#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
TTC22	55001	broad.mit.edu	37	1	55266546	55266546	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:55266546C>T	ENST00000371276.4	-	1	394	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TTC22_ENST00000371274.4_Silent_p.P97P	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	97										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TGAGGTTGCCCGGGTGCTCGT	0.687																																						uc009vzt.1																			0					0						c.(289-291)CCG>CCA		tetratricopeptide repeat domain 22 isoform 1							12.0	14.0	14.0					1																	55266546		2190	4289	6479	SO:0001819	synonymous_variant	55001						binding	g.chr1:55266546C>T	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.291G>A	1.37:g.55266546C>T						TTC22_uc001cxz.3_Silent_p.P97P	p.P97P	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN			1	396	-			97			TPR 1.		Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.291G>A	CCDS44152.1																																																																																				0.687	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904	
SPAG17	200162	broad.mit.edu	37	1	118624163	118624163	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:118624163C>G	ENST00000336338.5	-	14	1930	c.1865G>C	c.(1864-1866)gGg>gCg	p.G622A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	622						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACACATCATCCCAGAAGGTTT	0.428																																						uc001ehk.2																			0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1864-1866)GGG>GCG		sperm associated antigen 17							169.0	157.0	161.0					1																	118624163		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118624163C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1865G>C	1.37:g.118624163C>G	ENSP00000337804:p.Gly622Ala						p.G622A	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	1933	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	622					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1865G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355291	0.41700	.	.	ENSG00000155761	ENST00000336338	T	0.17370	2.28	5.12	-1.6	0.08426	.	1.051620	0.07338	N	0.880235	T	0.04137	0.0115	L	0.38175	1.15	0.09310	N	1	P	0.38504	0.634	B	0.31101	0.124	T	0.36866	-0.9730	10	0.37606	T	0.19	.	10.7328	0.46107	0.0:0.4432:0.0:0.5568	.	622	Q6Q759	SPG17_HUMAN	A	622	ENSP00000337804:G622A	ENSP00000337804:G622A	G	-	2	0	SPAG17	118425686	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	0.124000	0.15728	-0.234000	0.09782	0.591000	0.81541	GGG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
ADAM30	11085	broad.mit.edu	37	1	120438344	120438344	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:120438344C>G	ENST00000369400.1	-	1	774	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	206	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGATCAATTCCAAGTACTTT	0.403																																						uc001eij.2																			0				ovary(2)|lung(1)	3						c.(616-618)GAA>CAA		ADAM metallopeptidase domain 30 preproprotein							103.0	104.0	103.0					1																	120438344		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438344C>G	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.616G>C	1.37:g.120438344C>G	ENSP00000358407:p.Glu206Gln						p.E206Q	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	770	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	206			Peptidase M12B.|Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.616G>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304120	0.60305	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.14766	2.48	4.67	4.67	0.58626	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.47455	D	0.000229	T	0.36853	0.0982	H	0.94183	3.505	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.41610	-0.9499	10	0.72032	D	0.01	.	12.9587	0.58444	0.0:1.0:0.0:0.0	.	206	Q9UKF2	ADA30_HUMAN	Q	206	ENSP00000358407:E206Q	ENSP00000358407:E206Q	E	-	1	0	ADAM30	120239867	0.024000	0.19004	0.089000	0.20774	0.015000	0.08874	0.509000	0.22707	2.418000	0.82041	0.563000	0.77884	GAA		0.403	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
GPR52	9293	broad.mit.edu	37	1	174417320	174417320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:174417320G>A	ENST00000367685.2	+	1	109	c.71G>A	c.(70-72)cGt>cAt	p.R24H	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	24					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R24H(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTGTCCGAGCGTCACTCCTGC	0.483																																					Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1																			1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(70-72)CGT>CAT		G protein-coupled receptor 52							216.0	177.0	190.0					1																	174417320		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417320G>A	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.71G>A	1.37:g.174417320G>A	ENSP00000356658:p.Arg24His					RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	p.R24H	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	109	+			24			Extracellular (Potential).		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.71G>A	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033346	0.02029	.	.	ENSG00000203737	ENST00000367685	T	0.60920	0.15	5.68	-2.31	0.06765	.	0.615902	0.14655	N	0.306327	T	0.31513	0.0799	N	0.08118	0	0.22199	N	0.999294	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	10	0.22109	T	0.4	-1.3255	11.7011	0.51571	0.7241:0.0:0.2759:0.0	.	24	Q9Y2T5	GPR52_HUMAN	H	24	ENSP00000356658:R24H	ENSP00000356658:R24H	R	+	2	0	GPR52	172683943	0.958000	0.32768	0.870000	0.34147	0.918000	0.54935	0.614000	0.24314	-0.466000	0.06943	-0.940000	0.02684	CGT		0.483	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684	
HMCN1	83872	broad.mit.edu	37	1	186056355	186056355	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:186056355G>A	ENST00000271588.4	+	59	9282	c.9053G>A	c.(9052-9054)cGa>cAa	p.R3018Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3018Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3018	Ig-like C2-type 28.				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						ACAGGTGGTCGAACTCTACAG	0.383																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(9052-9054)CGA>CAA		hemicentin 1 precursor							125.0	118.0	120.0					1																	186056355		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056355G>A	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.9053G>A	1.37:g.186056355G>A	ENSP00000271588:p.Arg3018Gln						p.R3018Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			59	9282	+			3018			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9053G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232791	0.95207	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	N	0.21448	0.665	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.61544	-0.7041	10	0.16420	T	0.52	.	19.6959	0.96026	0.0:0.0:1.0:0.0	.	3018	Q96RW7	HMCN1_HUMAN	Q	3018	ENSP00000271588:R3018Q;ENSP00000356462:R3018Q	ENSP00000271588:R3018Q	R	+	2	0	HMCN1	184322978	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.979000	0.93455	2.648000	0.89879	0.655000	0.94253	CGA		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
COG2	22796	broad.mit.edu	37	1	230807312	230807312	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:230807312G>C	ENST00000366669.4	+	8	940	c.825G>C	c.(823-825)atG>atC	p.M275I	COG2_ENST00000366668.3_Missense_Mutation_p.M275I|COG2_ENST00000535166.1_Missense_Mutation_p.M159I|COG2_ENST00000534989.1_Missense_Mutation_p.M216I	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	275					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCAGGTCATGTATAATAAAC	0.393																																						uc001htw.2																			0					0						c.(823-825)ATG>ATC		component of oligomeric golgi complex 2 isoform							127.0	132.0	130.0					1																	230807312		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230807312G>C	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.825G>C	1.37:g.230807312G>C	ENSP00000355629:p.Met275Ile					COG2_uc001htx.2_Missense_Mutation_p.M275I|COG2_uc010pwc.1_Missense_Mutation_p.M148I	p.M275I	NM_007357	NP_031383	Q14746	COG2_HUMAN			8	976	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	275					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.825G>C	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020732	0.54576	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.1	5.1	0.69264	.	0.038433	0.85682	D	0.000000	T	0.20414	0.0491	L	0.29908	0.895	0.80722	D	1	P;B	0.40360	0.714;0.131	B;B	0.30251	0.113;0.026	T	0.05649	-1.0872	10	0.14656	T	0.56	-22.1254	18.4922	0.90852	0.0:0.0:1.0:0.0	.	275;275	Q86U99;Q14746	.;COG2_HUMAN	I	275;159;275;216	ENSP00000355629:M275I;ENSP00000445724:M159I;ENSP00000355628:M275I;ENSP00000440349:M216I	ENSP00000355628:M275I	M	+	3	0	COG2	228873935	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.995000	0.88328	2.371000	0.80710	0.557000	0.71058	ATG		0.393	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	
PCNXL2	80003	broad.mit.edu	37	1	233394169	233394169	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:233394169T>C	ENST00000258229.9	-	5	1673	c.1439A>G	c.(1438-1440)aAg>aGg	p.K480R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	480						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGTGATCCTTGATGGCATT	0.542																																						uc001hvl.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(1438-1440)AAG>AGG		pecanex-like 2							65.0	67.0	67.0					1																	233394169		1987	4162	6149	SO:0001583	missense	80003					integral to membrane		g.chr1:233394169T>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1439A>G	1.37:g.233394169T>C	ENSP00000258229:p.Lys480Arg					PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	p.K480R	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			5	1674	-		all_cancers(173;0.0347)|Prostate(94;0.137)	480					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1439A>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753707	0.31046	.	.	ENSG00000135749	ENST00000258229	T	0.08720	3.06	4.48	0.875	0.19130	.	.	.	.	.	T	0.04770	0.0129	N	0.19112	0.55	0.18873	N	0.999989	B	0.06786	0.001	B	0.04013	0.001	T	0.40979	-0.9534	9	0.54805	T	0.06	.	1.9302	0.03325	0.1394:0.1235:0.1445:0.5926	.	480	A6NKB5	PCX2_HUMAN	R	480	ENSP00000258229:K480R	ENSP00000258229:K480R	K	-	2	0	PCNXL2	231460792	0.083000	0.21467	0.000000	0.03702	0.157000	0.22087	2.018000	0.40991	-0.014000	0.14175	0.533000	0.62120	AAG		0.542	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
OR56A4	120793	broad.mit.edu	37	11	6023660	6023660	+	Missense_Mutation	SNP	G	G	A	rs116778909		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:6023660G>A	ENST00000330728.4	-	1	764	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S240F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAGTTTGGACACAGACAG	0.443																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(718-720)TCC>TTC		olfactory receptor, family 56, subfamily A,							56.0	55.0	55.0					11																	6023660		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023660G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.719C>T	11.37:g.6023660G>A	ENSP00000328215:p.Ser240Phe						p.S240F	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	719	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	188			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.719C>T	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838474	0.51057	.	.	ENSG00000183389	ENST00000330728	T	0.00069	8.77	3.72	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35349	U	0.003268	T	0.00328	0.0010	L	0.61036	1.89	0.27378	N	0.955494	D	0.56968	0.978	D	0.71184	0.972	T	0.40869	-0.9540	10	0.87932	D	0	.	8.2559	0.31756	0.2062:0.0:0.7938:0.0	.	188	Q8NGH8	O56A4_HUMAN	F	240	ENSP00000328215:S240F	ENSP00000328215:S240F	S	-	2	0	OR56A4	5980236	0.055000	0.20627	0.997000	0.53966	0.994000	0.84299	2.952000	0.49097	0.850000	0.35239	0.655000	0.94253	TCC		0.443	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179	
NAT10	55226	broad.mit.edu	37	11	34129864	34129864	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:34129864A>C	ENST00000257829.3	+	2	298	c.92A>C	c.(91-93)gAt>gCt	p.D31A	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Missense_Mutation_p.D31A	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	31						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GTAGTTGGGGATCGAGGAAAA	0.423																																						uc001mvk.2																			0				ovary(1)|skin(1)	2						c.(91-93)GAT>GCT		N-acetyltransferase 10 isoform a							124.0	123.0	123.0					11																	34129864		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34129864A>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.92A>C	11.37:g.34129864A>C	ENSP00000257829:p.Asp31Ala					NAT10_uc010ren.1_Intron	p.D31A	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			2	336	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	31					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.92A>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556382	0.86231	.	.	ENSG00000135372	ENST00000257829;ENST00000529523;ENST00000527971	T;T;T	0.32515	1.45;1.45;1.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.94063	3.49	0.80722	D	1	D	0.60160	0.987	D	0.68621	0.959	T	0.75952	-0.3136	10	0.87932	D	0	-18.1553	15.5789	0.76418	1.0:0.0:0.0:0.0	.	31	Q9H0A0	NAT10_HUMAN	A	31	ENSP00000257829:D31A;ENSP00000435569:D31A;ENSP00000437324:D31A	ENSP00000257829:D31A	D	+	2	0	NAT10	34086440	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	9.036000	0.93758	2.140000	0.66376	0.459000	0.35465	GAT		0.423	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	
TRIM51	84767	broad.mit.edu	37	11	55653246	55653246	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:55653246G>A	ENST00000449290.2	+	2	434	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	114						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCTGTTTGCCGTGCTCCAACT	0.507																																						uc010rip.1																			0					0						c.(340-342)CCG>CCA		SPRY domain containing 5							20.0	19.0	19.0					11																	55653246		692	1591	2283	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55653246G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.342G>A	11.37:g.55653246G>A						SPRYD5_uc010riq.1_5'Flank	p.P114P	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	434	+		all_epithelial(135;0.226)	114			B box-type.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.342G>A																																																																																					0.507	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
OR8K3	219473	broad.mit.edu	37	11	56086106	56086106	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:56086106T>G	ENST00000312711.1	+	1	324	c.324T>G	c.(322-324)atT>atG	p.I108M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGTGTTCATTGGTAGTGAAC	0.378																																						uc010rjf.1																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(322-324)ATT>ATG		olfactory receptor, family 8, subfamily K,							94.0	93.0	93.0					11																	56086106		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086106T>G	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.324T>G	11.37:g.56086106T>G	ENSP00000323555:p.Ile108Met						p.I108M	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	324	+	Esophageal squamous(21;0.00448)		108			Helical; Name=3; (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.324T>G	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470543	0.04445	.	.	ENSG00000181689	ENST00000312711	T	0.19669	2.13	4.56	-5.11	0.02901	GPCR, rhodopsin-like superfamily (1);	0.193733	0.36665	N	0.002465	T	0.12689	0.0308	L	0.55743	1.74	0.09310	N	1	P	0.41450	0.75	B	0.39119	0.291	T	0.13176	-1.0519	10	0.31617	T	0.26	.	3.1199	0.06387	0.1228:0.3623:0.1029:0.412	.	108	Q8NH51	OR8K3_HUMAN	M	108	ENSP00000323555:I108M	ENSP00000323555:I108M	I	+	3	3	OR8K3	55842682	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.221000	0.00552	-0.619000	0.05648	-0.380000	0.06706	ATT		0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
