#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
DNAJC16	23341	broad.mit.edu	37	1	15888817	15888817	+	Silent	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:15888817A>C	ENST00000375847.3	+	9	1499	c.1335A>C	c.(1333-1335)tcA>tcC	p.S445S	DNAJC16_ENST00000375849.1_Silent_p.S445S|DNAJC16_ENST00000375838.1_Silent_p.S445S|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	445					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGGGAAATCAGCGGTAAGCC	0.473																																						uc001aws.2																			0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(1333-1335)TCA>TCC		DnaJ (Hsp40) homolog, subfamily C, member 16							98.0	88.0	91.0					1																	15888817		2203	4300	6503	SO:0001819	synonymous_variant	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15888817A>C	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1335A>C	1.37:g.15888817A>C						DNAJC16_uc001awr.1_Silent_p.S445S|DNAJC16_uc001awt.2_Silent_p.S133S|DNAJC16_uc001awu.2_RNA	p.S445S	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1455	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	445			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Silent	SNP	ENST00000375847.3	37	c.1335A>C	CCDS30606.1																																																																																				0.473	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
DOCK7	85440	broad.mit.edu	37	1	62993826	62993826	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:62993826G>C	ENST00000340370.5	-	30	3856	c.3839C>G	c.(3838-3840)tCa>tGa	p.S1280*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.S1311*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1311					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTACCGTTGACGTGAGGAG	0.423																																						uc001daq.2																			0				ovary(2)	2						c.(3931-3933)TCA>TGA		dedicator of cytokinesis 7							110.0	95.0	100.0					1																	62993826		2203	4300	6503	SO:0001587	stop_gained	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62993826G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3839C>G	1.37:g.62993826G>C	ENSP00000340742:p.Ser1280*					DOCK7_uc001dan.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dao.2_Nonsense_Mutation_p.S1172*|DOCK7_uc001dap.2_Nonsense_Mutation_p.S1280*|DOCK7_uc001dam.2_Nonsense_Mutation_p.S491*|DOCK7_uc010oov.1_Intron	p.S1311*	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			31	3966	-			1311					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	c.3932C>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	43	10.415395	0.99401	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	.	.	.	5.46	5.46	0.80206	.	0.233301	0.38272	N	0.001749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.318	0.94224	0.0:0.0:1.0:0.0	.	.	.	.	X	1311;1311;1280	.	ENSP00000251157:S1311X	S	-	2	0	DOCK7	62766414	1.000000	0.71417	0.981000	0.43875	0.969000	0.65631	8.810000	0.91950	2.557000	0.86248	0.555000	0.69702	TCA		0.423	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
OR10J1	26476	broad.mit.edu	37	1	159410403	159410403	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:159410403G>A	ENST00000423932.3	+	1	892	c.855G>A	c.(853-855)tcG>tcA	p.S285S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	285					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGCTGATCTCGGTGACCTACA	0.517																																						uc010piv.1																			0				ovary(1)	1						c.(853-855)TCG>TCA		olfactory receptor, family 10, subfamily J,							164.0	132.0	143.0					1																	159410403		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410403G>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.855G>A	1.37:g.159410403G>A						uc001fts.3_Intron	p.S285S	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	855	+	all_hematologic(112;0.0429)		285			Helical; Name=7; (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.855G>A	CCDS1185.1																																																																																				0.517	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351	
ATP1A4	480	broad.mit.edu	37	1	160144388	160144388	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:160144388C>A	ENST00000368081.4	+	15	2633	c.2162C>A	c.(2161-2163)aCa>aAa	p.T721K	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_5'Flank	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	721					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.T721I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGCCGTGACAGGTGACGGG	0.542																																						uc001fve.3																			1	Substitution - Missense(1)		breast(1)	ovary(2)|skin(2)	4						c.(2161-2163)ACA>AAA		Na+/K+ -ATPase alpha 4 subunit isoform 1							104.0	82.0	89.0					1																	160144388		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160144388C>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2162C>A	1.37:g.160144388C>A	ENSP00000357060:p.Thr721Lys					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.T224K|ATP1A4_uc001fvh.2_5'Flank	p.T721K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	2641	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		721			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2162C>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013319	0.75161	.	.	ENSG00000132681	ENST00000368081	D	0.96396	-4.0	4.2	4.2	0.49525	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98972	0.9650	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98805	1.0741	10	0.87932	D	0	.	14.4423	0.67325	0.0:1.0:0.0:0.0	.	721	Q13733	AT1A4_HUMAN	K	721	ENSP00000357060:T721K	ENSP00000357060:T721K	T	+	2	0	ATP1A4	158411012	1.000000	0.71417	0.917000	0.36280	0.584000	0.36387	7.623000	0.83113	2.336000	0.79503	0.609000	0.83330	ACA		0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
SLC9C2	284525	broad.mit.edu	37	1	173505000	173505000	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:173505000A>C	ENST00000367714.3	-	15	2166	c.1744T>G	c.(1744-1746)Tgt>Ggt	p.C582G	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	582					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTTTCTATACAATATTCCAAG	0.264																																						uc001giz.2																			0				ovary(2)	2						c.(1744-1746)TGT>GGT		solute carrier family 9, member 11							32.0	38.0	36.0					1																	173505000		2146	4210	6356	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173505000A>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1744T>G	1.37:g.173505000A>C	ENSP00000356687:p.Cys582Gly					SLC9A11_uc009wwe.2_Missense_Mutation_p.C140G|SLC9A11_uc010pmq.1_Intron	p.C582G	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			15	2167	-			582					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1744T>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	2.199	-0.383555	0.04966	.	.	ENSG00000162753	ENST00000367714	T	0.04049	3.72	5.81	1.42	0.22433	.	1.548580	0.03640	N	0.239269	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46275	-0.9203	10	0.26408	T	0.33	-1.1371	3.2893	0.06943	0.0845:0.1459:0.4383:0.3313	.	582	Q5TAH2	S9A11_HUMAN	G	582	ENSP00000356687:C582G	ENSP00000356687:C582G	C	-	1	0	SLC9A11	171771623	0.775000	0.28604	0.033000	0.17914	0.001000	0.01503	0.791000	0.26915	0.317000	0.23160	-0.186000	0.12905	TGT		0.264	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
HMCN1	83872	broad.mit.edu	37	1	186017944	186017945	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:186017944_186017945insA	ENST00000271588.4	+	42	6779_6780	c.6550_6551insA	c.(6550-6552)gaafs	p.E2184fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.E2184fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2184	Ig-like C2-type 19.			E -> EK (in Ref. 1). {ECO:0000305}.	response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAAAAACTGAAAAAAACTAC	0.361																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(6550-6552)GAAfs		hemicentin 1 precursor																																				SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186017944_186017945insA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6557dupA	1.37:g.186017951_186017951dupA	ENSP00000271588:p.Glu2184fs						p.E2184fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			42	6779_6780	+			2184	E -> EK (in Ref. 1).		Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	ENST00000271588.4	37	c.6550_6551insA	CCDS30956.1																																																																																				0.361	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
AIDA	64853	broad.mit.edu	37	1	222860999	222860999	+	Splice_Site	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:222860999G>C	ENST00000340020.6	-	5	497	c.291C>G	c.(289-291)atC>atG	p.I97M	AIDA_ENST00000541237.1_Splice_Site_p.I73M|AIDA_ENST00000355727.2_Splice_Site_p.I97M|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	97					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TATTCTTTAGGACTAGAATAA	0.224																																						uc001hnn.2																			0					0						c.(289-291)ATC>ATG		axin interactor, dorsalization associated							36.0	41.0	40.0					1																	222860999		2087	4131	6218	SO:0001630	splice_region_variant	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222860999G>C	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.290-1C>G	1.37:g.222860999G>C						AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.I73M	p.I97M	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN			5	496	-			97					A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.291C>G	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889506	0.33348	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.87	2.96	0.34315	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.41236	1.265	0.44289	D	0.997153	D;P	0.54397	0.966;0.944	D;P	0.69654	0.965;0.89	T	0.52094	-0.8621	9	0.41790	T	0.15	.	5.3435	0.15996	0.2717:0.0:0.5965:0.1318	.	73;97	F5H715;Q96BJ3	.;AIDA_HUMAN	M	97;97;73	.	ENSP00000339161:I97M	I	-	3	3	AIDA	220927622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.365000	0.34182	0.466000	0.27193	-0.140000	0.14226	ATC		0.224	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1	NM_022831	Missense_Mutation
KIAA1217	56243	broad.mit.edu	37	10	24762771	24762771	+	Silent	SNP	C	C	T	rs143282203	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:24762771C>T	ENST00000376454.3	+	6	1491	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	KIAA1217_ENST00000307544.6_Silent_p.H205H|KIAA1217_ENST00000376462.1_Silent_p.H407H|KIAA1217_ENST00000396445.1_Silent_p.H205H|KIAA1217_ENST00000376452.3_Silent_p.H487H|KIAA1217_ENST00000376451.2_Silent_p.H205H|KIAA1217_ENST00000458595.1_Silent_p.H487H|KIAA1217_ENST00000396446.1_Silent_p.H205H|KIAA1217_ENST00000430453.2_Silent_p.H408H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	487					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGACATGCACGCTCACTATA	0.557													C|||	4	0.000798722	0.0	0.0	5008	,	,		17546	0.0		0.001	False		,,,				2504	0.0031					uc001iru.3																			0				ovary(5)|skin(2)	7						c.(1459-1461)CAC>CAT		sickle tail isoform 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	104.0	90.0	95.0		1221,1461,1461	-1.7	0.0	10	dbSNP_134	95	19,8581	13.3+/-46.6	0,19,4281	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	,,	0,20,6483	TT,TC,CC		0.2209,0.0227,0.1538	,,	407/1265,487/1310,487/1944	24762771	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762771C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1461C>T	10.37:g.24762771C>T						KIAA1217_uc001irs.2_Silent_p.H407H|KIAA1217_uc001irt.3_Silent_p.H487H|KIAA1217_uc010qcy.1_Silent_p.H487H|KIAA1217_uc010qcz.1_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.H205H|KIAA1217_uc001irz.2_Silent_p.H205H|KIAA1217_uc001irx.2_Silent_p.H205H|KIAA1217_uc001iry.2_Silent_p.H205H	p.H487H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			6	1864	+			487					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1461C>T	CCDS31165.1																																																																																				0.557	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
KIAA1462	57608	broad.mit.edu	37	10	30315407	30315407	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:30315407G>C	ENST00000375377.1	-	3	3771	c.3670C>G	c.(3670-3672)Cca>Gca	p.P1224A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1224					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCCACACTTGGGGTTCTTTCT	0.488																																						uc001iux.2																			0				ovary(4)	4						c.(3670-3672)CCA>GCA		hypothetical protein LOC57608							112.0	107.0	108.0					10																	30315407		1849	4100	5949	SO:0001583	missense	57608							g.chr10:30315407G>C	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3670C>G	10.37:g.30315407G>C	ENSP00000364526:p.Pro1224Ala					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.P1086A|KIAA1462_uc009xle.1_Missense_Mutation_p.P1224A	p.P1224A	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3729	-			1224					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3670C>G	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308686	0.40895	.	.	ENSG00000165757	ENST00000375377	T	0.13089	2.62	5.17	2.0	0.26442	.	0.367276	0.27270	N	0.020132	T	0.18173	0.0436	L	0.57536	1.79	0.23325	N	0.997905	D	0.56035	0.974	P	0.54270	0.747	T	0.06935	-1.0799	10	0.21540	T	0.41	-9.0689	4.963	0.14076	0.101:0.0:0.5029:0.396	.	1224	Q9P266	K1462_HUMAN	A	1224	ENSP00000364526:P1224A	ENSP00000364526:P1224A	P	-	1	0	KIAA1462	30355413	0.104000	0.21937	0.922000	0.36590	0.898000	0.52572	0.385000	0.20685	1.244000	0.43870	0.655000	0.94253	CCA		0.488	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
DOCK1	1793	broad.mit.edu	37	10	129231688	129231688	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:129231688G>T	ENST00000280333.6	+	48	5102	c.4993G>T	c.(4993-4995)Gac>Tac	p.D1665Y		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1665					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.D1665Y(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACCAGGCTCCGACGGGTGAGT	0.597																																						uc001ljt.2																			1	Substitution - Missense(1)	p.D1665Y(1)	central_nervous_system(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(4993-4995)GAC>TAC		dedicator of cytokinesis 1							55.0	59.0	58.0					10																	129231688		1986	4159	6145	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129231688G>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4993G>T	10.37:g.129231688G>T	ENSP00000280333:p.Asp1665Tyr					DOCK1_uc010qun.1_Missense_Mutation_p.D1686Y|DOCK1_uc009yaq.2_Missense_Mutation_p.D660Y	p.D1665Y	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	48	5057	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1665					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4993G>T		.	.	.	.	.	.	.	.	.	.	G	18.58	3.654812	0.67472	.	.	ENSG00000150760	ENST00000280333	T	0.03951	3.75	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.75020	0.965;0.985;0.965	T	0.00148	-1.1989	10	0.62326	D	0.03	.	18.5284	0.90981	0.0:0.0:1.0:0.0	.	1665;1731;1665	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	Y	1665	ENSP00000280333:D1665Y	ENSP00000280333:D1665Y	D	+	1	0	DOCK1	129121678	1.000000	0.71417	0.870000	0.34147	0.505000	0.33919	8.850000	0.92190	2.605000	0.88082	0.655000	0.94253	GAC		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
