#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
EVX2	344191	broad.mit.edu	37	2	176945342	176945368	+	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENST00000308618.4	-	3	1034_1060	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	c.(898-924)gcagcctcaggcgcggcggccgcggctdel	p.AASGAAAAA300del		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	300	Poly-Ala.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGGGCGACGAAgccgcggccgccgcgcctgaggctgcagccgcggcc	0.731																																						ENST00000308618.4	1.000000	5.800000e-01	1.000000	0.760000	0.960000	0.905359	0.960000	1.000000																										0				16						c.(898-924)gcagcctcaggcgcggcggccgcggctdel		even-skipped homeobox 2																																				SO:0001651	inframe_deletion	344191	0	0					g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	chr2.hg19:g.176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENSP00000312385:p.Ala300_Ala308del	0						p.AASGAAAAA300del	NM_001080458.1	NP_001073927.1	0	0	0	2.048692	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	3	1034_1060	-				In_Frame_Del	DEL	ENST00000308618.4	0	1	hg19	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	CCDS33333.1	1																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.731	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1	0	0	0		51			0		0	6	3		3	9	1	1.870000	-20.000000	1	0.630000				13	41		29	61	0		2			0		3			0.021576			0		0		13	29
GOT1	2805	broad.mit.edu	37	10	101166530	101166530	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101166530C>A	ENST00000370508.5	-	3	404	c.377G>T	c.(376-378)gGa>gTa	p.G126V	GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	126					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GTTGTTTGTTCCATTGTACCA	0.468																																					Melanoma(173;770 3544 21601)	ENST00000370508.5	1.000000	8.500000e-01	1.000000	0.960000	0.990000	0.985565	0.990000	1.000000																										0				16						c.(376-378)gGa>gTa		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)						208.0	157.0	174.0					10																	101166530		2203	4300	6503	SO:0001583	missense	2805	0	0					g.chr10:101166530C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.377G>T	chr10.hg19:g.101166530C>A	ENSP00000359539:p.Gly126Val	0					GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	p.G126V	NM_002079.2	NP_002070.1	1	2	3	2.112726	P17174	AATC_HUMAN		3	404	-		Ovarian(717;0.028)|Colorectal(252;0.234)	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	0	1	hg19	c.377G>T	CCDS7479.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596653	0.86953	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.20738	2.05;2.05	5.92	5.92	0.95590	5.92	5.92	0.95590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.33137	0.985	0.80722	D	1	B	0.25772	0.134	B	0.27608	0.081	T	0.05733	-1.0867	10	0.17369	T	0.5	-3.717	19.9135	0.97033	0.0:1.0:0.0:0.0	.	126	P17174	AATC_HUMAN	V	126;79;105	ENSP00000359539:G126V;ENSP00000445578:G105V	ENSP00000359539:G126V	G	-	2	0	0	GOT1	101156520	101156520	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	7.379000	0.79691	2.807000	0.96579	0.549000	0.68633	GGA	0.632316		TCGA-FB-AAQ6-01A-11D-A40W-08	0.468	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	0	0	1		2	2		0		0	0	49		49	47	1	1.870000	-20.000000	1	0.630000	NM_002079			52	52		100	99	0		1	1		0		49			1.000000	1		22		37		52	100
C10orf71	118461	broad.mit.edu	37	10	50532116	50532116	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:50532116G>A	ENST00000374144.3	+	3	1814	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	509										endometrium(1)	1						GTGCGGAAGCGTGTTAAGAGC	0.493																																						ENST00000374144.3	1.000000	7.100000e-01	1.000000	0.800000	0.910000	0.907731	0.910000	1.000000																										0				1						c.(1525-1527)cGt>cAt		chromosome 10 open reading frame 71							58.0	62.0	61.0					10																	50532116		2071	4202	6273	SO:0001583	missense	118461	7	121036	36				g.chr10:50532116G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1526G>A	chr10.hg19:g.50532116G>A	ENSP00000363259:p.Arg509His	0					C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H	p.R509H			1	2	3	2.112726	Q711Q0	CJ071_HUMAN		3	1814	+			A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	0	1	hg19	c.1526G>A	CCDS44387.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552873	0.86127	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.20881	2.04;3.13	5.48	4.57	0.56435	5.48	4.57	0.56435	.	0.401374	0.18493	N	0.139596	T	0.22244	0.0536	M	0.64997	1.995	0.42570	D	0.993178	P	0.46859	0.885	B	0.35688	0.208	T	0.10428	-1.0630	10	0.87932	D	0	.	14.0709	0.64858	0.0726:0.0:0.9274:0.0	.	509	Q711Q0-3	.	H	509	ENSP00000318713:R509H;ENSP00000363259:R509H	ENSP00000318713:R509H	R	+	2	0	0	C10orf71	50202122	50202122	0.918000	0.31147	0.862000	0.33874	0.940000	0.58332	3.531000	0.53546	1.320000	0.45209	0.586000	0.80456	CGT	0.632316		TCGA-FB-AAQ6-01A-11D-A40W-08	0.493	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	0	0	1		2	2		0		0	0	62		62	61	1	1.870000	-20.000000	1	0.630000	NM_199459			50	49		124	121	0		1			0		62			1.000000	0		0		0		50	124
CSTF2T	23283	broad.mit.edu	37	10	53458724	53458724	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:53458724G>T	ENST00000331173.4	-	1	631	c.586C>A	c.(586-588)Cat>Aat	p.H196N	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	196					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTGTGACATGTATCTTCCGA	0.512																																						ENST00000331173.4	1.000000	8.600000e-01	1.000000	0.940000	0.990000	0.980943	0.990000	1.000000																										0				30						c.(586-588)Cat>Aat		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							142.0	122.0	129.0					10																	53458724		2203	4300	6503	SO:0001583	missense	23283	0	0					g.chr10:53458724G>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.586C>A	chr10.hg19:g.53458724G>T	ENSP00000332444:p.His196Asn	0					PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	p.H196N	NM_015235.2	NP_056050.1	1	2	3	2.112726	Q9H0L4	CSTFT_HUMAN		1	631	-			B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	0	1	hg19	c.586C>A	CCDS7245.1	1	.	.	.	.	.	.	.	.	.	.	G	0.601	-0.829212	0.02734	.	.	ENSG00000177613	ENST00000331173	T	0.19669	2.13	5.1	4.13	0.48395	5.1	4.13	0.48395	.	0.669626	0.15530	N	0.257547	T	0.05410	0.0143	N	0.00583	-1.355	0.25045	N	0.991177	B	0.09022	0.002	B	0.01281	0.0	T	0.29397	-1.0013	10	0.09590	T	0.72	-4.1716	10.3859	0.44140	0.0:0.0:0.8051:0.1949	.	196	Q9H0L4	CSTFT_HUMAN	N	196	ENSP00000332444:H196N	ENSP00000332444:H196N	H	-	1	0	0	CSTF2T	53128730	53128730	0.160000	0.22878	0.948000	0.38648	0.987000	0.75469	1.930000	0.40124	2.824000	0.97209	0.655000	0.94253	CAT	0.632316		TCGA-FB-AAQ6-01A-11D-A40W-08	0.512	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	0	0	1		2	2		0		0	0	100		100	99	1	1.870000	-20.000000	1	0.630000	NM_015235			94	94		196	193	0		1	1		0		100			1.000000	9.980352e-01		15		8		94	196
ABCC2	1244	broad.mit.edu	37	10	101563916	101563916	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101563916A>G	ENST00000370449.4	+	10	1463	c.1350A>G	c.(1348-1350)ttA>ttG	p.L450L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	450	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGATTGTCTTATCTATCTTCT	0.463																																						ENST00000370449.4	0.710000	4.100000e-01	0.620000	0.470000	0.540000	0.551923	0.540000	0.540000																										0				67						c.(1348-1350)ttA>ttG		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)						233.0	193.0	206.0					10																	101563916		2203	4300	6503	SO:0001819	synonymous_variant	1244	0	0					g.chr10:101563916A>G	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1350A>G	chr10.hg19:g.101563916A>G		0						p.L450L	NM_000392.3	NP_000383	1	2	3	2.112726	Q92887	MRP2_HUMAN		10	1463	+		Colorectal(252;0.234)	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	0	1	hg19	c.1350A>G	CCDS7484.1	0																																																																																								0.632316		TCGA-FB-AAQ6-01A-11D-A40W-08	0.463	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	0	0	1		2	2		0		0	0	90		90	90	1	1.870000	-20.000000	1	0.630000	NM_000392			50	49		245	243	0		1			0		90			1.000000	0		0		0		50	245
C11orf87	399947	broad.mit.edu	37	11	109294680	109294680	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:109294680C>T	ENST00000327419.6	+	2	724	c.321C>T	c.(319-321)agC>agT	p.S107S	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	107						integral component of membrane (GO:0016021)		p.S107S(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						ATCACTGCAGCGGCAGCCGCG	0.642																																						ENST00000327419.6	0.970000	7.100000e-01	0.910000	0.770000	0.840000	0.846975	0.840000	0.850000																										1	Substitution - coding silent(1)	p.S107S(1)	large_intestine(1)	17						c.(319-321)agC>agT		chromosome 11 open reading frame 87							80.0	83.0	82.0					11																	109294680		2201	4298	6499	SO:0001819	synonymous_variant	399947	4	121394	41				g.chr11:109294680C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.321C>T	chr11.hg19:g.109294680C>T		0					RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	p.S107S	NM_207645.3	NP_997528.2	0	0	0	2.071234	Q6NUJ2	CK087_HUMAN		2	724	+			B4E169	Silent	SNP	ENST00000327419.6	0	1	hg19	c.321C>T	CCDS31672.1	0																																																																																								0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.642	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	0	0	1		2	2		0		0	0	135		135	118	1	1.870000	-20.000000	1	0.630000	NM_207645			116	93		317	277	0		1			0		135			1.000000	0		0		0		116	317
PCSK7	9159	broad.mit.edu	37	11	117079612	117079612	+	Splice_Site	SNP	C	C	T	rs145370185	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:117079612C>T	ENST00000320934.3	-	13	2322		c.e13+1		PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000540028.1_Splice_Site	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGTGTACATACGAGTCCATGC	0.582			T	IGH@	MLCLS								C|||	6	0.00119808	0.0008	0.0029	5008	,	,		28569	0.0		0.002	False		,,,				2504	0.001					ENST00000320934.3	0.890000	3.400000e-01	0.750000	0.450000	0.590000	0.607820	0.590000	0.580000				Dom	yes			Dom	yes		11	11q23.3	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7				L	L	IGH@		MLCLS		0				16						c.e13+1		proprotein convertase subtilisin/kexin type 7		C		2,4400	2.1+/-5.4	0,2,2199	33.0	36.0	35.0			4.6	1.0	11	dbSNP_134	35	17,8575	11.2+/-40.8	0,17,4279	no	splice-5	PCSK7	NM_004716.2		0,19,6478	TT,TC,CC		0.1979,0.0454,0.1462			117079612	19,12975	2201	4296	6497	SO:0001630	splice_region_variant	9159	170	121410	47				g.chr11:117079612C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1691+1G>A	chr11.hg19:g.117079612C>T		0					PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000540028.1_Splice_Site		NM_004716.2	NP_004707.2	0	0	0	2.071234	Q16549	PCSK7_HUMAN		13	2322	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Splice_Site	SNP	ENST00000320934.3	0	1	hg19		CCDS8382.1	0	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637607	0.29157	4.54E-4	0.001979	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	.	.	.	4.56	4.56	0.56223	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0225	0.58796	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	PCSK7	116584822	116584822	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	7.075000	0.76798	2.531000	0.85337	0.467000	0.42956	.	0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.582	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	0	0	1		2	2		0		0	0	19		19	19	1	1.870000	-2.816350	1	0.630000	NM_004716	Intron		13	13		57	57	0		1	0		0		19			0.999710	3.995434e-02		1		1		13	57
IGSF22	283284	broad.mit.edu	37	11	18738333	18738333	+	Silent	SNP	G	G	A	rs373454145	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:18738333G>A	ENST00000513874.1	-	10	1327	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	396										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGAACTCGCCGCTGTCACTGA	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21987	0.0		0.0	False		,,,				2504	0.0					ENST00000513874.1	0.610000	4.100000e-01	0.570000	0.450000	0.500000	0.515710	0.500000	0.510000																										0				56						c.(1186-1188)agC>agT		immunoglobulin superfamily, member 22		G		6,4028		0,6,2011	152.0	150.0	151.0		1188	-7.4	0.0	11		151	0,8358		0,0,4179	no	coding-synonymous	IGSF22	NM_173588.3		0,6,6190	AA,AG,GG		0.0,0.1487,0.0484		396/1327	18738333	6,12386	2017	4179	6196	SO:0001819	synonymous_variant	283284	20	120984	48				g.chr11:18738333G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1188C>T	chr11.hg19:g.18738333G>A		0					RP11-1081L13.4_ENST00000527285.1_RNA	p.S396S	NM_173588.3	NP_775859	0	0	0	2.071234	Q8N9C0	IGS22_HUMAN		10	1327	-			A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	0	1	hg19	c.1188C>T	CCDS41625.2	0																																																																																								0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.542	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	0	1		2	2		0		0	0	145		145	143	1	1.870000	-3.326447	1	0.630000	NM_173588			81	79		418	411	0		1			0		145			1.000000	0		0		0		81	418
MARK2	2011	broad.mit.edu	37	11	63665747	63665747	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:63665747A>G	ENST00000509502.2	+	4	696	c.233A>G	c.(232-234)aAc>aGc	p.N78S	MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000402010.2_Missense_Mutation_p.N111S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AATCATCCCAACATAGGTGAG	0.478																																						ENST00000509502.2	0.910000	7.000000e-01	0.860000	0.750000	0.800000	0.812325	0.800000	0.810000																										0				33						c.(232-234)aAc>aGc		MAP/microtubule affinity-regulating kinase 2							192.0	184.0	187.0					11																	63665747		2201	4297	6498	SO:0001583	missense	2011	0	0					g.chr11:63665747A>G	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.233A>G	chr11.hg19:g.63665747A>G	ENSP00000423974:p.Asn78Ser	0					MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000402010.2_Missense_Mutation_p.N111S|MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S	p.N78S	NM_017490.3	NP_059672.2	0	0	0	2.071234				4	696	+				Missense_Mutation	SNP	ENST00000509502.2	0	1	hg19	c.233A>G	CCDS41665.1	0	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683613	0.88639	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.17	5.17	0.71159	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.80508	2.5	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.998;0.939;0.999;1.0;0.987	D;P;P;D;D;P	0.87578	0.996;0.796;0.448;0.982;0.998;0.719	T	0.67677	-0.5609	10	0.87932	D	0	.	14.1235	0.65205	1.0:0.0:0.0:0.0	.	78;78;111;111;111;111	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	111;111;111;111;78;111;111;111;111;78;78;78;78;78;78	ENSP00000385751:N111S;ENSP00000326632:N111S;ENSP00000367040:N111S;ENSP00000389184:N111S;ENSP00000367041:N78S;ENSP00000425765:N111S;ENSP00000355091:N111S;ENSP00000294247:N111S;ENSP00000444956:N78S;ENSP00000437509:N78S;ENSP00000423974:N78S;ENSP00000421075:N78S;ENSP00000386128:N78S;ENSP00000415494:N78S	ENSP00000326632:N111S	N	+	2	0	0	MARK2	63422323	63422323	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.117000	0.94347	2.171000	0.68590	0.460000	0.39030	AAC	0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.478	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	0	0	1		2	2		0		0	0	229		229	228	1	1.870000	-20.000000	1	0.630000	NM_017490			174	171		503	498	0		1	1		0		229			1.000000	9.638870e-01		8		10		174	503
RNF169	254225	broad.mit.edu	37	11	74521280	74521280	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:74521280A>T	ENST00000299563.4	+	3	641	c.628A>T	c.(628-630)Aag>Tag	p.K210*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	210					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TCAAATCCACAAGCTGTTACC	0.348																																						ENST00000299563.4	0.080000	0	0.060000	0.010000	0.030000	0.044106	0.030000	0.040000																										0				15						c.(628-630)Aag>Tag		ring finger protein 169							108.0	102.0	104.0					11																	74521280		1810	4072	5882	SO:0001587	stop_gained	254225	0	0					g.chr11:74521280A>T	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.628A>T	chr11.hg19:g.74521280A>T	ENSP00000299563:p.Lys210*	0						p.K210*	NM_001098638.1	NP_001092108.1	0	0	0	2.071234	Q8NCN4	RN169_HUMAN		3	641	+			Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	0	1	hg19	c.628A>T	CCDS41691.1	0	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909386	0.92107	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.177649	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.116	12.7076	0.57070	1.0:0.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000299563:K210X	K	+	1	0	0	RNF169	74198928	74198928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.003000	0.63959	2.254000	0.74563	0.533000	0.62120	AAG	0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.348	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	0	0	1		2	2		0		0	0	206		206	206	1	1.870000	-3.144458	1	0.630000	XM_495886			5	5		419	414	0		1	0		0		206			0.935930	3.279782e-03		0		6		5	419