TPCN2	219931	broad.mit.edu	37	11	68854047	68854047	+	Missense_Mutation	SNP	A	A	G	rs150476703		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:68854047A>G	ENST00000294309.3	+	23	2161	c.2060A>G	c.(2059-2061)aAc>aGc	p.N687S	TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	687					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCTGGGTCAACCTGTTTCTG	0.532													A|||	1	0.000199681	0.0	0.0	5008	,	,		16440	0.0		0.001	False		,,,				2504	0.0					uc001oos.2																			0					0						c.(2059-2061)AAC>AGC		two pore segment channel 2		A	SER/ASN	0,4400		0,0,2200	248.0	190.0	210.0		2060	4.2	1.0	11	dbSNP_134	210	3,8585	3.7+/-12.6	0,3,4291	yes	missense	TPCN2	NM_139075.3	46	0,3,6491	GG,GA,AA		0.0349,0.0,0.0231	probably-damaging	687/753	68854047	3,12985	2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68854047A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2060A>G	11.37:g.68854047A>G	ENSP00000294309:p.Asn687Ser					TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA	p.N687S	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		23	2176	+			687			Helical; Name=S6 of repeat II; (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.2060A>G	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424617	0.62733	0.0	3.49E-4	ENSG00000162341	ENST00000294309	D	0.99239	-5.61	4.18	4.18	0.49190	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.98968	1.0800	10	0.48119	T	0.1	-37.307	13.2098	0.59817	1.0:0.0:0.0:0.0	.	687	Q8NHX9	TPC2_HUMAN	S	687	ENSP00000294309:N687S	ENSP00000294309:N687S	N	+	2	0	TPCN2	68610623	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.733000	0.68571	1.683000	0.51011	0.454000	0.30748	AAC		0.532	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	
SLCO1A2	6579	broad.mit.edu	37	12	21457447	21457447	+	Missense_Mutation	SNP	C	C	T	rs148616059	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:21457447C>T	ENST00000307378.6	-	7	1223	c.503G>A	c.(502-504)cGt>cAt	p.R168H	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R168H|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.R36H|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R166H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.R36H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	168					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACCCATTCCACGTACAATATT	0.348																																						uc001rer.2																			0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(502-504)CGT>CAT		organic anion transporting polypeptide A		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	100.0	94.0	96.0		503,503	4.8	1.0	12	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SLCO1A2	NM_021094.3,NM_134431.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	168/671,168/671	21457447	2,13004	2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21457447C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.503G>A	12.37:g.21457447C>T	ENSP00000305974:p.Arg168His					SLCO1A2_uc001res.2_Missense_Mutation_p.R168H|SLCO1A2_uc010siq.1_Missense_Mutation_p.R36H|SLCO1A2_uc010sio.1_Missense_Mutation_p.R36H|SLCO1A2_uc010sip.1_Missense_Mutation_p.R36H|SLCO1A2_uc001ret.2_Missense_Mutation_p.R166H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R148H	p.R168H	NM_021094	NP_066580	P46721	SO1A2_HUMAN			5	754	-			168			Helical; Name=4; (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.503G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835182	0.91117	0.0	2.33E-4	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.62209	1.925	0.51012	D	0.999908	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.66284	-0.5962	10	0.15066	T	0.55	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	148;166;168	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	H	168;168;36;36;166	ENSP00000305974:R168H;ENSP00000393973:R168H;ENSP00000394854:R36H;ENSP00000439401:R36H;ENSP00000375088:R166H	ENSP00000305974:R168H	R	-	2	0	SLCO1A2	21348714	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.278000	0.78587	2.466000	0.83321	0.591000	0.81541	CGT		0.348	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094	
DDX11	1663	broad.mit.edu	37	12	31255360	31255360	+	Splice_Site	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:31255360G>T	ENST00000407793.2	+	23	2522		c.e23-1		DDX11_ENST00000542838.1_Splice_Site|DDX11_ENST00000350437.4_Splice_Site|DDX11_ENST00000228264.6_Splice_Site|DDX11_ENST00000545668.1_Splice_Site|DDX11_ENST00000251758.5_Splice_Site	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTCCTACAGGCCTGTGGCC	0.577										Multiple Myeloma(12;0.14)																												uc001rjt.1																			0				breast(3)	3						c.e23-1		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							57.0	67.0	64.0					12																	31255360		2203	4300	6503	SO:0001630	splice_region_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255360G>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2272-1G>T	12.37:g.31255360G>T		Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Splice_Site_p.A758_splice|DDX11_uc001rjs.1_Splice_Site_p.A708_splice|DDX11_uc001rju.1_Splice_Site_p.A430_splice|DDX11_uc001rjv.1_Splice_Site_p.A758_splice|DDX11_uc001rjw.1_Splice_Site_p.A732_splice|DDX11_uc009zjn.1_Splice_Site|DDX11_uc009zjo.1_5'Flank	p.A758_splice	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			23	2523	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)							Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000407793.2	37	c.2272_splice	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.635013	0.29068	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437;ENST00000539702	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0589	0.58996	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX11	31146627	1.000000	0.71417	0.143000	0.22291	0.012000	0.07955	8.310000	0.89971	1.973000	0.57446	0.603000	0.83216	.		0.577	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	Intron
NUP107	57122	broad.mit.edu	37	12	69124921	69124921	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:69124921T>C	ENST00000229179.4	+	21	2098	c.1766T>C	c.(1765-1767)aTa>aCa	p.I589T	NUP107_ENST00000539906.1_Missense_Mutation_p.I560T|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	589					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAAATCTTATAGCATTTTAT	0.303																																						uc001suf.2																			0				skin(1)	1						c.(1765-1767)ATA>ACA		nucleoporin 107kDa							65.0	66.0	66.0					12																	69124921		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69124921T>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1766T>C	12.37:g.69124921T>C	ENSP00000229179:p.Ile589Thr					NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.I560T	p.I589T	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		21	1881	+	Breast(13;6.25e-06)		589					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1766T>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183266	0.38511	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.33	5.33	0.75918	.	0.100581	0.64402	D	0.000002	T	0.65270	0.2675	M	0.75777	2.31	0.80722	D	1	B;B	0.28971	0.229;0.094	B;B	0.34038	0.174;0.16	T	0.63747	-0.6567	8	.	.	.	-23.0507	15.6061	0.76672	0.0:0.0:0.0:1.0	.	560;589	B4DZ67;P57740	.;NU107_HUMAN	T	589;560	.	.	I	+	2	0	NUP107	67411188	1.000000	0.71417	0.993000	0.49108	0.240000	0.25518	7.132000	0.77251	2.160000	0.67779	0.477000	0.44152	ATA		0.303	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
TRHDE	29953	broad.mit.edu	37	12	73014949	73014949	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:73014949T>A	ENST00000261180.4	+	14	2492	c.2396T>A	c.(2395-2397)tTt>tAt	p.F799Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	799					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAAAATAATTTTAATGGATCT	0.323																																						uc001sxa.2																			0				ovary(2)|skin(1)	3						c.(2395-2397)TTT>TAT		thyrotropin-releasing hormone degrading enzyme							109.0	101.0	104.0					12																	73014949		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73014949T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2396T>A	12.37:g.73014949T>A	ENSP00000261180:p.Phe799Tyr						p.F799Y	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			14	2426	+			799			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2396T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542227	0.27563	.	.	ENSG00000072657	ENST00000261180	T	0.05786	3.39	5.64	5.64	0.86602	.	0.394831	0.28425	N	0.015390	T	0.03695	0.0105	N	0.08118	0	0.24564	N	0.99396	B	0.30709	0.291	B	0.22601	0.04	T	0.38478	-0.9659	10	0.54805	T	0.06	.	11.2734	0.49153	0.1362:0.0:0.0:0.8638	.	799	Q9UKU6	TRHDE_HUMAN	Y	799	ENSP00000261180:F799Y	ENSP00000261180:F799Y	F	+	2	0	TRHDE	71301216	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	3.354000	0.52254	2.275000	0.75901	0.528000	0.53228	TTT		0.323	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
HCAR3	8843	broad.mit.edu	37	12	123200283	123200283	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:123200283G>A	ENST00000528880.2	-	1	1156	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	334					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TTTTGTTGGGGTCCCCTGTGA	0.542																																						uc001ucy.3																			0				ovary(1)|skin(1)	2						c.(1000-1002)GAC>GAT		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						42.0	50.0	48.0					12																	123200283		2202	4294	6496	SO:0001819	synonymous_variant	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200283G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1002C>T	12.37:g.123200283G>A						GPR81_uc001ucw.1_Intron	p.D334D	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	1157	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		334			Cytoplasmic (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	ENST00000528880.2	37	c.1002C>T	CCDS53842.1																																																																																				0.542	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018	
FLT3	2322	broad.mit.edu	37	13	28592705	28592705	+	Missense_Mutation	SNP	C	C	T	rs201208287		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr13:28592705C>T	ENST00000241453.7	-	20	2521	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.A814T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|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)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTTCCTGGCGGCCAGGTCT	0.453			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2440-2442)GCC>ACC		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						152.0	116.0	128.0					13																	28592705		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592705C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2440G>A	13.37:g.28592705C>T	ENSP00000241453:p.Ala814Thr					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron	p.A814T	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	20	2522	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	814			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2440G>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596450	0.96602	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.89875	-2.58;-2.58	5.88	5.88	0.94601	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.93363	0.7884	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93341	0.6710	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	814	P36888	FLT3_HUMAN	T	814	ENSP00000241453:A814T;ENSP00000370369:A814T	ENSP00000241453:A814T	A	-	1	0	FLT3	27490705	1.000000	0.71417	0.984000	0.44739	0.920000	0.55202	7.818000	0.86416	2.792000	0.96026	0.555000	0.69702	GCC		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
YLPM1	56252	broad.mit.edu	37	14	75264755	75264755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:75264755G>A	ENST00000325680.7	+	5	2879	c.2755G>A	c.(2755-2757)Gta>Ata	p.V919I	YLPM1_ENST00000238571.3_Missense_Mutation_p.V724I|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	724	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAAGGGCCCGTAGAGCCCTC	0.483																																						uc001xqj.3																			0				ovary(2)|pancreas(1)	3						c.(2755-2757)GTA>ATA		YLP motif containing 1							41.0	41.0	41.0					14																	75264755		1855	4092	5947	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264755G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2755G>A	14.37:g.75264755G>A	ENSP00000324463:p.Val919Ile					YLPM1_uc001xql.3_RNA	p.V919I	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2879	+			724					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2755G>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	1.858	-0.463427	0.04476	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.66	-3.35	0.04928	.	0.745667	0.12644	N	0.451032	T	0.11537	0.0281	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	9	0.46703	T	0.11	-0.6394	5.7008	0.17881	0.4292:0.0:0.3885:0.1823	.	919	P49750-4	.	I	919;724;632	.	ENSP00000238571:V724I	V	+	1	0	YLPM1	74334508	0.001000	0.12720	0.346000	0.25655	0.897000	0.52465	-0.228000	0.09114	-0.324000	0.08589	-1.020000	0.02445	GTA		0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589	
SETD3	84193	broad.mit.edu	37	14	99866491	99866491	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:99866491G>A	ENST00000331768.5	-	12	1442	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	428					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ttcaagaaatgtccaaagttt	0.373																																						uc001ygc.2																			0					0						c.(1282-1284)ACA>ATA		SET domain containing 3 isoform a							90.0	85.0	87.0					14																	99866491		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99866491G>A	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1283C>T	14.37:g.99866491G>A	ENSP00000327436:p.Thr428Ile						p.T428I	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			12	1453	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	428					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1283C>T	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688553	0.68271	.	.	ENSG00000183576	ENST00000331768	T	0.17691	2.26	5.36	5.36	0.76844	Rubisco LS methyltransferase, substrate-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	L	0.52126	1.63	0.80722	D	1	B	0.29646	0.253	B	0.26517	0.07	T	0.01874	-1.1256	10	0.39692	T	0.17	-8.6567	19.0955	0.93249	0.0:0.0:1.0:0.0	.	428	Q86TU7	SETD3_HUMAN	I	428	ENSP00000327436:T428I	ENSP00000327436:T428I	T	-	2	0	SETD3	98936244	1.000000	0.71417	0.963000	0.40424	0.957000	0.61999	9.581000	0.98210	2.511000	0.84671	0.655000	0.94253	ACA		0.373	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233	