NELL1	4745	broad.mit.edu	37	11	20949959	20949959	+	Missense_Mutation	SNP	C	C	T	rs150066751		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:20949959C>T	ENST00000357134.5	+	9	1083	c.931C>T	c.(931-933)Cct>Tct	p.P311S	NELL1_ENST00000532434.1_Missense_Mutation_p.P311S|NELL1_ENST00000298925.5_Missense_Mutation_p.P339S|NELL1_ENST00000325319.5_Missense_Mutation_p.P254S	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	311	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCTGTCCCCCTCTCAATTG	0.537																																						uc001mqe.2																			0				ovary(2)|large_intestine(1)	3						c.(931-933)CCT>TCT		nel-like 1 isoform 1 precursor		C	SER/PRO,SER/PRO	4,4402	8.1+/-20.4	0,4,2199	196.0	155.0	169.0		931,931	5.9	1.0	11	dbSNP_134	169	0,8600		0,0,4300	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	74,74	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	311/811,311/764	20949959	4,13002	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20949959C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.931C>T	11.37:g.20949959C>T	ENSP00000349654:p.Pro311Ser					NELL1_uc001mqf.2_Missense_Mutation_p.P311S|NELL1_uc009yid.2_Missense_Mutation_p.P339S|NELL1_uc010rdo.1_Missense_Mutation_p.P254S|NELL1_uc010rdp.1_Missense_Mutation_p.P71S	p.P311S	NM_006157	NP_006148	Q92832	NELL1_HUMAN			9	1084	+			311			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.931C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921411	0.73213	9.08E-4	0.0	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.93	5.93	0.95920	von Willebrand factor, type C (4);	0.055937	0.64402	D	0.000001	T	0.72882	0.3516	L	0.41632	1.29	0.58432	D	0.999999	P;P;B;P	0.51147	0.928;0.942;0.046;0.864	P;P;B;P	0.54759	0.526;0.76;0.041;0.658	T	0.64659	-0.6355	10	0.07325	T	0.83	-12.5445	20.328	0.98708	0.0:1.0:0.0:0.0	.	254;339;311;311	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	S	339;311;254;311	ENSP00000298925:P339S;ENSP00000349654:P311S;ENSP00000317837:P254S;ENSP00000437170:P311S	ENSP00000298925:P339S	P	+	1	0	NELL1	20906535	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.775000	0.75018	2.802000	0.96397	0.561000	0.74099	CCT		0.537	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
PACS1	55690	broad.mit.edu	37	11	65988123	65988123	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:65988123G>A	ENST00000320580.4	+	9	1093	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	354					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCTGGAGCATGTGTCCCGCGA	0.517																																						uc001oha.1																			0				ovary(6)	6						c.(1060-1062)GTG>ATG		phosphofurin acidic cluster sorting protein 1							93.0	87.0	89.0					11																	65988123		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65988123G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1060G>A	11.37:g.65988123G>A	ENSP00000316454:p.Val354Met						p.V354M	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			9	1194	+			354			Potential.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.1060G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510200	0.85282	.	.	ENSG00000175115	ENST00000320580	T	0.17370	2.28	5.2	5.2	0.72013	.	0.061308	0.64402	D	0.000004	T	0.25717	0.0626	L	0.43152	1.355	0.80722	D	1	P	0.50943	0.94	P	0.50440	0.641	T	0.00563	-1.1669	10	0.45353	T	0.12	-13.761	17.4913	0.87704	0.0:0.0:1.0:0.0	.	354	Q6VY07	PACS1_HUMAN	M	354	ENSP00000316454:V354M	ENSP00000316454:V354M	V	+	1	0	PACS1	65744699	1.000000	0.71417	0.233000	0.24025	0.929000	0.56500	9.446000	0.97590	2.431000	0.82371	0.484000	0.47621	GTG		0.517	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
PRMT8	56341	broad.mit.edu	37	12	3649947	3649947	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:3649947G>T	ENST00000382622.3	+	2	641	c.251G>T	c.(250-252)gGg>gTg	p.G84V	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.G75V	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	84	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCCCACTTTGGGATCCACGAG	0.532																																						uc001qmf.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(250-252)GGG>GTG		HMT1 hnRNP methyltransferase-like 4							129.0	132.0	131.0					12																	3649947		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649947G>T	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.251G>T	12.37:g.3649947G>T	ENSP00000372067:p.Gly84Val					PRMT8_uc009zed.2_Missense_Mutation_p.G75V|PRMT8_uc009zee.1_RNA	p.G84V	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	618	+			84					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.251G>T	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634374	0.67130	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.24350	1.86;1.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.83118	2.625	0.80722	D	1	P;P	0.43024	0.798;0.696	B;B	0.40375	0.327;0.229	T	0.45425	-0.9262	10	0.87932	D	0	.	17.4274	0.87530	0.0:0.0:1.0:0.0	.	75;84	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	V	75;84	ENSP00000414507:G75V;ENSP00000372067:G84V	ENSP00000372067:G84V	G	+	2	0	PRMT8	3520208	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	9.813000	0.99286	2.717000	0.92951	0.563000	0.77884	GGG		0.532	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
DDX12P	440081	broad.mit.edu	37	12	9590605	9590605	+	IGR	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:9590605A>C								RP13-735L24.1 (40392 upstream) : SNORA75 (7048 downstream)																							CCCAGGTCTCACCTTCAGTCG	0.602																																						uc010sgs.1																			0					0						c.e3+1		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							52.0	66.0	62.0					12																	9590605		676	1583	2259	SO:0001628	intergenic_variant	440081							g.chr12:9590605A>C																													12.37:g.9590605A>C						DDX12_uc009zgq.1_5'Flank	p.K131_splice	NM_004400	NP_004391					3	588	-									Splice_Site	SNP		37	c.393_splice																																																																																				0	0.602								
TMEM132D	121256	broad.mit.edu	37	12	129694197	129694197	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:129694197G>A	ENST00000422113.2	-	5	1637	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	437					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGTGTTCAGGATTTCTGCCT	0.617																																						uc009zyl.1																			0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1309-1311)ATC>ATT		transmembrane protein 132D precursor							91.0	73.0	79.0					12																	129694197		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129694197G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1311C>T	12.37:g.129694197G>A							p.I437I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	5	1639	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	437			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1311C>T	CCDS9266.1																																																																																				0.617	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
MTUS2	23281	broad.mit.edu	37	13	29599308	29599308	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:29599308T>C	ENST00000431530.3	+	1	561	c.503T>C	c.(502-504)gTt>gCt	p.V168A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	158						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCCGGCATGTTCCCAAGGAT	0.507																																						uc001usl.3																			0					0						c.(502-504)GTT>GCT		hypothetical protein LOC23281 isoform a							93.0	95.0	94.0					13																	29599308		2010	4192	6202	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599308T>C	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.503T>C	13.37:g.29599308T>C	ENSP00000392057:p.Val168Ala						p.V168A	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	561	+			158					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.503T>C	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	11.36	1.614658	0.28712	.	.	ENSG00000132938	ENST00000431530	T	0.14022	2.54	5.18	-3.86	0.04230	.	1.312740	0.05390	N	0.538802	T	0.06005	0.0156	N	0.03115	-0.41	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.43637	-0.9379	9	.	.	.	.	11.1437	0.48417	0.0:0.4203:0.0:0.5797	.	158	Q5JR59	MTUS2_HUMAN	A	168	ENSP00000392057:V168A	.	V	+	2	0	MTUS2	28497308	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.109000	0.15417	-1.002000	0.03429	0.459000	0.35465	GTT		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
SLITRK6	84189	broad.mit.edu	37	13	86370526	86370526	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:86370526T>G	ENST00000400286.2	-	2	716	c.118A>C	c.(118-120)Aaa>Caa	p.K40Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	40	LRRNT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTGCCATCTTTTTCCTCACAA	0.388																																						uc001vll.1																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(118-120)AAA>CAA		slit and trk like 6 precursor							91.0	86.0	87.0					13																	86370526		1885	4109	5994	SO:0001583	missense	84189					integral to membrane		g.chr13:86370526T>G	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.118A>C	13.37:g.86370526T>G	ENSP00000383143:p.Lys40Gln					SLITRK6_uc010afe.1_5'Flank	p.K40Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	577	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		40			LRRNT 1.|Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.118A>C	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770078	0.69992	.	.	ENSG00000184564	ENST00000400286	T	0.59083	0.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.75616	-0.3256	10	0.49607	T	0.09	-25.7009	15.6463	0.77055	0.0:0.0:0.0:1.0	.	40	Q9H5Y7	SLIK6_HUMAN	Q	40	ENSP00000383143:K40Q	ENSP00000383143:K40Q	K	-	1	0	SLITRK6	85268527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.281000	0.72632	2.371000	0.80710	0.533000	0.62120	AAA		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
FOXA1	3169	broad.mit.edu	37	14	38060897	38060897	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:38060897G>A	ENST00000250448.2	-	2	1153	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.P331P	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	364					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCAGCGCCCCGGGCCCGGAGC	0.697																																						uc001wuf.2																			0					0						c.(1090-1092)CCC>CCT		forkhead box A1							10.0	10.0	10.0					14																	38060897		2185	4270	6455	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060897G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1092C>T	14.37:g.38060897G>A						FOXA1_uc010tpz.1_Silent_p.P331P	p.P364P	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1404	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		364					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.1092C>T	CCDS9665.1																																																																																				0.697	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
SIPA1L1	26037	broad.mit.edu	37	14	72055586	72055586	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:72055586C>T	ENST00000555818.1	+	2	1345	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.H333Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.H333Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	333					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTGCTTTGCCCACTATGATGT	0.448																																						uc001xms.2																			0				ovary(3)|breast(1)	4						c.(997-999)CAC>TAC		signal-induced proliferation-associated 1 like							69.0	72.0	71.0					14																	72055586		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055586C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.997C>T	14.37:g.72055586C>T	ENSP00000450832:p.His333Tyr					SIPA1L1_uc001xmt.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmu.2_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmv.2_Missense_Mutation_p.H333Y	p.H333Y	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1345	+			333					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.997C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009101	0.54361	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.86164	-2.08;-2.03;-2.08	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94178	0.8132	M	0.80616	2.505	0.80722	D	1	P;D;D	0.89917	0.929;1.0;0.981	P;D;D	0.91635	0.775;0.999;0.954	D	0.93500	0.6843	10	0.59425	D	0.04	-29.4545	20.6593	0.99626	0.0:1.0:0.0:0.0	.	333;333;333	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	Y	333	ENSP00000370630:H333Y;ENSP00000450832:H333Y;ENSP00000351352:H333Y	ENSP00000351352:H333Y	H	+	1	0	SIPA1L1	71125339	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CAC		0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
FAM181A	90050	broad.mit.edu	37	14	94394688	94394688	+	Silent	SNP	C	C	T	rs369127722		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94394688C>T	ENST00000267594.5	+	3	550	c.243C>T	c.(241-243)agC>agT	p.S81S	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000556222.1_Silent_p.S19S|FAM181A_ENST00000557000.2_Silent_p.S19S|FAM181A_ENST00000557719.1_Silent_p.S19S	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	81										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGGCGTCCAGCGACATCAAGG	0.587																																						uc001ybz.1																			0					0						c.(241-243)AGC>AGT		hypothetical protein LOC90050		C	,,,,	1,4405		0,1,2202	77.0	67.0	71.0		57,57,57,57,243	-9.6	0.5	14		71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM181A	NM_001207071.1,NM_001207072.1,NM_001207073.1,NM_001207074.1,NM_138344.4	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	19/293,19/293,19/293,19/293,81/355	94394688	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90050							g.chr14:94394688C>T	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.243C>T	14.37:g.94394688C>T						C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.S19S|FAM181A_uc001yca.1_Silent_p.S19S	p.S81S	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN			3	550	+			81					B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	c.243C>T	CCDS9914.1																																																																																				0.587	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
