2.255000	0.74692|0.74692	0.600000|0.600000	0.82982|0.82982	GGG|ATG		0.448	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	
IL1RAPL2	26280	broad.mit.edu	37	X	105011554	105011554	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:105011554C>T	ENST00000372582.1	+	11	2717	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P654L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	654					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACAGCTACCCCTTAATAAC	0.448																																						uc004elz.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1960-1962)cCc>cTc		Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.							129.0	129.0	129.0					X																	105011554		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011554C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1961C>T	X.37:g.105011554C>T	ENSP00000361663:p.Pro654Leu						p.P654L	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			10	2717	+			654					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1961C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997225	0.35226	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04917	3.81;3.81;3.53	5.83	5.83	0.93111	.	0.082390	0.53938	D	0.000059	T	0.10981	0.0268	L	0.61218	1.895	0.80722	D	1	B	0.34103	0.437	B	0.32864	0.154	T	0.02015	-1.1229	10	0.49607	T	0.09	.	17.8727	0.88815	0.0:1.0:0.0:0.0	.	654	Q9NP60	IRPL2_HUMAN	L	654;654;259	ENSP00000361663:P654L;ENSP00000344976:P654L;ENSP00000445576:P259L	ENSP00000344976:P654L	P	+	2	0	IL1RAPL2	104898210	1.000000	0.71417	0.060000	0.19600	0.440000	0.31957	5.769000	0.68865	2.441000	0.82636	0.600000	0.82982	CCC		0.448	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
MAGEC2	51438	broad.mit.edu	37	X	141290669	141290669	+	Missense_Mutation	SNP	C	C	T	rs201326446		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:141290669C>T	ENST00000247452.3	-	3	1452	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	369	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAAGGAGACGTTGCTGGAC	0.502										HNSCC(46;0.14)			.|||	1	0.000264901	0.0	0.0014	3775	,	,		13807	0.0		0.0	False		,,,				2504	0.0					uc022cfj.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(1105-1107)Gtc>Atc		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							128.0	105.0	113.0					X																	141290669		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290669C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1105G>A	X.37:g.141290669C>T	ENSP00000354660:p.Val369Ile	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.V369I	p.V369I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	1105	-	Acute lymphoblastic leukemia(192;6.56e-05)		369					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.1105G>A	CCDS14678.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	-	0.003	-2.577342	0.00131	.	.	ENSG00000046774	ENST00000247452	T	0.02103	4.45	0.929	-1.86	0.07760	.	.	.	.	.	T	0.01387	0.0045	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49123	-0.8972	9	0.13470	T	0.59	.	2.9891	0.05978	0.3547:0.2503:0.3949:0.0	.	369	Q9UBF1	MAGC2_HUMAN	I	369	ENSP00000354660:V369I	ENSP00000354660:V369I	V	-	1	0	MAGEC2	141118335	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.431000	0.06965	-1.543000	0.01723	-1.300000	0.01332	GTC		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