HDC	3067	broad.mit.edu	37	15	50534686	50534686	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr15:50534686C>A	ENST00000267845.3	-	12	2162	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.C554F	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CACACTGTTGCAACTGAGGGA	0.542																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			0				large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1759-1761)TGC>TTC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						166.0	178.0	174.0					15																	50534686		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534686C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1760G>T	15.37:g.50534686C>A	ENSP00000267845:p.Cys587Phe					HDC_uc001zxy.2_Missense_Mutation_p.C330F|HDC_uc010uff.1_Missense_Mutation_p.C554F	p.C587F	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1866	-		all_lung(180;0.0138)	587						Missense_Mutation	SNP	ENST00000267845.3	37	c.1760G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635670	0.47049	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.13778	2.84;2.56	5.68	5.68	0.88126	.	0.330076	0.26987	N	0.021500	T	0.20820	0.0501	L	0.38175	1.15	0.80722	D	1	P;D	0.54397	0.93;0.966	P;P	0.49665	0.564;0.618	T	0.00210	-1.1916	10	0.72032	D	0.01	-22.7285	18.7742	0.91904	0.0:1.0:0.0:0.0	.	554;587	B7ZM01;P19113	.;DCHS_HUMAN	F	587;554	ENSP00000267845:C587F;ENSP00000440252:C554F	ENSP00000267845:C587F	C	-	2	0	HDC	48321978	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.021000	0.64072	2.676000	0.91093	0.563000	0.77884	TGC		0.542	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
CTC1	80169	broad.mit.edu	37	17	8136310	8136310	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:8136310C>T	ENST00000315684.8	-	11	1866	c.1859G>A	c.(1858-1860)tGt>tAt	p.C620Y		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	620					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAGTTGCAGACAACCTTTATG	0.483																																						uc002gkq.3																			0					0						c.(1858-1860)TGT>TAT		alpha accessory factor 132							145.0	148.0	147.0					17																	8136310		1975	4169	6144	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8136310C>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1859G>A	17.37:g.8136310C>T	ENSP00000313759:p.Cys620Tyr					C17orf68_uc010cnv.2_RNA	p.C620Y	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			11	1918	-			620					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1859G>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	c	4.569	0.105606	0.08780	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82433	-1.61;-1.61	5.9	-2.53	0.06326	.	0.872860	0.10444	N	0.673978	T	0.69223	0.3087	M	0.63428	1.95	0.27415	N	0.954468	B	0.06786	0.001	B	0.08055	0.003	T	0.55315	-0.8160	10	0.02654	T	1	0.6871	0.3477	0.00343	0.271:0.2835:0.1322:0.3133	.	620	Q2NKJ3	CTC1_HUMAN	Y	620;585	ENSP00000313759:C620Y;ENSP00000396018:C585Y	ENSP00000313759:C620Y	C	-	2	0	CTC1	8077035	0.932000	0.31603	0.872000	0.34217	0.996000	0.88848	-0.287000	0.08388	-0.383000	0.07858	0.651000	0.88453	TGT		0.483	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	
NUFIP2	57532	broad.mit.edu	37	17	27613998	27613998	+	Silent	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:27613998T>C	ENST00000225388.4	-	2	1072	c.1014A>G	c.(1012-1014)aaA>aaG	p.K338K	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	338						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTGGGGGTGGTTTAAATAGGG	0.413																																						uc002hdy.3																			0				skin(2)|ovary(1)|breast(1)	4						c.(1012-1014)AAA>AAG		nuclear fragile X mental retardation protein							117.0	123.0	121.0					17																	27613998		2203	4300	6503	SO:0001819	synonymous_variant	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613998T>C	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1014A>G	17.37:g.27613998T>C						NUFIP2_uc002hdx.3_Intron	p.K338K	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1103	-			338					A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	c.1014A>G	CCDS32600.1																																																																																				0.413	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772	
NF1	4763	broad.mit.edu	37	17	29556163	29556163	+	Missense_Mutation	SNP	C	C	T	rs199474785		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:29556163C>T	ENST00000358273.4	+	21	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_ENST00000356175.3_Missense_Mutation_p.L844F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	844			L -> F (in NF1; dbSNP:rs199474785). {ECO:0000269|PubMed:10980545, ECO:0000269|PubMed:15060124}.|L -> P (in NF1; dbSNP:rs137854566). {ECO:0000269|PubMed:15060124}.|L -> R (in NF1; sporadic; dbSNP:rs137854566). {ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:9150739}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM002379	NF1	M		c.(2530-2532)CTT>TTT		neurofibromin isoform 1							35.0	32.0	33.0					17																	29556163		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556163C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2530C>T	17.37:g.29556163C>T	ENSP00000351015:p.Leu844Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.L844F|NF1_uc010csn.1_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR	p.L844F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	2863	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	844		L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2530C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.335613	0.81801	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.36340	1.46;1.61;1.26	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.91635	0.999;0.991;0.996	T	0.67469	-0.5663	10	0.87932	D	0	.	19.5802	0.95464	0.0:1.0:0.0:0.0	.	844;844;844	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	F	844;844;510	ENSP00000351015:L844F;ENSP00000348498:L844F;ENSP00000389907:L510F	ENSP00000348498:L844F	L	+	1	0	NF1	26580289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.413000	0.44618	2.634000	0.89283	0.555000	0.69702	CTT		0.517	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
GAS2L2	246176	broad.mit.edu	37	17	34073181	34073181	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:34073181G>A	ENST00000254466.6	-	6	1362	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	GAS2L2_ENST00000587565.1_Silent_p.A429A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	445					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTGGTGGTGGCCTCAATGG	0.612																																						uc002hjv.1																			0				ovary(1)|skin(1)	2						c.(1333-1335)GCC>GCT		growth arrest-specific 2 like 2							149.0	162.0	158.0					17																	34073181		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073181G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1335C>T	17.37:g.34073181G>A							p.A445A	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1363	-		Ovarian(249;0.17)	445					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.1335C>T	CCDS11298.1																																																																																				0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
KRT28	162605	broad.mit.edu	37	17	38953242	38953242	+	Missense_Mutation	SNP	C	C	T	rs146193469		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:38953242C>T	ENST00000306658.7	-	5	969	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TGGCTCCGGGCGAAAGTGGCT	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16913	0.0		0.0	False		,,,				2504	0.0				Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1																			0				ovary(1)	1						c.(904-906)GCC>ACC		keratin 25D		C	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	50.0	56.0	54.0		904	5.0	0.6	17	dbSNP_134	54	0,8600		0,0,4300	yes	missense	KRT28	NM_181535.3	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	probably-damaging	302/465	38953242	6,13000	2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953242C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.904G>A	17.37:g.38953242C>T	ENSP00000305263:p.Ala302Thr						p.A302T	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			5	970	-		Breast(137;0.000301)	302			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000306658.7	37	c.904G>A	CCDS11376.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.93	3.259062	0.59321	0.001362	0.0	ENSG00000173908	ENST00000306658	D	0.89123	-2.47	5.0	5.0	0.66597	Filament (1);	0.000000	0.51477	D	0.000097	D	0.89385	0.6700	L	0.55103	1.725	0.39091	D	0.96109	D	0.56746	0.977	P	0.48552	0.581	D	0.90306	0.4333	10	0.45353	T	0.12	.	17.633	0.88114	0.0:1.0:0.0:0.0	.	302	Q7Z3Y7	K1C28_HUMAN	T	302	ENSP00000305263:A302T	ENSP00000305263:A302T	A	-	1	0	KRT28	36206768	0.072000	0.21174	0.624000	0.29186	0.066000	0.16364	1.732000	0.38146	2.479000	0.83701	0.591000	0.81541	GCC		0.662	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535	
MTMR4	9110	broad.mit.edu	37	17	56581411	56581411	+	Splice_Site	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56581411C>A	ENST00000323456.5	-	14	1780	c.1656G>T	c.(1654-1656)atG>atT	p.M552I	MTMR4_ENST00000579925.1_Intron	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	552	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGACTCACCATGTCTGAGC	0.483																																						uc002iwj.2																			0				skin(1)	1						c.(1654-1656)ATG>ATT		myotubularin related protein 4							58.0	61.0	60.0					17																	56581411		2203	4300	6503	SO:0001630	splice_region_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56581411C>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1656+1G>T	17.37:g.56581411C>A							p.M552I	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			14	1766	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		552			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1656G>T	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978056	0.34942	.	.	ENSG00000108389	ENST00000323456	D	0.89485	-2.52	5.81	5.81	0.92471	Myotubularin phosphatase domain (1);	0.948915	0.09000	N	0.863168	T	0.80644	0.4662	N	0.04746	-0.17	0.47009	D	0.999285	B	0.02656	0.0	B	0.04013	0.001	T	0.65508	-0.6151	9	.	.	.	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	552	Q9NYA4	MTMR4_HUMAN	I	552	ENSP00000325285:M552I	.	M	-	3	0	MTMR4	53936410	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	5.692000	0.68256	2.752000	0.94435	0.467000	0.42956	ATG		0.483	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	Missense_Mutation
MTMR4	9110	broad.mit.edu	37	17	56585838	56585838	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56585838C>T	ENST00000323456.5	-	7	666	c.542G>A	c.(541-543)aGc>aAc	p.S181N	MTMR4_ENST00000579925.1_Missense_Mutation_p.S181N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	181	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGTAGTTGCTGTTGATGTG	0.527																																						uc002iwj.2																			0				skin(1)	1						c.(541-543)AGC>AAC		myotubularin related protein 4							223.0	166.0	185.0					17																	56585838		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56585838C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.542G>A	17.37:g.56585838C>T	ENSP00000325285:p.Ser181Asn						p.S181N	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			7	652	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		181			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.542G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113081	0.37339	.	.	ENSG00000108389	ENST00000323456	D	0.93019	-3.15	6.07	6.07	0.98685	Myotubularin phosphatase domain (1);	0.212863	0.56097	D	0.000021	D	0.86748	0.6007	N	0.21097	0.63	0.34187	D	0.671654	B	0.14012	0.009	B	0.12837	0.008	D	0.83729	0.0197	10	0.30078	T	0.28	.	9.4772	0.38878	0.0:0.852:0.0:0.148	.	181	Q9NYA4	MTMR4_HUMAN	N	181	ENSP00000325285:S181N	ENSP00000325285:S181N	S	-	2	0	MTMR4	53940837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.095000	0.30964	2.890000	0.99128	0.650000	0.86243	AGC		0.527	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
GH1	2688	broad.mit.edu	37	17	61995152	61995152	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:61995152C>T	ENST00000323322.5	-	4	466	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.D127N|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.D102N	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	142					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TCCTCTAGGTCCTTTAGGAGG	0.587																																						uc002jdj.2																			0					0						c.(424-426)GAC>AAC		growth hormone 1 isoform 1							67.0	67.0	67.0					17																	61995152		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995152C>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.424G>A	17.37:g.61995152C>T	ENSP00000312673:p.Asp142Asn					GH1_uc002jdi.2_Missense_Mutation_p.D127N|GH1_uc002jdk.2_Missense_Mutation_p.D102N|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron	p.D142N	NM_000515	NP_000506	P01241	SOMA_HUMAN			4	486	-			142					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.424G>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	9.058	0.993713	0.19043	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.90844	-2.4;-2.4;-2.74	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.349972	0.30969	N	0.008501	D	0.90259	0.6954	M	0.69823	2.125	0.80722	D	1	B;B;B	0.25007	0.116;0.023;0.023	B;B;B	0.39771	0.309;0.033;0.033	D	0.88397	0.3012	10	0.54805	T	0.06	.	7.2631	0.26214	0.2637:0.7363:0.0:0.0	.	102;142;127	A6NEF6;P01241;B1A4G7	.;SOMA_HUMAN;.	N	142;127;102	ENSP00000312673:D142N;ENSP00000408486:D127N;ENSP00000343791:D102N	ENSP00000312673:D142N	D	-	1	0	GH1	59348884	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	1.847000	0.39299	1.594000	0.50039	0.298000	0.19748	GAC		0.587	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515	
ICAM2	3384	broad.mit.edu	37	17	62080238	62080238	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:62080238C>A	ENST00000412356.1	-	6	1051	c.697G>T	c.(697-699)Gtg>Ttg	p.V233L	ICAM2_ENST00000449662.2_Missense_Mutation_p.V233L|ICAM2_ENST00000581417.1_5'UTR|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.V233L|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000418105.1_Missense_Mutation_p.V233L|ICAM2_ENST00000578892.1_Missense_Mutation_p.V209L|ICAM2_ENST00000578379.1_Missense_Mutation_p.V132L|ICAM2_ENST00000579687.1_Missense_Mutation_p.V233L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	233					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GACAGCAACACCGACACCACC	0.612																																						uc002jdu.3																			0				ovary(1)	1						c.(697-699)GTG>TTG		intercellular adhesion molecule 2 precursor							116.0	86.0	96.0					17																	62080238		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62080238C>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.697G>T	17.37:g.62080238C>A	ENSP00000415283:p.Val233Leu					C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.V233L|ICAM2_uc010ded.2_Missense_Mutation_p.V233L|ICAM2_uc002jdx.3_Missense_Mutation_p.V233L|ICAM2_uc002jdv.3_Missense_Mutation_p.V233L	p.V233L	NM_000873	NP_000864	P13598	ICAM2_HUMAN			4	929	-			233			Helical; (Potential).		Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.697G>T	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	C	6.053	0.378150	0.11466	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.04119	3.7;3.7;3.7	4.51	1.09	0.20402	.	0.327066	0.22037	N	0.065518	T	0.04770	0.0129	L	0.52364	1.645	0.09310	N	1	B	0.22080	0.064	B	0.17979	0.02	T	0.31861	-0.9928	10	0.45353	T	0.12	-17.5125	5.6672	0.17702	0.0:0.4512:0.4304:0.1184	.	233	P13598	ICAM2_HUMAN	L	233	ENSP00000415283:V233L;ENSP00000388666:V233L;ENSP00000392634:V233L	ENSP00000415283:V233L	V	-	1	0	ICAM2	59433970	0.283000	0.24277	0.035000	0.18076	0.063000	0.16089	0.369000	0.20416	0.480000	0.27534	0.484000	0.47621	GTG		0.612	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1		