SERPINA11	256394	broad.mit.edu	37	14	94914503	94914503	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94914503C>T	ENST00000334708.3	-	2	673	c.609G>A	c.(607-609)acG>acA	p.T203T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	203					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAACCATGAACGTGTCCTGGC	0.473																																						uc001ydd.1																			0				kidney(1)	1						c.(607-609)ACG>ACA		serpin peptidase inhibitor, clade A (alpha-1							97.0	98.0	97.0					14																	94914503		2203	4300	6503	SO:0001819	synonymous_variant	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914503C>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.609G>A	14.37:g.94914503C>T							p.T203T	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	669	-			203					B2RV07	Silent	SNP	ENST00000334708.3	37	c.609G>A	CCDS32149.1																																																																																				0.473	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
RYR3	6263	broad.mit.edu	37	15	34077951	34077951	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:34077951G>T	ENST00000389232.4	+	66	9427	c.9357G>T	c.(9355-9357)gaG>gaT	p.E3119D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3119D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3119					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGGCCGAGTCAGGGGCCC	0.567																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9355-9357)GAG>GAT		ryanodine receptor 3							94.0	110.0	105.0					15																	34077951		2179	4291	6470	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34077951G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9357G>T	15.37:g.34077951G>T	ENSP00000373884:p.Glu3119Asp					RYR3_uc010bar.2_Missense_Mutation_p.E3119D	p.E3119D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9427	+		all_lung(180;7.18e-09)	3119					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9357G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835162	0.71373	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.89415	-2.51;-2.51	5.13	3.26	0.37387	.	0.062219	0.64402	D	0.000006	D	0.92021	0.7472	M	0.77616	2.38	0.46678	D	0.999156	D;D	0.67145	0.996;0.991	P;P	0.58928	0.848;0.837	D	0.91787	0.5440	10	0.52906	T	0.07	.	10.6011	0.45367	0.2106:0.0:0.7894:0.0	.	3119;3119	Q15413-2;Q15413	.;RYR3_HUMAN	D	3119	ENSP00000373884:E3119D;ENSP00000399610:E3119D	ENSP00000354735:E3119D	E	+	3	2	RYR3	31865243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.743000	0.47442	1.534000	0.49203	0.655000	0.94253	GAG		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
TYRO3	7301	broad.mit.edu	37	15	41860451	41860451	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:41860451G>A	ENST00000263798.3	+	8	1222	c.998G>A	c.(997-999)cGc>cAc	p.R333H	TYRO3_ENST00000559066.1_Missense_Mutation_p.R288H	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	333	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATGCCATCCGCACAGATTCA	0.562																																						uc001zof.1																			0				ovary(3)|lung(2)|central_nervous_system(1)	6						c.(997-999)CGC>CAC		TYRO3 protein tyrosine kinase precursor							63.0	61.0	62.0					15																	41860451		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41860451G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.998G>A	15.37:g.41860451G>A	ENSP00000263798:p.Arg333His						p.R333H	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	8	1222	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	333			Fibronectin type-III 2.|Extracellular (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.998G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316030	0.40996	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57595	0.39	4.96	-2.71	0.05986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.376159	0.19566	N	0.111203	T	0.38321	0.1036	L	0.58101	1.795	0.28222	N	0.926492	B	0.12013	0.005	B	0.08055	0.003	T	0.33523	-0.9865	10	0.15066	T	0.55	-0.5506	7.1691	0.25708	0.6035:0.0:0.2672:0.1293	.	333	Q06418	TYRO3_HUMAN	H	265;333	ENSP00000263798:R333H	ENSP00000263798:R333H	R	+	2	0	TYRO3	39647743	0.235000	0.23794	0.934000	0.37439	0.913000	0.54294	-0.030000	0.12308	-0.684000	0.05183	0.563000	0.77884	CGC		0.562	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
CCDC33	80125	broad.mit.edu	37	15	74554903	74554903	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:74554903C>T	ENST00000398814.3	+	3	739	c.308C>T	c.(307-309)gCa>gTa	p.A103V	CCDC33_ENST00000321288.5_Missense_Mutation_p.A306V	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	306										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGAGGATGCAGGGCAAGAA	0.587																																						uc002axo.2																			0				ovary(3)|skin(2)	5						c.(307-309)GCA>GTA		coiled-coil domain containing 33 isoform 1							23.0	26.0	25.0					15																	74554903		2072	4193	6265	SO:0001583	missense	80125						protein binding	g.chr15:74554903C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.308C>T	15.37:g.74554903C>T	ENSP00000381795:p.Ala103Val						p.A103V	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			3	702	+			306			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.308C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	9.871	1.199037	0.22121	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.38240	1.15;1.15	4.67	-2.81	0.05805	.	0.762106	0.10286	N	0.692987	T	0.22166	0.0534	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.24404	-1.0161	10	0.42905	T	0.14	.	9.4527	0.38736	0.0:0.2647:0.0:0.7353	.	103	Q8N5R6-6	.	V	306;103	ENSP00000325012:A306V;ENSP00000381795:A103V	ENSP00000325012:A306V	A	+	2	0	CCDC33	72341956	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.722000	0.04958	-0.419000	0.07439	0.462000	0.41574	GCA		0.587	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791	
BCL2A1	597	broad.mit.edu	37	15	80263133	80263133	+	Missense_Mutation	SNP	G	G	A	rs143571009		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:80263133G>A	ENST00000267953.3	-	1	655	c.329C>T	c.(328-330)cCg>cTg	p.P110L	BCL2A1_ENST00000335661.6_Missense_Mutation_p.P110L	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	110					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATCCACATCCGGGGCAATTTG	0.403																																						uc002bfc.3																			0				pancreas(1)	1						c.(328-330)CCG>CTG		BCL2-related protein A1 isoform 1		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	134.0	139.0	137.0		329,329	-1.9	0.0	15	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BCL2A1	NM_001114735.1,NM_004049.3	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	110/164,110/176	80263133	1,13005	2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263133G>A		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.329C>T	15.37:g.80263133G>A	ENSP00000267953:p.Pro110Leu					BCL2A1_uc002bfd.3_Missense_Mutation_p.P110L	p.P110L	NM_004049	NP_004040	Q16548	B2LA1_HUMAN			1	511	-			110					Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.329C>T	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	G	3.728	-0.056165	0.07362	0.0	1.16E-4	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.18174	2.23;2.23	5.63	-1.91	0.07641	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.726491	0.12825	N	0.436089	T	0.07413	0.0187	N	0.12502	0.225	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.36286	-0.9754	10	0.25106	T	0.35	-19.5831	6.606	0.22726	0.5593:0.1323:0.3084:0.0	.	110;110	Q86W13;Q16548	.;B2LA1_HUMAN	L	110	ENSP00000267953:P110L;ENSP00000335250:P110L	ENSP00000267953:P110L	P	-	2	0	BCL2A1	78050188	0.680000	0.27605	0.000000	0.03702	0.089000	0.18198	0.607000	0.24209	-0.219000	0.10003	-0.345000	0.07892	CCG		0.403	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049	
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						uc010uny.1																			12	Substitution - coding silent(12)		kidney(6)|endometrium(4)|prostate(2)		0						c.(439-441)GTA>GTG		golgi autoantigen, golgin subfamily a, 6D-like																																				SO:0001819	synonymous_variant	647042							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C						GOLGA6L10_uc010unt.1_RNA|uc002bhl.2_Intron|uc002bhm.2_Intron|GOLGA6L10_uc002bia.1_5'Flank	p.V147V	NM_198181	NP_937824	A6NI86	GG6LA_HUMAN			6	539	-			159			Potential.			Silent	SNP	ENST00000557886.1	37	c.441A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
ALPK3	57538	broad.mit.edu	37	15	85400203	85400203	+	Missense_Mutation	SNP	C	C	A	rs142677464		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:85400203C>A	ENST00000258888.5	+	6	3007	c.2840C>A	c.(2839-2841)gCg>gAg	p.A947E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	947					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACCTACAGCGGGTCCTAGA	0.562																																						uc002ble.2																			0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2839-2841)GCG>GAG		alpha-kinase 3							76.0	88.0	84.0					15																	85400203		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400203C>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2840C>A	15.37:g.85400203C>A	ENSP00000258888:p.Ala947Glu						p.A947E	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3007	+			947					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2840C>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634057	0.00806	.	.	ENSG00000136383	ENST00000258888	T	0.56275	0.47	3.94	-1.51	0.08664	.	17.448300	0.00166	N	0.000000	T	0.17152	0.0412	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36286	-0.9754	10	0.02654	T	1	-8.143	0.927	0.01327	0.3389:0.3178:0.1916:0.1517	.	947	Q96L96	ALPK3_HUMAN	E	947	ENSP00000258888:A947E	ENSP00000258888:A947E	A	+	2	0	ALPK3	83201207	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.392000	0.07314	-0.235000	0.09767	-1.743000	0.00684	GCG		0.562	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
PEX11A	8800	broad.mit.edu	37	15	90226684	90226684	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:90226684C>T	ENST00000300056.3	-	3	817	c.668G>A	c.(667-669)gGa>gAa	p.G223E	PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.G192E	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	223					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCTCCAAGTCCAATGATGCC	0.483																																						uc002boi.2																			0					0						c.(667-669)GGA>GAA		peroxisomal biogenesis factor 11 alpha							251.0	251.0	251.0					15																	90226684		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226684C>T	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.668G>A	15.37:g.90226684C>T	ENSP00000300056:p.Gly223Glu					PEX11A_uc010upy.1_RNA	p.G223E	NM_003847	NP_003838	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	763	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		223			Helical; (Potential).		B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.668G>A	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772264	0.90108	.	.	ENSG00000166821	ENST00000300056	T	0.70399	-0.48	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88496	0.3079	10	0.87932	D	0	-13.9724	17.9471	0.89042	0.0:1.0:0.0:0.0	.	223	O75192	PX11A_HUMAN	E	223	ENSP00000300056:G223E	ENSP00000300056:G223E	G	-	2	0	PEX11A	88027688	1.000000	0.71417	0.898000	0.35279	0.998000	0.95712	7.233000	0.78125	2.711000	0.92665	0.655000	0.94253	GGA		0.483	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847	
ALG1	56052	broad.mit.edu	37	16	5128838	5128838	+	Missense_Mutation	SNP	G	G	A	rs529013891	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr16:5128838G>A	ENST00000262374.5	+	7	852	c.821G>A	c.(820-822)cGt>cAt	p.R274H	ALG1_ENST00000544428.1_Missense_Mutation_p.R163H|ALG1_ENST00000588623.1_Missense_Mutation_p.R163H	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	274					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGCGTCTCCGTGAGCGGCCA	0.652													G|||	4	0.000798722	0.0	0.0	5008	,	,		15773	0.0		0.0	False		,,,				2504	0.0041					uc002cym.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(820-822)CGT>CAT		beta-1,4-mannosyltransferase							22.0	23.0	23.0					16																	5128838		2195	4298	6493	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5128838G>A	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.821G>A	16.37:g.5128838G>A	ENSP00000262374:p.Arg274His					ALG1_uc002cyj.2_Missense_Mutation_p.R163H|ALG1_uc002cyn.2_Missense_Mutation_p.R274H|ALG1_uc010bue.2_Missense_Mutation_p.R163H|ALG1_uc010uxy.1_Missense_Mutation_p.R163H	p.R274H	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			7	862	+		Ovarian(90;0.0164)	274			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.821G>A	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846565	0.32606	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	T;T	0.75260	-0.92;-0.92	5.32	-8.55	0.00908	Glycosyl transferase, family 1 (1);	1.369170	0.03939	N	0.286543	T	0.42877	0.1222	N	0.01800	-0.715	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.34625	-0.9821	10	0.25751	T	0.34	1.3038	8.3992	0.32574	0.4533:0.4182:0.1285:0.0	.	163;274	B4DP08;Q9BT22	.;ALG1_HUMAN	H	274;163	ENSP00000262374:R274H;ENSP00000440019:R163H	ENSP00000262374:R274H	R	+	2	0	ALG1	5068839	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.126000	0.03254	-1.425000	0.01997	-1.049000	0.02347	CGT		0.652	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109	
CTNS	1497	broad.mit.edu	37	17	3567085	3567085	+	IGR	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:3567085C>T	ENST00000046640.3	+	0	2866				TAX1BP3_ENST00000225525.3_Missense_Mutation_p.R111Q|P2RX5-TAX1BP3_ENST00000550383.1_3'UTR	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter						adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CAGCGACTGCCGCGTCACCAG	0.647																																						uc002fwc.2																			0					0						c.(331-333)CGG>CAG		Tax1 binding protein 3							27.0	28.0	27.0					17																	3567085		2200	4299	6499	SO:0001628	intergenic_variant	30851				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	g.chr17:3567085C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693		17.37:g.3567085C>T						P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_3'UTR	p.R111Q	NM_014604	NP_055419	O14907	TX1B3_HUMAN		COAD - Colon adenocarcinoma(5;0.0761)	4	485	-			111			PDZ.		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	c.332G>A	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	c	33	5.241405	0.95272	.	.	ENSG00000213977	ENST00000225525	T	0.27256	1.68	5.05	4.09	0.47781	PDZ/DHR/GLGF (3);	0.000000	0.85682	U	0.000000	T	0.47985	0.1475	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50964	-0.8765	10	0.87932	D	0	.	12.8477	0.57839	0.0:0.9205:0.0:0.0795	.	111	O14907	TX1B3_HUMAN	Q	111	ENSP00000225525:R111Q	ENSP00000225525:R111Q	R	-	2	0	TAX1BP3	3513834	1.000000	0.71417	0.965000	0.40720	0.798000	0.45092	5.886000	0.69743	1.276000	0.44395	0.556000	0.70494	CGG		0.647	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937	