B3GAT1	27087	broad.mit.edu	37	11	134253672	134253672	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:134253672G>A	ENST00000524765.1	-	3	5067	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	175					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGCAGCCAGCGCAGGGCCAGG	0.682																																						ENST00000524765.1	0.930000	2.700000e-01	0.750000	0.400000	0.560000	0.582736	0.560000	0.550000																										0				19						c.(523-525)Cgc>Tgc		beta-1,3-glucuronyltransferase 1							30.0	25.0	27.0					11																	134253672		2197	4289	6486	SO:0001583	missense	27087	0	0					g.chr11:134253672G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.523C>T	chr11.hg19:g.134253672G>A	ENSP00000433847:p.Arg175Cys	0					B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C|B3GAT1_ENST00000531510.1_5'Flank	p.R175C			0	0	0	2.071234	Q9P2W7	B3GA1_HUMAN		3	5067	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	0	1	hg19	c.523C>T	CCDS8500.1	0	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765228	0.69878	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.74647	2.275	0.80722	D	1	B;B	0.24576	0.106;0.055	B;B	0.19666	0.015;0.026	T	0.63545	-0.6613	10	0.59425	D	0.04	-29.3285	14.2768	0.66184	0.0:0.0:0.815:0.185	.	188;175	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	175;175;175;188	ENSP00000376359:R175C;ENSP00000307875:R175C;ENSP00000433847:R175C;ENSP00000445983:R188C	ENSP00000307875:R175C	R	-	1	0	0	B3GAT1	133758882	133758882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	2.623000	0.88846	0.561000	0.74099	CGC	0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.682	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	0	0	1		2	2		0		0	0	10		10	10	1	1.870000	-16.214520	1	0.630000	NM_018644			8	8		38	34	0		1			0		10			0.987727	0		0		0		8	38
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	0.840000	5.100000e-01	0.760000	0.580000	0.660000	0.678396	0.660000	0.670000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	0	0	0	2.011783	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>T	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.615465		TCGA-FB-AAQ6-01A-11D-A40W-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	1		2	2		0		0	0	100		100	100	1	1.870000	-20.000000	1	0.630000	NM_033360			48	47		170	170	0		1	1		0		100			1.000000	8.133115e-01		8		5		48	170
KRT82	3888	broad.mit.edu	37	12	52793858	52793858	+	Missense_Mutation	SNP	C	C	T	rs529536223		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:52793858C>T	ENST00000257974.2	-	5	930	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	285	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.V285M(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATGCCGTCCACGTCCAGCTCC	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20645	0.0		0.0	False		,,,				2504	0.0					ENST00000257974.2	0.140000	2.000000e-02	0.110000	0.040000	0.060000	0.077596	0.060000	0.070000																										1	Substitution - Missense(1)	p.V285M(1)	large_intestine(1)	29						c.(853-855)Gtg>Atg		keratin 82							102.0	86.0	92.0					12																	52793858		2203	4300	6503	SO:0001583	missense	3888	9	121412	41				g.chr12:52793858C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.853G>A	chr12.hg19:g.52793858C>T	ENSP00000257974:p.Val285Met	0					RP3-416H24.4_ENST00000547174.1_RNA	p.V285M	NM_033033.3	NP_149022.3	0	0	0	2.011783	Q9NSB4	KRT82_HUMAN		5	930	-				Missense_Mutation	SNP	ENST00000257974.2	0	1	hg19	c.853G>A	CCDS8826.1	0	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181497	0.01633	.	.	ENSG00000161850	ENST00000257974	D	0.88586	-2.4	5.18	1.04	0.20106	5.18	1.04	0.20106	Filament (1);	0.532611	0.15770	N	0.245495	T	0.53916	0.1826	N	0.00186	-1.895	0.27603	N	0.948893	B	0.24533	0.105	B	0.21151	0.033	T	0.58393	-0.7644	10	0.10111	T	0.7	.	1.6566	0.02782	0.1103:0.3451:0.2299:0.3147	.	285	Q9NSB4	KRT82_HUMAN	M	285	ENSP00000257974:V285M	ENSP00000257974:V285M	V	-	1	0	0	KRT82	51080125	51080125	0.002000	0.14202	0.002000	0.10522	0.523000	0.34469	-0.851000	0.04313	0.300000	0.22699	0.561000	0.74099	GTG	0.615465		TCGA-FB-AAQ6-01A-11D-A40W-08	0.612	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	0	0	1		2	2		0		0	0	74		74	74	1	1.870000	-3.866182	1	0.630000	NM_033033			6	6		267	260	0		1			0		74			0.962547	0		0		0		6	267
C12orf66	144577	broad.mit.edu	37	12	64609707	64609707	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:64609707C>T	ENST00000398055.3	-	2	325	c.272G>A	c.(271-273)cGc>cAc	p.R91H	C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H|C12orf66_ENST00000311915.8_Missense_Mutation_p.R91H	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	91								p.R91H(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATAGATGGTGCGGATGGAATC	0.507																																						ENST00000398055.3	0.910000	4.800000e-01	0.800000	0.570000	0.680000	0.693802	0.680000	0.680000																										1	Substitution - Missense(1)	p.R91H(1)	central_nervous_system(1)	5						c.(271-273)cGc>cAc		chromosome 12 open reading frame 66							48.0	51.0	50.0					12																	64609707		1993	4161	6154	SO:0001583	missense	144577	1	120926	25				g.chr12:64609707C>T		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.272G>A	chr12.hg19:g.64609707C>T	ENSP00000381132:p.Arg91His	0					C12orf66_ENST00000311915.8_Missense_Mutation_p.R91H|C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H	p.R91H	NM_152440.4	NP_689653	0	0	0	2.011783	Q96MD2	CL066_HUMAN		2	325	-			C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	0	1	hg19	c.272G>A	CCDS41803.1	0	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605524	0.87157	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.42131	0.98;0.98;0.98	5.73	4.84	0.62591	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.98;0.999	P;D	0.64144	0.586;0.922	T	0.57631	-0.7778	9	.	.	.	-9.8646	14.7258	0.69343	0.0:0.9305:0.0:0.0695	.	38;91	F5H2Q3;Q96MD2	.;CL066_HUMAN	H	91;38;91	ENSP00000311486:R91H;ENSP00000445481:R38H;ENSP00000381132:R91H	.	R	-	2	0	0	C12orf66	62895974	62895974	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.518000	0.81795	1.428000	0.47296	0.491000	0.48974	CGC	0.615465		TCGA-FB-AAQ6-01A-11D-A40W-08	0.507	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	0	0	1		2	2		0		0	0	35		35	34	1	1.870000	-20.000000	1	0.630000	NM_152440			28	27		97	91	0		1	0		0		35			1.000000	5.351870e-02		0		2		28	97
KCNC2	3747	broad.mit.edu	37	12	75601178	75601178	+	Missense_Mutation	SNP	C	C	T	rs201721348		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:75601178C>T	ENST00000549446.1	-	2	1266	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T|KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	196					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCGAGCCCCGCCGCGTCCTCG	0.716																																						ENST00000549446.1	1.000000	4.900000e-01	1.000000	0.640000	0.820000	0.820462	0.820000	1.000000																										0				54						c.(586-588)Gcg>Acg		potassium voltage-gated channel, Shaw-related subfamily, member 2	Dalfampridine(DB06637)						9.0	9.0	9.0					12																	75601178		2158	4207	6365	SO:0001583	missense	3747	2	119846	36				g.chr12:75601178C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.586G>A	chr12.hg19:g.75601178C>T	ENSP00000449253:p.Ala196Thr	0					KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T	p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	0	0	0	2.011783	Q96PR1	KCNC2_HUMAN		2	1266	-			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	0	1	hg19	c.586G>A	CCDS9007.1	0	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621045	0.28889	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97328	-4.33;-4.33;-4.32;-4.33;-4.33;-4.32;-4.32;-4.34	4.44	2.54	0.30619	4.44	2.54	0.30619	.	.	.	.	.	D	0.92264	0.7546	N	0.08118	0	0.39638	D	0.970289	B;P;B;P;B	0.40332	0.403;0.551;0.411;0.713;0.051	B;B;B;P;B	0.46299	0.04;0.356;0.08;0.511;0.062	D	0.87929	0.2709	9	0.21540	T	0.41	.	9.6841	0.40087	0.1599:0.6863:0.1538:0.0	.	196;196;196;196;196	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	T	196	ENSP00000448301:A196T;ENSP00000449941:A196T;ENSP00000449253:A196T;ENSP00000340121:A196T;ENSP00000298972:A196T;ENSP00000319877:A196T;ENSP00000438423:A196T;ENSP00000376966:A196T	ENSP00000298972:A196T	A	-	1	0	0	KCNC2	73887445	73887445	0.222000	0.23652	0.681000	0.30009	0.804000	0.45430	1.796000	0.38794	0.557000	0.29117	-0.165000	0.13383	GCG	0.615465		TCGA-FB-AAQ6-01A-11D-A40W-08	0.716	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	0	0	0		2	2		0		0	0	8		8	7	1	1.870000	-20.000000	1	0.630000	NM_153748			13	13		35	33	0		1			0		8			0.999704	0		0		0		13	35
TRPM1	4308	broad.mit.edu	37	15	31334358	31334358	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:31334358C>A	ENST00000256552.6	-	17	2030	c.1883G>T	c.(1882-1884)aGt>aTt	p.S628I	TRPM1_ENST00000542188.1_Missense_Mutation_p.S645I|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGGAACCGACTCACGGCAGG	0.517																																						ENST00000256552.6	1.000000	8.100000e-01	1.000000	0.930000	0.990000	0.975902	0.990000	1.000000																										0				99						c.(1882-1884)aGt>aTt		transient receptor potential cation channel, subfamily M, member 1							67.0	75.0	72.0					15																	31334358		2168	4279	6447	SO:0001583	missense	4308	0	0					g.chr15:31334358C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1883G>T	chr15.hg19:g.31334358C>A	ENSP00000256552:p.Ser628Ile	0					TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I|TRPM1_ENST00000542188.1_Missense_Mutation_p.S645I|RP11-348B17.1_ENST00000561299.1_RNA	p.S628I	NM_001252024.1	NP_001238953.1	0	0	0	2.074389				17	2030	-		all_lung(180;1.92e-11)		Missense_Mutation	SNP	ENST00000256552.6	0	1	hg19	c.1883G>T	CCDS58346.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240885	0.79912	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.69926	-0.44;-0.44;-0.44	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.042793	0.85682	D	0.000000	T	0.62196	0.2408	L	0.40543	1.245	0.80722	D	1	B;P	0.34934	0.137;0.476	B;B	0.36186	0.219;0.157	T	0.67995	-0.5526	10	0.87932	D	0	-20.8878	18.0463	0.89334	0.0:1.0:0.0:0.0	.	600;606	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	606;645;628;606	ENSP00000380897:S606I;ENSP00000437849:S645I;ENSP00000256552:S628I	ENSP00000256552:S628I	S	-	2	0	0	TRPM1	29121650	29121650	1.000000	0.71417	0.905000	0.35620	0.749000	0.42624	7.743000	0.85020	2.304000	0.77564	0.655000	0.94253	AGT	0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	0	0	1		2	2		0		0	0	37		37	37	1	1.870000	-20.000000	1	0.630000	NM_002420			42	40		82	80	0		1			0		37			1.000000	0		0		0		42	82
LCMT2	9836	broad.mit.edu	37	15	43621570	43621570	+	Missense_Mutation	SNP	G	G	C	rs371016069		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:43621570G>C	ENST00000305641.5	-	1	1233	c.1118C>G	c.(1117-1119)gCa>gGa	p.A373G	ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	373					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AAATCCTCCTGCACTGAGAAT	0.547																																						ENST00000305641.5	1.000000	8.300000e-01	1.000000	0.920000	0.990000	0.975003	0.990000	1.000000																										0				20						c.(1117-1119)gCa>gGa		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						54.0	53.0	53.0					15																	43621570		2201	4299	6500	SO:0001583	missense	9836	0	0					g.chr15:43621570G>C	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1118C>G	chr15.hg19:g.43621570G>C	ENSP00000307214:p.Ala373Gly	0					LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank	p.A373G	NM_014793.4	NP_055608.2	0	0	0	2.091669	O60294	TYW4_HUMAN		1	1233	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	0	1	hg19	c.1118C>G	CCDS10094.1	1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998347	0.35226	.	.	ENSG00000168806	ENST00000305641	T	0.74526	-0.85	5.54	4.62	0.57501	5.54	4.62	0.57501	.	0.176134	0.48767	D	0.000180	T	0.64821	0.2633	L	0.47716	1.5	0.31690	N	0.642009	B	0.28128	0.201	B	0.27608	0.081	T	0.65001	-0.6274	10	0.23302	T	0.38	-14.2982	10.1028	0.42515	0.0895:0.0:0.9105:0.0	.	373	O60294	LCMT2_HUMAN	G	373	ENSP00000307214:A373G	ENSP00000307214:A373G	A	-	2	0	0	LCMT2	41408862	41408862	0.163000	0.22920	0.377000	0.26055	0.889000	0.51656	2.230000	0.42999	1.573000	0.49748	0.655000	0.94253	GCA	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.547	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	0	0	1		2	2		0		0	0	53		53	52	1	1.870000	-20.000000	1	0.630000	NM_014793			69	68		143	142	0		1	0		0		53			1.000000	0		0		1		69	143
CHRNB4	1143	broad.mit.edu	37	15	78921685	78921685	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78921685T>G	ENST00000261751.3	-	5	1073	c.962A>C	c.(961-963)cAc>cCc	p.H321P	CHRNB4_ENST00000560511.1_5'Flank|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	321					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGGCGAGCGGTGGTGCACATT	0.607																																						ENST00000261751.3	1.000000	7.400000e-01	1.000000	0.830000	0.920000	0.921619	0.920000	1.000000																										0				22						c.(961-963)cAc>cCc		cholinergic receptor, nicotinic, beta 4 (neuronal)	Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)						105.0	91.0	96.0					15																	78921685		2196	4293	6489	SO:0001583	missense	1143	0	0					g.chr15:78921685T>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.962A>C	chr15.hg19:g.78921685T>G	ENSP00000261751:p.His321Pro	0					RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	p.H321P	NM_000750.3	NP_000741.1	0	0	0	2.091669	P30926	ACHB4_HUMAN		5	1073	-			A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	0	1	hg19	c.962A>C	CCDS10306.1	1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366726	0.82463	.	.	ENSG00000117971	ENST00000261751	T	0.72282	-0.64	5.57	5.57	0.84162	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93552	0.6887	10	0.72032	D	0.01	.	15.3749	0.74596	0.0:0.0:0.0:1.0	.	321	P30926	ACHB4_HUMAN	P	321	ENSP00000261751:H321P	ENSP00000261751:H321P	H	-	2	0	0	CHRNB4	76708740	76708740	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.987000	0.88182	2.130000	0.65690	0.533000	0.62120	CAC	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.607	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	0	0	1		2	2		0		0	0	69		69	68	1	1.870000	-20.000000	1	0.630000				65	62		156	156	0		1			0		69			1.000000	0		0		0		65	156
ALPK3	57538	broad.mit.edu	37	15	85384098	85384098	+	Silent	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	732					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCCTGCCCGGCGGAGACA	0.647																																						ENST00000258888.5	1.000000	8.300000e-01	1.000000	0.940000	0.990000	0.979104	0.990000	1.000000																										0				81						c.(2194-2196)Cgg>Agg		alpha-kinase 3							29.0	34.0	32.0					15																	85384098		2203	4299	6502	SO:0001819	synonymous_variant	57538	0	0					g.chr15:85384098C>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2194C>A	chr15.hg19:g.85384098C>A		0						p.R732R	NM_020778.4	NP_065829.3	0	0	0	2.091669	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)	5	2361	+			Q9P2L6	Silent	SNP	ENST00000258888.5	0	1	hg19	c.2194C>A	CCDS10333.1	1																																																																																								0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	0	0	1		2	2		0		0	0	34		34	33	1	1.870000	-7.678165	1	0.630000	NM_020778			57	58		114	111	0		1			0		34			1.000000	0		0		0		57	114