FADS6	283985	broad.mit.edu	37	17	72878745	72878745	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:72878745C>T	ENST00000310226.6	-	3	467	c.453G>A	c.(451-453)acG>acA	p.T151T		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	157					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCCTCCACGTGCTGGAGT	0.602																																						uc002jmd.1																			0					0						c.(451-453)ACG>ACA		fatty acid desaturase domain family, member 6							80.0	93.0	89.0					17																	72878745		2191	4286	6477	SO:0001819	synonymous_variant	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72878745C>T	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.453G>A	17.37:g.72878745C>T						FADS6_uc010wrn.1_Missense_Mutation_p.R68H	p.T151T	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			3	465	-	all_lung(278;0.172)|Lung NSC(278;0.207)		157					Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	c.453G>A	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641286	0.29157	.	.	ENSG00000172782	ENST00000413142	.	.	.	5.26	-6.85	0.01681	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.80722	D	1	B	0.17268	0.021	B	0.15484	0.013	T	0.13415	-1.0510	7	0.15066	T	0.55	-45.8144	11.9139	0.52755	0.0:0.1597:0.5453:0.295	.	68	B4DEP0	.	H	68	.	ENSP00000396743:R68H	R	-	2	0	FADS6	70390340	0.000000	0.05858	0.913000	0.36048	0.994000	0.84299	-5.235000	0.00139	-1.079000	0.03113	0.655000	0.94253	CGT		0.602	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1		
SGSH	6448	broad.mit.edu	37	17	78195495	78195495	+	5'Flank	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:78195495C>T	ENST00000326317.6	-	0	0				SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000411502.3_Nonsense_Mutation_p.Q46*|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000361193.3_Nonsense_Mutation_p.Q46*|SLC26A11_ENST00000546047.2_Nonsense_Mutation_p.Q46*|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Nonsense_Mutation_p.Q46*|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTACTCCCTGCAGTGGCTGAA	0.687																																						uc002jyb.1																			0					0						c.(136-138)CAG>TAG		solute carrier family 26, member 11							28.0	30.0	29.0					17																	78195495		2202	4300	6502	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78195495C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78195495C>T	Exception_encountered					SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Nonsense_Mutation_p.Q46*|SLC26A11_uc002jyd.1_Nonsense_Mutation_p.Q46*|SLC26A11_uc010dhv.1_Nonsense_Mutation_p.Q46*	p.Q46*	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		3	405	+	all_neural(118;0.0538)		46			Extracellular (Potential).		A8K5E2	Nonsense_Mutation	SNP	ENST00000326317.6	37	c.136C>T	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	c	36	5.698486	0.96802	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	.	.	.	4.37	-0.447	0.12234	.	0.662303	0.15964	N	0.236081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-3.9483	5.6628	0.17678	0.2505:0.5142:0.0:0.2353	.	.	.	.	X	46	.	ENSP00000355384:Q46X	Q	+	1	0	SLC26A11	75810090	0.046000	0.20272	0.280000	0.24747	0.922000	0.55478	0.111000	0.15458	0.121000	0.18284	0.586000	0.80456	CAG		0.687	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199	
REXO1	57455	broad.mit.edu	37	19	1828079	1828079	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:1828079G>A	ENST00000170168.4	-	2	803	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	237						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGTTGGAGAGAGGGTCATAC	0.701																																						uc002lua.3																			0					0						c.(709-711)CTC>TTC		transcription elongation factor B polypeptide 3							39.0	43.0	42.0					19																	1828079		2203	4283	6486	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828079G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.709C>T	19.37:g.1828079G>A	ENSP00000170168:p.Leu237Phe					REXO1_uc010dsr.1_Missense_Mutation_p.L191F	p.L237F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	804	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	237					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.709C>T	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460162	0.63401	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.28069	1.63	4.13	4.13	0.48395	.	0.282905	0.29273	N	0.012630	T	0.52533	0.1740	M	0.76002	2.32	0.49798	D	0.999821	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.96	T	0.56353	-0.7993	10	0.72032	D	0.01	-20.7441	10.8964	0.47025	0.0:0.0:0.8123:0.1877	.	191;237	F5H016;Q8N1G1	.;REXO1_HUMAN	F	237;191	ENSP00000170168:L237F	ENSP00000170168:L237F	L	-	1	0	REXO1	1779079	1.000000	0.71417	0.750000	0.31169	0.698000	0.40448	4.606000	0.61126	2.134000	0.65973	0.561000	0.74099	CTC		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695	
ANO8	57719	broad.mit.edu	37	19	17436028	17436028	+	Silent	SNP	G	G	A	rs144454643		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:17436028G>A	ENST00000159087.4	-	17	2987	c.2829C>T	c.(2827-2829)tcC>tcT	p.S943S		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	943					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGGCCTTCTCGGAGGAGGTGG	0.692																																						uc002ngf.2																			0				ovary(3)	3						c.(2827-2829)TCC>TCT		anoctamin 8		G		1,4405	2.1+/-5.4	0,1,2202	34.0	34.0	34.0		2829	-9.0	0.0	19	dbSNP_134	34	0,8596		0,0,4298	no	coding-synonymous	ANO8	NM_020959.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		943/1233	17436028	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17436028G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2829C>T	19.37:g.17436028G>A						ANO8_uc010eap.2_RNA	p.S943S	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			17	2988	-			943			Extracellular (Potential).		A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.2829C>T	CCDS32949.1																																																																																				0.692	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644	
CEACAM21	90273	broad.mit.edu	37	19	42083911	42083911	+	Splice_Site	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:42083911G>A	ENST00000401445.2	+	2	450	c.424G>A	c.(424-426)Gag>Aag	p.E142K	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Splice_Site_p.E142K|CEACAM21_ENST00000407170.2_5'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	142						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGTGTATACGGTGAGTGATT	0.522																																						uc002ore.3																			0				ovary(1)	1						c.(424-426)GAG>AAG		carcinoembryonic antigen-related cell adhesion							67.0	66.0	67.0					19																	42083911		2196	4296	6492	SO:0001630	splice_region_variant	90273					integral to membrane		g.chr19:42083911G>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.424+1G>A	19.37:g.42083911G>A						CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.E142K	p.E142K	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			2	520	+			142			Extracellular (Potential).		B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.424G>A	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	G	0.604	-0.827756	0.02734	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.52526	0.66;0.66	1.84	-0.859	0.10685	Immunoglobulin-like fold (1);	.	.	.	.	T	0.20007	0.0481	N	0.11870	0.19	0.09310	N	1	B;B	0.24258	0.1;0.01	B;B	0.21360	0.034;0.001	T	0.24621	-1.0155	9	0.06494	T	0.89	.	3.7367	0.08514	0.2773:0.4416:0.2811:0.0	.	142;142	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	K	142	ENSP00000187608:E142K;ENSP00000385739:E142K	ENSP00000187608:E142K	E	+	1	0	CEACAM21	46775751	0.001000	0.12720	0.009000	0.14445	0.296000	0.27459	-0.570000	0.05895	-0.095000	0.12351	0.123000	0.15791	GAG		0.522	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543	Missense_Mutation
NTF4	4909	broad.mit.edu	37	19	49564974	49564974	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:49564974A>C	ENST00000593537.1	-	1	280	c.281T>G	c.(280-282)cTg>cGg	p.L94R	CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000594938.1_5'Flank|NTF4_ENST00000451356.2_Intron|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000301411.3_Missense_Mutation_p.L94R|CGB7_ENST00000597853.1_5'Flank|CGB7_ENST00000356213.4_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	94					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCACACAGCCAGCTCACCCCG	0.692																																						uc002pmf.3																			0					0						c.(280-282)CTG>CGG		neurotrophin 5 preproprotein							20.0	17.0	18.0					19																	49564974		2182	4265	6447	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564974A>C		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.281T>G	19.37:g.49564974A>C	ENSP00000469455:p.Leu94Arg					CGB7_uc010yah.1_Intron	p.L94R	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	422	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	94					Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.281T>G	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129817	0.37630	.	.	ENSG00000167744	ENST00000301411	T	0.69306	-0.39	3.54	3.54	0.40534	Nerve growth factor-related (5);	0.507797	0.16678	N	0.204044	T	0.56426	0.1984	L	0.39147	1.195	0.41534	D	0.988474	P	0.43826	0.818	B	0.38755	0.281	T	0.63440	-0.6637	10	0.87932	D	0	-5.8971	11.7454	0.51817	1.0:0.0:0.0:0.0	.	94	P34130	NTF4_HUMAN	R	94	ENSP00000301411:L94R	ENSP00000301411:L94R	L	-	2	0	NTF4	54256786	0.080000	0.21391	1.000000	0.80357	0.441000	0.31987	1.491000	0.35583	1.583000	0.49898	0.260000	0.18958	CTG		0.692	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179	
KLK6	5653	broad.mit.edu	37	19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T	rs553226234		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:51466671C>T	ENST00000376851.3	-	4	771	c.332G>A	c.(331-333)cGc>cAc	p.R111H	KLK6_ENST00000310157.2_Missense_Mutation_p.R111H|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.R4H|KLK6_ENST00000391808.1_Missense_Mutation_p.R4H|KLK6_ENST00000594641.1_Missense_Mutation_p.R111H|KLK6_ENST00000376853.4_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19571	0.0		0.0	False		,,,				2504	0.001					uc002pui.2																			0					0						c.(331-333)CGC>CAC		kallikrein-related peptidase 6 isoform A							90.0	64.0	73.0					19																	51466671		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466671C>T	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.332G>A	19.37:g.51466671C>T	ENSP00000366047:p.Arg111His					KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R120H|KLK6_uc002puj.2_Missense_Mutation_p.R4H|KLK6_uc010ycn.1_Missense_Mutation_p.R4H|KLK6_uc002pul.2_Missense_Mutation_p.R111H|KLK6_uc002pum.2_Missense_Mutation_p.R4H	p.R111H	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	5	592	-		all_neural(266;0.026)	111			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.332G>A	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	16.24	3.066532	0.55539	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.69	-0.0942	0.13646	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.185873	0.26723	N	0.022831	T	0.80747	0.4682	M	0.63843	1.955	0.09310	N	1	P;B	0.35959	0.53;0.014	B;B	0.26202	0.067;0.002	T	0.71189	-0.4666	10	0.51188	T	0.08	.	3.6265	0.08114	0.1695:0.4454:0.0:0.3851	.	111;4	Q92876;Q92876-2	KLK6_HUMAN;.	H	111;111;4;4	ENSP00000309148:R111H;ENSP00000366047:R111H;ENSP00000375684:R4H;ENSP00000409241:R4H	ENSP00000309148:R111H	R	-	2	0	KLK6	56158483	0.093000	0.21703	0.396000	0.26296	0.892000	0.51952	0.379000	0.20585	0.178000	0.19917	0.486000	0.48141	CGC		0.617	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	
ZSCAN22	342945	broad.mit.edu	37	19	58850588	58850588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:58850588C>T	ENST00000329665.4	+	3	1519	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	458					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)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCAGAGGATCCACACGGGAGA	0.542																																						uc002qsc.2																			0				pancreas(1)	1						c.(1372-1374)CAC>TAC		zinc finger and SCAN domain containing 22							81.0	75.0	77.0					19																	58850588		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850588C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1372C>T	19.37:g.58850588C>T	ENSP00000332433:p.His458Tyr					ZSCAN22_uc010yhz.1_3'UTR	p.H458Y	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1519	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	458			C2H2-type 7.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1372C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821716	0.71028	.	.	ENSG00000182318	ENST00000329665	T	0.67523	-0.27	4.06	3.02	0.34903	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82273	0.5001	M	0.93898	3.47	0.36184	D	0.849591	D	0.71674	0.998	P	0.60609	0.877	D	0.87361	0.2344	9	0.87932	D	0	.	9.7364	0.40390	0.0:0.8961:0.0:0.1039	.	458	P10073	ZSC22_HUMAN	Y	458	ENSP00000332433:H458Y	ENSP00000332433:H458Y	H	+	1	0	ZSCAN22	63542400	1.000000	0.71417	0.639000	0.29394	0.966000	0.64601	5.369000	0.66138	1.041000	0.40125	0.563000	0.77884	CAC		0.542	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846	
C2orf16	84226	broad.mit.edu	37	2	27801373	27801373	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:27801373T>C	ENST00000408964.2	+	1	1985	c.1934T>C	c.(1933-1935)gTa>gCa	p.V645A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	645						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAACTGATAGTACCTGCAGAA	0.403																																						uc002rkz.3																			0				large_intestine(1)	1						c.(1933-1935)GTA>GCA		hypothetical protein LOC84226							95.0	92.0	93.0					2																	27801373		1872	4122	5994	SO:0001583	missense	84226							g.chr2:27801373T>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1934T>C	2.37:g.27801373T>C	ENSP00000386190:p.Val645Ala						p.V645A	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1985	+	Acute lymphoblastic leukemia(172;0.155)		645					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1934T>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	T	3.114	-0.181922	0.06340	.	.	ENSG00000221843	ENST00000408964	T	0.04758	3.56	4.69	3.52	0.40303	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.16289	0.015	T	0.47497	-0.9113	9	0.23891	T	0.37	.	7.4798	0.27398	0.7976:0.0:0.0:0.2024	.	645	Q68DN1	CB016_HUMAN	A	645	ENSP00000386190:V645A	ENSP00000386190:V645A	V	+	2	0	C2orf16	27654877	0.001000	0.12720	0.062000	0.19696	0.091000	0.18340	0.229000	0.17833	0.906000	0.36621	-0.527000	0.04329	GTA		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
SLC9A4	389015	broad.mit.edu	37	2	103149074	103149074	+	Missense_Mutation	SNP	C	C	T	rs199784614		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:103149074C>T	ENST00000295269.4	+	12	2781	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	775					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAGGTTCGGTCGAGGTGGACA	0.517																																						uc002tbz.3																			0				skin(2)|central_nervous_system(1)	3						c.(2323-2325)TCG>TTG		solute carrier family 9 (sodium/hydrogen							81.0	50.0	61.0					2																	103149074		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149074C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2324C>T	2.37:g.103149074C>T	ENSP00000295269:p.Ser775Leu						p.S775L	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			12	2781	+			775			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2324C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222554	0.39300	.	.	ENSG00000180251	ENST00000295269	T	0.44881	0.91	5.31	5.31	0.75309	.	0.432897	0.24970	N	0.034150	T	0.28863	0.0716	L	0.29908	0.895	0.09310	N	1	B	0.28208	0.203	B	0.17098	0.017	T	0.13845	-1.0494	10	0.39692	T	0.17	.	10.3858	0.44138	0.0:0.9098:0.0:0.0902	.	775	Q6AI14	SL9A4_HUMAN	L	775	ENSP00000295269:S775L	ENSP00000295269:S775L	S	+	2	0	SLC9A4	102515506	0.007000	0.16637	0.019000	0.16419	0.063000	0.16089	0.973000	0.29422	2.642000	0.89623	0.655000	0.94253	TCG		0.517	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