ENO3	2027	broad.mit.edu	37	17	4860277	4860277	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:4860277G>A	ENST00000323997.6	+	12	1372	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ENO3_ENST00000519584.1_Missense_Mutation_p.E371K|ENO3_ENST00000518175.1_Missense_Mutation_p.E414K	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	414					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TTCTAGGATCGAGGAGGCTCT	0.577											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gab.3																			0				ovary(1)	1						c.(1240-1242)GAG>AAG		enolase 3							165.0	164.0	165.0					17																	4860277		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4860277G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1240G>A	17.37:g.4860277G>A	ENSP00000324105:p.Glu414Lys		OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	ENO3_uc002gac.3_Missense_Mutation_p.E414K|ENO3_uc010vss.1_Missense_Mutation_p.E371K|ENO3_uc010vst.1_Missense_Mutation_p.E241K	p.E414K	NM_053013	NP_443739	P13929	ENOB_HUMAN			12	1334	+			414					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.1240G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438508	0.96168	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	T;T;T	0.62105	0.05;0.05;0.05	5.93	5.93	0.95920	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.91663	3.23	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;P;D	0.63488	0.915;0.778;0.915	D	0.86040	0.1519	10	0.87932	D	0	-26.8125	17.9021	0.88907	0.0:0.0:1.0:0.0	.	414;371;414	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	K	414;371;414	ENSP00000324105:E414K;ENSP00000430636:E371K;ENSP00000431087:E414K	ENSP00000324105:E414K	E	+	1	0	ENO3	4801001	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.670000	0.68088	2.833000	0.97629	0.650000	0.86243	GAG		0.577	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2		
ALOX12B	242	broad.mit.edu	37	17	7984477	7984477	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:7984477G>A	ENST00000319144.4	-	3	641	c.381C>T	c.(379-381)ccC>ccT	p.P127P	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	127	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		P -> S (in ARCI2). {ECO:0000269|PubMed:16116617}.		arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCAGGAGGACGGGGAGCGAGT	0.617										Multiple Myeloma(8;0.094)																												uc002gjy.1																			0					0						c.(379-381)CCC>CCT		arachidonate 12-lipoxygenase, 12R type							83.0	69.0	74.0					17																	7984477		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984477G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.381C>T	17.37:g.7984477G>A		Multiple Myeloma(8;0.094)				uc010cnq.1_RNA	p.P127P	NM_001139	NP_001130	O75342	LX12B_HUMAN			3	642	-			127			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.381C>T	CCDS11129.1																																																																																				0.617	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
USH1G	124590	broad.mit.edu	37	17	72916074	72916074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:72916074G>A	ENST00000319642.1	-	2	1039	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	286					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCCAGCGTGGCACGGGAGAC	0.687																																						uc002jme.1																			0				skin(2)	2						c.(856-858)GCC>GTC		Usher syndrome 1G protein							37.0	47.0	44.0					17																	72916074		2200	4295	6495	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916074G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.857C>T	17.37:g.72916074G>A	ENSP00000320076:p.Ala286Val					USH1G_uc010wro.1_Missense_Mutation_p.A183V	p.A286V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	1040	-	all_lung(278;0.172)|Lung NSC(278;0.207)		286					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.857C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778279	0.70107	.	.	ENSG00000182040	ENST00000319642	T	0.71222	-0.55	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	L	0.55481	1.735	0.80722	D	1	P	0.39480	0.675	B	0.30105	0.111	T	0.64571	-0.6376	10	0.27082	T	0.32	-25.9375	16.8778	0.86056	0.0:0.0:1.0:0.0	.	286	Q495M9	USH1G_HUMAN	V	286	ENSP00000320076:A286V	ENSP00000320076:A286V	A	-	2	0	USH1G	70427669	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.564000	0.73969	2.227000	0.72691	0.485000	0.47835	GCC		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477	
FOXJ1	2302	broad.mit.edu	37	17	74136123	74136123	+	Silent	SNP	C	C	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:74136123C>A	ENST00000322957.6	-	2	708	c.354G>T	c.(352-354)ccG>ccT	p.P118P	RNF157-AS1_ENST00000586627.1_RNA|RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	118					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTTCACGTGCGGATTGGTGG	0.667																																						uc002jqw.2																			0				pancreas(1)	1						c.(352-354)CCG>CCT		forkhead box J1							74.0	55.0	62.0					17																	74136123		2203	4300	6503	SO:0001819	synonymous_variant	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74136123C>A	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.354G>T	17.37:g.74136123C>A						FOXJ1_uc002jqx.2_Silent_p.P118P|uc002jqy.1_5'Flank	p.P118P	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		1	444	-			118					O00630	Silent	SNP	ENST00000322957.6	37	c.354G>T	CCDS32739.1																																																																																				0.667	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454	
GAREM	64762	broad.mit.edu	37	18	29890192	29890192	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:29890192G>A	ENST00000269209.6	-	3	360	c.357C>T	c.(355-357)cgC>cgT	p.R119R	GAREM_ENST00000399218.4_Silent_p.R119R|GAREM_ENST00000578619.1_5'UTR			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	119	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TGACGTACACGCGTTCAGGAA	0.413																																						uc002kxl.2																			0				ovary(1)|skin(1)	2						c.(355-357)CGC>CGT		family with sequence similarity 59, member A							250.0	213.0	225.0					18																	29890192		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29890192G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.357C>T	18.37:g.29890192G>A						FAM59A_uc002kxk.1_Silent_p.R119R	p.R119R	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			3	413	-			119			CABIT.		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.357C>T	CCDS56057.1																																																																																				0.413	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
SERPINB5	5268	broad.mit.edu	37	18	61156656	61156656	+	Missense_Mutation	SNP	C	C	T	rs145559318		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:61156656C>T	ENST00000382771.4	+	4	675	c.383C>T	c.(382-384)aCg>aTg	p.T128M	SERPINB5_ENST00000489441.1_Missense_Mutation_p.T128M	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	128					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTGGAAGAAACGAAAGGTCAG	0.388																																						uc002liz.3																			0				ovary(1)	1						c.(382-384)ACG>ATG		serine (or cysteine) proteinase inhibitor, clade							121.0	114.0	117.0					18																	61156656		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61156656C>T	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.383C>T	18.37:g.61156656C>T	ENSP00000372221:p.Thr128Met					SERPINB5_uc002liy.2_Missense_Mutation_p.T128M	p.T128M	NM_002639	NP_002630	P36952	SPB5_HUMAN			4	525	+			128					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.383C>T	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610883	0.87258	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84730	-1.89;-1.85	5.75	5.75	0.90469	Serpin domain (3);	0.064498	0.64402	D	0.000004	D	0.93743	0.8000	M	0.87038	2.855	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.93834	0.7130	10	0.72032	D	0.01	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	128;128	P36952;P36952-2	SPB5_HUMAN;.	M	128	ENSP00000372221:T128M;ENSP00000408821:T128M	ENSP00000372221:T128M	T	+	2	0	SERPINB5	59307636	0.996000	0.38824	0.996000	0.52242	0.993000	0.82548	3.725000	0.54970	2.880000	0.98712	0.655000	0.94253	ACG		0.388	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639	
MUC16	94025	broad.mit.edu	37	19	9067989	9067989	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:9067989A>G	ENST00000397910.4	-	3	19660	c.19457T>C	c.(19456-19458)tTg>tCg	p.L6486S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6488	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						AAGAGTGGACAAATCTAATTG	0.488																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19456-19458)TTG>TCG		mucin 16							163.0	162.0	162.0					19																	9067989		1983	4156	6139	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067989A>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.19457T>C	19.37:g.9067989A>G	ENSP00000381008:p.Leu6486Ser						p.L6486S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19661	-			6488			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19457T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.585	-0.296628	0.05532	.	.	ENSG00000181143	ENST00000397910	T	0.23754	1.89	1.83	-2.91	0.05631	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.19943	-1.0290	8	0.87932	D	0	.	5.8134	0.18479	0.3195:0.0:0.0:0.6805	.	6486	B5ME49	.	S	6486	ENSP00000381008:L6486S	ENSP00000381008:L6486S	L	-	2	0	MUC16	8928989	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.254000	0.08781	-0.871000	0.04042	0.149000	0.16113	TTG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
SLC44A2	57153	broad.mit.edu	37	19	10742381	10742381	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:10742381G>A	ENST00000335757.5	+	8	958	c.582G>A	c.(580-582)ggG>ggA	p.G194G	SLC44A2_ENST00000407327.4_Silent_p.G192G|SLC44A2_ENST00000586078.1_Silent_p.G194G			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	194					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGAGGATGGGCATGGCTCCC	0.602																																						uc002mpf.2																			0				ovary(1)	1						c.(580-582)GGG>GGA		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						68.0	64.0	66.0					19																	10742381		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10742381G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.582G>A	19.37:g.10742381G>A						SLC44A2_uc002mpe.3_Silent_p.G192G	p.G194G	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		8	721	+			194			Extracellular (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.582G>A	CCDS12245.1																																																																																				0.602	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		
PSG7	5676	broad.mit.edu	37	19	43429925	43429925	+	RNA	SNP	C	C	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:43429925C>A	ENST00000406070.2	-	0	1339				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ATCCACTTACCAGAGACTCTG	0.483																																						uc002ovl.3																			0					0						c.(1243-1245)GAC>TAC		pregnancy specific beta-1-glycoprotein 7							195.0	197.0	196.0					19																	43429925		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43429925C>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43429925C>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.A328S|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.A141S|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.D328Y|PSG7_uc010xwl.1_Missense_Mutation_p.D293Y	p.D415Y	NM_002783	NP_002774	Q13046	PSG7_HUMAN			6	1345	-		Prostate(69;0.00682)	415					Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.1243G>T																																																																																					0.483	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
ZNF45	7596	broad.mit.edu	37	19	44417709	44417709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:44417709delG	ENST00000269973.5	-	10	2969	c.1879delC	c.(1879-1881)cttfs	p.L627fs	ZNF45_ENST00000589703.1_Frame_Shift_Del_p.L627fs|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	627					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGGCTTGAAGGTATGAGCTC	0.488																																						uc002oxu.1																			0				ovary(1)	1						c.(1879-1881)CTTfs		zinc finger protein 45							162.0	141.0	148.0					19																	44417709		2203	4300	6503	SO:0001589	frameshift_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417709delG	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1879delC	19.37:g.44417709delG	ENSP00000269973:p.Leu627fs					ZNF45_uc002oxw.1_Frame_Shift_Del_p.L627fs|ZNF45_uc002oxv.1_Frame_Shift_Del_p.L627fs	p.L627fs	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	1978	-			627			C2H2-type 17.		P17016|P78472|Q9P1U9	Frame_Shift_Del	DEL	ENST00000269973.5	37	c.1879delC	CCDS12632.1																																																																																				0.488	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425	
CEACAM20	125931	broad.mit.edu	37	19	45029207	45029207	+	RNA	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:45029207G>A	ENST00000454753.1	-	0	401							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CACTTTGGGTGGCATCAAGTG	0.562																																						uc010ejn.1																			0				large_intestine(2)	2						c.(121-123)GCC>GCT		carcinoembryonic antigen-related cell adhesion							115.0	123.0	120.0					19																	45029207		2077	4215	6292			125931					integral to membrane		g.chr19:45029207G>A	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029207G>A						CEACAM20_uc010ejo.1_Silent_p.A41A|CEACAM20_uc010ejp.1_Silent_p.A41A|CEACAM20_uc010ejq.1_Silent_p.A41A	p.A41A	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			2	139	-		Prostate(69;0.0352)	41			Extracellular (Potential).			Silent	SNP	ENST00000454753.1	37	c.123C>T																																																																																					0.562	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