ATF7IP2	80063	broad.mit.edu	37	16	10524582	10524582	+	Silent	SNP	T	T	C	rs187860514		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:10524582T>C	ENST00000396560.2	+	3	332	c.105T>C	c.(103-105)gtT>gtC	p.V35V	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000324570.5_Silent_p.V35V|ATF7IP2_ENST00000356427.2_Silent_p.V35V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CAAGGAATGTTGAAGCGCTGA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		17610	0.0		0.001	False		,,,				2504	0.0					ENST00000396560.2	1.000000	8.100000e-01	1.000000	0.890000	0.970000	0.958115	0.970000	1.000000																										0				3						c.(103-105)gtT>gtC		activating transcription factor 7 interacting protein 2							82.0	77.0	78.0					16																	10524582		2197	4300	6497	SO:0001819	synonymous_variant	80063	0	0					g.chr16:10524582T>C	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.105T>C	chr16.hg19:g.10524582T>C		0					ATF7IP2_ENST00000356427.2_Silent_p.V35V|ATF7IP2_ENST00000324570.5_Silent_p.V35V|ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000543967.1_Intron	p.V35V	NM_024997.3	NP_079273.2	1	2	3	2.104910	Q5U623	MCAF2_HUMAN		3	332	+			B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	0	1	hg19	c.105T>C	CCDS10540.1	1																																																																																								0.631162		TCGA-FB-AAQ6-01A-11D-A40W-08	0.413	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	0	0	1		2	2		0		0	0	98		98	97	1	1.870000	-20.000000	1	0.630000	NM_024997			89	88		199	196	0		1	0		0		98			1.000000	0		0		1		89	199
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	rs368249657		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6	0.080000	1.000000e-02	0.060000	0.020000	0.030000	0.044969	0.030000	0.040000																										0				31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56.0	59.0	58.0					17																	4712837		2203	4300	6503	SO:0001583	missense	5338	1	121412	36				g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	chr17.hg19:g.4712837G>A	ENSP00000263088:p.Arg202His	1					RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	0	1	1	1.473699	O14939	PLD2_HUMAN		7	736	+			I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	0	1	hg19	c.605G>A	CCDS11057.1	0	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	0	PLD2	4659801	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC	0.474357		TCGA-FB-AAQ6-01A-11D-A40W-08	0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	0	0	1		2	2		0		0	0	144		144	144	1	1.870000	-2.032427	0	0.630000	NM_002663			5	6		290	285	0		1	0		0		144			0.935801	9.115596e-03		0		7		5	290
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	0.570000	3.100000e-01	0.510000	0.370000	0.430000	0.442560	0.430000	0.440000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	7	121412	38	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	chr17.hg19:g.7577538C>T	ENSP00000269305:p.Arg248Gln	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	1	1	1.466783	P04637	P53_HUMAN		7	932	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	0	1	hg19	c.743G>A	CCDS11118.1	0	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	0	TP53	7518263	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	0.469610		TCGA-FB-AAQ6-01A-11D-A40W-08	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	1		2	2		0		0	0	79		79	78	1	1.870000	-2.879491	1	0.630000	NM_000546			34	34		138	137	0		1	1		0		79			1.000000	9.753028e-01		11		16		34	138
MED1	5469	broad.mit.edu	37	17	37564572	37564572	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:37564572G>A	ENST00000300651.6	-	17	4125	c.3902C>T	c.(3901-3903)cCg>cTg	p.P1301L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGTCAAGGACGGCTTCTTGTT	0.522										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6	1.000000	8.000000e-01	1.000000	0.870000	0.950000	0.945571	0.950000	1.000000																										0				59						c.(3901-3903)cCg>cTg		mediator complex subunit 1							62.0	69.0	67.0					17																	37564572		2203	4300	6503	SO:0001583	missense	5469	2	121412	34				g.chr17:37564572G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3902C>T	chr17.hg19:g.37564572G>A	ENSP00000300651:p.Pro1301Leu	0	HNSCC(31;0.082)				CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	p.P1301L	NM_004774.3	NP_004765.2	1	2	3	2.138624	O95243	MBD4_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	17	4125	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	0	1	hg19	c.3902C>T	CCDS11336.1	1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808847	0.70797	.	.	ENSG00000125686	ENST00000300651	T	0.56275	0.47	5.07	5.07	0.68467	5.07	5.07	0.68467	.	.	.	.	.	T	0.62146	0.2404	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66618	-0.5878	9	0.87932	D	0	-5.6283	19.0071	0.92856	0.0:0.0:1.0:0.0	.	1301	Q15648	MED1_HUMAN	L	1301	ENSP00000300651:P1301L	ENSP00000300651:P1301L	P	-	2	0	0	MED1	34818098	34818098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.290000	0.96065	2.793000	0.96121	0.563000	0.77884	CCG	0.634604		TCGA-FB-AAQ6-01A-11D-A40W-08	0.522	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	0	0	1		2	2		0		0	0	119		119	116	1	1.870000	-7.928147	1	0.630000	NM_004774			101	101		238	233	0		1	1		0		119			1.000000	7.972502e-01		3		6		101	238
SMAD4	4089	broad.mit.edu	37	18	48591891	48591892	+	Missense_Mutation	DNP	GG	GG	TT	rs121912581|rs377767345		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591891_48591892GG>TT	ENST00000342988.3	+	9	1592_1593	c.1054_1055GG>TT	c.(1054-1056)GGa>TTa	p.G352L	SMAD4_ENST00000588745.1_Missense_Mutation_p.G256L|SMAD4_ENST00000398417.2_Missense_Mutation_p.G352L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> R (in JP/HHT and JPS; dbSNP:rs121912581). {ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACTGTTGATGGATACGTGGAC	0.441																																						ENST00000342988.3	0.930000|0.950000	6.900000e-01|7.100000e-01	0.880000|0.900000	0.750000|0.770000	0.810000|0.830000	0.820954|0.837827	0.810000|0.830000	0.820000|0.840000																										38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454	GRCh37	CM024126	SMAD4	M	rs121912581	c.(1054-1056)Gga>Tga|c.(1054-1056)gGa>gTa		SMAD family member 4																																				SO:0001583	missense	4089	0	0					g.chr18:48591891G>T|g.chr18:48591892G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	Exception_encountered	chr18.hg19:g.48591891_48591892delinsTT	ENSP00000341551:p.Gly352Leu	1					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*|SMAD4_ENST00000588745.1_Missense_Mutation_p.G256V|SMAD4_ENST00000398417.2_Missense_Mutation_p.G352V	p.G352*|p.G352V	NM_005359.5	NP_005350.1	0	1	1	1.460212	Q13485	SMAD4_HUMAN		9	1592|1593	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000342988.3	0	1	hg19	c.1054G>T|c.1055G>T	CCDS11950.1	0																									5.86	5.86|4.99	0.93980|0.66335																																												0			46845889|46845890														0.459854		TCGA-FB-AAQ6-01A-11D-A40W-08	0.441	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	1		2	2		0		0	0	163		165|163	165|163	1	1.870000	-14.850890|-20.000000	1	0.630000	NM_005359			112|114	111|113		184|181	184|181	0		1	1		0		165|163			1.000000	9.077216e-01|9.153421e-01		2		7		112	181
GNA15	2769	broad.mit.edu	37	19	3162865	3162865	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:3162865G>A	ENST00000262958.3	+	7	1231	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	325					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGGGTGCGTGGACGGCCCCGA	0.597											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262958.3	1.000000	8.100000e-01	1.000000	0.900000	0.990000	0.963938	0.990000	1.000000																										0				18						c.(973-975)Gac>Aac		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							102.0	78.0	86.0					19																	3162865		2203	4300	6503	SO:0001583	missense	2769	0	0					g.chr19:3162865G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.973G>A	chr19.hg19:g.3162865G>A	ENSP00000262958:p.Asp325Asn	0		OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609		p.D325N	NM_002068.2	NP_002059.2	0	0	0	2.047941	P30679	GNA15_HUMAN		7	1231	+		Hepatocellular(1079;0.137)	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	0	1	hg19	c.973G>A	CCDS12104.1	1	.	.	.	.	.	.	.	.	.	.	g	9.418	1.082262	0.20309	.	.	ENSG00000060558	ENST00000262958	D	0.88509	-2.39	3.67	2.6	0.31112	3.67	2.6	0.31112	.	0.720175	0.11882	N	0.520430	T	0.80919	0.4716	N	0.14661	0.345	0.09310	N	1	B	0.30542	0.284	B	0.33568	0.166	T	0.71797	-0.4484	10	0.59425	D	0.04	.	10.6388	0.45582	0.0:0.1971:0.8029:0.0	.	325	P30679	GNA15_HUMAN	N	325	ENSP00000262958:D325N	ENSP00000262958:D325N	D	+	1	0	0	GNA15	3113865	3113865	0.109000	0.22037	0.004000	0.12327	0.002000	0.02628	3.225000	0.51246	0.722000	0.32252	0.561000	0.74099	GAC	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.597	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	0	0	1		2	2		0		0	0	61		61	61	1	1.870000	-20.000000	1	0.630000	NM_002068			76	75		162	156	0		1	1		0		61			1.000000	9.999994e-01		21		29		76	162
MYO9B	4650	broad.mit.edu	37	19	17295729	17295729	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:17295729G>A	ENST00000594824.1	+	17	2576	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	MYO9B_ENST00000595618.1_Missense_Mutation_p.R810H|MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H			Q13459	MYO9B_HUMAN	myosin IXB	810	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R810H(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCACGACCGCACCACCAAG	0.582																																						ENST00000594824.1	0.080000	0	0.060000	0.010000	0.030000	0.042996	0.030000	0.040000																										2	Substitution - Missense(2)	p.R810H(2)	endometrium(2)	39						c.(2428-2430)cGc>cAc		myosin IXB							127.0	140.0	135.0					19																	17295729		2138	4262	6400	SO:0001583	missense	4650	0	0					g.chr19:17295729G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2429G>A	chr19.hg19:g.17295729G>A	ENSP00000471367:p.Arg810His	0					MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H|MYO9B_ENST00000595618.1_Missense_Mutation_p.R810H	p.R810H			0	0	0	2.047941	Q13459	MYO9B_HUMAN		17	2576	+			O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	0	1	hg19	c.2429G>A		0	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871098	0.91587	.	.	ENSG00000099331	ENST00000397274	T	0.72835	-0.69	5.12	5.12	0.69794	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.53938	D	0.000056	D	0.84220	0.5424	M	0.77313	2.365	0.58432	D	0.999994	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.964;0.964;1.0	D	0.84405	0.0562	10	0.42905	T	0.14	.	17.579	0.87960	0.0:0.0:1.0:0.0	.	810;810;816	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	810	ENSP00000380444:R810H	ENSP00000380444:R810H	R	+	2	0	0	MYO9B	17156729	17156729	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	9.674000	0.98633	2.395000	0.81488	0.561000	0.74099	CGC	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0	0	1		2	2		0		0	0	121		121	118	1	1.870000	-2.375082	0	0.630000				5	5		427	421	0		1	0		0		121			0.935567	2.796942e-02		0		18		5	427
PRX	57716	broad.mit.edu	37	19	40901569	40901569	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:40901569C>T	ENST00000324001.7	-	7	2960	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	897					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGGGCACTCGGAAGCCCAC	0.612																																						ENST00000324001.7	0.920000	6.500000e-01	0.850000	0.710000	0.780000	0.788343	0.780000	0.790000																										0				47						c.(2689-2691)cGa>cAa		periaxin							47.0	56.0	53.0					19																	40901569		2203	4300	6503	SO:0001583	missense	57716	6	121410	39				g.chr19:40901569C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2690G>A	chr19.hg19:g.40901569C>T	ENSP00000326018:p.Arg897Gln	0					PRX_ENST00000291825.7_3'UTR	p.R897Q	NM_181882.2	NP_870998.2	0	0	0	2.047941	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)	7	2960	-			Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	0	1	hg19	c.2690G>A	CCDS33028.1	0	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931525	0.34096	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01099	5.34	5.3	4.21	0.49690	5.3	4.21	0.49690	.	0.354983	0.20353	N	0.094003	T	0.00724	0.0024	N	0.17082	0.46	0.37414	D	0.913344	B	0.33494	0.414	B	0.21360	0.034	T	0.64554	-0.6380	10	0.29301	T	0.29	-8.6739	4.1775	0.10358	0.0:0.6832:0.0:0.3168	.	897	Q9BXM0	PRAX_HUMAN	Q	897	ENSP00000326018:R897Q	ENSP00000326018:R897Q	R	-	2	0	0	PRX	45593409	45593409	0.000000	0.05858	0.928000	0.36995	0.979000	0.70002	0.904000	0.28491	2.496000	0.84212	0.650000	0.86243	CGA	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.612	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	0	0	1		2	2		0		0	0	108		108	107	1	1.870000	-5.000543	1	0.630000	NM_020956			99	98		296	293	0		1	0		0		108			1.000000	6.392162e-02		0		2		99	296
UHRF1	29128	broad.mit.edu	37	19	4910731	4910731	+	RNA	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:4910731C>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTGTCTGGTCCTGGCCAGGGT	0.502																																						ENST00000592666.1	1.000000	7.800000e-01	1.000000	0.980000	0.990000	0.981272	0.990000	1.000000																										0				16								ubiquitin-like with PHD and ring finger domains 1																																						29128	0	0					g.chr19:4910731C>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			chr19.hg19:g.4910731C>A		0									0	0	0	2.047941	Q96T88	UHRF1_HUMAN		0	566	+			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	0	1	hg19			1																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.502	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	0	0	1		2	2		0		0	0	10		10	10	1	1.870000	-20.000000	1	0.630000	NM_001048201			17	17		27	24	0		1			0		10			0.999987	0		0		0		17	27
XAB2	56949	broad.mit.edu	37	19	7686089	7686089	+	Missense_Mutation	SNP	C	C	T	rs373454646		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:7686089C>T	ENST00000358368.4	-	13	1749	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	571					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGCTTGCGGCCCCCATA	0.627								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4	0.210000	4.000000e-02	0.160000	0.060000	0.100000	0.115729	0.100000	0.100000																										0				26						c.(1711-1713)cGc>cAc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	29.0	31.0	31.0		1712	3.3	1.0	19		31	0,8598		0,0,4299	no	missense	XAB2	NM_020196.2	29	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	571/856	7686089	2,13002	2203	4299	6502	SO:0001583	missense	56949	5	121374	34				g.chr19:7686089C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1712G>A	chr19.hg19:g.7686089C>T	ENSP00000351137:p.Arg571His	0					XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	p.R571H	NM_020196.2	NP_064581.2	0	0	0	2.047941	Q9HCS7	SYF1_HUMAN		13	1749	-			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	0	1	hg19	c.1712G>A	CCDS32892.1	0	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190993	0.58017	4.54E-4	0.0	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03553	3.89;3.89	4.32	3.27	0.37495	4.32	3.27	0.37495	Tetratricopeptide-like helical (1);	0.079176	0.49305	D	0.000157	T	0.03136	0.0092	L	0.29908	0.895	0.35535	D	0.802571	P	0.43701	0.815	B	0.40165	0.321	T	0.51655	-0.8678	10	0.51188	T	0.08	-22.9882	6.2129	0.20640	0.0:0.7055:0.0:0.2945	.	571	Q9HCS7	SYF1_HUMAN	H	571;568	ENSP00000351137:R571H;ENSP00000438225:R568H	ENSP00000351137:R571H	R	-	2	0	0	XAB2	7592089	7592089	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.857000	0.39399	1.021000	0.39600	0.467000	0.42956	CGC	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.627	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	0	0	1		2	2		0		0	0	48		48	48	1	1.870000	-3.319989	1	0.630000	NM_020196			6	6		181	177	0		1	0		0		48			0.963339	6.000135e-01		0		58		6	181
MUC16	94025	broad.mit.edu	37	19	9064926	9064926	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9064926G>A	ENST00000397910.4	-	3	22723	c.22520C>T	c.(22519-22521)gCa>gTa	p.A7507V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7509	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTACCCATTGCCGATGTGGC	0.463																																						ENST00000397910.4	1.000000	7.600000e-01	0.980000	0.830000	0.900000	0.906613	0.900000	1.000000																										0				590						c.(22519-22521)gCa>gTa		mucin 16, cell surface associated							169.0	161.0	163.0					19																	9064926		1975	4151	6126	SO:0001583	missense	94025	0	0					g.chr19:9064926G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22520C>T	chr19.hg19:g.9064926G>A	ENSP00000381008:p.Ala7507Val	0						p.A7507V	NM_024690.2	NP_078966.2	0	0	0	2.047941	Q8WXI7	MUC16_HUMAN		3	22723	-			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	0	1	hg19	c.22520C>T	CCDS54212.1	1	.	.	.	.	.	.	.	.	.	.	N	7.534	0.659360	0.14645	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.91	0.462	0.16695	2.91	0.462	0.16695	.	.	.	.	.	T	0.09730	0.0239	N	0.08118	0	.	.	.	B	0.22146	0.065	B	0.19148	0.024	T	0.18241	-1.0343	8	0.87932	D	0	.	5.4895	0.16769	0.0:0.2195:0.5554:0.2251	.	7507	B5ME49	.	V	7507	ENSP00000381008:A7507V	ENSP00000381008:A7507V	A	-	2	0	0	MUC16	8925926	8925926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.221000	0.17680	0.201000	0.20466	0.508000	0.49915	GCA	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	1		2	2		0		0	0	117		117	116	1	1.870000	-20.000000	1	0.630000	NM_024690			107	105		262	255	0		1			0		117			1.000000	0		0		0		107	262