LRP2	4036	broad.mit.edu	37	2	169985569	169985569	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:169985569C>T	ENST00000263816.3	-	78	14039	c.13754G>A	c.(13753-13755)cGa>cAa	p.R4585Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4585					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTAGATTTTCGTTTGAAGAG	0.313																																						uc002ues.2																			0		p.R4585*(1)		ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(13753-13755)CGA>CAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						122.0	134.0	130.0					2																	169985569		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169985569C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13754G>A	2.37:g.169985569C>T	ENSP00000263816:p.Arg4585Gln						p.R4585Q	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	78	13967	-			4585			Cytoplasmic (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13754G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161238	0.78226	.	.	ENSG00000081479	ENST00000263816	D	0.90563	-2.69	5.75	5.75	0.90469	.	0.108636	0.64402	D	0.000016	D	0.88474	0.6446	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.54499	0.754	D	0.88246	0.2913	10	0.59425	D	0.04	.	9.5225	0.39145	0.1446:0.7808:0.0:0.0745	.	4585	P98164	LRP2_HUMAN	Q	4585	ENSP00000263816:R4585Q	ENSP00000263816:R4585Q	R	-	2	0	LRP2	169693815	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.123000	0.64703	2.701000	0.92244	0.557000	0.71058	CGA		0.313	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	rs373153121		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49207-49209)GTG>ATG		titin isoform N2-A		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151.0	150.0	151.0		29716,49207,30091,30292	5.2	1.0	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10098M|TTN_uc010zfi.1_Missense_Mutation_p.V10031M|TTN_uc010zfj.1_Missense_Mutation_p.V9906M	p.V16403M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	49431	-			17330					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49207G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PID1	55022	broad.mit.edu	37	2	229890703	229890703	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:229890703T>C	ENST00000354069.6	-	3	428	c.398A>G	c.(397-399)aAt>aGt	p.N133S	PID1_ENST00000409462.1_Missense_Mutation_p.N51S|PID1_ENST00000392054.3_Missense_Mutation_p.N131S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.N100S			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	133	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAGGAGGGCATTGGCCGGAAA	0.557																																						uc002vpr.3																			0				breast(3)|skin(1)	4						c.(397-399)AAT>AGT		phosphotyrosine interaction domain containing 1							95.0	91.0	93.0					2																	229890703		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890703T>C	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.398A>G	2.37:g.229890703T>C	ENSP00000283937:p.Asn133Ser					PID1_uc002vps.3_Missense_Mutation_p.N131S|PID1_uc002vpt.3_Missense_Mutation_p.N100S|PID1_uc002vpu.3_Missense_Mutation_p.N51S	p.N133S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	3	436	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	133			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.398A>G		.	.	.	.	.	.	.	.	.	.	T	15.55	2.867916	0.51588	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.044427	0.85682	D	0.000000	T	0.40448	0.1117	L	0.36672	1.1	0.51233	D	0.999915	B;B;P;P	0.42827	0.058;0.021;0.791;0.63	B;B;B;B	0.34873	0.058;0.034;0.187;0.191	T	0.30822	-0.9965	8	.	.	.	-42.8993	14.8992	0.70666	0.0:0.0:0.0:1.0	.	51;100;131;133	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	S	131;51;100;133;133	.	.	N	-	2	0	PID1	229598947	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.471000	0.60182	2.174000	0.68829	0.533000	0.62120	AAT		0.557	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
COL6A3	1293	broad.mit.edu	37	2	238285526	238285526	+	Missense_Mutation	SNP	C	C	T	rs140437593	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:238285526C>T	ENST00000295550.4	-	7	3411	c.2959G>A	c.(2959-2961)Gtg>Atg	p.V987M	COL6A3_ENST00000392003.2_Missense_Mutation_p.V580M|COL6A3_ENST00000392004.3_Missense_Mutation_p.V781M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V787M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V781M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V786M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V380M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V781M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	987	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGACAGCACGATCTGCTCT	0.512																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(2959-2961)GTG>ATG		alpha 3 type VI collagen isoform 1 precursor		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	211.0	193.0	199.0		2959,1738,2341,1138,2341	5.6	0.0	2	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	21,21,21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	987/3178,580/1037,781/1238,380/2571,781/2972	238285526	2,13004	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285526C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2959G>A	2.37:g.238285526C>T	ENSP00000295550:p.Val987Met					COL6A3_uc002vwo.2_Missense_Mutation_p.V781M|COL6A3_uc010znj.1_Missense_Mutation_p.V380M|COL6A3_uc002vwq.2_Missense_Mutation_p.V781M|COL6A3_uc002vwr.2_Missense_Mutation_p.V580M|COL6A3_uc010znk.1_Missense_Mutation_p.V787M	p.V987M	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3244	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	987			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2959G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486316	0.44147	0.0	2.33E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.278487	0.25071	N	0.033377	D	0.90349	0.6980	M	0.68593	2.085	0.24748	N	0.992998	D;D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0;0.993	P;D;D;D;D;P	0.83275	0.751;0.996;0.976;0.993;0.993;0.751	D	0.84330	0.0521	10	0.59425	D	0.04	.	17.677	0.88233	0.0:1.0:0.0:0.0	.	787;380;580;781;781;987	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	987;786;781;380;781;787;781;580	ENSP00000295550:V987M;ENSP00000315609:V786M;ENSP00000315873:V781M;ENSP00000418285:V380M;ENSP00000386844:V781M;ENSP00000295546:V787M;ENSP00000375861:V781M;ENSP00000375860:V580M	ENSP00000295550:V987M	V	-	1	0	COL6A3	237950265	0.775000	0.28604	0.043000	0.18650	0.155000	0.21991	2.442000	0.44873	2.610000	0.88304	0.655000	0.94253	GTG		0.512	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
SLC35C2	51006	broad.mit.edu	37	20	44979115	44979115	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:44979115A>G	ENST00000372227.1	-	10	1556	c.1016T>C	c.(1015-1017)cTg>cCg	p.L339P	SLC35C2_ENST00000372229.1_Missense_Mutation_p.L206P|SLC35C2_ENST00000317734.8_Missense_Mutation_p.L318P|SLC35C2_ENST00000372230.5_Missense_Mutation_p.L339P|SLC35C2_ENST00000243896.2_Missense_Mutation_p.L339P|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.L368P	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	339					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCAGGTCGGGGCT	0.617																																						uc002xro.2																			0				ovary(1)	1						c.(1015-1017)CTG>CCG		solute carrier family 35, member C2 isoform a							41.0	41.0	41.0					20																	44979115		2203	4300	6503	SO:0001583	missense	51006				transport	integral to membrane		g.chr20:44979115A>G		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.1016T>C	20.37:g.44979115A>G	ENSP00000361301:p.Leu339Pro					SLC35C2_uc002xrp.2_Missense_Mutation_p.L318P|SLC35C2_uc002xrq.2_Missense_Mutation_p.L339P|SLC35C2_uc002xrr.2_Missense_Mutation_p.L339P|SLC35C2_uc010zxn.1_Missense_Mutation_p.L204P|SLC35C2_uc010zxo.1_Missense_Mutation_p.L225P|SLC35C2_uc010zxp.1_Missense_Mutation_p.L368P	p.L339P	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN			10	1557	-		Myeloproliferative disorder(115;0.0122)	339					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Missense_Mutation	SNP	ENST00000372227.1	37	c.1016T>C	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757591	0.69648	.	.	ENSG00000080189	ENST00000317734;ENST00000243896;ENST00000372227;ENST00000372229;ENST00000372230;ENST00000372225;ENST00000543605	T;T	0.78816	-1.21;0.75	4.48	3.38	0.38709	.	0.207411	0.29335	N	0.012454	T	0.76090	0.3939	L	0.27053	0.805	0.80722	D	1	B;D;D;D	0.71674	0.0;0.997;0.998;0.997	B;P;D;P	0.66351	0.001;0.879;0.943;0.879	T	0.71307	-0.4632	10	0.30854	T	0.27	-7.4576	8.0278	0.30446	0.9071:0.0:0.0929:0.0	.	368;204;318;339	F5H4T9;B7Z6R4;Q9NQQ7-2;Q9NQQ7	.;.;.;S35C2_HUMAN	P	318;339;339;206;339;207;368	ENSP00000318960:L318P;ENSP00000361303:L206P	ENSP00000243896:L339P	L	-	2	0	SLC35C2	44412522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.470000	0.60175	0.756000	0.33013	0.533000	0.62120	CTG		0.617	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945	
PTGIS	5740	broad.mit.edu	37	20	48129691	48129691	+	Nonsense_Mutation	SNP	G	G	A	rs370453415		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:48129691G>A	ENST00000244043.4	-	8	1161	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	378					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TCACCACGTCGCAGGTTGAAT	0.612																																						uc002xut.2																			0				skin(2)|ovary(1)	3						c.(1132-1134)CGA>TGA		prostaglandin I2 synthase	Phenylbutazone(DB00812)	G	stop/ARG	0,4406		0,0,2203	103.0	96.0	99.0		1132	4.8	1.0	20		99	1,8599		0,1,4299	no	stop-gained	PTGIS	NM_000961.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		378/501	48129691	1,13005	2203	4300	6503	SO:0001587	stop_gained	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48129691G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1132C>T	20.37:g.48129691G>A	ENSP00000244043:p.Arg378*					PTGIS_uc010zyi.1_Nonsense_Mutation_p.R239*	p.R378*	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	1186	-			378					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Nonsense_Mutation	SNP	ENST00000244043.4	37	c.1132C>T	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	36	5.811399	0.96975	0.0	1.16E-4	ENSG00000124212	ENST00000244043	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6415	11.7405	0.51790	0.0:0.0:0.8234:0.1766	.	.	.	.	X	378	.	ENSP00000244043:R378X	R	-	1	2	PTGIS	47563098	0.979000	0.34478	1.000000	0.80357	0.997000	0.91878	1.781000	0.38644	2.202000	0.70862	0.561000	0.74099	CGA		0.612	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		
PKDREJ	10343	broad.mit.edu	37	22	46657006	46657006	+	Silent	SNP	G	G	A	rs368849728		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr22:46657006G>A	ENST00000253255.5	-	1	2213	c.2214C>T	c.(2212-2214)atC>atT	p.I738I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	738	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACTGATCGATGAGGTGTT	0.408																																						uc003bhh.2																			0				breast(3)|ovary(2)	5						c.(2212-2214)ATC>ATT		receptor for egg jelly-like protein precursor		G		2,4404	4.2+/-10.8	0,2,2201	97.0	98.0	98.0		2214	0.5	0.0	22		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKDREJ	NM_006071.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		738/2254	46657006	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657006G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2214C>T	22.37:g.46657006G>A							p.I738I	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2214	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	738			Extracellular (Potential).|REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.2214C>T	CCDS14073.1																																																																																				0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
CACNA1D	776	broad.mit.edu	37	3	53769408	53769408	+	Missense_Mutation	SNP	G	G	A	rs564937293	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:53769408G>A	ENST00000350061.5	+	20	3140	c.2629G>A	c.(2629-2631)Gta>Ata	p.V877I	CACNA1D_ENST00000288139.4_Missense_Mutation_p.V897I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V877I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	877					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGATCCGCGTAGGCTGCCA	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		19911	0.002		0.0	False		,,,				2504	0.0					uc003dgv.3																			0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(2629-2631)GTA>ATA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						141.0	122.0	128.0					3																	53769408		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769408G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2629G>A	3.37:g.53769408G>A	ENSP00000288133:p.Val877Ile					CACNA1D_uc003dgu.3_Missense_Mutation_p.V897I|CACNA1D_uc003dgy.3_Missense_Mutation_p.V877I|CACNA1D_uc003dgw.3_Missense_Mutation_p.V544I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V25I	p.V877I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	20	2792	+			877			Cytoplasmic (Potential).|III.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2629G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458555	0.63401	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96073	-3.88;-3.9;-3.9;-3.89	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	D	0.96420	0.8832	L	0.49571	1.57	0.80722	D	1	D;P;P;D	0.76494	0.997;0.594;0.594;0.999	P;B;B;P	0.62491	0.733;0.116;0.06;0.903	D	0.94869	0.8028	10	0.27785	T	0.31	.	19.6821	0.95969	0.0:0.0:1.0:0.0	.	877;570;877;897	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	I	877;897;877;570	ENSP00000288133:V877I;ENSP00000288139:V897I;ENSP00000409174:V877I;ENSP00000418014:V570I	ENSP00000288139:V897I	V	+	1	0	CACNA1D	53744448	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.789000	0.99068	2.719000	0.93026	0.555000	0.69702	GTA		0.587	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
CSN2	1447	broad.mit.edu	37	4	70823297	70823297	+	Missense_Mutation	SNP	G	G	T	rs375072668		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:70823297G>T	ENST00000353151.3	-	5	381	c.370C>A	c.(370-372)Ccc>Acc	p.P124T		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAAAAAAGGGTATCGTTGGA	0.483																																						uc003hes.3																			0					0						c.(370-372)CCC>ACC		casein beta precursor							109.0	112.0	111.0					4																	70823297		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823297G>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.370C>A	4.37:g.70823297G>T	ENSP00000341030:p.Pro124Thr					CSN2_uc003het.3_Missense_Mutation_p.P123T	p.P124T	NM_001891	NP_001882	P05814	CASB_HUMAN			5	383	-			124					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.370C>A	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858663	0.32791	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.05	-0.845	0.10737	.	0.434716	0.19949	N	0.102464	T	0.25606	0.0623	M	0.67700	2.07	0.09310	N	1	P	0.43750	0.816	B	0.37144	0.242	T	0.26985	-1.0087	9	0.72032	D	0.01	-1.5483	0.5635	0.00683	0.3101:0.173:0.3393:0.1776	.	124	P05814	CASB_HUMAN	T	124	.	ENSP00000341030:P124T	P	-	1	0	CSN2	70857886	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.036000	0.12185	-0.224000	0.09928	-0.142000	0.14014	CCC		0.483	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1		