ZNF83	55769	broad.mit.edu	37	19	53116375	53116375	+	Silent	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:53116375T>C	ENST00000597597.1	-	2	3696	c.1443A>G	c.(1441-1443)ggA>ggG	p.G481G	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.G481G|ZNF83_ENST00000545872.1_Silent_p.G481G|ZNF83_ENST00000301096.3_Silent_p.G481G|ZNF83_ENST00000391789.4_Silent_p.G453G|ZNF83_ENST00000536937.1_Silent_p.G481G|ZNF83_ENST00000544146.1_Silent_p.G481G			P51522	ZNF83_HUMAN	zinc finger protein 83	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AATGTTTCTCTCCAGTGTGGA	0.388																																						uc002pzu.3																			0				ovary(1)	1						c.(1441-1443)GGA>GGG		zinc finger protein 83 isoform a							138.0	128.0	132.0					19																	53116375		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116375T>C	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1443A>G	19.37:g.53116375T>C						ZNF83_uc002pzv.3_Silent_p.G481G|ZNF83_uc010eps.2_Silent_p.G453G|ZNF83_uc010ept.2_Silent_p.G481G|ZNF83_uc010epu.2_Silent_p.G481G|ZNF83_uc010epv.2_Silent_p.G481G|ZNF83_uc010epw.2_Silent_p.G481G|ZNF83_uc010epx.2_Silent_p.G453G|ZNF83_uc010epy.2_Silent_p.G481G|ZNF83_uc010epz.2_Silent_p.G453G	p.G481G	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2687	-			481					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1443A>G	CCDS12854.1																																																																																				0.388	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300	
TMC4	147798	broad.mit.edu	37	19	54669199	54669199	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:54669199T>G	ENST00000376591.4	-	6	1048	c.917A>C	c.(916-918)gAc>gCc	p.D306A	TMC4_ENST00000476013.2_Intron|TMC4_ENST00000301187.4_Missense_Mutation_p.D300A|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	306					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACGTGGACGTCCCCGCAGAG	0.632																																						uc010erf.2																			0				pancreas(1)	1						c.(916-918)GAC>GCC		transmembrane channel-like 4 isoform 1							44.0	37.0	40.0					19																	54669199		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54669199T>G	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.917A>C	19.37:g.54669199T>G	ENSP00000365776:p.Asp306Ala					TMC4_uc002qdn.2_5'Flank|TMC4_uc002qdo.2_Missense_Mutation_p.D300A	p.D306A	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			6	1049	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		306			Extracellular (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.917A>C	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	T	9.431	1.085595	0.20390	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.49139	0.79;0.79	4.8	2.33	0.28932	.	0.497596	0.22835	N	0.055041	T	0.33760	0.0874	L	0.39245	1.2	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.004;0.005	T	0.17899	-1.0354	10	0.18276	T	0.48	-6.9361	8.8908	0.35432	0.0:0.0:0.4717:0.5283	.	306;300	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	A	300;306	ENSP00000301187:D300A;ENSP00000365776:D306A	ENSP00000301187:D300A	D	-	2	0	TMC4	59361011	0.001000	0.12720	0.549000	0.28204	0.829000	0.46940	0.556000	0.23438	0.782000	0.33613	0.529000	0.55759	GAC		0.632	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2		
NLRP9	338321	broad.mit.edu	37	19	56244390	56244390	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:56244390G>A	ENST00000332836.2	-	2	834	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	269	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAAGGAGAGAGGATTCTGGAA	0.408																																						uc002qly.2																			0				skin(4)|ovary(2)|breast(1)	7						c.(805-807)TCC>TCT		NLR family, pyrin domain containing 9							62.0	62.0	62.0					19																	56244390		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244390G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.807C>T	19.37:g.56244390G>A							p.S269S	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	835	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	269			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.807C>T	CCDS12934.1																																																																																				0.408	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2																			10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
FEZ2	9637	broad.mit.edu	37	2	36810520	36810520	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:36810520A>C	ENST00000405912.3	-	3	467	c.468T>G	c.(466-468)gaT>gaG	p.D156E	FEZ2_ENST00000379245.4_Missense_Mutation_p.D156E|FEZ2_ENST00000305852.7_5'UTR	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	156					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AGAGGGGTTCATCATTAACAC	0.438																																						uc002rph.2																			0				ovary(1)	1						c.(466-468)GAT>GAG		zygin 2 isoform 1							157.0	148.0	151.0					2																	36810520		1938	4144	6082	SO:0001583	missense	9637				axon guidance|signal transduction		protein binding	g.chr2:36810520A>C	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.468T>G	2.37:g.36810520A>C	ENSP00000385112:p.Asp156Glu					FEZ2_uc002rpe.2_5'Flank|FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rpg.2_Missense_Mutation_p.D156E|FEZ2_uc002rpi.2_Missense_Mutation_p.D11E|FEZ2_uc002rpj.2_Missense_Mutation_p.D156E	p.D156E	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN			3	515	-		all_hematologic(82;0.21)	156					Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	c.468T>G	CCDS46257.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.355987	0.01245	.	.	ENSG00000171055	ENST00000379245;ENST00000405912;ENST00000357996	T;T;T	0.26660	1.72;1.72;1.72	5.77	-11.5	0.00074	.	0.385535	0.31519	N	0.007505	T	0.04227	0.0117	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.50268	-0.8848	10	0.02654	T	1	-15.5423	1.3944	0.02257	0.4401:0.1035:0.156:0.3004	.	156;156;156	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	E	156;156;55	ENSP00000368547:D156E;ENSP00000385112:D156E;ENSP00000350685:D55E	ENSP00000350685:D55E	D	-	3	2	FEZ2	36664024	0.026000	0.19158	0.022000	0.16811	0.013000	0.08279	-0.743000	0.04845	-1.838000	0.01187	-1.001000	0.02504	GAT		0.438	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1		
CD8A	925	broad.mit.edu	37	2	87013056	87013056	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:87013056G>A	ENST00000409511.2	-	9	1725	c.695C>T	c.(694-696)gCg>gTg	p.A232V	CD8A_ENST00000409781.1_Missense_Mutation_p.A195V|CD8A_ENST00000538832.1_Missense_Mutation_p.A273V|CD8A_ENST00000352580.3_Missense_Mutation_p.A195V|CD8A_ENST00000283635.3_Missense_Mutation_p.A232V|CD8A_ENST00000456996.2_Missense_Mutation_p.A195V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	232					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GACGTATCTCGCCGAAAGGCT	0.507																																						uc002srt.2																			0				ovary(1)	1						c.(694-696)GCG>GTG		CD8 antigen alpha polypeptide isoform 1							187.0	182.0	184.0					2																	87013056		2203	4300	6503	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87013056G>A		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.695C>T	2.37:g.87013056G>A	ENSP00000386559:p.Ala232Val					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A232V|CD8A_uc010ytn.1_Missense_Mutation_p.A273V|CD8A_uc002sru.2_Missense_Mutation_p.A195V	p.A232V	NM_001768	NP_001759	P01732	CD8A_HUMAN			6	1584	-			232			Cytoplasmic (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.695C>T	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868240	0.72065	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.08;-1.08;-1.13;-1.09	4.03	2.88	0.33553	.	0.692087	0.15139	N	0.278366	T	0.51398	0.1672	N	0.08118	0	0.09310	N	1	B;B;B	0.31241	0.003;0.002;0.315	B;B;B	0.15870	0.0;0.001;0.014	T	0.43360	-0.9396	10	0.52906	T	0.07	-18.0343	4.2044	0.10481	0.0:0.1065:0.2083:0.6852	.	273;195;232	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	V	195;195;232;232;217;273;195	ENSP00000398868:A195V;ENSP00000321631:A195V;ENSP00000283635:A232V;ENSP00000386559:A232V;ENSP00000438371:A273V;ENSP00000387314:A195V	ENSP00000283635:A232V	A	-	2	0	CD8A	86866567	0.046000	0.20272	0.007000	0.13788	0.003000	0.03518	0.277000	0.18734	0.373000	0.24621	-0.256000	0.11100	GCG		0.507	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768	
TRIM43	129868	broad.mit.edu	37	2	96262159	96262159	+	Missense_Mutation	SNP	A	A	T	rs149986492	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:96262159A>T	ENST00000272395.2	+	4	853	c.717A>T	c.(715-717)aaA>aaT	p.K239N		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	239						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGTGTCATAAACCAGATGTGG	0.413																																						uc002suv.2																			0				ovary(1)	1						c.(715-717)AAA>AAT		tripartite motif-containing 43							72.0	60.0	64.0					2																	96262159		2199	4288	6487	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96262159A>T	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.717A>T	2.37:g.96262159A>T	ENSP00000272395:p.Lys239Asn						p.K239N	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			4	853	+			239					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.717A>T	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	16.21	3.059410	0.55325	.	.	ENSG00000144015	ENST00000272395	T	0.04706	3.57	1.33	1.33	0.21861	.	.	.	.	.	T	0.13543	0.0328	M	0.73217	2.22	0.22017	N	0.999412	D	0.62365	0.991	D	0.65773	0.938	T	0.14282	-1.0478	9	0.33141	T	0.24	-19.3978	4.9479	0.13999	1.0:0.0:0.0:0.0	.	239	Q96BQ3	TRI43_HUMAN	N	239	ENSP00000272395:K239N	ENSP00000272395:K239N	K	+	3	2	TRIM43	95625886	0.020000	0.18652	0.775000	0.31657	0.577000	0.36160	0.446000	0.21694	0.903000	0.36546	0.308000	0.20428	AAA		0.413	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800	
GPR148	344561	broad.mit.edu	37	2	131486773	131486773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:131486773G>A	ENST00000309926.4	+	1	131	c.49G>A	c.(49-51)Gcc>Acc	p.A17T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTTGGCCGGCCCTGATCCA	0.612																																						uc002trv.1																			0				skin(1)	1						c.(49-51)GCC>ACC		G protein-coupled receptor 148							100.0	99.0	99.0					2																	131486773		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486773G>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.49G>A	2.37:g.131486773G>A	ENSP00000308908:p.Ala17Thr						p.A17T	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	51	+	Colorectal(110;0.1)		17			Extracellular (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.49G>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	5.215	0.225126	0.09916	.	.	ENSG00000173302	ENST00000309926	T	0.07444	3.19	2.41	1.51	0.23008	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.47636	-0.9102	9	0.13470	T	0.59	0.0256	4.9326	0.13925	0.1753:0.0:0.8247:0.0	.	17	Q8TDV2	GP148_HUMAN	T	17	ENSP00000308908:A17T	ENSP00000308908:A17T	A	+	1	0	GPR148	131203243	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.936000	0.28938	0.582000	0.29556	0.462000	0.41574	GCC		0.612	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092	
PLCB1	23236	broad.mit.edu	37	20	8352082	8352082	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:8352082C>T	ENST00000338037.6	+	3	258	c.231C>T	c.(229-231)caC>caT	p.H77H	PLCB1_ENST00000378637.2_Silent_p.H77H|PLCB1_ENST00000378641.3_Silent_p.H77H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	77					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTGGGAGACACGCCAAAGCTC	0.468																																						uc002wnb.2																			0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(229-231)CAC>CAT		phosphoinositide-specific phospholipase C beta 1							168.0	135.0	146.0					20																	8352082		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8352082C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.231C>T	20.37:g.8352082C>T						PLCB1_uc010zrb.1_Translation_Start_Site|PLCB1_uc010gbv.1_Silent_p.H77H|PLCB1_uc002wmz.1_Silent_p.H77H|PLCB1_uc002wna.2_Silent_p.H77H	p.H77H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			3	234	+			77					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.231C>T	CCDS13102.1																																																																																				0.468	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
SSTR4	6754	broad.mit.edu	37	20	23016952	23016952	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:23016952G>T	ENST00000255008.3	+	1	896	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	278					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTTCTACGTGGTGCAGCTGCT	0.577																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			0				ovary(1)	1						c.(832-834)GTG>TTG		somatostatin receptor 4							203.0	209.0	207.0					20																	23016952		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016952G>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.832G>T	20.37:g.23016952G>T	ENSP00000255008:p.Val278Leu						p.V278L	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	896	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		278			Helical; Name=6; (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.832G>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351465	0.24512	.	.	ENSG00000132671	ENST00000255008	T	0.71698	-0.59	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	T	0.53802	0.1819	N	0.21448	0.665	0.44677	D	0.997669	B	0.15930	0.015	B	0.23716	0.048	T	0.46610	-0.9179	10	0.09084	T	0.74	.	13.4152	0.60963	0.0:0.0:1.0:0.0	.	278	P31391	SSR4_HUMAN	L	278	ENSP00000255008:V278L	ENSP00000255008:V278L	V	+	1	0	SSTR4	22964952	0.998000	0.40836	0.976000	0.42696	0.649000	0.38597	2.020000	0.41010	1.694000	0.51137	0.655000	0.94253	GTG		0.577	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1		
PREX1	57580	broad.mit.edu	37	20	47244458	47244458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:47244458G>A	ENST00000371941.3	-	38	4832	c.4810C>T	c.(4810-4812)Cgg>Tgg	p.R1604W	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1604					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1604W(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGTGGCTCCGTGCCAAGATG	0.692																																						uc002xtw.1																			1	Substitution - Missense(1)		kidney(1)	lung(3)|ovary(2)|pancreas(1)	6						c.(4810-4812)CGG>TGG		phosphatidylinositol-3,4,							48.0	36.0	40.0					20																	47244458		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47244458G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4810C>T	20.37:g.47244458G>A	ENSP00000361009:p.Arg1604Trp					PREX1_uc002xtv.1_Missense_Mutation_p.R901W	p.R1604W	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		38	4833	-			1604					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4810C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.130666	0.77549	.	.	ENSG00000124126	ENST00000371941	T	0.65178	-0.14	4.31	4.31	0.51392	.	0.000000	0.48767	U	0.000173	T	0.78991	0.4371	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82860	-0.0248	10	0.87932	D	0	.	16.7877	0.85578	0.0:0.0:1.0:0.0	.	1604;901	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	1604	ENSP00000361009:R1604W	ENSP00000361009:R1604W	R	-	1	2	PREX1	46677865	1.000000	0.71417	0.960000	0.40013	0.889000	0.51656	3.431000	0.52814	1.949000	0.56562	0.457000	0.33378	CGG		0.692	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