ZNF317	57693	broad.mit.edu	37	19	9271674	9271674	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9271674C>T	ENST00000247956.6	+	7	1658	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	ZNF317_ENST00000360385.3_Silent_p.C419C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCGATCTCTGCGGGAAAGCTT	0.547																																						ENST00000247956.6	0.980000	5.800000e-01	0.890000	0.670000	0.770000	0.784413	0.770000	0.780000																										0				27						c.(1351-1353)tgC>tgT		zinc finger protein 317							63.0	60.0	61.0					19																	9271674		2203	4300	6503	SO:0001819	synonymous_variant	57693	5	121412	38				g.chr19:9271674C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1353C>T	chr19.hg19:g.9271674C>T		0					ZNF317_ENST00000360385.3_Silent_p.C419C	p.C451C	NM_020933.4	NP_065984.3	0	0	0	2.047941	Q96PQ6	ZN317_HUMAN		7	1658	+			Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	0	1	hg19	c.1353C>T	CCDS12210.1	0																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	0	0	1		2	2		0		0	0	62		62	62	1	1.870000	-20.000000	1	0.630000	NM_020933			41	41		124	122	0		1	1		0		62			1.000000	7.478127e-01		3		7		41	124
PGLYRP1	8993	broad.mit.edu	37	19	46522861	46522861	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:46522861C>G	ENST00000008938.4	-	2	375	c.332G>C	c.(331-333)tGg>tCg	p.W111S	MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	111					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGTGAAGTTCCAGCCACGGCC	0.582																																						ENST00000008938.4	0.180000	2.000000e-02	0.130000	0.050000	0.080000	0.097147	0.080000	0.080000																										0				10						c.(331-333)tGg>tCg		peptidoglycan recognition protein 1							67.0	58.0	61.0					19																	46522861		2203	4300	6503	SO:0001583	missense	8993	0	0					g.chr19:46522861C>G	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.332G>C	chr19.hg19:g.46522861C>G	ENSP00000008938:p.Trp111Ser	0					CCDC61_ENST00000601763.1_Intron|MIR769_ENST00000390225.1_RNA	p.W111S	NM_005091.2	NP_005082.1	0	0	0	2.047941	O75594	PGRP1_HUMAN		2	375	-		all_neural(266;0.113)|Ovarian(192;0.127)	Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	0	1	hg19	c.332G>C	CCDS12680.1	0	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139492	0.37728	.	.	ENSG00000008438	ENST00000008938	T	0.49720	0.77	5.01	5.01	0.66863	5.01	5.01	0.66863	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.56097	D	0.000027	T	0.74921	0.3780	M	0.92268	3.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81551	-0.0881	10	0.87932	D	0	-27.3543	13.8728	0.63629	0.0:1.0:0.0:0.0	.	111	O75594	PGRP1_HUMAN	S	111	ENSP00000008938:W111S	ENSP00000008938:W111S	W	-	2	0	0	PGLYRP1	51214701	51214701	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	3.970000	0.56824	2.335000	0.79485	0.650000	0.86243	TGG	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.582	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	0	0	1		2	2		0		0	0	69		69	68	1	1.870000	-6.971575	1	0.630000	NM_005091			5	5		186	181	0		1			0		69			0.933934	0		0		0		5	186
SLC6A17	388662	broad.mit.edu	37	1	110738217	110738217	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:110738217G>A	ENST00000331565.4	+	10	1987	c.1502G>A	c.(1501-1503)tGt>tAt	p.C501Y		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	501					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTGGGCTGCTGTGTCTTTGCA	0.637																																						ENST00000331565.4	1.000000	8.900000e-01	1.000000	0.940000	0.970000	0.972366	0.970000	0.990000																										0				37						c.(1501-1503)tGt>tAt		solute carrier family 6 (neutral amino acid transporter), member 17							81.0	74.0	76.0					1																	110738217		2203	4300	6503	SO:0001583	missense	388662	0	0					g.chr1:110738217G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1502G>A	chr1.hg19:g.110738217G>A	ENSP00000330199:p.Cys501Tyr	1						p.C501Y	NM_001010898.2	NP_001010898.1	0	1	1	1.628727	Q9H1V8	S6A17_HUMAN		10	1987	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	0	1	hg19	c.1502G>A	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983175	0.93044	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.76186	-1.0	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94494	0.7704	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	501	Q9H1V8	S6A17_HUMAN	Y	501	ENSP00000330199:C501Y	ENSP00000330199:C501Y	C	+	2	0	0	SLC6A17	110539740	110539740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	TGT	0.459854		TCGA-FB-AAQ6-01A-11D-A40W-08	0.637	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	0	0	1		2	2		0		0	0	83		83	82	1	1.870000	-20.000000	1	0.630000	XM_371280			110	108		103	101	0		1	0		0		83			1.000000	0		0		1		110	103
SNX27	81609	broad.mit.edu	37	1	151634647	151634647	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:151634647C>T	ENST00000458013.2	+	5	927	c.807C>T	c.(805-807)taC>taT	p.Y269Y	SNX27_ENST00000368843.3_Silent_p.Y269Y|SNX27_ENST00000368838.1_Silent_p.Y176Y			Q96L92	SNX27_HUMAN	sorting nexin family member 27	269	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCAGAACTACAATGGTGTGT	0.418																																					Colon(46;291 966 40145 41237 41888)	ENST00000458013.2	1.000000	7.300000e-01	1.000000	0.840000	0.980000	0.938581	0.980000	1.000000																										0				5						c.(805-807)taC>taT		sorting nexin family member 27							93.0	79.0	84.0					1																	151634647		2203	4300	6503	SO:0001819	synonymous_variant	81609	0	0					g.chr1:151634647C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.807C>T	chr1.hg19:g.151634647C>T		1					SNX27_ENST00000368843.3_Silent_p.Y269Y|SNX27_ENST00000368838.1_Silent_p.Y176Y	p.Y269Y			2	4	6	2.868400	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)	5	927	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	0	1	hg19	c.807C>T		1																																																																																								0.731495		TCGA-FB-AAQ6-01A-11D-A40W-08	0.418	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	0	0	1		2	2		0		0	0	41		41	41	1	1.870000	-20.000000	1	0.630000	NM_030918			48	46		175	173	0		1	0		0		41			1.000000	5.444518e-01		0		7		48	175
GBA	2629	broad.mit.edu	37	1	155205555	155205555	+	Missense_Mutation	SNP	G	G	T	rs80356768		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:155205555G>T	ENST00000327247.5	-	10	1537	c.1305C>A	c.(1303-1305)aaC>aaA	p.N435K	GBA_ENST00000368373.3_Missense_Mutation_p.N435K|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000428024.3_Missense_Mutation_p.N348K|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000427500.3_Missense_Mutation_p.N386K|GBA_ENST00000536770.1_Missense_Mutation_p.N322K	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	435			N -> T (in GD1; mild). {ECO:0000269|PubMed:8889591}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TGTCGACAAAGTTACGCACCC	0.547									Gaucher disease type I																													ENST00000327247.5	1.000000	5.800000e-01	1.000000	0.700000	0.840000	0.848835	0.840000	1.000000																										0				26						c.(1303-1305)aaC>aaA		glucosidase, beta, acid	Velaglucerase alfa(DB06720)						141.0	109.0	120.0					1																	155205555		2203	4300	6503	SO:0001583	missense	2629	0	0		Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	g.chr1:155205555G>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1305C>A	chr1.hg19:g.155205555G>T	ENSP00000314508:p.Asn435Lys	1					GBA_ENST00000536770.1_Missense_Mutation_p.N322K|GBA_ENST00000427500.3_Missense_Mutation_p.N386K|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.N348K|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.N435K	p.N435K	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	2	4	6	2.868400	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	10	1537	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	0	1	hg19	c.1305C>A	CCDS1102.1	0	.	.	.	.	.	.	.	.	.	.	.	14.55	2.569455	0.45798	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75;-5.75	4.95	3.07	0.35406	4.95	3.07	0.35406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.99381	0.9782	M	0.93939	3.475	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.994	D	0.99748	1.1017	10	0.87932	D	0	.	9.7187	0.40289	0.247:0.0:0.753:0.0	.	386;322;435	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	K	386;348;435;435;322;392;420	ENSP00000402577:N386K;ENSP00000397986:N348K;ENSP00000357357:N435K;ENSP00000314508:N435K;ENSP00000445560:N322K	ENSP00000314508:N435K	N	-	3	2	2	GBA	153472179	153472179	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.486000	0.53215	0.379000	0.24794	-0.797000	0.03246	AAC	0.731495		TCGA-FB-AAQ6-01A-11D-A40W-08	0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	0	0	0		2	2		0		0	0	44		44	44	1	1.870000	-20.000000	1	0.630000	NM_000157			33	33		147	142	0		1	1		0		44			1.000000	1		42		113		33	147
CFAP45	25790	broad.mit.edu	37	1	159856380	159856380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:159856380G>A	ENST00000368099.4	-	6	752	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Nonsense_Mutation_p.Q145*	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCATCATCTGATCCAACCGC	0.483																																						ENST00000368099.4	1.000000	2.800000e-01	1.000000	0.320000	0.360000	0.487559	0.360000	0.350000																										0				26						c.(688-690)Cag>Tag									310.0	281.0	291.0					1																	159856380		2203	4300	6503	SO:0001587	stop_gained	0	0	0					g.chr1:159856380G>A																												ENST00000368099.4:c.688C>T	chr1.hg19:g.159856380G>A	ENSP00000357079:p.Gln230*	1					CCDC19_ENST00000426543.2_Nonsense_Mutation_p.Q145*|CCDC19_ENST00000476696.1_5'UTR	p.Q230*	NM_012337.2	NP_036469.2	2	4	6	2.868400			BRCA - Breast invasive adenocarcinoma(70;0.151)	6	752	-	all_hematologic(112;0.0597)			Nonsense_Mutation	SNP	ENST00000368099.4	0	1	hg19	c.688C>T	CCDS30914.1	0	.	.	.	.	.	.	.	.	.	.	G	38	6.842086	0.97877	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	.	.	.	5.51	4.57	0.56435	5.51	4.57	0.56435	.	0.368018	0.31519	N	0.007516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3392	13.8298	0.63373	0.0:0.1546:0.8454:0.0	.	.	.	.	X	230;145	.	.	Q	-	1	0	0	CCDC19	158123004	158123004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.719000	0.38011	1.273000	0.44346	0.563000	0.77884	CAG	0.731495		TCGA-FB-AAQ6-01A-11D-A40W-08	0.483	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1	0	0	1		2	2		0		0	0	297		297	296	1	1.870000	-19.990180	1	0.630000				106	105		1200	1188	0		1	0		0		297			1.000000	8.069359e-02		0		6		106	1200
C1orf110	339512	broad.mit.edu	37	1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502																																						ENST00000367910.1	1.000000	1.000000e-02	1.000000	0.030000	0.070000	0.257198	0.070000	0.060000																										0				12						c.(778-780)Cgg>Tgg		chromosome 1 open reading frame 110							84.0	82.0	82.0					1																	162824686		1883	4107	5990	SO:0001583	missense	339512	6	120816	41				g.chr1:162824686G>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.778C>T	chr1.hg19:g.162824686G>A	ENSP00000356886:p.Arg260Trp	1					C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	p.R260W	NM_178550.4	NP_848645.3	2	4	6	2.868400	Q86UF4	CA110_HUMAN		4	898	-			Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	0	1	hg19	c.778C>T	CCDS44269.1	0	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	2	C1orf110	161091310	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG	0.731495		TCGA-FB-AAQ6-01A-11D-A40W-08	0.502	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	0	0	1		2	2		0		0	0	100		100	99	1	1.870000	-2.907436	1	0.630000	NM_178550			5	5		370	367	0		1			0		100			0.936617	0		0		0		5	370
F5	2153	broad.mit.edu	37	1	169510549	169510549	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:169510549G>A	ENST00000367797.3	-	13	3980	c.3779C>T	c.(3778-3780)cCa>cTa	p.P1260L	F5_ENST00000367796.3_Missense_Mutation_p.P1265L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1260	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACTGAGTTCTGGAGAGAGGTT	0.512																																						ENST00000367797.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999999	0.990000	1.000000																										0				128						c.(3778-3780)cCa>cTa		coagulation factor V (proaccelerin, labile factor)	ART-123(DB05777)|Drotrecogin alfa(DB00055)						209.0	227.0	221.0					1																	169510549		2203	4300	6503	SO:0001583	missense	2153	0	0					g.chr1:169510549G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3779C>T	chr1.hg19:g.169510549G>A	ENSP00000356771:p.Pro1260Leu	1					F5_ENST00000367796.3_Missense_Mutation_p.P1265L	p.P1260L	NM_000130.4	NP_000121	2	4	6	2.868400	P12259	FA5_HUMAN		13	3980	-	all_hematologic(923;0.208)		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	0	1	hg19	c.3779C>T	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535336	0.45176	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.38722	1.12;1.12	4.76	1.72	0.24424	4.76	1.72	0.24424	.	.	.	.	.	T	0.21590	0.0520	M	0.70595	2.14	0.22366	N	0.999165	B	0.14805	0.011	B	0.14023	0.01	T	0.06516	-1.0822	8	0.59425	D	0.04	-2.6912	7.0922	0.25289	0.0846:0.0:0.6134:0.302	.	1260	P12259	FA5_HUMAN	L	1260;1265	ENSP00000356771:P1260L;ENSP00000356770:P1265L	ENSP00000356770:P1265L	P	-	2	0	0	F5	167777173	167777173	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	1.214000	0.32419	0.143000	0.18926	0.650000	0.86243	CCA	0.731495		TCGA-FB-AAQ6-01A-11D-A40W-08	0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	0	1		2	2		0		0	0	390		390	384	1	1.870000	-20.000000	1	0.630000	NM_000130			420	411		1142	1107	0		1	1		0		390			1.000000	9.985813e-01		8		21		420	1142
HMCN1	83872	broad.mit.edu	37	1	186017951	186017951	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:186017951A>T	ENST00000271588.4	+	42	6786	c.6557A>T	c.(6556-6558)aAc>aTc	p.N2186I	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2186	Ig-like C2-type 19.				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						ACTGAAAAAAACTACAATGTC	0.358																																						ENST00000271588.4	1.000000	2.300000e-01	1.000000	0.290000	0.350000	0.477647	0.350000	0.350000																										0				308						c.(6556-6558)aAc>aTc		hemicentin 1							94.0	96.0	95.0					1																	186017951		2203	4300	6503	SO:0001583	missense	83872	0	0					g.chr1:186017951A>T	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.6557A>T	chr1.hg19:g.186017951A>T	ENSP00000271588:p.Asn2186Ile	1					HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	p.N2186I	NM_031935.2	NP_114141.2	2	4	6	2.868400	Q96RW7	HMCN1_HUMAN		42	6786	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	0	1	hg19	c.6557A>T	CCDS30956.1	0	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600104	0.87055	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.26	5.26	0.73747	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.041576	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25890	0.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.70795	-0.4775	10	0.33141	T	0.24	.	15.4776	0.75497	1.0:0.0:0.0:0.0	.	2186	Q96RW7	HMCN1_HUMAN	I	2186	ENSP00000271588:N2186I;ENSP00000356462:N2186I	ENSP00000271588:N2186I	N	+	2	0	0	HMCN1	184284574	184284574	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	8.910000	0.92685	2.106000	0.64143	0.455000	0.32223	AAC	0.731495		TCGA-FB-AAQ6-01A-11D-A40W-08	0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	1		12	2		1		1	1	140		140	140	1	1.870000	-20.000000	1	0.630000	NM_031935			34	34		407	402	0		1			1		140			0.999773	0		0		0		34	407