KIAA1109	84162	broad.mit.edu	37	4	123200986	123200986	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:123200986G>T	ENST00000264501.4	+	51	9021	c.8648G>T	c.(8647-8649)gGg>gTg	p.G2883V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G2883V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G2883V			Q2LD37	K1109_HUMAN	KIAA1109	2883					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCCAAAGAGGGCTGAAGACA	0.433																																						uc003ieh.2																			0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(8647-8649)GGG>GTG		fragile site-associated protein							111.0	109.0	109.0					4																	123200986		1955	4151	6106	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123200986G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8648G>T	4.37:g.123200986G>T	ENSP00000264501:p.Gly2883Val					KIAA1109_uc003iel.1_Missense_Mutation_p.G818V	p.G2883V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			49	8693	+			2883					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8648G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.787937|4.787937	0.90367|0.90367	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|T	0.24151|0.51574	2.46;2.46;1.87|0.7	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62962|0.62962	0.2471|0.2471	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.63274|0.63274	-0.6674|-0.6674	10|7	0.51188|0.72032	T|D	0.08|0.01	.|.	19.779|19.779	0.96410|0.96410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2883;2883|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	V|S	2883|840	ENSP00000264501:G2883V;ENSP00000373390:G2883V;ENSP00000389925:G2883V|ENSP00000393219:R840S	ENSP00000264501:G2883V|ENSP00000393219:R840S	G|R	+|+	2|3	0|2	KIAA1109|KIAA1109	123420436|123420436	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.969000|0.969000	0.65631|0.65631	9.685000|9.685000	0.98661|0.98661	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ADAMTS16	170690	broad.mit.edu	37	5	5262847	5262847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:5262847C>T	ENST00000274181.7	+	18	2878	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	914	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCCAAGACACGACCTGTCAC	0.512																																						uc003jdl.2																			0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2740-2742)CGA>TGA		ADAM metallopeptidase with thrombospondin type 1							96.0	100.0	99.0					5																	5262847		2000	4156	6156	SO:0001587	stop_gained	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262847C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2740C>T	5.37:g.5262847C>T	ENSP00000274181:p.Arg914*					ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R914*	p.R914*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			18	2878	+			914			TSP type-1 2.		C6G490|Q8IVE2	Nonsense_Mutation	SNP	ENST00000274181.7	37	c.2740C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	40	8.268291	0.98735	.	.	ENSG00000145536	ENST00000274181	.	.	.	5.09	5.09	0.68999	.	0.072733	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	15.988	0.80176	0.0:1.0:0.0:0.0	.	.	.	.	X	914	.	ENSP00000274181:R914X	R	+	1	2	ADAMTS16	5315847	0.977000	0.34250	0.120000	0.21714	0.542000	0.35054	2.443000	0.44881	2.370000	0.80446	0.561000	0.74099	CGA		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
PCDHB15	56121	broad.mit.edu	37	5	140627258	140627258	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:140627258G>A	ENST00000231173.3	+	1	2112	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	704					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTCTCGGTGTTCCTGT	0.682																																						uc003lje.2																			0				ovary(2)|breast(2)|skin(1)	5						c.(2110-2112)TCG>TCA		protocadherin beta 15 precursor							107.0	112.0	110.0					5																	140627258		2203	4296	6499	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627258G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2112G>A	5.37:g.140627258G>A							p.S704S	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2112	+			704			Helical; (Potential).		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.2112G>A	CCDS4257.1																																																																																				0.682	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
KCTD16	57528	broad.mit.edu	37	5	143586570	143586570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:143586570A>T	ENST00000507359.3	+	2	1384	c.293A>T	c.(292-294)gAt>gTt	p.D98V	KCTD16_ENST00000512467.1_Missense_Mutation_p.D98V	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	98	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTCCTGCCTGATCACTTTCCA	0.478																																						uc003lnm.1																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(292-294)GAT>GTT		potassium channel tetramerisation domain							46.0	48.0	47.0					5																	143586570		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586570A>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.293A>T	5.37:g.143586570A>T	ENSP00000426548:p.Asp98Val					KCTD16_uc003lnn.1_Missense_Mutation_p.D98V	p.D98V	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	922	+		all_hematologic(541;0.118)	98			BTB.		Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.293A>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862644	0.71949	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.44881	0.91;0.91	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71639	-0.4532	10	0.66056	D	0.02	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	98	Q68DU8	KCD16_HUMAN	V	98	ENSP00000424151:D98V;ENSP00000426548:D98V	ENSP00000426548:D98V	D	+	2	0	KCTD16	143566763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.271000	0.75665	0.459000	0.35465	GAT		0.478	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
OR12D2	26529	broad.mit.edu	37	6	29364556	29364556	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29364556T>C	ENST00000383555.2	+	1	141	c.80T>C	c.(79-81)gTg>gCg	p.V27A	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTCTCTTCGTGGTTTTCCTC	0.438																																						uc003nmf.3																			0				ovary(1)	1						c.(79-81)GTG>GCG		olfactory receptor, family 12, subfamily D,							166.0	187.0	179.0					6																	29364556		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364556T>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.80T>C	6.37:g.29364556T>C	ENSP00000373047:p.Val27Ala						p.V27A	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	141	+			27			Helical; Name=1; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.80T>C	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	T	7.259	0.604759	0.14002	.	.	ENSG00000168787	ENST00000383555	T	0.00460	7.27	4.07	-1.59	0.08453	.	0.861531	0.09978	N	0.731348	T	0.00073	0.0002	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.05550	-1.0878	10	0.17369	T	0.5	.	5.1835	0.15173	0.0:0.3273:0.2794:0.3933	.	27	P58182	O12D2_HUMAN	A	27	ENSP00000373047:V27A	ENSP00000373047:V27A	V	+	2	0	OR12D2	29472535	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.081000	0.01367	-0.162000	0.10964	-0.684000	0.03749	GTG		0.438	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2		
UBD	10537	broad.mit.edu	37	6	29523710	29523710	+	Missense_Mutation	SNP	C	C	T	rs544222490	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29523710C>T	ENST00000377050.4	-	2	668	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	149	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCTGATGCCGTAATCTGCC	0.473													C|||	5	0.000998403	0.0008	0.0	5008	,	,		21205	0.0		0.0	False		,,,				2504	0.0041					uc003nmo.2																			0					0						c.(445-447)GGC>AGC		ubiquitin D							157.0	142.0	147.0					6																	29523710		1510	2709	4219	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29523710C>T	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.445G>A	6.37:g.29523710C>T	ENSP00000366249:p.Gly149Ser					GABBR1_uc003nmp.3_3'UTR	p.G149S	NM_006398	NP_006389	O15205	UBD_HUMAN			2	669	-			149			Ubiquitin 2.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.445G>A	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049972	0.36181	.	.	ENSG00000213886	ENST00000377050	T	0.16897	2.31	5.32	-7.36	0.01417	Ubiquitin supergroup (1);Ubiquitin (2);	1.018710	0.07903	U	0.973037	T	0.03959	0.0111	L	0.46947	1.48	0.09310	N	1	B	0.18310	0.027	B	0.10450	0.005	T	0.46830	-0.9163	10	0.72032	D	0.01	-8.559	4.8655	0.13606	0.0987:0.2483:0.0976:0.5554	.	149	O15205	UBD_HUMAN	S	149	ENSP00000366249:G149S	ENSP00000366249:G149S	G	-	1	0	UBD	29631689	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.918000	0.04021	-1.303000	0.02332	-0.908000	0.02827	GGC		0.473	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3		
COL12A1	1303	broad.mit.edu	37	6	75840567	75840567	+	Splice_Site	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:75840567C>T	ENST00000322507.8	-	36	6377		c.e36+1		COL12A1_ENST00000416123.2_Splice_Site|COL12A1_ENST00000345356.6_Splice_Site|COL12A1_ENST00000483888.2_Splice_Site	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTGCCTCACGCGTTCGGCC	0.562																																						uc003phs.2																			0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.e36+1		collagen, type XII, alpha 1 long isoform							69.0	70.0	69.0					6																	75840567		1993	4169	6162	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840567C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6067+1G>A	6.37:g.75840567C>T						COL12A1_uc003pht.2_Splice_Site_p.L859_splice	p.L2023_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN			36	6233	-								O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Splice_Site	SNP	ENST00000322507.8	37	c.6067_splice	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609254	0.87258	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.	.	.	5.6	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5548	0.68094	0.0:0.9298:0.0:0.0702	.	.	.	.	.	-1	.	.	.	-	.	.	COL12A1	75897287	1.000000	0.71417	0.925000	0.36789	0.984000	0.73092	6.321000	0.72881	1.368000	0.46115	0.655000	0.94253	.		0.562	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Intron
THEMIS	387357	broad.mit.edu	37	6	128134889	128134889	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:128134889G>A	ENST00000368248.2	-	4	1045	c.897C>T	c.(895-897)agC>agT	p.S299S	THEMIS_ENST00000368250.1_Silent_p.S220S|THEMIS_ENST00000537166.1_Silent_p.S264S|THEMIS_ENST00000543064.1_Silent_p.S299S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	299	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTGTAAAATGCTTTGGGGCA	0.393																																						uc003qbi.2																			0				ovary(2)|skin(2)	4						c.(895-897)AGC>AGT		thymocyte selection pathway associated isoform							114.0	120.0	118.0					6																	128134889		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134889G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.897C>T	6.37:g.128134889G>A						THEMIS_uc010kfa.2_Silent_p.S202S|THEMIS_uc011ebt.1_Silent_p.S299S|THEMIS_uc010kfb.2_Silent_p.S264S	p.S299S	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1216	-			299			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.897C>T	CCDS34534.1																																																																																				0.393	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
GPR126	57211	broad.mit.edu	37	6	142736934	142736934	+	Splice_Site	DEL	A	A	-			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:142736934delA	ENST00000230173.6	+	20	3147	c.2671delA	c.(2671-2673)aaa>aa	p.K891fs	GPR126_ENST00000367608.2_Splice_Site_p.K863fs|GPR126_ENST00000296932.8_Splice_Site_p.K863fs|GPR126_ENST00000367609.3_Splice_Site_p.K891fs	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	891					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)		ATTTTTTAGGAAATTGCGAAG	0.398																																						uc010khc.2																			0				ovary(1)	1						c.(2671-2673)AAAfs		G protein-coupled receptor 126 alpha 1							63.0	60.0	61.0					6																	142736934		1825	4094	5919	SO:0001630	splice_region_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736934delA	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.2670-1A>-	6.37:g.142736934delA						GPR126_uc010khd.2_Frame_Shift_Del_p.K863fs|GPR126_uc010khe.2_Frame_Shift_Del_p.K891fs|GPR126_uc010khf.2_Frame_Shift_Del_p.K863fs	p.K891fs	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3082	+	Breast(32;0.176)		891			Cytoplasmic (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Frame_Shift_Del	DEL	ENST00000230173.6	37	c.2671delA	CCDS47490.1																																																																																				0.398	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		Frame_Shift_Del
SEMA3E	9723	broad.mit.edu	37	7	83016344	83016344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:83016344G>A	ENST00000307792.3	-	15	2157	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R504*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	564					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTCCATGTCGAACATCTTGT	0.363																																						uc003uhy.1																			0				ovary(3)	3						c.(1690-1692)CGA>TGA		semaphorin 3E precursor							88.0	75.0	80.0					7																	83016344		2203	4300	6503	SO:0001587	stop_gained	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83016344G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1690C>T	7.37:g.83016344G>A	ENSP00000303212:p.Arg564*						p.R564*	NM_012431	NP_036563	O15041	SEM3E_HUMAN			15	2156	-		Medulloblastoma(109;0.109)	564					B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	c.1690C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	39	7.713273	0.98447	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6817	0.95967	0.0:0.0:1.0:0.0	.	.	.	.	X	564;504;564	.	ENSP00000303212:R564X	R	-	1	2	SEMA3E	82854280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.438000	0.66550	2.653000	0.90120	0.650000	0.86243	CGA		0.363	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
COL1A2	1278	broad.mit.edu	37	7	94052404	94052404	+	Missense_Mutation	SNP	G	G	A	rs72658196		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:94052404G>A	ENST00000297268.6	+	40	3010	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	847			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G847S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGAAGGGTCCCTCTGG	0.502										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	GRCh37	CM070816	COL1A2	M	rs72658196	c.(2539-2541)GGT>AGT		alpha 2 type I collagen precursor	Collagenase(DB00048)						128.0	120.0	123.0					7																	94052404		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052404G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2539G>A	7.37:g.94052404G>A	ENSP00000297268:p.Gly847Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.G847S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	3010	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		847		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2539G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740412	0.89573	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99607	-6.27	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96766	0.9565	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	847	P08123	CO1A2_HUMAN	S	847;848	ENSP00000297268:G847S	ENSP00000297268:G847S	G	+	1	0	COL1A2	93890340	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.869000	0.99810	2.614000	0.88457	0.563000	0.77884	GGT		0.502	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