KCNG1	3755	broad.mit.edu	37	20	49621144	49621144	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:49621144C>T	ENST00000371571.4	-	3	1259	c.974G>A	c.(973-975)cGt>cAt	p.R325H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	325					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGCTTGCGACGGCCTGCGGC	0.701																																						uc002xwa.3																			0				ovary(1)|central_nervous_system(1)	2						c.(973-975)CGT>CAT		potassium voltage-gated channel, subfamily G,							9.0	11.0	10.0					20																	49621144		2178	4240	6418	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49621144C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.974G>A	20.37:g.49621144C>T	ENSP00000360626:p.Arg325His						p.R325H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			3	1269	-			325					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.974G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745685	0.30955	.	.	ENSG00000026559	ENST00000371571	D	0.98455	-4.94	5.0	3.94	0.45596	Ion transport (1);	0.476872	0.23828	N	0.044164	D	0.91496	0.7315	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	D	0.85005	0.0902	9	.	.	.	.	2.4658	0.04553	0.0:0.4087:0.2949:0.2964	.	325	Q9UIX4	KCNG1_HUMAN	H	325	ENSP00000360626:R325H	.	R	-	2	0	KCNG1	49054551	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	1.807000	0.38902	2.326000	0.78906	0.306000	0.20318	CGT		0.701	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
SCARF2	91179	broad.mit.edu	37	22	20784714	20784714	+	Splice_Site	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:20784714A>C	ENST00000266214.5	-	6	1307		c.e6+1		SCARF2_ENST00000405555.3_Splice_Site	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGGCACTCACTGGGGCCCG	0.711																																						uc002zsj.1																			0				breast(1)	1						c.e6+1		scavenger receptor class F, member 2 isoform 1							6.0	7.0	6.0					22																	20784714		2135	4202	6337	SO:0001630	splice_region_variant	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20784714A>C	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1202+1T>G	22.37:g.20784714A>C						SCARF2_uc002zsk.1_Splice_Site_p.H401_splice	p.H401_splice	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1307	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)						E5RFB8|Q58A83|Q8IXF3|Q9BW74	Splice_Site	SNP	ENST00000266214.5	37	c.1202_splice	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.651381	0.67472	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9542	0.52973	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCARF2	19114714	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.044000	0.89434	1.774000	0.52232	0.459000	0.35465	.		0.711	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		Intron
CACNA1I	8911	broad.mit.edu	37	22	40078576	40078576	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:40078576G>A	ENST00000402142.3	+	35	5740	c.5740G>A	c.(5740-5742)Gtc>Atc	p.V1914I	CACNA1I_ENST00000401624.1_Missense_Mutation_p.V1914I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.V1920I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V1879I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V1879I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1879I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1914					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCTACGGCCGTCTCGCCGGA	0.592																																						uc003ayc.2																			0				breast(1)|central_nervous_system(1)	2						c.(5740-5742)GTC>ATC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						82.0	88.0	86.0					22																	40078576		2030	4174	6204	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40078576G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5740G>A	22.37:g.40078576G>A	ENSP00000385019:p.Val1914Ile					CACNA1I_uc003ayd.2_Missense_Mutation_p.V1879I|CACNA1I_uc003aye.2_Missense_Mutation_p.V1829I|CACNA1I_uc003ayf.2_Missense_Mutation_p.V1794I	p.V1914I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			35	5740	+	Melanoma(58;0.0749)		1914			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5740G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	3.946	-0.013226	0.07727	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96745	-4.09;-4.05;-4.08;-4.04;-4.11;-4.02	4.94	0.385	0.16249	.	4.283210	0.00649	N	0.000551	D	0.93713	0.7991	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.15141	0.012;0.012;0.003;0.002	B;B;B;B	0.08055	0.003;0.003;0.002;0.001	T	0.82285	-0.0533	10	0.21540	T	0.41	.	10.1594	0.42842	0.2793:0.0:0.7207:0.0	.	1879;1914;1879;1914	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1914;1879;1914;1879;1920;1879	ENSP00000385019:V1914I;ENSP00000384093:V1879I;ENSP00000383887:V1914I;ENSP00000385680:V1879I;ENSP00000337829:V1920I;ENSP00000383028:V1879I	ENSP00000337829:V1920I	V	+	1	0	CACNA1I	38408522	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.079000	0.14782	0.159000	0.19401	-1.655000	0.00754	GTC		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
DLEC1	9940	broad.mit.edu	37	3	38104257	38104257	+	Silent	SNP	G	G	A	rs181613667	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:38104257G>A	ENST00000308059.6	+	5	1080	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	DLEC1_ENST00000452631.2_Silent_p.P353P|DLEC1_ENST00000346219.3_Silent_p.P353P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCCAGCACCGATAGGAGAAT	0.463													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		19943	0.001		0.0	False		,,,				2504	0.0					uc003cho.1																			0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1057-1059)CCG>CCA		deleted in lung and esophageal cancer 1 isoform		G	,	7,3693		0,7,1843	70.0	68.0	69.0		1059,1059	0.6	0.0	3		69	0,8188		0,0,4094	no	coding-synonymous,coding-synonymous	DLEC1	NM_007335.2,NM_007337.2	,	0,7,5937	AA,AG,GG		0.0,0.1892,0.0589	,	353/1756,353/1779	38104257	7,11881	1850	4094	5944	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38104257G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1059G>A	3.37:g.38104257G>A						DLEC1_uc003chp.1_Silent_p.P353P|DLEC1_uc010hgv.1_Silent_p.P353P|DLEC1_uc010hgw.1_Silent_p.P52P|DLEC1_uc003chq.1_RNA	p.P353P	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	5	1080	+			353						Silent	SNP	ENST00000308059.6	37	c.1059G>A	CCDS2672.2																																																																																				0.463	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
ULK4	54986	broad.mit.edu	37	3	41953077	41953077	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:41953077T>G	ENST00000301831.4	-	10	1433	c.971A>C	c.(970-972)aAa>aCa	p.K324T	ULK4_ENST00000420927.1_Missense_Mutation_p.K324T	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	324					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTGTGCCCTTTTGCTTGTCT	0.413																																						uc003ckv.3																			0					0						c.(970-972)AAA>ACA		unc-51-like kinase 4							143.0	134.0	137.0					3																	41953077		1879	4105	5984	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41953077T>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.971A>C	3.37:g.41953077T>G	ENSP00000301831:p.Lys324Thr					ULK4_uc003ckw.2_Missense_Mutation_p.K324T|ULK4_uc003ckx.1_Missense_Mutation_p.K324T	p.K324T	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	10	1172	-			324					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.971A>C	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	6.203	0.405575	0.11754	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.67698	0.55;-0.28	5.08	-0.204	0.13200	.	1.559330	0.03182	N	0.172260	T	0.53642	0.1809	L	0.45137	1.4	0.09310	N	1	B;B	0.22276	0.067;0.03	B;B	0.20577	0.03;0.007	T	0.14392	-1.0474	10	0.26408	T	0.33	.	1.032	0.01540	0.1325:0.2033:0.2644:0.3997	.	324;324	B4E2M4;Q96C45	.;ULK4_HUMAN	T	324	ENSP00000301831:K324T;ENSP00000412187:K324T	ENSP00000301831:K324T	K	-	2	0	ULK4	41928081	0.000000	0.05858	0.038000	0.18304	0.129000	0.20672	0.061000	0.14366	-0.017000	0.14103	0.454000	0.30748	AAA		0.413	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
LRBA	987	broad.mit.edu	37	4	151788860	151788860	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr4:151788860C>T	ENST00000357115.3	-	22	2972	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	LRBA_ENST00000535741.1_Missense_Mutation_p.R910H|LRBA_ENST00000507224.1_Missense_Mutation_p.R910H|LRBA_ENST00000510413.1_Missense_Mutation_p.R910H	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	910						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TACCCATACACGCCAGCCACC	0.343																																						uc010ipj.2																			0				ovary(3)|breast(3)|skin(1)	7						c.(2728-2730)CGT>CAT		LPS-responsive vesicle trafficking, beach and							94.0	95.0	94.0					4																	151788860		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151788860C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2729G>A	4.37:g.151788860C>T	ENSP00000349629:p.Arg910His					LRBA_uc003ilu.3_Missense_Mutation_p.R910H	p.R910H	NM_006726	NP_006717	P50851	LRBA_HUMAN			22	3203	-	all_hematologic(180;0.151)		910					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2729G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537612	0.96460	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81187	0.4770	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.81775	-0.0778	10	0.66056	D	0.02	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	910;910	P50851;P50851-2	LRBA_HUMAN;.	H	910	ENSP00000446299:R910H;ENSP00000421552:R910H;ENSP00000349629:R910H;ENSP00000422180:R910H	ENSP00000349629:R910H	R	-	2	0	LRBA	152008310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	CGT		0.343	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
DIMT1	27292	broad.mit.edu	37	5	61686705	61686705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:61686705delG	ENST00000199320.4	-	11	1057	c.897delC	c.(895-897)atcfs	p.I299fs	KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	299				Missing (in Ref. 2; AAH02841). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GTAATTACCTGATGAAGTCAT	0.383																																						uc003jta.2																			0				central_nervous_system(1)	1						c.(895-897)ATCfs		dimethyladenosine transferase							169.0	165.0	166.0					5																	61686705		2203	4300	6503	SO:0001589	frameshift_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61686705delG	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.897delC	5.37:g.61686705delG	ENSP00000199320:p.Ile299fs						p.I299fs	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN		Lung(70;0.122)	11	1026	-		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)	299	Missing (in Ref. 2; AAH02841).				O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	c.897delC	CCDS3981.1																																																																																				0.383	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473	
PCDHGB3	56102	broad.mit.edu	37	5	140752102	140752102	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:140752102G>A	ENST00000576222.1	+	1	2272	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	714					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTCCCTGCGCCTGCGATGC	0.582																																						uc003ljw.1																			0					0						c.(2140-2142)CGC>CAC		protocadherin gamma subfamily B, 3 isoform 1							69.0	76.0	74.0					5																	140752102		2069	4217	6286	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140752102G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2141G>A	5.37:g.140752102G>A	ENSP00000461862:p.Arg714His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R714H|PCDHGA6_uc011dau.1_5'Flank	p.R714H	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2141	+			714			Cytoplasmic (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2141G>A	CCDS58980.1																																																																																				0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
FLT4	2324	broad.mit.edu	37	5	180048197	180048197	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:180048197G>A	ENST00000261937.6	-	14	2154	c.2076C>T	c.(2074-2076)agC>agT	p.S692S	FLT4_ENST00000502649.1_Silent_p.S692S|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.S692S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	692	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGCGAGTCGCTCACGTTCA	0.632																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(2074-2076)AGC>AGT		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						32.0	34.0	34.0					5																	180048197		2203	4298	6501	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048197G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2076C>T	5.37:g.180048197G>A						FLT4_uc003mlz.3_Silent_p.S692S|FLT4_uc003mmb.1_Silent_p.S225S|FLT4_uc011dgy.1_Silent_p.S692S	p.S692S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	14	2155	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	692			Ig-like C2-type 7.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2076C>T	CCDS4457.1																																																																																				0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