ASPM	259266	broad.mit.edu	37	1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A	rs368693433		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393																																						ENST00000367409.4	1.000000	0	1.000000	0.010000	0.030000	0.234822	0.030000	0.030000																										0				165						c.(5848-5850)gCg>gTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	219.0	213.0	215.0		,5849	5.6	0.0	1		215	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,1950/3478	197072532	2,13004	2203	4300	6503	SO:0001583	missense	259266	3	121412	41				g.chr1:197072532G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5849C>T	chr1.hg19:g.197072532G>A	ENSP00000356379:p.Ala1950Val	1					ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.A1950V	NM_018136.4	NP_060606.3	2	4	6	2.892390	Q8IZT6	ASPM_HUMAN		18	6105	-			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	0	1	hg19	c.5849C>T	CCDS1389.1	0	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465838	0.43839	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.240301	0.35013	N	0.003508	T	0.73682	0.3618	M	0.88031	2.925	0.33688	D	0.61294	P	0.46512	0.879	B	0.40256	0.324	D	0.84790	0.0778	10	0.52906	T	0.07	.	11.2614	0.49085	0.0:0.2325:0.6416:0.1259	.	1950	Q8IZT6	ASPM_HUMAN	V	1950	ENSP00000356379:A1950V	ENSP00000356379:A1950V	A	-	2	0	0	ASPM	195339155	195339155	0.377000	0.25106	0.044000	0.18714	0.002000	0.02628	3.229000	0.51278	2.648000	0.89879	0.650000	0.86243	GCG	0.733928		TCGA-FB-AAQ6-01A-11D-A40W-08	0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	1		2	2		0		0	0	318		318	317	1	1.870000	-1.810236	0	0.630000	NM_018136			10	10		1205	1196	0		1	0		0		318			0.996752	8.890434e-05		0		2		10	1205
KLHL12	59349	broad.mit.edu	37	1	202864825	202864825	+	Silent	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:202864825A>T	ENST00000367261.3	-	8	1178	c.960T>A	c.(958-960)cgT>cgA	p.R320R	KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	320					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGCCACATAACGTCTCTTAC	0.483																																						ENST00000367261.3	1.000000	3.000000e-02	1.000000	0.060000	0.110000	0.296530	0.110000	0.100000																										0				14						c.(958-960)cgT>cgA		kelch-like family member 12							114.0	94.0	101.0					1																	202864825		2203	4300	6503	SO:0001819	synonymous_variant	59349	0	0					g.chr1:202864825A>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.960T>A	chr1.hg19:g.202864825A>T		1					KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	p.R320R	NM_021633.2	NP_067646.1	2	4	6	2.892390	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)	8	1178	-			A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	0	1	hg19	c.960T>A	CCDS1429.1	0																																																																																								0.733928		TCGA-FB-AAQ6-01A-11D-A40W-08	0.483	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	0	0	1		2	2		0		0	0	53		53	53	1	1.870000	-6.803067	1	0.630000	NM_021633			5	5		225	222	0		1	0		0		53			0.936051	1.418647e-01		0		25		5	225
NFASC	23114	broad.mit.edu	37	1	204923462	204923462	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:204923462G>A	ENST00000401399.1	+	5	561	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NFASC_ENST00000339876.6_Missense_Mutation_p.R121H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000367172.4_Missense_Mutation_p.R121H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H			O94856	NFASC_HUMAN	neurofascin	121	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCTTCGCCCGCAACAAATTT	0.607																																						ENST00000401399.1	1.000000	5.000000e-02	1.000000	0.090000	0.160000	0.328762	0.160000	0.130000																										0				81						c.(361-363)cGc>cAc		neurofascin							46.0	50.0	49.0					1																	204923462		2203	4300	6503	SO:0001583	missense	23114	2	121412	30				g.chr1:204923462G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.362G>A	chr1.hg19:g.204923462G>A	ENSP00000385637:p.Arg121His	1					NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000367172.4_Missense_Mutation_p.R121H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000339876.6_Missense_Mutation_p.R121H	p.R121H			2	4	6	2.892390	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)	5	561	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	0	1	hg19	c.362G>A	CCDS53460.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351348|3.351348	0.61183|0.61183	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.37|5.37	5.37|5.37	0.77165|0.77165	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.53938	.|D	.|0.000050	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.72624|0.72624	2.21|2.21	0.40172|0.40172	D|D	0.977199|0.977199	.|P;P;B;P;P;D	.|0.54601	.|0.711;0.64;0.206;0.838;0.752;0.967	.|B;B;B;B;B;P	.|0.50270	.|0.1;0.083;0.162;0.144;0.083;0.636	T|T	0.77197|0.77197	-0.2676|-0.2676	5|10	.|0.46703	.|T	.|0.11	.|.	18.6966|18.6966	0.91603|0.91603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|115;115;217;121;115;121	.|O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.	T|H	91|121;121;121;121;121;121;115;115;115;121;121;121;115;121;121;115;115;91	.|ENSP00000356140:R121H;ENSP00000356139:R121H;ENSP00000356138:R121H;ENSP00000342128:R121H;ENSP00000344786:R121H;ENSP00000343509:R121H;ENSP00000438614:R115H;ENSP00000353154:R115H;ENSP00000356137:R121H;ENSP00000412161:R121H;ENSP00000384875:R121H;ENSP00000385676:R115H;ENSP00000385637:R121H;ENSP00000427586:R121H;ENSP00000384061:R115H;ENSP00000425908:R115H;ENSP00000415031:R91H	.|ENSP00000295776:R115H	A|R	+|+	1|2	0|0	0|0	NFASC|NFASC	203190085|203190085	203190085|203190085	0.782000|0.782000	0.28689|0.28689	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.659000|2.659000	0.46741|0.46741	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0.733928		TCGA-FB-AAQ6-01A-11D-A40W-08	0.607	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	0	0	0		2	2		0		0	0	40		40	40	1	1.870000	-6.762718	1	0.630000	NM_001005388			5	5		164	160	0		1			0		40			0.934493	0		0		0		5	164
RCAN3	11123	broad.mit.edu	37	1	24859625	24859625	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:24859625C>G	ENST00000374395.4	+	4	735	c.422C>G	c.(421-423)cCt>cGt	p.P141R	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R|RCAN3_ENST00000412742.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	141					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CCGCCCCAGCCTGTCAAGCAG	0.567																																						ENST00000374395.4	1.000000	9.200000e-01	1.000000	0.970000	0.990000	0.990003	0.990000	1.000000																										0				7						c.(421-423)cCt>cGt		RCAN family member 3							69.0	63.0	65.0					1																	24859625		2203	4300	6503	SO:0001583	missense	11123	0	0					g.chr1:24859625C>G		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.422C>G	chr1.hg19:g.24859625C>G	ENSP00000363516:p.Pro141Arg	1					RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R	p.P141R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	0	1	1	1.716275	Q9UKA8	RCAN3_HUMAN		4	735	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	0	1	hg19	c.422C>G	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242107	0.79912	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532	T;T;T	0.50548	0.76;0.75;0.74	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80487	-0.1361	10	0.72032	D	0.01	-28.9874	19.094	0.93242	0.0:1.0:0.0:0.0	.	83;131;141	A4GU14;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	R	141;131;83	ENSP00000363516:P141R;ENSP00000414447:P131R;ENSP00000445401:P83R	ENSP00000363516:P141R	P	+	2	0	0	RCAN3	24732212	24732212	1.000000	0.71417	0.967000	0.41034	0.498000	0.33706	7.278000	0.78587	2.822000	0.97130	0.558000	0.71614	CCT	0.464777		TCGA-FB-AAQ6-01A-11D-A40W-08	0.567	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2	0	0	1		2	2		0		0	0	68		68	68	1	1.870000	-20.000000	1	0.630000				92	89		68	66	0		1	1		0		68			1.000000	9.854147e-01		7		1		92	68
PGBD5	79605	broad.mit.edu	37	1	230492737	230492737	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:230492737C>T	ENST00000525115.1	-	2	478	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PGBD5_ENST00000321327.2_Missense_Mutation_p.R251H|PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	152						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGGCTGGAGCGGAAGGCCAC	0.617																																						ENST00000525115.1	1.000000	6.700000e-01	1.000000	0.760000	0.870000	0.877165	0.870000	1.000000																										0				33						c.(454-456)cGc>cAc		piggyBac transposable element derived 5							80.0	73.0	75.0					1																	230492737		2203	4300	6503	SO:0001583	missense	79605	0	0					g.chr1:230492737C>T	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.455G>A	chr1.hg19:g.230492737C>T	ENSP00000431404:p.Arg152His	1					PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H|PGBD5_ENST00000321327.2_Missense_Mutation_p.R251H	p.R152H			2	4	6	2.909323	Q8N414	PGBD5_HUMAN		2	478	-	Breast(184;0.0397)	Prostate(94;0.167)	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	0	1	hg19	c.455G>A		1	.	.	.	.	.	.	.	.	.	.	C	35	5.549386	0.96501	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18016	2.24;2.24;2.24	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01512	-1.1336	10	0.48119	T	0.1	-48.7684	20.5568	0.99304	0.0:1.0:0.0:0.0	.	152	Q8N414	PGBD5_HUMAN	H	106;251;152	ENSP00000375733:R106H;ENSP00000322530:R251H;ENSP00000431404:R152H	ENSP00000322530:R251H	R	-	2	0	0	PGBD5	228559360	228559360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.861000	0.98227	0.655000	0.94253	CGC	0.736317		TCGA-FB-AAQ6-01A-11D-A40W-08	0.617	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	0	0	1		21	2		1		1	1	51		51	51	1	1.870000	-3.130525	1	0.630000	NM_024554			66	64		284	278	0		1	0		1		51			1.000000	9.520442e-02		0		3		66	284
BTBD3	22903	broad.mit.edu	37	20	11899817	11899817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:11899817G>A	ENST00000405977.1	+	3	1035	c.410G>A	c.(409-411)gGa>gAa	p.G137E	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E|BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	137	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGGTTGCCAGGACACAAAGTA	0.473																																						ENST00000405977.1	1.000000	6.800000e-01	1.000000	0.800000	0.940000	0.915215	0.940000	1.000000																										0				34						c.(409-411)gGa>gAa		BTB (POZ) domain containing 3							104.0	94.0	97.0					20																	11899817		2203	4300	6503	SO:0001583	missense	22903	0	0					g.chr20:11899817G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.410G>A	chr20.hg19:g.11899817G>A	ENSP00000384545:p.Gly137Glu	1					BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E|BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E	p.G137E	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	1	2	3	2.284427	Q9Y2F9	BTBD3_HUMAN		3	1035	+			D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	0	1	hg19	c.410G>A	CCDS13113.1	1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482599	0.63962	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000422390;ENST00000378226;ENST00000455911;ENST00000430557	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.93	5.93	0.95920	5.93	5.93	0.95920	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.72894	2.215	0.80722	D	1	P	0.41188	0.741	P	0.48141	0.568	T	0.09684	-1.0663	10	0.87932	D	0	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	137	Q9Y2F9	BTBD3_HUMAN	E	76;76;137;76;137;26;26	ENSP00000254977:G76E;ENSP00000381971:G76E;ENSP00000384545:G137E;ENSP00000397809:G76E;ENSP00000367471:G137E;ENSP00000408817:G26E;ENSP00000404582:G26E	ENSP00000254977:G76E	G	+	2	0	0	BTBD3	11847817	11847817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.904000	0.87408	2.826000	0.97356	0.655000	0.94253	GGA	0.659989		TCGA-FB-AAQ6-01A-11D-A40W-08	0.473	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3	0	0	1		2	2		0		0	0	54		54	52	1	1.870000	-20.000000	1	0.630000				37	35		104	103	0		1	1		0		54			1.000000	9.279847e-01		5		10		37	104
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3	1.000000	0	1.000000	0.020000	0.040000	0.230889	0.040000	0.050000																										0				36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137	0	0					g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	chr20.hg19:g.34241168G>A	ENSP00000363228:p.Pro693Ser	1					CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	1	2	3	2.284427	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)	3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	0	1	hg19	c.2077C>T	CCDS13261.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	0	RBM12	33704582	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC	0.659989		TCGA-FB-AAQ6-01A-11D-A40W-08	0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	0	1		11	2		1		1	1	196		196	193	1	1.870000	-2.180157	0	0.630000	NM_006047			6	6		511	504	0		0	0		1		196			0.156180	5.487445e-02		0		27		6	511
EDN3	1908	broad.mit.edu	37	20	57899466	57899466	+	Silent	SNP	C	C	T	rs370508486		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57899466C>T	ENST00000337938.2	+	5	1055	c.669C>T	c.(667-669)ctC>ctT	p.L223L	EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000395654.3_Silent_p.L209L	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	223					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACTCGCCCTCGCTCCATCTA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15503	0.0		0.001	False		,,,				2504	0.0					ENST00000337938.2	1.000000	0	1.000000	0.020000	0.040000	0.241188	0.040000	0.050000																										0				19						c.(667-669)ctC>ctT		endothelin 3		C	,,,	0,4406		0,0,2203	96.0	97.0	97.0		669,,627,669	-0.7	0.0	20		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous	EDN3	NM_000114.2,NM_207032.1,NM_207033.1,NM_207034.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	223/239,,209/225,223/239	57899466	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1908	5	121412	40				g.chr20:57899466C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.669C>T	chr20.hg19:g.57899466C>T		1					EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Silent_p.L209L	p.L223L	NM_207034.1	NP_996917.1	1	2	3	2.304725	P14138	EDN3_HUMAN		5	1055	+	all_lung(29;0.0115)		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	ENST00000337938.2	0	1	hg19	c.669C>T	CCDS13477.1	0																																																																																								0.662916		TCGA-FB-AAQ6-01A-11D-A40W-08	0.592	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	0	0	1		2	2		0		0	0	153		153	151	1	1.870000	-2.429460	0	0.630000	NM_000114			8	8		697	687	0		1	0		0		153			0.988777	2.843676e-02		0		20		8	697
KRTAP11-1	337880	broad.mit.edu	37	21	32253686	32253686	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:32253686A>G	ENST00000332378.4	-	1	188	c.158T>C	c.(157-159)cTg>cCg	p.L53P		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	53						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAGTGGTCCAGGAGCCAAGA	0.567																																						ENST00000332378.4	0.830000	5.000000e-01	0.750000	0.570000	0.660000	0.668782	0.660000	0.660000																										0				18						c.(157-159)cTg>cCg		keratin associated protein 11-1							69.0	65.0	66.0					21																	32253686		2203	4300	6503	SO:0001583	missense	337880	0	0					g.chr21:32253686A>G	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.158T>C	chr21.hg19:g.32253686A>G	ENSP00000330720:p.Leu53Pro	0						p.L53P	NM_175858.2	NP_787054.1	0	0	0	2.079131	Q8IUC1	KR111_HUMAN		1	188	-			A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	0	1	hg19	c.158T>C	CCDS13608.1	0	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095059	0.56075	.	.	ENSG00000182591	ENST00000332378	T	0.03689	3.84	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.167269	0.38272	N	0.001753	T	0.15305	0.0369	M	0.84948	2.725	0.58432	D	0.999998	D	0.61080	0.989	D	0.63113	0.911	T	0.00817	-1.1554	10	0.35671	T	0.21	-7.1524	8.316	0.32100	0.9117:0.0:0.0883:0.0	.	53	Q8IUC1	KR111_HUMAN	P	53	ENSP00000330720:L53P	ENSP00000330720:L53P	L	-	2	0	0	KRTAP11-1	31175557	31175557	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.106000	0.57804	2.197000	0.70478	0.529000	0.55759	CTG	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1	0	0	1		2	2		0		0	0	97		97	97	1	1.870000	-20.000000	1	0.630000				48	46		182	181	0		1			0		97			1.000000	0		0		0		48	182