TRIM4	89122	broad.mit.edu	37	7	99516919	99516919	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:99516919G>T	ENST00000355947.2	-	1	235	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	TRIM4_ENST00000349062.2_Missense_Mutation_p.L36M|TRIM4_ENST00000354241.5_Missense_Mutation_p.L36M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	36					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TTGCGGTGCAGGCAGCCGCGG	0.701																																						uc003usd.2																			0				ovary(1)|kidney(1)	2						c.(106-108)CTG>ATG		tripartite motif protein TRIM4 isoform alpha							5.0	5.0	5.0					7																	99516919		1997	3935	5932	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99516919G>T	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.106C>A	7.37:g.99516919G>T	ENSP00000348216:p.Leu36Met					TRIM4_uc003use.2_Missense_Mutation_p.L36M|TRIM4_uc011kjc.1_Translation_Start_Site|TRIM4_uc003usf.2_Missense_Mutation_p.L36M	p.L36M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			1	236	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	36			RING-type.		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.106C>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043638	0.36085	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000354241	T;T;T	0.09445	2.98;2.98;2.98	2.29	-2.1	0.07210	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.28067	0.0692	M	0.88377	2.95	0.22226	N	0.999273	D;P;P	0.76494	0.999;0.865;0.889	D;P;P	0.71656	0.974;0.529;0.66	T	0.17623	-1.0363	8	.	.	.	.	0.9087	0.01290	0.2362:0.3177:0.2792:0.1669	.	36;36;36	Q9C037-3;Q9C037-2;Q9C037	.;.;TRIM4_HUMAN	M	36	ENSP00000348216:L36M;ENSP00000275736:L36M;ENSP00000346186:L36M	.	L	-	1	2	TRIM4	99354855	1.000000	0.71417	0.115000	0.21578	0.253000	0.25986	1.393000	0.34497	-0.607000	0.05738	-1.008000	0.02478	CTG		0.701	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017	
OR2A12	346525	broad.mit.edu	37	7	143792582	143792582	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:143792582C>A	ENST00000408949.2	+	1	442	c.382C>A	c.(382-384)Ccc>Acc	p.P128T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AATCTGTCACCCCTTGCAATA	0.433																																						uc011kty.1																			0				ovary(2)|central_nervous_system(1)	3						c.(382-384)CCC>ACC		olfactory receptor, family 2, subfamily A,							218.0	201.0	206.0					7																	143792582		2046	4215	6261	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792582C>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.382C>A	7.37:g.143792582C>A	ENSP00000386174:p.Pro128Thr						p.P128T	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	382	+	Melanoma(164;0.0783)		128			Cytoplasmic (Potential).		Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.382C>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289466	0.40494	.	.	ENSG00000221858	ENST00000408949	T	0.01887	4.58	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25344	0.0616	H	0.99464	4.58	0.45307	D	0.998307	D	0.67145	0.996	D	0.70716	0.97	T	0.53788	-0.8389	9	0.87932	D	0	-25.8557	14.1199	0.65180	0.0:1.0:0.0:0.0	.	128	Q8NGT7	O2A12_HUMAN	T	128	ENSP00000386174:P128T	ENSP00000386174:P128T	P	+	1	0	OR2A12	143423515	1.000000	0.71417	0.309000	0.25155	0.004000	0.04260	5.748000	0.68697	2.182000	0.69389	0.505000	0.49811	CCC		0.433	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1		
PTK2B	2185	broad.mit.edu	37	8	27301729	27301729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:27301729C>T	ENST00000397501.1	+	28	2963	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	PTK2B_ENST00000397497.4_Nonsense_Mutation_p.R465*|PTK2B_ENST00000517339.1_Nonsense_Mutation_p.R719*|PTK2B_ENST00000544172.1_Nonsense_Mutation_p.R719*|PTK2B_ENST00000338238.4_Nonsense_Mutation_p.R719*|PTK2B_ENST00000346049.5_Nonsense_Mutation_p.R719*|PTK2B_ENST00000420218.2_Nonsense_Mutation_p.R719*	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	719	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CCAGCCCAGCCGACCTAAGTA	0.542																																						uc003xfn.1																			0				lung(3)|ovary(1)|skin(1)	5						c.(2155-2157)CGA>TGA		PTK2B protein tyrosine kinase 2 beta isoform a							128.0	114.0	119.0					8																	27301729		2203	4300	6503	SO:0001587	stop_gained	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27301729C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2155C>T	8.37:g.27301729C>T	ENSP00000380638:p.Arg719*					PTK2B_uc003xfo.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfp.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfq.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfr.1_Nonsense_Mutation_p.R465*	p.R719*	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	28	2963	+		Ovarian(32;2.72e-05)	719			Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Nonsense_Mutation	SNP	ENST00000397501.1	37	c.2155C>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	45	11.791622	0.99603	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	.	.	.	5.13	3.33	0.38152	.	0.047558	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.037	0.30499	0.1585:0.7578:0.0:0.0836	.	.	.	.	X	719;724;719;719;719;719;719;465	.	ENSP00000342242:R719X	R	+	1	2	PTK2B	27357646	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.203000	0.32284	0.730000	0.32425	0.655000	0.94253	CGA		0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103	
ZC2HC1A	51101	broad.mit.edu	37	8	79590915	79590915	+	Splice_Site	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:79590915G>A	ENST00000263849.4	+	3	312		c.e3+1		ZC2HC1A_ENST00000521176.1_Splice_Site	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A								metal ion binding (GO:0046872)										CAAACCGAGGGTAACTATATA	0.333																																						uc003ybd.2																			0				ovary(1)	1						c.e3+1		hypothetical protein LOC51101							96.0	99.0	98.0					8																	79590915		2203	4300	6503	SO:0001630	splice_region_variant	51101							g.chr8:79590915G>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.210+1G>A	8.37:g.79590915G>A							p.R70_splice	NM_016010	NP_057094	Q96GY0	F164A_HUMAN			3	312	+								Q9Y372	Splice_Site	SNP	ENST00000263849.4	37	c.210_splice	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152345	0.78001	.	.	ENSG00000104427	ENST00000263849	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8459	0.96707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM164A	79753470	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.102000	0.94226	2.788000	0.95919	0.585000	0.79938	.		0.333	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010	Intron
RAD54B	25788	broad.mit.edu	37	8	95403893	95403893	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:95403893T>A	ENST00000336148.5	-	10	1877	c.1753A>T	c.(1753-1755)Ata>Tta	p.I585L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	585					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAGCTCCTATACATATTAGA	0.408								Direct reversal of damage;Homologous recombination																														uc003ygk.2																			0				kidney(2)|lung(1)|skin(1)	4						c.(1753-1755)ATA>TTA	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							118.0	119.0	118.0					8																	95403893		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403893T>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1753A>T	8.37:g.95403893T>A	ENSP00000336606:p.Ile585Leu					RAD54B_uc010may.1_Missense_Mutation_p.I392L|RAD54B_uc003ygl.1_RNA	p.I585L	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1851	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.1753A>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	33	5.244866	0.95272	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.72835	-0.69	5.11	5.11	0.69529	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	L	0.27944	0.81	0.80722	D	1	D	0.58620	0.983	P	0.58013	0.831	T	0.74503	-0.3644	10	0.51188	T	0.08	-38.3537	15.203	0.73157	0.0:0.0:0.0:1.0	.	585	Q9Y620	RA54B_HUMAN	L	585;257	ENSP00000336606:I585L	ENSP00000336606:I585L	I	-	1	0	RAD54B	95473069	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.997000	0.88414	2.039000	0.60335	0.528000	0.53228	ATA		0.408	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
PLEC	5339	broad.mit.edu	37	8	144990758	144990758	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:144990758C>T	ENST00000322810.4	-	32	13811	c.13642G>A	c.(13642-13644)Gcc>Acc	p.A4548T	PLEC_ENST00000354589.3_Missense_Mutation_p.A4411T|PLEC_ENST00000357649.2_Missense_Mutation_p.A4415T|PLEC_ENST00000527096.1_Missense_Mutation_p.A4434T|PLEC_ENST00000436759.2_Missense_Mutation_p.A4438T|PLEC_ENST00000354958.2_Missense_Mutation_p.A4389T|PLEC_ENST00000356346.3_Missense_Mutation_p.A4397T|PLEC_ENST00000398774.2_Missense_Mutation_p.A4379T|PLEC_ENST00000345136.3_Missense_Mutation_p.A4411T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4548	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCAGGGCCTCGTCCAGG	0.682																																						uc003zaf.1																			0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13642-13644)GCC>ACC		plectin isoform 1							32.0	36.0	35.0					8																	144990758		1956	4104	6060	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144990758C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13642G>A	8.37:g.144990758C>T	ENSP00000323856:p.Ala4548Thr					PLEC_uc003zab.1_Missense_Mutation_p.A4411T|PLEC_uc003zac.1_Missense_Mutation_p.A4415T|PLEC_uc003zad.2_Missense_Mutation_p.A4411T|PLEC_uc003zae.1_Missense_Mutation_p.A4379T|PLEC_uc003zag.1_Missense_Mutation_p.A4389T|PLEC_uc003zah.2_Missense_Mutation_p.A4397T|PLEC_uc003zaj.2_Missense_Mutation_p.A4438T	p.A4548T	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13812	-			4548			Plectin 32.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13642G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.590	0.670566	0.14776	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	5.05	5.05	0.67936	.	0.085246	0.44483	U	0.000446	D	0.98413	0.9472	M	0.92923	3.36	0.47778	D	0.999513	D;D;D;D;D;D;D;D	0.63046	0.99;0.99;0.99;0.992;0.99;0.99;0.99;0.99	P;P;P;P;P;P;P;P	0.54815	0.649;0.649;0.649;0.761;0.649;0.649;0.649;0.649	D	0.99636	1.0987	10	0.87932	D	0	.	18.2089	0.89864	0.0:1.0:0.0:0.0	.	4438;4397;4389;4548;4379;4411;4415;4411	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	4411;4415;4411;4379;4548;4389;4397;4438;4434	ENSP00000344848:A4411T;ENSP00000350277:A4415T;ENSP00000346602:A4411T;ENSP00000381756:A4379T;ENSP00000323856:A4548T;ENSP00000347044:A4389T;ENSP00000348702:A4397T;ENSP00000388180:A4438T;ENSP00000434583:A4434T	ENSP00000323856:A4548T	A	-	1	0	PLEC	145062746	0.998000	0.40836	1.000000	0.80357	0.041000	0.13682	3.841000	0.55850	2.606000	0.88127	0.643000	0.83706	GCC		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
RMI1	80010	broad.mit.edu	37	9	86616796	86616796	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:86616796C>A	ENST00000325875.3	+	3	1227	c.895C>A	c.(895-897)Cca>Aca	p.P299T		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	299					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAAAGAGGAACCATCAAACCT	0.398																																						uc004anq.3																			0					0						c.(895-897)CCA>ACA		RMI1, RecQ mediated genome instability 1,							83.0	81.0	82.0					9																	86616796		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86616796C>A	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.895C>A	9.37:g.86616796C>A	ENSP00000317039:p.Pro299Thr					RMI1_uc004anr.3_Missense_Mutation_p.P299T|RMI1_uc004anp.3_Missense_Mutation_p.P299T|RMI1_uc004ans.3_Missense_Mutation_p.P299T	p.P299T	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN			3	1303	+			299					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.895C>A	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.687824	0.00100	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.40756	1.02;1.64	5.52	2.53	0.30540	.	0.657345	0.15620	N	0.252960	T	0.25754	0.0627	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.23190	-1.0195	10	0.08381	T	0.77	-0.5356	2.1236	0.03731	0.3065:0.429:0.1081:0.1564	.	299	Q9H9A7	RMI1_HUMAN	T	299	ENSP00000402433:P299T;ENSP00000317039:P299T	ENSP00000317039:P299T	P	+	1	0	RMI1	85806616	0.000000	0.05858	0.704000	0.30370	0.005000	0.04900	-0.015000	0.12634	0.820000	0.34516	-0.136000	0.14681	CCA		0.398	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
LHX3	8022	broad.mit.edu	37	9	139092527	139092527	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:139092527C>A	ENST00000371748.5	-	2	248	c.152G>T	c.(151-153)tGg>tTg	p.W51L	LHX3_ENST00000371746.3_Missense_Mutation_p.W56L	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	51	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTTGCTGTGCCAGTGGCGGTC	0.607																																						uc004cha.2																			0				skin(1)	1						c.(151-153)TGG>TTG		LIM homeobox protein 3 isoform a							72.0	66.0	68.0					9																	139092527		2203	4300	6503	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139092527C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.152G>T	9.37:g.139092527C>A	ENSP00000360813:p.Trp51Leu					LHX3_uc004cgz.2_Missense_Mutation_p.W56L	p.W51L	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	2	249	-		Myeloproliferative disorder(178;0.0511)	51			LIM zinc-binding 1.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.152G>T	CCDS6994.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748188|3.748188	0.69533|0.69533	.|.	.|.	ENSG00000107187|ENSG00000107187	ENST00000325195|ENST00000371748;ENST00000371746	.|D;D	.|0.91068	.|-2.78;-2.78	4.65|4.65	4.65|4.65	0.58169|0.58169	.|Zinc finger, LIM-type (5);	.|0.073333	.|0.64402	.|D	.|0.000014	D|D	0.97520|0.97520	0.9188|0.9188	H|H	0.99582|0.99582	4.64|4.64	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.979	.|D;D	.|0.68765	.|0.96;0.942	D|D	0.99357|0.99357	1.0916|1.0916	6|10	0.87932|0.87932	D|D	0|0	.|.	16.6714|16.6714	0.85268|0.85268	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|51;56	.|Q9UBR4;F1T0D9	.|LHX3_HUMAN;.	C|L	55|51;56	.|ENSP00000360813:W51L;ENSP00000360811:W56L	ENSP00000319224:G55C|ENSP00000360811:W56L	G|W	-|-	1|2	0|0	LHX3|LHX3	138232348|138232348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.033000|0.033000	0.12548|0.12548	7.405000|7.405000	0.80007|0.80007	2.424000|2.424000	0.82194|0.82194	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.607	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3		
ARSE	415	broad.mit.edu	37	X	2867744	2867744	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:2867744C>G	ENST00000381134.3	-	6	521	c.455G>C	c.(454-456)tGt>tCt	p.C152S	ARSE_ENST00000540563.1_Missense_Mutation_p.C107S|ARSE_ENST00000545496.1_Missense_Mutation_p.C177S	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	152					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTGACTCACAGTTGAGACC	0.483																																						uc004crc.3																			0				ovary(1)|central_nervous_system(1)	2						c.(454-456)TGT>TCT		arylsulfatase E precursor							61.0	42.0	48.0					X																	2867744		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867744C>G	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.455G>C	X.37:g.2867744C>G	ENSP00000370526:p.Cys152Ser					ARSE_uc011mhi.1_Missense_Mutation_p.C98S|ARSE_uc011mhh.1_Missense_Mutation_p.C177S	p.C152S	NM_000047	NP_000038	P51690	ARSE_HUMAN			6	705	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	152					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.455G>C	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098835	0.37048	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134;ENST00000438544	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	3.56	3.56	0.40772	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	M	0.79123	2.44	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.989;0.941	D	0.99091	1.0840	10	0.52906	T	0.07	.	14.5713	0.68213	0.0:1.0:0.0:0.0	.	107;177;152	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	S	107;177;152;152	ENSP00000438198:C107S;ENSP00000441417:C177S;ENSP00000370526:C152S;ENSP00000406528:C152S	ENSP00000370526:C152S	C	-	2	0	ARSE	2877744	1.000000	0.71417	0.183000	0.23137	0.304000	0.27724	6.354000	0.73036	1.403000	0.46800	0.600000	0.82982	TGT		0.483	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047	