GRM4	2914	broad.mit.edu	37	6	34004373	34004373	+	Missense_Mutation	SNP	C	C	T	rs561013910		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:34004373C>T	ENST00000538487.2	-	9	1957	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	GRM4_ENST00000535756.1_Missense_Mutation_p.R372Q|GRM4_ENST00000544773.2_Missense_Mutation_p.R336Q|GRM4_ENST00000374181.4_Missense_Mutation_p.R505Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R365Q|GRM4_ENST00000374177.3_Missense_Mutation_p.R389Q|GRM4_ENST00000609222.1_Missense_Mutation_p.R372Q|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	505					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCAGTGCATCCGCTCTATCTG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					uc003oir.3																			0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1513-1515)CGG>CAG		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						24.0	24.0	24.0					6																	34004373		2063	4054	6117	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004373C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1514G>A	6.37:g.34004373C>T	ENSP00000440556:p.Arg505Gln					GRM4_uc011dsn.1_Missense_Mutation_p.R458Q|GRM4_uc010jvh.2_Missense_Mutation_p.R505Q|GRM4_uc010jvi.2_Missense_Mutation_p.R197Q|GRM4_uc003oio.2_Missense_Mutation_p.R197Q|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R365Q|GRM4_uc003oiq.2_Missense_Mutation_p.R372Q|GRM4_uc011dsm.1_Missense_Mutation_p.R336Q	p.R505Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN			8	1684	-			505			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1514G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069467	0.20147	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	4.99	4.02	0.46733	.	0.270105	0.37577	N	0.002027	T	0.55162	0.1903	L	0.29908	0.895	0.27289	N	0.957894	B;B;B;B;B	0.13594	0.0;0.0;0.008;0.0;0.003	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.0;0.001	T	0.38564	-0.9655	10	0.13470	T	0.59	.	8.2102	0.31479	0.0:0.7347:0.0:0.2653	.	458;336;365;505;372	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	Q	505;389;197;372;336;505;365	ENSP00000363296:R505Q;ENSP00000363292:R389Q;ENSP00000445533:R197Q;ENSP00000437925:R372Q;ENSP00000437730:R336Q;ENSP00000440556:R505Q;ENSP00000398456:R365Q	ENSP00000363292:R389Q	R	-	2	0	GRM4	34112351	0.880000	0.30214	1.000000	0.80357	0.973000	0.67179	-0.027000	0.12371	1.164000	0.42652	0.551000	0.68910	CGG		0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
DNAH8	1769	broad.mit.edu	37	6	38957817	38957817	+	Silent	SNP	G	G	A	rs143472136	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:38957817G>A	ENST00000359357.3	+	86	12686	c.12432G>A	c.(12430-12432)ccG>ccA	p.P4144P	DNAH8_ENST00000441566.1_Silent_p.P4108P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4144					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						TGTTTGAACCGTCATTCTGCT	0.368																																						uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12430-12432)CCG>CCA		dynein, axonemal, heavy polypeptide 8		G		2,4404	4.2+/-10.8	0,2,2201	155.0	146.0	149.0		13083	-5.6	0.4	6	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH8	NM_001206927.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4361/4708	38957817	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38957817G>A	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.12432G>A	6.37:g.38957817G>A							p.P4144P	NM_001371	NP_001362					86	13032	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12432G>A																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
OPN5	221391	broad.mit.edu	37	6	47763200	47763200	+	Silent	SNP	C	C	T	rs375529102		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:47763200C>T	ENST00000371211.2	+	4	685	c.657C>T	c.(655-657)taC>taT	p.Y219Y	OPN5_ENST00000393699.2_Silent_p.Y219Y|OPN5_ENST00000489301.2_Silent_p.Y219Y|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	219					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTTCTCCTACGTAAAGATCA	0.512																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2																			0				ovary(1)	1						c.(655-657)TAC>TAT		opsin 5 isoform 1		C		0,4406		0,0,2203	119.0	105.0	109.0		657	-8.4	0.8	6		109	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OPN5	NM_181744.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		219/355	47763200	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47763200C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.657C>T	6.37:g.47763200C>T						OPN5_uc003ozd.2_Silent_p.Y54Y	p.Y219Y	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			4	662	+			219			Cytoplasmic (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	37	c.657C>T	CCDS4923.1																																																																																				0.512	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744	
PKHD1	5314	broad.mit.edu	37	6	51889738	51889738	+	Missense_Mutation	SNP	G	G	A	rs200391019		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:51889738G>A	ENST00000371117.3	-	32	5145	c.4870C>T	c.(4870-4872)Cgg>Tgg	p.R1624W	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1624W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1624	IPT/TIG 11.		R -> W (in ARPKD). {ECO:0000269|PubMed:11898128, ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:16959974}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R1624W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAATGCACCGGATGAGCTCA	0.507																																						uc003pah.1																			1	Substitution - Missense(1)	p.R1624W(1)	large_intestine(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	GRCh37	CM020959	PKHD1	M		c.(4870-4872)CGG>TGG		fibrocystin isoform 1		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	159.0	147.0	151.0		4870,4870	4.4	0.1	6		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1624/4075,1624/3397	51889738	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889738G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4870C>T	6.37:g.51889738G>A	ENSP00000360158:p.Arg1624Trp					PKHD1_uc003pai.2_Missense_Mutation_p.R1624W	p.R1624W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	5146	-	Lung NSC(77;0.0605)		1624		R -> W (in ARPKD).	Extracellular (Potential).|IPT/TIG 11.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4870C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014766	0.54468	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77620	-1.11;-1.11	5.3	4.43	0.53597	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.722191	0.13307	N	0.397776	T	0.59851	0.2224	N	0.14661	0.345	0.26605	N	0.972952	P;D	0.63046	0.829;0.992	P;P	0.53549	0.663;0.729	T	0.56854	-0.7910	10	0.38643	T	0.18	.	12.8124	0.57647	0.079:0.0:0.921:0.0	.	1624;1624	P08F94-2;P08F94	.;PKHD1_HUMAN	W	1624	ENSP00000360158:R1624W;ENSP00000341097:R1624W	ENSP00000341097:R1624W	R	-	1	2	PKHD1	51997697	1.000000	0.71417	0.085000	0.20634	0.480000	0.33159	4.725000	0.61979	1.231000	0.43661	0.650000	0.86243	CGG		0.507	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
OOEP	441161	broad.mit.edu	37	6	74079390	74079390	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:74079390C>T	ENST00000370359.5	-	1	125	c.126G>A	c.(124-126)ccG>ccA	p.P42P	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	42					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTCCTGCACCGGAAACCACC	0.622																																						uc003pgu.3																			0					0						c.(124-126)CCG>CCA		oocyte expressed protein homolog							78.0	85.0	83.0					6																	74079390		2061	4223	6284	SO:0001819	synonymous_variant	441161					cytoplasm		g.chr6:74079390C>T	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.126G>A	6.37:g.74079390C>T						OOEP_uc003pgv.3_Intron	p.P42P	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			1	126	-			42					A6NIN5|A9UIB7	Silent	SNP	ENST00000370359.5	37	c.126G>A	CCDS47451.1																																																																																				0.622	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507	
FILIP1	27145	broad.mit.edu	37	6	76024625	76024625	+	Nonsense_Mutation	SNP	G	G	T	rs371050880		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:76024625G>T	ENST00000237172.7	-	5	1253	c.923C>A	c.(922-924)tCg>tAg	p.S308*	FILIP1_ENST00000393004.2_Nonsense_Mutation_p.S308*|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.S209*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGAAAACCTCGAAGCCTTGTG	0.423																																						uc003pia.2																			0				skin(3)|ovary(1)	4						c.(922-924)TCG>TAG		filamin A interacting protein 1							149.0	136.0	141.0					6																	76024625		2203	4300	6503	SO:0001587	stop_gained	27145							g.chr6:76024625G>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.923C>A	6.37:g.76024625G>T	ENSP00000237172:p.Ser308*					FILIP1_uc003phy.1_Nonsense_Mutation_p.S308*|FILIP1_uc003phz.2_Nonsense_Mutation_p.S209*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.S311*|FILIP1_uc003pib.1_Nonsense_Mutation_p.S60*	p.S308*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	1296	-			308			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	ENST00000237172.7	37	c.923C>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	37	6.320088	0.97471	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.71	5.71	0.89125	.	0.064305	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6148	20.2245	0.98337	0.0:0.0:1.0:0.0	.	.	.	.	X	308;308;209	.	ENSP00000237172:S308X	S	-	2	0	FILIP1	76081345	0.909000	0.30893	0.965000	0.40720	0.695000	0.40330	2.590000	0.46154	2.861000	0.98227	0.650000	0.86243	TCG		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
SEC63	11231	broad.mit.edu	37	6	108225906	108225906	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:108225906T>G	ENST00000369002.4	-	11	1160	c.981A>C	c.(979-981)aaA>aaC	p.K327N		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	327	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGACACTTTTTTAGCATGA	0.348																																						uc003psc.3																			0				ovary(1)|skin(1)	2						c.(979-981)AAA>AAC		SEC63-like protein							125.0	128.0	127.0					6																	108225906		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108225906T>G	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.981A>C	6.37:g.108225906T>G	ENSP00000357998:p.Lys327Asn					SEC63_uc003psb.3_Missense_Mutation_p.K187N	p.K327N	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	11	1250	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	327			SEC63 1.|Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.981A>C	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299858	0.60195	.	.	ENSG00000025796	ENST00000369002;ENST00000423697	T	0.60920	0.15	5.41	5.41	0.78517	Sec63 domain (3);	0.042071	0.85682	D	0.000000	T	0.60715	0.2290	M	0.69823	2.125	0.58432	D	0.999996	P;P	0.52577	0.924;0.954	P;P	0.60886	0.88;0.812	T	0.65331	-0.6194	10	0.45353	T	0.12	-21.2434	8.7777	0.34771	0.0:0.1477:0.0:0.8523	.	327;327	Q9UGP8;B3KQF0	SEC63_HUMAN;.	N	327;187	ENSP00000357998:K327N	ENSP00000357998:K327N	K	-	3	2	SEC63	108332599	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	2.384000	0.44362	2.048000	0.60808	0.477000	0.44152	AAA		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
GPR126	57211	broad.mit.edu	37	6	142736937	142736937	+	Silent	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:142736937T>C	ENST00000230173.6	+	20	3150	c.2674T>C	c.(2674-2676)Ttg>Ctg	p.L892L	GPR126_ENST00000367608.2_Silent_p.L864L|GPR126_ENST00000296932.8_Silent_p.L864L|GPR126_ENST00000367609.3_Silent_p.L892L	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	892					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTTTAGGAAATTGCGAAGGGA	0.403																																						uc010khc.2																			0				ovary(1)	1						c.(2674-2676)TTG>CTG		G protein-coupled receptor 126 alpha 1							69.0	65.0	66.0					6																	142736937		1831	4102	5933	SO:0001819	synonymous_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736937T>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2674T>C	6.37:g.142736937T>C						GPR126_uc010khd.2_Silent_p.L864L|GPR126_uc010khe.2_Silent_p.L892L|GPR126_uc010khf.2_Silent_p.L864L	p.L892L	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3085	+	Breast(32;0.176)		892			Cytoplasmic (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	c.2674T>C	CCDS47490.1																																																																																				0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
RUNDC3B	154661	broad.mit.edu	37	7	87258211	87258211	+	Silent	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:87258211G>C	ENST00000338056.3	+	1	483	c.72G>C	c.(70-72)ctG>ctC	p.L24L	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Silent_p.L24L|RUNDC3B_ENST00000493037.1_Silent_p.L24L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	24										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGAAAAGCCTGAGCGCCCGCA	0.716																																						uc003ujb.2																			0				skin(1)	1						c.(70-72)CTG>CTC		RUN domain containing 3B isoform a							17.0	19.0	18.0					7																	87258211		2184	4283	6467	SO:0001819	synonymous_variant	154661							g.chr7:87258211G>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.72G>C	7.37:g.87258211G>C						ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Silent_p.L24L|RUNDC3B_uc011khe.1_Silent_p.L24L|RUNDC3B_uc003ujc.2_Silent_p.L24L	p.L24L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			1	483	+	Esophageal squamous(14;0.00164)		24					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	ENST00000338056.3	37	c.72G>C	CCDS5609.1																																																																																				0.716	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
RELN	5649	broad.mit.edu	37	7	103338350	103338350	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:103338350C>T	ENST00000428762.1	-	10	1252	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	RELN_ENST00000424685.2_Missense_Mutation_p.D365N|RELN_ENST00000343529.5_Missense_Mutation_p.D365N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	365					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCACTGGGTCGAGACTATCT	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1093-1095)GAC>AAC		reelin isoform a							134.0	124.0	128.0					7																	103338350		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338350C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1093G>A	7.37:g.103338350C>T	ENSP00000392423:p.Asp365Asn					RELN_uc010liz.2_Missense_Mutation_p.D365N	p.D365N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1253	-			365					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1093G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	c	35	5.422205	0.96111	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41065	1.01;1.01;1.01	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.985	T	0.63985	-0.6513	10	0.72032	D	0.01	.	20.6289	0.99525	0.0:1.0:0.0:0.0	.	365;365	P78509-2;P78509	.;RELN_HUMAN	N	365	ENSP00000392423:D365N;ENSP00000345694:D365N;ENSP00000388446:D365N	ENSP00000345694:D365N	D	-	1	0	RELN	103125586	1.000000	0.71417	0.955000	0.39395	0.867000	0.49689	7.270000	0.78493	2.886000	0.99085	0.645000	0.84053	GAC		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