CRYZL1	9946	broad.mit.edu	37	21	34969588	34969588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:34969588G>A	ENST00000381554.3	-	10	881	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	CRYZL1_ENST00000361534.2_Nonsense_Mutation_p.Q290*|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*|CRYZL1_ENST00000480893.1_5'UTR	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	266					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GATAGTACCTGAAGGTTTTCT	0.373																																						ENST00000381554.3	1.000000	8.600000e-01	1.000000	0.930000	0.990000	0.978486	0.990000	1.000000																										0				3						c.(796-798)Cag>Tag		crystallin, zeta (quinone reductase)-like 1							200.0	186.0	191.0					21																	34969588		2203	4300	6503	SO:0001587	stop_gained	9946	0	0					g.chr21:34969588G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.796C>T	chr21.hg19:g.34969588G>A	ENSP00000370966:p.Gln266*	0					CRYZL1_ENST00000480893.1_5'UTR|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*|CRYZL1_ENST00000361534.2_Nonsense_Mutation_p.Q290*|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*	p.Q266*	NM_145858.2	NP_665857.2	0	0	0	2.079131	O95825	QORL1_HUMAN		10	881	-			B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Nonsense_Mutation	SNP	ENST00000381554.3	0	1	hg19	c.796C>T	CCDS13633.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674981|4.674981	0.88445|0.88445	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534|ENST00000441940;ENST00000440526	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74854	.|0.3771	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73461	.|-0.3975	.|4	0.42905|.	T|.	0.14|.	-16.5157|-16.5157	18.807|18.807	0.92041|0.92041	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	266;251;266;290|41;209	.|.	ENSP00000290244:Q251X|.	Q|S	-|-	1|2	0|0	0|0	CRYZL1|CRYZL1	33891458|33891458	33891458|33891458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.661000|7.661000	0.83786|0.83786	2.591000|2.591000	0.87537|0.87537	0.650000|0.650000	0.86243|0.86243	CAG|TCA	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.373	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	0	0	1		2	2		0		0	0	185		185	185	1	1.870000	-11.135130	1	0.630000	NM_145858			120	120		254	249	0		1	0		0		185			1.000000	8.784994e-01		0		10		120	254
DSCAM	1826	broad.mit.edu	37	21	41741051	41741051	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:41741051G>T	ENST00000400454.1	-	4	1107	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	210	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGCGCTGTTGCTCTGCCTCG	0.438																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1	0.150000	3.000000e-02	0.120000	0.050000	0.080000	0.094017	0.080000	0.080000																										0				142						c.(628-630)agC>agA		Down syndrome cell adhesion molecule							93.0	94.0	94.0					21																	41741051		1949	4142	6091	SO:0001583	missense	1826	0	0					g.chr21:41741051G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.630C>A	chr21.hg19:g.41741051G>T	ENSP00000383303:p.Ser210Arg	0						p.S210R	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	0	0	0	2.079131	O60469	DSCAM_HUMAN		4	1107	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	O60468	Missense_Mutation	SNP	ENST00000400454.1	0	1	hg19	c.630C>A	CCDS42929.1	0	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137474	0.77775	.	.	ENSG00000171587	ENST00000400454	T	0.19394	2.15	6.07	-3.03	0.05429	6.07	-3.03	0.05429	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.83603	2.65	0.41002	D	0.98493	D	0.76494	0.999	D	0.83275	0.996	T	0.39542	-0.9609	10	0.66056	D	0.02	.	12.8167	0.57669	0.6272:0.0:0.3728:0.0	.	210	O60469	DSCAM_HUMAN	R	210	ENSP00000383303:S210R	ENSP00000383303:S210R	S	-	3	2	2	DSCAM	40662921	40662921	1.000000	0.71417	0.853000	0.33588	0.951000	0.60555	0.640000	0.24705	-1.031000	0.03308	0.655000	0.94253	AGC	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	0	1		2	2		0		0	0	110		110	110	1	1.870000	-9.104522	1	0.630000	NM_001389			9	9		326	325	0		1			0		110			0.994302	0		0		0		9	326
TRPM2	7226	broad.mit.edu	37	21	45833885	45833885	+	Missense_Mutation	SNP	C	C	T	rs138586774	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:45833885C>T	ENST00000397928.1	+	20	3519	c.3074C>T	c.(3073-3075)aCg>aTg	p.T1025M	TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1025					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GAGTGGCTGACGGTCCTCCTA	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		16952	0.0		0.0	False		,,,				2504	0.0031					ENST00000397928.1	0.130000	5.000000e-02	0.110000	0.070000	0.080000	0.095017	0.080000	0.100000																										0				76						c.(3073-3075)aCg>aTg		transient receptor potential cation channel, subfamily M, member 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	217.0	218.0	218.0		3074	4.7	0.9	21	dbSNP_134	218	0,8600		0,0,4300	no	missense	TRPM2	NM_003307.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1025/1504	45833885	1,13005	2203	4300	6503	SO:0001583	missense	7226	38	121412	52				g.chr21:45833885C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3074C>T	chr21.hg19:g.45833885C>T	ENSP00000381023:p.Thr1025Met	0					TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M	p.T1025M	NM_003307.3	NP_003298	0	0	0	2.079131	O94759	TRPM2_HUMAN		20	3519	+			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	0	1	hg19	c.3074C>T	CCDS13710.1	0	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347791	0.82022	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	4.74	4.74	0.60224	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.88906	2.99	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	-22.3961	18.1214	0.89572	0.0:1.0:0.0:0.0	.	1025;811;1025	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1025;1025;1005;1025	ENSP00000300482:T1025M;ENSP00000381023:T1025M;ENSP00000300481:T1005M;ENSP00000381026:T1025M	ENSP00000300481:T1005M	T	+	2	0	0	TRPM2	44658313	44658313	1.000000	0.71417	0.902000	0.35471	0.965000	0.64279	5.679000	0.68160	2.352000	0.79861	0.591000	0.81541	ACG	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	0	0	1		2	2		0		0	0	387		387	386	1	1.870000	-2.677007	1	0.630000	NM_003307			38	37		1262	1240	0		1	0		0		387			1.000000	0		0		1		38	1262
CHEK2	11200	broad.mit.edu	37	22	29130542	29130542	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:29130542G>C	ENST00000405598.1	-	3	359	c.168C>G	c.(166-168)agC>agG	p.S56R	CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382580.2_Missense_Mutation_p.S56R|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R			O96017	CHK2_HUMAN	checkpoint kinase 2	56					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTGTCCCAGAGCTGGAGTGAG	0.562			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000405598.1	1.000000	7.200000e-01	0.940000	0.780000	0.860000	0.867749	0.860000	0.860000			yes	Rec		familial breast cancer	yes	Rec		familial breast cancer	22	22q12.1	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)				E	E		breast			0				50						c.(166-168)agC>agG	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							127.0	119.0	122.0					22																	29130542		2203	4300	6503	SO:0001583	missense	11200	0	0					g.chr22:29130542G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.168C>G	chr22.hg19:g.29130542G>C	ENSP00000386087:p.Ser56Arg	0					CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382580.2_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR	p.S56R			1	2	3	2.151451	O96017	CHK2_HUMAN		3	359	-			A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	0	1	hg19	c.168C>G	CCDS13843.1	1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791600	0.70452	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.95103	0.58;-0.25;-0.67;-3.61;-0.38;-0.38;-0.38;2.13;-0.25;0.58;0.03;2.13;-2.79	5.42	2.08	0.27032	5.42	2.08	0.27032	.	0.125544	0.85682	D	0.000000	D	0.95446	0.8521	L	0.56769	1.78	0.41295	D	0.987004	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.999;0.998;0.999	D;D;D;D;D;D	0.85130	0.997;0.996;0.991;0.996;0.991;0.996	D	0.93676	0.6994	10	0.41790	T	0.15	-2.6501	9.8378	0.40980	0.2972:0.0:0.7028:0.0	.	56;56;56;56;56;56	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	R	56;56;56;56;56;56;56;56;56;56;56;56;56;66	ENSP00000329012:S56R;ENSP00000372021:S56R;ENSP00000372006:S56R;ENSP00000372007:S56R;ENSP00000329178:S56R;ENSP00000385747:S56R;ENSP00000386087:S56R;ENSP00000372023:S56R;ENSP00000384919:S56R;ENSP00000384835:S56R;ENSP00000397478:S56R;ENSP00000408065:S56R;ENSP00000381099:S66R	ENSP00000329178:S56R	S	-	3	2	2	CHEK2	27460542	27460542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.539000	0.23175	0.749000	0.32854	0.655000	0.94253	AGC	0.635737		TCGA-FB-AAQ6-01A-11D-A40W-08	0.562	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	0	0	1		2	2		0		0	0	108		108	108	1	1.870000	-20.000000	1	0.630000	NM_001005735			110	107		302	289	0		1	1		0		108			1.000000	5.958219e-01		2		5		110	302
NCF4	4689	broad.mit.edu	37	22	37273798	37273798	+	Missense_Mutation	SNP	G	G	A	rs371008750		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:37273798G>A	ENST00000248899.6	+	10	1137	c.953G>A	c.(952-954)cGc>cAc	p.R318H	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	318	OPR.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TCCCAGAAGCGCCTCTTCCCC	0.617																																						ENST00000248899.6	1.000000	7.900000e-01	1.000000	0.910000	0.990000	0.969158	0.990000	1.000000																										0				16						c.(952-954)cGc>cAc		neutrophil cytosolic factor 4, 40kDa	Dextromethorphan(DB00514)	G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	42.0	45.0		,953	0.9	1.0	22		45	0,8600		0,0,4300	no	utr-3,missense	NCF4	NM_013416.3,NM_000631.4	,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,318/340	37273798	1,13005	2203	4300	6503	SO:0001583	missense	4689	3	121412	36				g.chr22:37273798G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.953G>A	chr22.hg19:g.37273798G>A	ENSP00000248899:p.Arg318His	0					NCF4_ENST00000397147.4_3'UTR	p.R318H	NM_000631.4	NP_000622.2	1	2	3	2.151451	Q15080	NCF4_HUMAN		10	1137	+			A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	0	1	hg19	c.953G>A	CCDS13934.1	1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067255	0.36470	2.27E-4	0.0	ENSG00000100365	ENST00000248899	T	0.23552	1.9	5.31	0.851	0.18989	5.31	0.851	0.18989	Phox/Bem1p (2);	.	.	.	.	T	0.13157	0.0319	N	0.16233	0.39	0.58432	D	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.10245	-1.0638	9	0.30854	T	0.27	.	6.9148	0.24354	0.4921:0.0:0.5079:0.0	.	318	Q15080	NCF4_HUMAN	H	318	ENSP00000248899:R318H	ENSP00000248899:R318H	R	+	2	0	0	NCF4	35603744	35603744	0.735000	0.28153	0.982000	0.44146	0.789000	0.44602	0.840000	0.27600	0.240000	0.21263	0.557000	0.71058	CGC	0.635737		TCGA-FB-AAQ6-01A-11D-A40W-08	0.617	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	0	0	1		2	2		0		0	0	25		25	25	1	1.870000	-20.000000	1	0.630000	NM_000631			42	41		88	85	0		1	1		0		25			1.000000	9.999533e-01		8		29		42	88
EP300	2033	broad.mit.edu	37	22	41573306	41573306	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:41573306C>G	ENST00000263253.7	+	31	6810	c.5591C>G	c.(5590-5592)aCc>aGc	p.T1864S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1864					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAACAGCCAACCACCCCGCAG	0.642			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7	1.000000	6.400000e-01	0.900000	0.720000	0.800000	0.812796	0.800000	0.790000				Rec	yes			Rec	yes		22	22q13	22q13	2033	T,  N, F, Mis, O	300 kd E1A-Binding protein gene				"""L, E"""	L, E	MLL, RUNXBP2		colorectal, breast, pancreatic, AML, ALL, DLBCL		0				171						c.(5590-5592)aCc>aGc		E1A binding protein p300							95.0	93.0	94.0					22																	41573306		2203	4300	6503	SO:0001583	missense	2033	0	0		Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	g.chr22:41573306C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5591C>G	chr22.hg19:g.41573306C>G	ENSP00000263253:p.Thr1864Ser	0					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.T1864S	NM_001429.3	NP_001420.2	1	2	3	2.173353	Q09472	EP300_HUMAN		31	6810	+			B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	0	1	hg19	c.5591C>G	CCDS14010.1	0	.	.	.	.	.	.	.	.	.	.	C	4.675	0.125490	0.08931	.	.	ENSG00000100393	ENST00000263253	D	0.82081	-1.57	5.47	4.42	0.53409	5.47	4.42	0.53409	.	0.509983	0.15738	N	0.247047	T	0.64283	0.2584	N	0.04508	-0.205	0.27890	N	0.939351	B	0.02656	0.0	B	0.04013	0.001	T	0.37220	-0.9715	10	0.05721	T	0.95	-0.4911	16.0157	0.80439	0.0:0.8652:0.1348:0.0	.	1864	Q09472	EP300_HUMAN	S	1864	ENSP00000263253:T1864S	ENSP00000263253:T1864S	T	+	2	0	0	EP300	39903252	39903252	0.042000	0.20092	0.813000	0.32504	0.206000	0.24218	3.270000	0.51600	1.251000	0.43983	0.561000	0.74099	ACC	0.637982		TCGA-FB-AAQ6-01A-11D-A40W-08	0.642	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	0	0	1		2	2		0		0	0	86		86	80	1	1.870000	-20.000000	1	0.630000	NM_001429			77	75		236	217	0		1	1		0		86			1.000000	9.985262e-01		9		24		77	236
LPIN1	23175	broad.mit.edu	37	2	11935562	11935562	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:11935562G>A	ENST00000256720.2	+	13	1820	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D|LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	576					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCTTGGCTGGCAAGGCCCAT	0.557																																						ENST00000256720.2	0.100000	0	0.070000	0.020000	0.040000	0.050834	0.040000	0.040000																										0				45						c.(1726-1728)gGc>gAc		lipin 1							57.0	58.0	58.0					2																	11935562		2203	4300	6503	SO:0001583	missense	23175	0	0					g.chr2:11935562G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1727G>A	chr2.hg19:g.11935562G>A	ENSP00000256720:p.Gly576Asp	0					LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D|LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D	p.G576D	NM_145693.2	NP_663731.1	0	1	1	2.074801	Q14693	LPIN1_HUMAN		13	1820	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	0	1	hg19	c.1727G>A	CCDS1682.1	0	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176287	0.21704	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80738	-1.41;-1.4;-1.38;-1.38;-1.24;-0.39;0.52	4.62	3.72	0.42706	4.62	3.72	0.42706	.	0.160285	0.56097	D	0.000028	T	0.77164	0.4090	M	0.65975	2.015	0.38288	D	0.942626	B;B;B	0.14805	0.0;0.011;0.008	B;B;B	0.15870	0.002;0.014;0.007	T	0.73297	-0.4027	10	0.30854	T	0.27	-16.8688	12.3844	0.55325	0.0:0.1712:0.8288:0.0	.	77;661;576	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	D	661;618;582;576;306;77;103	ENSP00000397908:G661D;ENSP00000379406:G618D;ENSP00000401522:G582D;ENSP00000256720:G576D;ENSP00000379404:G306D;ENSP00000386120:G77D;ENSP00000413714:G103D	ENSP00000256720:G576D	G	+	2	0	0	LPIN1	11853013	11853013	0.713000	0.27926	0.024000	0.17045	0.016000	0.09150	2.551000	0.45820	0.923000	0.37045	0.655000	0.94253	GGC	0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.557	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	0	0	1		2	2		0		0	0	137		137	137	1	1.870000	-2.649287	1	0.630000	NM_145693			5	5		365	360	0		1	0		0		137			0.935692	7.781872e-03		0		8		5	365
OSBPL6	114880	broad.mit.edu	37	2	179253838	179253838	+	Silent	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:179253838T>C	ENST00000190611.4	+	21	2635	c.2259T>C	c.(2257-2259)aaT>aaC	p.N753N	OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000359685.3_Silent_p.N717N|OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000392505.2_Silent_p.N778N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	753					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCATCAGAAATACCAAAAGCA	0.348																																						ENST00000190611.4	1.000000	8.000000e-01	1.000000	0.890000	0.980000	0.960366	0.980000	1.000000																										0				46						c.(2257-2259)aaT>aaC		oxysterol binding protein-like 6							127.0	109.0	115.0					2																	179253838		2203	4300	6503	SO:0001819	synonymous_variant	114880	1	121412	17				g.chr2:179253838T>C	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2259T>C	chr2.hg19:g.179253838T>C		0					OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000392505.2_Silent_p.N778N|OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000359685.3_Silent_p.N717N	p.N753N	NM_032523.3	NP_115912.1	0	0	0	2.048692	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)	21	2635	+			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	0	1	hg19	c.2259T>C	CCDS2277.1	1																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	0	0	1		2	2		0		0	0	62		62	61	1	1.870000	-20.000000	1	0.630000	NM_032523			73	73		157	157	0		1	0		0		62			1.000000	0		0		1		73	157