MXRA5	25878	broad.mit.edu	37	X	3235366	3235366	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:3235366C>T	ENST00000217939.6	-	6	6510	c.6356G>A	c.(6355-6357)cGc>cAc	p.R2119H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2119	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACTCATAGCGCCCGCTGTC	0.662																																						uc004crg.3																			0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6355-6357)CGC>CAC		adlican precursor							36.0	30.0	32.0					X																	3235366		2201	4299	6500	SO:0001583	missense	25878					extracellular region		g.chrX:3235366C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6356G>A	X.37:g.3235366C>T	ENSP00000217939:p.Arg2119His						p.R2119H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6513	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2119			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6356G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944382	0.53079	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67698	-0.28	3.63	1.36	0.22044	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.773939	0.10431	U	0.675565	T	0.66761	0.2822	L	0.52823	1.66	0.26078	N	0.981138	D	0.71674	0.998	P	0.62184	0.899	T	0.58329	-0.7655	10	0.13470	T	0.59	.	1.5692	0.02611	0.1536:0.3591:0.2881:0.1992	.	2119	Q9NR99	MXRA5_HUMAN	H	2119	ENSP00000217939:R2119H	ENSP00000217939:R2119H	R	-	2	0	MXRA5	3245366	0.058000	0.20735	0.996000	0.52242	0.962000	0.63368	-0.251000	0.08818	1.440000	0.47531	0.597000	0.82753	CGC		0.662	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MAGEB1	4112	broad.mit.edu	37	X	30269233	30269233	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:30269233T>C	ENST00000378981.3	+	4	944	c.623T>C	c.(622-624)aTc>aCc	p.I208T	MAGEB1_ENST00000397550.1_Missense_Mutation_p.I208T|MAGEB1_ENST00000397548.2_Missense_Mutation_p.I208T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	208	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGGGTGTGATCTTCTTAAAG	0.488																																						uc004dcc.2																			0					0						c.(622-624)ATC>ACC		melanoma antigen family B, 1							81.0	61.0	67.0					X																	30269233		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269233T>C		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.623T>C	X.37:g.30269233T>C	ENSP00000368264:p.Ile208Thr					MAGEB1_uc004dcd.2_Missense_Mutation_p.I208T|MAGEB1_uc004dce.2_Missense_Mutation_p.I208T	p.I208T	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	943	+			208			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.623T>C	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460925	0.63513	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.12672	2.66;2.66;2.66	3.76	3.76	0.43208	.	0.056718	0.64402	D	0.000002	T	0.47581	0.1453	H	0.98133	4.155	0.09310	N	0.999994	D	0.71674	0.998	D	0.67382	0.951	T	0.53294	-0.8459	10	0.87932	D	0	.	8.0484	0.30564	0.0:0.0:0.0:1.0	.	208	P43366	MAGB1_HUMAN	T	208	ENSP00000368264:I208T;ENSP00000380683:I208T;ENSP00000380681:I208T	ENSP00000368264:I208T	I	+	2	0	MAGEB1	30179154	1.000000	0.71417	0.216000	0.23742	0.633000	0.38033	3.181000	0.50903	1.716000	0.51395	0.486000	0.48141	ATC		0.488	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
FAM47A	158724	broad.mit.edu	37	X	34148878	34148878	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:34148878C>T	ENST00000346193.3	-	1	1569	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	506			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGAGCGGAGAC	0.652																																						uc004ddg.2																			0				ovary(4)|central_nervous_system(1)	5						c.(1516-1518)TCG>TCA		hypothetical protein LOC158724							29.0	29.0	29.0					X																	34148878		2181	4252	6433	SO:0001819	synonymous_variant	158724							g.chrX:34148878C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1518G>A	X.37:g.34148878C>T							p.S506S	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1551	-			506		Missing.			A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1518G>A	CCDS43926.1																																																																																				0.652	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
JADE3	9767	broad.mit.edu	37	X	46884151	46884151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:46884151G>A	ENST00000218343.4	+	5	608	c.310G>A	c.(310-312)Gtt>Att	p.V104I	PHF16_ENST00000397189.1_Missense_Mutation_p.V104I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGTAAAGGACGTTCTGTTTAT	0.448																																						uc004dgx.2																			0					0						c.(310-312)GTT>ATT		PHD finger protein 16							92.0	77.0	82.0					X																	46884151		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46884151G>A																												ENST00000218343.4:c.310G>A	X.37:g.46884151G>A	ENSP00000218343:p.Val104Ile					PHF16_uc004dgy.2_Missense_Mutation_p.V104I	p.V104I	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			5	361	+			104						Missense_Mutation	SNP	ENST00000218343.4	37	c.310G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	6.107	0.388001	0.11581	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.79	1.02	0.19986	Enhancer of polycomb-like, N-terminal (1);	0.501056	0.21334	N	0.076250	T	0.37073	0.0990	M	0.61703	1.905	0.22096	N	0.999366	B	0.11235	0.004	B	0.10450	0.005	T	0.29058	-1.0024	10	0.36615	T	0.2	.	9.9661	0.41725	0.3467:0.0:0.6533:0.0	.	104	Q92613	JADE3_HUMAN	I	104	ENSP00000391009:V104I;ENSP00000380373:V104I;ENSP00000218343:V104I;ENSP00000400584:V104I	ENSP00000218343:V104I	V	+	1	0	PHF16	46769095	0.353000	0.24904	0.000000	0.03702	0.185000	0.23345	0.765000	0.26546	0.000000	0.14550	-0.268000	0.10319	GTT		0.448	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1		
RBM10	8241	broad.mit.edu	37	X	47041361	47041361	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:47041361G>A	ENST00000377604.3	+	16	2447	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I	RBM10_ENST00000329236.7_Missense_Mutation_p.V491I|RBM10_ENST00000345781.6_Missense_Mutation_p.V492I	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	569	Tyr-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTTCCCGACGTCTCTACCTA	0.577																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2																			0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(1705-1707)GTC>ATC		RNA binding motif protein 10 isoform 1							102.0	83.0	89.0					X																	47041361		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47041361G>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1705G>A	X.37:g.47041361G>A	ENSP00000366829:p.Val569Ile					RBM10_uc004dhg.2_Missense_Mutation_p.V491I|RBM10_uc004dhh.2_Missense_Mutation_p.V568I|RBM10_uc010nhq.2_Missense_Mutation_p.V492I|RBM10_uc004dhi.2_Missense_Mutation_p.V634I	p.V569I	NM_005676	NP_005667	P98175	RBM10_HUMAN			16	2084	+			569			Tyr-rich.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.1705G>A	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832258	0.50845	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20463	2.73;2.07;2.33	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.50333	1.59	0.27069	N	0.963378	D;D;D;D;D	0.76494	0.999;0.988;0.997;0.999;0.973	D;P;P;D;B	0.76071	0.97;0.614;0.8;0.987;0.432	T	0.18053	-1.0349	10	0.62326	D	0.03	-28.7291	9.2422	0.37504	0.101:0.0:0.899:0.0	.	492;634;568;491;569	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	I	569;491;492	ENSP00000366829:V569I;ENSP00000328848:V491I;ENSP00000329659:V492I	ENSP00000328848:V491I	V	+	1	0	RBM10	46926305	0.322000	0.24634	0.991000	0.47740	0.615000	0.37417	1.828000	0.39111	2.347000	0.79759	0.525000	0.51046	GTC		0.577	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
ARL13A	392509	broad.mit.edu	37	X	100240808	100240808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100240808G>A	ENST00000450049.2	+	4	396	c.283G>A	c.(283-285)Gtc>Atc	p.V95I		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	95					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468																																						uc004ego.2																			0				ovary(1)	1						c.(283-285)GTC>ATC		ADP-ribosylation factor-like 13 isoform a							93.0	87.0	89.0					X																	100240808		1950	4142	6092	SO:0001583	missense	392509						GTP binding	g.chrX:100240808G>A		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.283G>A	X.37:g.100240808G>A	ENSP00000398637:p.Val95Ile					ARL13A_uc011mrf.1_Missense_Mutation_p.V95I|ARL13A_uc010nng.2_Missense_Mutation_p.V95I	p.V95I	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN			4	399	+			95					B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	c.283G>A	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281331	0.59758	.	.	ENSG00000174225	ENST00000450049	D	0.88975	-2.45	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.93906	0.8050	M	0.82193	2.58	0.41319	D	0.987168	D;D	0.89917	1.0;1.0	D;D	0.76071	0.981;0.987	D	0.94318	0.7551	10	0.87932	D	0	.	11.6418	0.51237	0.0:0.0:1.0:0.0	.	95;95	B2RTT6;Q5H913	.;AR13A_HUMAN	I	95	ENSP00000398637:V95I	ENSP00000398637:V95I	V	+	1	0	ARL13A	100127464	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.353000	0.59411	2.522000	0.85027	0.594000	0.82650	GTC		0.468	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358	
HNRNPH2	3188	broad.mit.edu	37	X	100667805	100667805	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100667805G>A	ENST00000316594.5	+	2	907	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	277	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TCATAGATACGGAGATGGTGG	0.428																																						uc004ehm.2																			0					0						c.(829-831)GGA>AGA		heterogeneous nuclear ribonucleoprotein H2							79.0	71.0	74.0					X																	100667805		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667805G>A	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.829G>A	X.37:g.100667805G>A	ENSP00000361927:p.Gly277Arg					HNRNPH2_uc004ehn.2_Missense_Mutation_p.G277R	p.G277R	NM_019597	NP_062543	P55795	HNRH2_HUMAN			2	999	+			277			2 X 16 AA Gly-rich approximate repeats.		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.829G>A	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154416	0.57259	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.32753	1.44	4.76	4.76	0.60689	Zinc finger, CHHC-type (1);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	L	0.34521	1.04	0.80722	D	1	P	0.48162	0.906	P	0.55577	0.779	T	0.22312	-1.0220	10	0.72032	D	0.01	-10.8902	14.3159	0.66450	0.0:0.0:1.0:0.0	.	277	P55795	HNRH2_HUMAN	R	232;277	ENSP00000361927:G277R	ENSP00000361927:G277R	G	+	1	0	HNRNPH2	100554461	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.562000	0.98145	2.345000	0.79718	0.513000	0.50165	GGA		0.428	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597	
SLC6A14	11254	broad.mit.edu	37	X	115586616	115586616	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:115586616C>T	ENST00000371900.4	+	12	1686	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	533					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T533M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTGTAATTACGCCTATCCTT	0.348																																						uc004eqi.2																			1	Substitution - Missense(1)		breast(1)	ovary(2)|pancreas(1)	3						c.(1597-1599)ACG>ATG		solute carrier family 6 (amino acid	L-Proline(DB00172)						205.0	173.0	184.0					X																	115586616		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115586616C>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1598C>T	X.37:g.115586616C>T	ENSP00000360967:p.Thr533Met						p.T533M	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			12	1702	+			533			Helical; Name=11; (Potential).		Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1598C>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711447	0.30322	.	.	ENSG00000087916	ENST00000371900	T	0.76448	-1.02	5.31	5.31	0.75309	.	0.049263	0.85682	D	0.000000	D	0.90988	0.7166	H	0.94222	3.51	0.45318	D	0.998314	D	0.89917	1.0	D	0.72338	0.977	D	0.93446	0.6798	10	0.87932	D	0	.	15.3116	0.74039	0.0:1.0:0.0:0.0	.	533	Q9UN76	S6A14_HUMAN	M	533	ENSP00000360967:T533M	ENSP00000360967:T533M	T	+	2	0	SLC6A14	115500644	0.998000	0.40836	0.289000	0.24876	0.025000	0.11179	3.754000	0.55189	2.207000	0.71202	0.415000	0.27848	ACG		0.348	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		
RHOXF1	158800	broad.mit.edu	37	X	119249400	119249400	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:119249400T>A	ENST00000217999.2	-	1	447	c.373A>T	c.(373-375)Act>Tct	p.T125S	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	125					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGGTATTGAGTGTGTCGGAAA	0.577																																						uc004esk.1																			0					0						c.(373-375)ACT>TCT		Rhox homeobox family, member 1							70.0	60.0	63.0					X																	119249400		2203	4296	6499	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249400T>A		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.373A>T	X.37:g.119249400T>A	ENSP00000217999:p.Thr125Ser					uc004esi.1_Intron	p.T125S	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN			1	448	-			125			Homeobox.		O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.373A>T	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	t	10.62	1.401803	0.25291	.	.	ENSG00000101883	ENST00000217999	D	0.95518	-3.73	2.67	2.67	0.31697	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.93897	0.8047	L	0.33093	0.98	0.09310	N	1	D	0.63046	0.992	P	0.60068	0.868	D	0.86114	0.1564	9	0.25106	T	0.35	-20.1221	6.3616	0.21431	0.0:0.0:0.0:1.0	.	125	Q8NHV9	RHXF1_HUMAN	S	125	ENSP00000217999:T125S	ENSP00000217999:T125S	T	-	1	0	RHOXF1	119133428	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	0.075000	0.14686	1.298000	0.44778	0.414000	0.27820	ACT		0.577	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282	
IRAK1	3654	broad.mit.edu	37	X	153283486	153283486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:153283486C>T	ENST00000369980.3	-	7	1047	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393682.1_Missense_Mutation_p.G320S|IRAK1_ENST00000393687.2_Missense_Mutation_p.G294S|IRAK1_ENST00000369974.2_Missense_Mutation_p.G294S|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Missense_Mutation_p.G320S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGGAGCCGTTGGGCAGG	0.612																																						uc004fjs.1																			0				lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(880-882)GGC>AGC		interleukin-1 receptor-associated kinase 1							98.0	75.0	83.0					X																	153283486		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153283486C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.880G>A	X.37:g.153283486C>T	ENSP00000358997:p.Gly294Ser					IRAK1_uc004fjr.1_Missense_Mutation_p.G294S|IRAK1_uc004fjt.1_Missense_Mutation_p.G294S|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.G320S	p.G294S	NM_001569	NP_001560	P51617	IRAK1_HUMAN			7	959	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		294			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.880G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	26.3|26.3	4.728172|4.728172	0.89390|0.89390	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	T;D;D;T;T|.	0.96265|.	0.64;-3.96;-3.96;0.64;0.64|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.110783|.	0.40554|.	N|.	0.001070|.	T|T	0.78310|0.78310	0.4263|0.4263	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.71674|.	0.998;0.998;0.997|.	P;D;P|.	0.63877|.	0.87;0.919;0.868|.	T|T	0.80799|0.80799	-0.1221|-0.1221	10|5	0.87932|.	D|.	0|.	-31.9292|-31.9292	16.3256|16.3256	0.82978|0.82978	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294;294;294|.	P51617-4;P51617;P51617-2|.	.;IRAK1_HUMAN;.|.	S|Q	294;294;320;294;320|64	ENSP00000358997:G294S;ENSP00000358991:G294S;ENSP00000377287:G320S;ENSP00000377291:G294S;ENSP00000392662:G320S|.	ENSP00000358991:G294S|.	G|R	-|-	1|2	0|0	IRAK1|IRAK1	152936680|152936680	0.995000|0.995000	0.38212|0.38212	0.891000|0.891000	0.34965|0.34965	0.716000|0.716000	0.41182|0.41182	3.140000|3.140000	0.50585|0.50585	2.107000|2.107000	0.64212|0.64212	0.529000|0.529000	0.55759|0.55759	GGC|CGG		0.612	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3		