CHCHD3	54927	broad.mit.edu	37	7	132754903	132754903	+	Splice_Site	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:132754903T>C	ENST00000262570.5	-	2	312	c.168A>G	c.(166-168)tcA>tcG	p.S56S	CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000448878.1_Splice_Site_p.S56S|CHCHD3_ENST00000542753.1_Splice_Site_p.S56S	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	56					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CAGCAATACCTGAGGCACCAT	0.378																																						uc003vre.2																			0					0						c.(166-168)TCA>TCG		coiled-coil-helix-coiled-coil-helix domain							67.0	58.0	61.0					7																	132754903		2203	4300	6503	SO:0001630	splice_region_variant	54927				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	g.chr7:132754903T>C	BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.169+1A>G	7.37:g.132754903T>C						CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Silent_p.S56S|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Silent_p.S56S	p.S56S	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN			2	304	-			56						Silent	SNP	ENST00000262570.5	37	c.168A>G	CCDS5828.1																																																																																				0.378	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1	NM_017812	Silent
KEL	3792	broad.mit.edu	37	7	142655026	142655026	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:142655026G>T	ENST00000355265.2	-	6	1034	c.560C>A	c.(559-561)tCc>tAc	p.S187Y	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	187					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGTTTAAGGAAGTCCATTT	0.517																																						uc003wcb.2																			0				ovary(3)|central_nervous_system(1)	4						c.(559-561)TCC>TAC		Kell blood group, metallo-endopeptidase							94.0	80.0	85.0					7																	142655026		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655026G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.560C>A	7.37:g.142655026G>T	ENSP00000347409:p.Ser187Tyr						p.S187Y	NM_000420	NP_000411	P23276	KELL_HUMAN			6	770	-	Melanoma(164;0.059)		187			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.560C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891968	0.33442	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.74315	-0.83;-0.83	5.8	2.97	0.34412	Peptidase M13 (1);	0.645923	0.14459	N	0.318328	T	0.69278	0.3093	L	0.54323	1.7	0.09310	N	1	P	0.41673	0.759	B	0.41374	0.355	T	0.61212	-0.7108	10	0.72032	D	0.01	-10.0984	8.746	0.34587	0.2438:0.0:0.7562:0.0	.	187	P23276	KELL_HUMAN	Y	187;168	ENSP00000347409:S187Y;ENSP00000420011:S168Y	ENSP00000347409:S187Y	S	-	2	0	KEL	142365148	0.000000	0.05858	0.133000	0.22050	0.928000	0.56348	0.173000	0.16724	0.768000	0.33290	0.650000	0.86243	TCC		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
CLCN1	1180	broad.mit.edu	37	7	143036401	143036401	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:143036401C>G	ENST00000343257.2	+	13	1544	c.1457C>G	c.(1456-1458)cCt>cGt	p.P486R		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	486					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGCTTCATGCCTGTGTTTGTG	0.517																																						uc003wcr.1																			0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1456-1458)CCT>CGT		chloride channel 1, skeletal muscle							204.0	195.0	198.0					7																	143036401		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143036401C>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1457C>G	7.37:g.143036401C>G	ENSP00000339867:p.Pro486Arg					CLCN1_uc011ktc.1_Missense_Mutation_p.P98R	p.P486R	NM_000083	NP_000074	P35523	CLCN1_HUMAN			13	1544	+	Melanoma(164;0.205)		486			Helical; (By similarity).|Selectivity filter part_3 (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1457C>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787161	0.90367	.	.	ENSG00000188037	ENST00000343257	D	0.99591	-6.24	5.63	5.63	0.86233	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96930	0.9680	10	0.87932	D	0	.	19.6652	0.95890	0.0:1.0:0.0:0.0	.	486	P35523	CLCN1_HUMAN	R	486	ENSP00000339867:P486R	ENSP00000339867:P486R	P	+	2	0	CLCN1	142746523	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.807000	0.86032	2.641000	0.89580	0.643000	0.83706	CCT		0.517	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
ARHGEF10	9639	broad.mit.edu	37	8	1806268	1806268	+	Silent	SNP	C	C	A	rs111294316	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:1806268C>A	ENST00000398564.1	+	3	252	c.252C>A	c.(250-252)gcC>gcA	p.A84A	ARHGEF10_ENST00000262112.6_Silent_p.A84A|ARHGEF10_ENST00000398560.1_Silent_p.A84A|ARHGEF10_ENST00000518288.1_Silent_p.A84A|ARHGEF10_ENST00000520359.1_Silent_p.A60A|ARHGEF10_ENST00000349830.3_Silent_p.A60A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	84					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGTGAAGCCCCTGCACCCA	0.617																																						uc003wpr.2																			0				large_intestine(1)	1						c.(178-180)GCC>GCA		Rho guanine nucleotide exchange factor 10							33.0	34.0	33.0					8																	1806268		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1806268C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.252C>A	8.37:g.1806268C>A						ARHGEF10_uc003wpq.1_Silent_p.A84A|ARHGEF10_uc003wps.2_Silent_p.A60A|ARHGEF10_uc003wpt.2_5'Flank|ARHGEF10_uc010lrd.1_5'Flank|ARHGEF10_uc003wpu.2_5'Flank	p.A60A	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	3	358	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	84					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.180C>A																																																																																					0.617	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
TRIM55	84675	broad.mit.edu	37	8	67062093	67062093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:67062093G>T	ENST00000315962.4	+	5	1190	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E273*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E273*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	273	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGATGAGCCAGAAATGGCAGT	0.378																																						uc003xvv.2																			0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(817-819)GAA>TAA		tripartite motif-containing 55 isoform 1							102.0	102.0	102.0					8																	67062093		2203	4300	6503	SO:0001587	stop_gained	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67062093G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.817G>T	8.37:g.67062093G>T	ENSP00000323913:p.Glu273*					TRIM55_uc003xvu.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvw.2_Nonsense_Mutation_p.E273*|TRIM55_uc003xvx.2_Intron	p.E273*	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		5	1043	+		Lung NSC(129;0.138)|all_lung(136;0.221)	273			COS.		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	ENST00000315962.4	37	c.817G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	38	6.938519	0.97948	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.5359	0.95254	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	ENSP00000276573:E273X	E	+	1	0	TRIM55	67224647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.844000	0.86867	2.615000	0.88500	0.650000	0.86243	GAA		0.378	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
DENND4C	55667	broad.mit.edu	37	9	19346294	19346294	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:19346294C>T	ENST00000380432.2	+	18	2705	c.2672C>T	c.(2671-2673)cCg>cTg	p.P891L	DENND4C_ENST00000602925.1_Missense_Mutation_p.P1127L|DENND4C_ENST00000434457.2_Missense_Mutation_p.P1176L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	891					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGATCATCTCCGGTGCCAGAG	0.443																																						uc003znq.2																			0				ovary(1)|skin(1)	2						c.(2671-2673)CCG>CTG		DENN/MADD domain containing 4C							120.0	114.0	116.0					9																	19346294		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346294C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2672C>T	9.37:g.19346294C>T	ENSP00000369797:p.Pro891Leu					DENND4C_uc011lnc.1_Missense_Mutation_p.P221L|DENND4C_uc011lnd.1_Missense_Mutation_p.P179L|DENND4C_uc003znr.2_Missense_Mutation_p.P179L|DENND4C_uc003zns.2_Missense_Mutation_p.P73L|DENND4C_uc003znt.2_Missense_Mutation_p.P73L	p.P891L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			18	2705	+			891					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.2672C>T		.	.	.	.	.	.	.	.	.	.	C	4.381	0.070265	0.08436	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.25414	1.8;1.82	5.81	4.0	0.46444	.	1.215040	0.05470	N	0.552968	T	0.32704	0.0838	L	0.40543	1.245	0.09310	N	1	P;B;D;B	0.55800	0.573;0.007;0.973;0.001	B;B;P;B	0.48488	0.095;0.003;0.579;0.0	T	0.28364	-1.0046	10	0.66056	D	0.02	2.082	10.9372	0.47251	0.0:0.8559:0.0:0.1441	.	221;891;73;891	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	L	891;364;73;221;364;73	ENSP00000305795:P364L;ENSP00000443804:P221L	ENSP00000305795:P364L	P	+	2	0	DENND4C	19336294	0.005000	0.15991	0.001000	0.08648	0.007000	0.05969	2.080000	0.41586	0.817000	0.34445	-0.142000	0.14014	CCG		0.443	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
PGM5	5239	broad.mit.edu	37	9	71080089	71080089	+	Missense_Mutation	SNP	G	G	A	rs141668530		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:71080089G>A	ENST00000396396.1	+	7	1353	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	PGM5_ENST00000396392.1_Missense_Mutation_p.R375H	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	375					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GACTCAGGACGTTGCAATCTG	0.473																																						uc004agr.2																			0				ovary(1)|pancreas(1)	2						c.(1123-1125)CGT>CAT		phosphoglucomutase 5		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	212.0	193.0	200.0		1124	5.9	1.0	9	dbSNP_134	200	0,8600		0,0,4300	no	missense	PGM5	NM_021965.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	375/568	71080089	1,13005	2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71080089G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1124G>A	9.37:g.71080089G>A	ENSP00000379678:p.Arg375His						p.R375H	NM_021965	NP_068800	Q15124	PGM5_HUMAN			7	1353	+			375					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1124G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193875	0.78902	2.27E-4	0.0	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.43688	0.94;0.94	5.87	5.87	0.94306	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.78753	-0.2081	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	375	Q15124	PGM5_HUMAN	H	375	ENSP00000379678:R375H;ENSP00000379674:R375H	ENSP00000379674:R375H	R	+	2	0	PGM5	70269909	0.673000	0.27539	1.000000	0.80357	0.596000	0.36781	3.277000	0.51654	2.941000	0.99782	0.655000	0.94253	CGT		0.473	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965	
APBA1	320	broad.mit.edu	37	9	72130983	72130983	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:72130983G>A	ENST00000265381.4	-	2	1366	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	382	LIN-2/CASK binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGTCCTGGCGCATGACCCAG	0.622																																						uc004ahh.2																			0				lung(1)	1						c.(1144-1146)CGC>TGC		amyloid beta A4 precursor protein-binding,							139.0	115.0	123.0					9																	72130983		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72130983G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1144C>T	9.37:g.72130983G>A	ENSP00000265381:p.Arg382Cys						p.R382C	NM_001163	NP_001154	Q02410	APBA1_HUMAN			2	1420	-			382			LIN-2/CASK binding.|Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1144C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437468	0.62955	.	.	ENSG00000107282	ENST00000265381	T	0.07216	3.21	5.95	5.95	0.96441	.	0.053257	0.64402	D	0.000001	T	0.19248	0.0462	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00175	-1.1955	10	0.56958	D	0.05	-14.9849	13.7627	0.62977	0.0:0.0:0.7318:0.2682	.	382	Q02410	APBA1_HUMAN	C	382	ENSP00000265381:R382C	ENSP00000265381:R382C	R	-	1	0	APBA1	71320803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.312000	0.51927	2.824000	0.97209	0.655000	0.94253	CGC		0.622	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
GOLGA2	2801	broad.mit.edu	37	9	131020819	131020821	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:131020819_131020821delTCC	ENST00000421699.2	-	21	2133_2135	c.2121_2123delGGA	c.(2119-2124)gaggat>gat	p.E707del	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_In_Frame_Del_p.E695del	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	707	Poly-Glu.				mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ctcctcctcatcctcctcctcct	0.65																																						uc011maw.1																			0				ovary(1)	1						c.(2119-2124)GAGGAT>GAT		Golgi autoantigen, golgin subfamily a, 2																																				SO:0001651	inframe_deletion	2801					Golgi cisterna membrane	protein binding	g.chr9:131020819_131020821delTCC	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2121_2123delGGA	9.37:g.131020828_131020830delTCC	ENSP00000416097:p.Glu707del					GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_In_Frame_Del_p.E180del	p.E707del	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			21	2134_2136	-			707			Potential.|Poly-Glu.		Q6GRM9|Q9BRB0|Q9NYF9	In_Frame_Del	DEL	ENST00000421699.2	37	c.2121_2123delGGA	CCDS6896.2																																																																																				0.650	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486	
SOHLH1	402381	broad.mit.edu	37	9	138586907	138586907	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:138586907C>T	ENST00000298466.5	-	6	924	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_ENST00000425225.1_Silent_p.A288A	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	288					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A288A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697																																						uc004cgl.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(862-864)GCG>GCA		spermatogenesis and oogenesis specific basic							10.0	10.0	10.0					9																	138586907		2135	4214	6349	SO:0001819	synonymous_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586907C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.864G>A	9.37:g.138586907C>T						SOHLH1_uc010nbe.2_Silent_p.A288A	p.A288A	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	6	925	-		Myeloproliferative disorder(178;0.0511)	288					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	c.864G>A	CCDS35174.1																																																																																				0.697	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415	