BARD1	580	broad.mit.edu	37	2	215645418	215645418	+	Missense_Mutation	SNP	T	T	C	rs587782548		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:215645418T>C	ENST00000260947.4	-	4	1314	c.1180A>G	c.(1180-1182)Aca>Gca	p.T394A	BARD1_ENST00000471787.1_5'Flank|BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	394					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGGTGGTGTACCTGGTGAA	0.418									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4	0.550000	3.200000e-01	0.490000	0.370000	0.420000	0.436622	0.420000	0.430000																										0				35						c.(1180-1182)Aca>Gca		BRCA1 associated RING domain 1							180.0	158.0	165.0					2																	215645418		2203	4300	6503	SO:0001583	missense	580	0	0		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	g.chr2:215645418T>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1180A>G	chr2.hg19:g.215645418T>C	ENSP00000260947:p.Thr394Ala	0					BARD1_ENST00000471787.1_5'Flank|BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	p.T394A	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	0	0	0	2.048692	Q99728	BARD1_HUMAN		4	1314	-		Renal(323;0.0243)	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	0	1	hg19	c.1180A>G	CCDS2397.1	0	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172231	0.38315	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74421	-0.84;-0.23	5.24	4.05	0.47172	5.24	4.05	0.47172	.	0.507037	0.19811	N	0.105540	T	0.70806	0.3266	M	0.71581	2.175	0.26675	N	0.971643	B;B	0.30406	0.278;0.172	B;B	0.24974	0.057;0.039	T	0.64415	-0.6413	10	0.56958	D	0.05	-0.3721	11.0331	0.47785	0.0:0.0:0.2982:0.7018	.	250;394	E7EUI3;Q99728	.;BARD1_HUMAN	A	394;250	ENSP00000260947:T394A;ENSP00000406752:T250A	ENSP00000260947:T394A	T	-	1	0	0	BARD1	215353663	215353663	0.001000	0.12720	0.030000	0.17652	0.101000	0.19017	0.916000	0.28651	0.796000	0.33947	0.379000	0.24179	ACA	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.418	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	0	0	1		2	2		0		0	0	125		125	125	1	1.870000	-20.000000	1	0.630000	NM_000465			47	47		295	293	0		1	1		0		125			1.000000	1.981800e-02		2		0		47	295
ALPP	250	broad.mit.edu	37	2	233244230	233244230	+	Missense_Mutation	SNP	A	A	G	rs1130341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244230A>G	ENST00000392027.2	+	4	586	c.317A>G	c.(316-318)aAt>aGt	p.N106S	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	106					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGACATACAATGTAGACAAA	0.577																																						ENST00000392027.2	0.370000	9.000000e-02	0.290000	0.140000	0.210000	0.222827	0.210000	0.200000																										0				22						c.(316-318)aAt>aGt		alkaline phosphatase, placental		A	SER/ASN	1,4405		0,1,2202	56.0	51.0	52.0		317	-0.4	1.0	2	dbSNP_86	52	0,8600		0,0,4300	no	missense	ALPP	NM_001632.3	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	106/536	233244230	1,13005	2203	4300	6503	SO:0001583	missense	250	6	121408	30				g.chr2:233244230A>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.317A>G	chr2.hg19:g.233244230A>G	ENSP00000375881:p.Asn106Ser	0					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.N106S	NM_001632.3	NP_001623.3	0	0	0	2.048692	P05187	PPB1_HUMAN		4	586	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	0	1	hg19	c.317A>G	CCDS2490.1	0	.	.	.	.	.	.	.	.	.	.	.	2.668	-0.278125	0.05679	2.27E-4	0.0	ENSG00000163283	ENST00000392027	D	0.95103	-3.61	2.31	-0.39	0.12450	2.31	-0.39	0.12450	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.295720	0.40818	N	0.001001	D	0.83487	0.5265	N	0.12831	0.26	0.29049	N	0.884612	B	0.30889	0.299	B	0.25405	0.06	T	0.75230	-0.3391	10	0.30854	T	0.27	.	6.227	0.20714	0.7126:0.1707:0.1167:0.0	rs1130341;rs3189051;rs17412756	106	P05187	PPB1_HUMAN	S	106	ENSP00000375881:N106S	ENSP00000375881:N106S	N	+	2	0	0	ALPP	232952474	232952474	0.992000	0.36948	0.984000	0.44739	0.510000	0.34073	0.843000	0.27640	-0.220000	0.09988	-0.817000	0.03123	AAT	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.577	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	0	0	0		2	2		0		0	0	42		42	42	1	1.870000	-12.536750	1	0.630000	NM_001632			8	6		116	114	0		1	0		0		42			0.988713	1.590621e-02		0		3		8	116
ELMOD3	84173	broad.mit.edu	37	2	85617280	85617280	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:85617280A>C	ENST00000409890.2	+	13	1502	c.835A>C	c.(835-837)Aag>Cag	p.K279Q	ELMOD3_ENST00000315658.7_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	279	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TCGGCAGCAGAAGGTCATCCC	0.567																																						ENST00000409890.2	0.150000	3.000000e-02	0.120000	0.050000	0.080000	0.093464	0.080000	0.080000																										0				12						c.(835-837)Aag>Cag		ELMO/CED-12 domain containing 3							100.0	83.0	88.0					2																	85617280		2203	4300	6503	SO:0001583	missense	84173	0	0					g.chr2:85617280A>C	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.835A>C	chr2.hg19:g.85617280A>C	ENSP00000386304:p.Lys279Gln	0					ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q|ELMOD3_ENST00000315658.7_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q	p.K279Q			0	1	1	2.074801	Q96FG2	ELMD3_HUMAN		13	1502	+			B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	0	1	hg19	c.835A>C	CCDS46352.1	0	.	.	.	.	.	.	.	.	.	.	A	7.253	0.603569	0.14002	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.98	2.38	0.29361	4.98	2.38	0.29361	Engulfment/cell motility, ELMO (2);	0.194639	0.44483	D	0.000460	T	0.08758	0.0217	N	0.01081	-1.03	0.80722	D	1	B;B	0.23937	0.094;0.01	B;B	0.19946	0.027;0.006	T	0.16867	-1.0388	10	0.09084	T	0.74	-18.2695	10.0611	0.42275	0.51:0.49:0.0:0.0	.	279;279	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	Q	279	ENSP00000387139:K279Q;ENSP00000386304:K279Q;ENSP00000386248:K279Q;ENSP00000377434:K279Q;ENSP00000318264:K279Q	ENSP00000318264:K279Q	K	+	1	0	0	ELMOD3	85470791	85470791	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	2.853000	0.48317	0.730000	0.32425	0.460000	0.39030	AAG	0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.567	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	0	0	1		12	2		0		0	1	113		113	109	1	1.870000	-9.480012	1	0.630000	NM_032213			9	9		327	321	0		0	0		0		113			0.311566	4.280553e-02		0		11		9	327
ALPP	250	broad.mit.edu	37	2	233244240	233244240	+	Silent	SNP	A	A	G	rs1130342		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244240A>G	ENST00000392027.2	+	4	596	c.327A>G	c.(325-327)aaA>aaG	p.K109K	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	109					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ATGTAGACAAACATGTGCCAG	0.567																																						ENST00000392027.2	0.390000	1.100000e-01	0.310000	0.160000	0.220000	0.241855	0.220000	0.220000																										0				22						c.(325-327)aaA>aaG		alkaline phosphatase, placental																																				SO:0001819	synonymous_variant	250	7	121408	34				g.chr2:233244240A>G	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.327A>G	chr2.hg19:g.233244240A>G		0					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.K109K	NM_001632.3	NP_001623.3	0	0	0	2.048692	P05187	PPB1_HUMAN		4	596	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	0	1	hg19	c.327A>G	CCDS2490.1	0																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.567	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	0	0	0		2	2		0		0	0	46		46	46	1	1.870000	-13.892200	1	0.630000	NM_001632			9	7		118	116	0		1	0		0		46			0.993930	6.559332e-03		0		2		9	118
TGFBR2	7048	broad.mit.edu	37	3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	rs104893809		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2; has a negative effect on TGF-beta signaling; dbSNP:rs28934869). {ECO:0000269|PubMed:15235604}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R537C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTGGCAGAACGCTTCAGTGA	0.577																																						ENST00000295754.5	1.000000	8.600000e-01	0.990000	0.910000	0.960000	0.959017	0.960000	0.990000																										1	Substitution - Missense(1)	p.R537C(1)	pancreas(1)	53	GRCh37	CM042122|CM064325	TGFBR2	M	rs104893809	c.(1609-1611)Cgc>Tgc		transforming growth factor, beta receptor II (70/80kDa)							83.0	80.0	81.0					3																	30732996		2203	4300	6503	SO:0001583	missense	7048	0	0					g.chr3:30732996C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1609C>T	chr3.hg19:g.30732996C>T	ENSP00000295754:p.Arg537Cys	1					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	p.R537C	NM_003242.5	NP_003233.4	0	1	1	1.443903	P37173	TGFR2_HUMAN		7	1991	+			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	0	1	hg19	c.1609C>T	CCDS2648.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869682	0.91587	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93604	-3.25;-3.25	5.91	5.91	0.95273	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.87038	2.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97216	0.9874	9	0.87932	D	0	.	15.0515	0.71877	0.142:0.858:0.0:0.0	rs28934869	537;562	P37173;D2JYI1	TGFR2_HUMAN;.	C	537;562;367	ENSP00000295754:R537C;ENSP00000351905:R562C	ENSP00000295754:R537C	R	+	1	0	0	TGFBR2	30708000	30708000	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.930000	0.70104	2.803000	0.96430	0.650000	0.86243	CGC	0.459854		TCGA-FB-AAQ6-01A-11D-A40W-08	0.577	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0	0	1		2	2		0		0	0	115		115	115	1	1.870000	-20.000000	1	0.630000				120	118		132	127	0		1	1		0		115			1.000000	1		25		20		120	132
PLXNB1	5364	broad.mit.edu	37	3	48462686	48462686	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:48462686C>T	ENST00000358536.4	-	8	2030	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	587					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGAGGGGCACATCACACCAG	0.642																																						ENST00000358536.4	1.000000	8.500000e-01	0.990000	0.900000	0.950000	0.952241	0.950000	0.990000																										0				47						c.(1759-1761)atG>atA		plexin B1							67.0	68.0	68.0					3																	48462686		2203	4300	6503	SO:0001583	missense	5364	0	0					g.chr3:48462686C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1761G>A	chr3.hg19:g.48462686C>T	ENSP00000351338:p.Met587Ile	1					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I	p.M587I	NM_002673.4	NP_002664.2	0	1	1	1.443903	O43157	PLXB1_HUMAN		8	2030	-			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	0	1	hg19	c.1761G>A	CCDS2765.1	1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408216	0.11754	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.169599	0.52532	D	0.000070	T	0.02533	0.0077	N	0.13352	0.335	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.58239	-0.7671	10	0.21014	T	0.42	.	16.9108	0.86139	0.0:1.0:0.0:0.0	.	587;587	O43157;O43157-2	PLXB1_HUMAN;.	I	587	ENSP00000296440:M587I;ENSP00000351242:M587I;ENSP00000351338:M587I;ENSP00000414199:M587I	ENSP00000296440:M587I	M	-	3	0	0	PLXNB1	48437690	48437690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.851000	0.39338	2.350000	0.79820	0.561000	0.74099	ATG	0.459854		TCGA-FB-AAQ6-01A-11D-A40W-08	0.642	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	0	0	1		2	2		0		0	0	95		95	91	1	1.870000	-20.000000	1	0.630000	NM_002673			151	149		179	176	0		1	1		0		95			1.000000	9.994035e-01		15		2		151	179
DNAJC13	23317	broad.mit.edu	37	3	132207849	132207849	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:132207849C>G	ENST00000260818.6	+	31	3700	c.3452C>G	c.(3451-3453)gCt>gGt	p.A1151G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1151					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCAAACAGGCTTTCAAGTCA	0.333																																						ENST00000260818.6	1.000000	7.100000e-01	0.970000	0.790000	0.870000	0.879516	0.870000	1.000000																										0				34						c.(3451-3453)gCt>gGt		DnaJ (Hsp40) homolog, subfamily C, member 13							64.0	64.0	64.0					3																	132207849		2203	4300	6503	SO:0001583	missense	23317	1	121406	26				g.chr3:132207849C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3452C>G	chr3.hg19:g.132207849C>G	ENSP00000260818:p.Ala1151Gly	0						p.A1151G	NM_015268.3	NP_056083.3	0	0	0	2.072118	O75165	DJC13_HUMAN		31	3700	+			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	0	1	hg19	c.3452C>G	CCDS33857.1	1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718859	0.68844	.	.	ENSG00000138246	ENST00000260818	T	0.21031	2.03	5.57	5.57	0.84162	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.69463	2.115	0.80722	D	1	D	0.58268	0.982	P	0.46144	0.505	T	0.02567	-1.1140	10	0.34782	T	0.22	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	1151	O75165	DJC13_HUMAN	G	1151	ENSP00000260818:A1151G	ENSP00000260818:A1151G	A	+	2	0	0	DNAJC13	133690539	133690539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.950000	0.63603	2.770000	0.95276	0.650000	0.86243	GCT	0.627654		TCGA-FB-AAQ6-01A-11D-A40W-08	0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	0	0	1		2	2		0		0	0	117		117	116	1	1.870000	-20.000000	1	0.630000	NM_015268			72	72		186	184	0		1	1		0		117			1.000000	6.254414e-01		4		3		72	186
PDLIM3	27295	broad.mit.edu	37	4	186423581	186423581	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:186423581G>A	ENST00000284770.5	-	8	1035	c.962C>T	c.(961-963)gCc>gTc	p.A321V	PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	321	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GTTGCAGTCGGCACACACGAA	0.557																																						ENST00000284770.5	0.080000	0	0.060000	0.020000	0.030000	0.043347	0.030000	0.040000																										0				17						c.(961-963)gCc>gTc		PDZ and LIM domain 3							129.0	115.0	120.0					4																	186423581		2203	4300	6503	SO:0001583	missense	27295	0	0					g.chr4:186423581G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.962C>T	chr4.hg19:g.186423581G>A	ENSP00000284770:p.Ala321Val	0					PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V	p.A321V	NM_014476.5	NP_055291.2	1	2	3	2.098859	Q53GG5	PDLI3_HUMAN		8	1035	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	0	1	hg19	c.962C>T	CCDS3844.1	0	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047505	0.75846	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	D;D	0.88277	-2.36;-2.36	5.5	5.5	0.81552	5.5	5.5	0.81552	Zinc finger, LIM-type (5);	0.104803	0.64402	D	0.000002	D	0.87293	0.6141	L	0.28649	0.875	0.80722	D	1	B;B	0.32302	0.363;0.24	B;B	0.39935	0.209;0.314	D	0.86544	0.1830	10	0.72032	D	0.01	-24.6852	19.757	0.96298	0.0:0.0:1.0:0.0	.	273;321	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	V	321;273	ENSP00000284770:A321V;ENSP00000284771:A273V	ENSP00000284770:A321V	A	-	2	0	0	PDLIM3	186660575	186660575	1.000000	0.71417	0.748000	0.31131	0.843000	0.47879	7.823000	0.86660	2.758000	0.94735	0.561000	0.74099	GCC	0.631162		TCGA-FB-AAQ6-01A-11D-A40W-08	0.557	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	0	0	1		2	2		0		0	0	189		189	187	1	1.870000	-2.108969	0	0.630000	NM_014476			7	6		578	572	0		1	0		0		189			0.979855	6.672765e-02		0		30		7	578
PCDHGB7	56099	broad.mit.edu	37	5	140799542	140799542	+	Missense_Mutation	SNP	G	G	A	rs372316838		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:140799542G>A	ENST00000398594.2	+	1	2116	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCCTCGCGGTGATTCT	0.557																																						ENST00000398594.2	1.000000	9.400000e-01	1.000000	0.990000	0.990000	0.996336	0.990000	1.000000																										0				56						c.(2116-2118)Gcg>Acg		protocadherin gamma subfamily B, 7		G	,,,,,,,,,,,,,,,THR/ALA,,THR/ALA	0,4324		0,0,2162	100.0	105.0	103.0		,,,,,,,,,,,,,,,2116,,2116	1.4	0.0	5		103	2,8512		0,2,4255	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,58,,58	0,2,6417	AA,AG,GG		0.0235,0.0,0.0156	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,706/930,,706/809	140799542	2,12836	2162	4257	6419	SO:0001583	missense	56099	6	121178	42				g.chr5:140799542G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2116G>A	chr5.hg19:g.140799542G>A	ENSP00000381594:p.Ala706Thr	0					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	p.A706T	NM_018927.3	NP_061750.1	1	2	3	2.093621	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2116	+			Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	0	1	hg19	c.2116G>A	CCDS47293.1	1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.656858	0.00779	0.0	2.35E-4	ENSG00000254122	ENST00000398594	T	0.14640	2.49	5.77	1.43	0.22495	5.77	1.43	0.22495	.	0.277852	0.18696	U	0.133734	T	0.07279	0.0184	L	0.31578	0.945	0.09310	N	1	B;B	0.28470	0.213;0.141	B;B	0.25884	0.021;0.064	T	0.37430	-0.9706	10	0.13853	T	0.58	.	4.5122	0.11917	0.3841:0.0:0.4673:0.1486	.	706;706	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	706	ENSP00000381594:A706T	ENSP00000381594:A706T	A	+	1	0	0	PCDHGB7	140779726	140779726	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	1.191000	0.32138	0.352000	0.24053	0.561000	0.74099	GCG	0.631162		TCGA-FB-AAQ6-01A-11D-A40W-08	0.557	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	0	0	1		2	2		0		0	0	152		152	151	1	1.870000	-20.000000	1	0.630000	NM_018927			114	112		214	212	0		1	0		0		152			1.000000	0		0		1		114	214
FAT2	2196	broad.mit.edu	37	5	150891812	150891812	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:150891812G>A	ENST00000261800.5	-	20	11831	c.11819C>T	c.(11818-11820)gCc>gTc	p.A3940V	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3940	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGAGGGCTTGTGTCTC	0.607																																						ENST00000261800.5	0.930000	5.500000e-01	0.830000	0.630000	0.720000	0.736237	0.720000	0.720000																										0				196						c.(11818-11820)gCc>gTc		FAT atypical cadherin 2							68.0	60.0	63.0					5																	150891812		2203	4300	6503	SO:0001583	missense	2196	0	0					g.chr5:150891812G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11819C>T	chr5.hg19:g.150891812G>A	ENSP00000261800:p.Ala3940Val	0					CTC-251D13.1_ENST00000606930.1_RNA	p.A3940V	NM_001447.2	NP_001438.1	1	2	3	2.093621	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	20	11831	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	0	1	hg19	c.11819C>T	CCDS4317.1	0	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369196	0.05069	.	.	ENSG00000086570	ENST00000261800	T	0.69561	-0.41	5.16	3.33	0.38152	5.16	3.33	0.38152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.459686	0.18025	N	0.154102	T	0.59293	0.2183	L	0.51422	1.61	0.09310	N	1	B;B	0.32245	0.361;0.136	B;B	0.35470	0.203;0.042	T	0.47484	-0.9114	10	0.29301	T	0.29	.	9.7829	0.40660	0.0:0.3639:0.503:0.1331	.	3940;1045	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3940	ENSP00000261800:A3940V	ENSP00000261800:A3940V	A	-	2	0	0	FAT2	150872005	150872005	0.971000	0.33674	0.132000	0.22025	0.017000	0.09413	1.409000	0.34680	0.638000	0.30545	-0.121000	0.15023	GCC	0.631162		TCGA-FB-AAQ6-01A-11D-A40W-08	0.607	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	1		2	2		0		0	0	62		62	60	1	1.870000	-20.000000	1	0.630000	NM_001447			47	47		158	157	0		1			0		62			1.000000	0		0		0		47	158
C5orf42	65250	broad.mit.edu	37	5	37125474	37125474	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:37125474C>G	ENST00000508244.1	-	45	8761	c.8668G>C	c.(8668-8670)Gac>Cac	p.D2890H	C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H|C5orf42_ENST00000274258.7_Missense_Mutation_p.D1788H|C5orf42_ENST00000512288.1_Intron			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2890						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCCTTGTCAGTTCTTTGT	0.348																																						ENST00000508244.1	0.160000	4.000000e-02	0.130000	0.070000	0.090000	0.103924	0.090000	0.100000																										0				79						c.(8668-8670)Gac>Cac		chromosome 5 open reading frame 42							149.0	141.0	144.0					5																	37125474		2203	4300	6503	SO:0001583	missense	65250	4	121412	42				g.chr5:37125474C>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8668G>C	chr5.hg19:g.37125474C>G	ENSP00000421690:p.Asp2890His	0					C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000274258.7_Missense_Mutation_p.D1788H|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H	p.D2890H			0	0	0	2.091204	Q9H799	CE042_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)	45	8761	-	all_lung(31;0.000616)		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	0	1	hg19	c.8668G>C	CCDS34146.2	0	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633422	0.87660	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.392756	0.27792	N	0.017821	T	0.43055	0.1230	L	0.29908	0.895	0.31060	N	0.714288	P;P	0.46220	0.547;0.874	B;B	0.44224	0.444;0.444	T	0.52859	-0.8519	10	0.66056	D	0.02	.	15.924	0.79597	0.0:1.0:0.0:0.0	.	2890;1788	E9PH94;Q9H799	.;CE042_HUMAN	H	2890;2890;1788;1956	ENSP00000421690:D2890H;ENSP00000389014:D2890H;ENSP00000274258:D1788H;ENSP00000424223:D1956H	ENSP00000274258:D1788H	D	-	1	0	0	C5orf42	37161231	37161231	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.754000	0.55189	2.828000	0.97474	0.655000	0.94253	GAC	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	0	0	1		2	2		0		0	0	157		157	157	1	1.870000	-3.316190	1	0.630000	NM_023073			13	12		412	408	0		1	0		0		157			0.999504	1.061092e-02		0		5		13	412
GRM6	2916	broad.mit.edu	37	5	178413297	178413297	+	Missense_Mutation	SNP	C	C	T	rs62638622	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:178413297C>T	ENST00000517717.1	-	9	1996	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	GRM6_ENST00000231188.5_Missense_Mutation_p.R653H|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	653					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GAAGAGCCTGCGGGCGGCACA	0.642																																						ENST00000517717.1	0.300000	4.000000e-02	0.210000	0.080000	0.130000	0.150794	0.130000	0.120000																										0				55						c.(1957-1959)cGc>cAc		glutamate receptor, metabotropic 6		C	HIS/ARG	0,4406		0,0,2203	39.0	42.0	41.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1958	5.0	0.1	5	dbSNP_129	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GRM6	NM_000843.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	653/878	178413297	2,13004	2203	4300	6503	SO:0001583	missense	2916	30	121358	43				g.chr5:178413297C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1958G>A	chr5.hg19:g.178413297C>T	ENSP00000430767:p.Arg653His	0					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R653H	p.R653H			1	2	3	2.093621	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	9	1996	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)		Missense_Mutation	SNP	ENST00000517717.1	0	1	hg19	c.1958G>A	CCDS4442.1	0	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471230	0.63625	0.0	2.33E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90676	-2.71;-2.71	5.02	5.02	0.67125	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96087	0.8725	M	0.90425	3.115	0.58432	D	0.999997	D;D	0.89917	1.0;0.979	D;P	0.87578	0.998;0.581	D	0.96814	0.9599	9	0.87932	D	0	.	16.2011	0.82078	0.0:1.0:0.0:0.0	rs62638622	809;653	E7EX65;O15303	.;GRM6_HUMAN	H	809;653;653	ENSP00000231188:R653H;ENSP00000430767:R653H	ENSP00000231188:R653H	R	-	2	0	0	GRM6	178345903	178345903	1.000000	0.71417	0.091000	0.20842	0.116000	0.19942	7.658000	0.83755	2.495000	0.84180	0.462000	0.41574	CGC	0.631162		TCGA-FB-AAQ6-01A-11D-A40W-08	0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	0	0	1		2	2		0		0	0	27		27	26	1	1.870000	-6.898672	1	0.630000				4	4		99	95	0		1			0		27			0.882257	0		0		0		4	99
NOL7	51406	broad.mit.edu	37	6	13620462	13620462	+	Missense_Mutation	SNP	G	G	A	rs143778341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:13620462G>A	ENST00000451315.2	+	6	555	c.523G>A	c.(523-525)Gta>Ata	p.V175I	RANBP9_ENST00000469916.1_5'Flank|NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	175						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CTACTTGGCCGTAAGGCTAAA	0.383																																						ENST00000451315.2	0.110000	1.000000e-02	0.080000	0.030000	0.050000	0.059935	0.050000	0.050000																										0				5						c.(523-525)Gta>Ata		nucleolar protein 7, 27kDa		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	95.0	95.0	95.0		523	-11.6	0.0	6	dbSNP_134	95	0,8600		0,0,4300	no	missense	NOL7	NM_016167.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	175/258	13620462	1,13005	2203	4300	6503	SO:0001583	missense	51406	0	0					g.chr6:13620462G>A	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.523G>A	chr6.hg19:g.13620462G>A	ENSP00000405674:p.Val175Ile	0					NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'Flank|AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M	p.V175I	NM_016167.3	NP_057251.2	0	1	1	2.077905	Q9UMY1	NOL7_HUMAN	Epithelial(50;0.176)	6	555	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Q5T297|Q9Y3U7	Missense_Mutation	SNP	ENST00000451315.2	0	1	hg19	c.523G>A	CCDS4528.1	0	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249688	0.22880	2.27E-4	0.0	ENSG00000225921	ENST00000451315	.	.	.	5.8	-11.6	0.00059	5.8	-11.6	0.00059	.	1.503030	0.04455	N	0.373256	T	0.16214	0.0390	N	0.24115	0.695	0.09310	N	1	B	0.32128	0.357	B	0.24394	0.053	T	0.20107	-1.0285	9	0.52906	T	0.07	-6.5213	23.1364	0.99980	0.0:0.6737:0.2507:0.0756	.	175	Q9UMY1	NOL7_HUMAN	I	175	.	ENSP00000405674:V175I	V	+	1	0	0	NOL7	13728441	13728441	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-1.036000	0.03560	-1.984000	0.00985	-0.211000	0.12701	GTA	0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.383	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	0	0	1		2	2		0		0	0	135		135	135	1	1.870000	-2.688085	1	0.630000	NM_016167			5	5		309	305	0		1	0		0		135			0.935905	7.067690e-01		0		146		5	309
RREB1	6239	broad.mit.edu	37	6	7229470	7229470	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:7229470G>A	ENST00000349384.6	+	10	1452	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	RREB1_ENST00000379938.2_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T|RREB1_ENST00000334984.6_Missense_Mutation_p.A380T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	380					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCTGCCCCCGCCGAGGAGCC	0.652																																						ENST00000349384.6	0.780000	4.300000e-01	0.690000	0.500000	0.590000	0.604073	0.590000	0.590000																										0				58						c.(1138-1140)Gcc>Acc		ras responsive element binding protein 1																																				SO:0001583	missense	6239	3	121412	35				g.chr6:7229470G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1138G>A	chr6.hg19:g.7229470G>A	ENSP00000305560:p.Ala380Thr	0					RREB1_ENST00000379938.2_Missense_Mutation_p.A380T|RREB1_ENST00000334984.6_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T	p.A380T	NM_001003698.3	NP_001003698.1	0	1	1	2.077905	Q92766	RREB1_HUMAN		10	1452	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	0	1	hg19	c.1138G>A	CCDS34336.1	0	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386212	0.04966	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.09723	3.07;3.05;3.07;2.95;3.1	5.71	-3.44	0.04796	5.71	-3.44	0.04796	.	0.637364	0.13362	N	0.393588	T	0.01905	0.0060	N	0.20685	0.6	0.09310	N	1	B;B;B	0.15473	0.009;0.013;0.002	B;B;B	0.09377	0.004;0.004;0.002	T	0.45687	-0.9244	10	0.56958	D	0.05	-3.7986	8.2984	0.31999	0.433:0.2:0.3669:0.0	.	380;380;380	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	380	ENSP00000369265:A380T;ENSP00000369270:A380T;ENSP00000305560:A380T;ENSP00000335574:A380T;ENSP00000419511:A380T	ENSP00000335574:A380T	A	+	1	0	0	RREB1	7174469	7174469	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	-0.498000	0.06420	-0.332000	0.08489	-0.672000	0.03802	GCC	0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.652	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0	0	1		2	2		0		0	0	50		50	49	1	1.870000	-20.000000	1	0.630000				35	35		151	145	0		1	0		0		50			1.000000	9.746707e-02		0		3		35	151
NKAPL	222698	broad.mit.edu	37	6	28227596	28227596	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:28227596C>T	ENST00000343684.3	+	1	499	c.447C>T	c.(445-447)gaC>gaT	p.D149D	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	149										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TAGATTCTGACGAACATACCC	0.512																																						ENST00000343684.3	0.960000	7.500000e-01	0.920000	0.800000	0.850000	0.862176	0.850000	0.860000																										0				31						c.(445-447)gaC>gaT		NFKB activating protein-like							96.0	104.0	101.0					6																	28227596		2203	4300	6503	SO:0001819	synonymous_variant	222698	0	0					g.chr6:28227596C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.447C>T	chr6.hg19:g.28227596C>T		0					ZKSCAN4_ENST00000423974.2_5'Flank	p.D149D	NM_001007531.1	NP_001007532.1	0	1	1	2.077905	Q5M9Q1	NKAPL_HUMAN		1	499	+			Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	0	1	hg19	c.447C>T	CCDS34353.1	1																																																																																								0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.512	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	0	0	1		2	2		0		0	0	205		205	202	1	1.870000	-20.000000	1	0.630000				182	180		487	483	0		1			0		205			1.000000	0		0		0		182	487
PHF3	23469	broad.mit.edu	37	6	64412409	64412409	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64412409G>T	ENST00000262043.3	+	10	3451	c.3111G>T	c.(3109-3111)atG>atT	p.M1037I	PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I			Q92576	PHF3_HUMAN	PHD finger protein 3	1037	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCATAGAAATGATTGAGAAAG	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3	0.630000	3.500000e-01	0.560000	0.410000	0.480000	0.494481	0.480000	0.480000																										0				75						c.(3109-3111)atG>atT		PHD finger protein 3							62.0	58.0	59.0					6																	64412409		2203	4300	6503	SO:0001583	missense	23469	0	0					g.chr6:64412409G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3111G>T	chr6.hg19:g.64412409G>T	ENSP00000262043:p.Met1037Ile	0					PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I	p.M1037I			0	1	1	2.077905	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)	10	3451	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	0	1	hg19	c.3111G>T	CCDS4966.1	0	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971366	0.74246	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.46819	2.09;0.86;2.13;2.13	5.49	5.49	0.81192	5.49	5.49	0.81192	Transcription elongation factor S-II, central domain (2);	0.000000	0.48286	D	0.000195	T	0.41696	0.1170	L	0.39147	1.195	0.80722	D	1	P	0.52842	0.956	P	0.48982	0.597	T	0.33189	-0.9878	10	0.52906	T	0.07	-16.5771	19.3501	0.94379	0.0:0.0:1.0:0.0	.	1037	Q92576	PHF3_HUMAN	I	851;306;1037;1037	ENSP00000424694:M851I;ENSP00000425338:M306I;ENSP00000262043:M1037I;ENSP00000377048:M1037I	ENSP00000262043:M1037I	M	+	3	0	0	PHF3	64470368	64470368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.773000	0.98989	2.576000	0.86940	0.591000	0.81541	ATG	0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	1		2	2		0		0	0	59		59	59	1	1.870000	-20.000000	1	0.630000				38	38		209	207	0		1	0		0		59			1.000000	8.844976e-01		0		23		38	209
PHF3	23469	broad.mit.edu	37	6	64413463	64413463	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413463G>A	ENST00000262043.3	+	11	3609	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E			Q92576	PHF3_HUMAN	PHD finger protein 3	1090					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGCCAGAAGGATCTGAAAAA	0.368																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3	0.490000	2.600000e-01	0.440000	0.310000	0.370000	0.379003	0.370000	0.370000																										0				75						c.(3268-3270)gGa>gAa		PHD finger protein 3							91.0	93.0	92.0					6																	64413463		2203	4300	6503	SO:0001583	missense	23469	2	121412	29				g.chr6:64413463G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3269G>A	chr6.hg19:g.64413463G>A	ENSP00000262043:p.Gly1090Glu	0					PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E	p.G1090E			0	1	1	2.077905	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)	11	3609	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	0	1	hg19	c.3269G>A	CCDS4966.1	0	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681306	0.29872	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.41758	2.35;0.99;2.37;2.37	5.54	1.03	0.20045	5.54	1.03	0.20045	.	0.238263	0.21734	N	0.069931	T	0.02727	0.0082	N	0.02539	-0.55	0.25439	N	0.988114	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.02654	T	1	-7.4536	0.8723	0.01217	0.2381:0.1955:0.3717:0.1947	.	1090	Q92576	PHF3_HUMAN	E	904;359;1090;1090	ENSP00000424694:G904E;ENSP00000425338:G359E;ENSP00000262043:G1090E;ENSP00000377048:G1090E	ENSP00000262043:G1090E	G	+	2	0	0	PHF3	64471422	64471422	0.998000	0.40836	0.995000	0.50966	0.968000	0.65278	2.108000	0.41854	0.222000	0.20900	0.591000	0.81541	GGA	0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	0		2	2		0		0	0	124		124	124	1	1.870000	-14.817710	1	0.630000				35	35		263	261	0		1	0		0		124			1.000000	3.411968e-01		0		10		35	263
PHF3	23469	broad.mit.edu	37	6	64413504	64413504	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413504G>C	ENST00000262043.3	+	11	3650	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H			Q92576	PHF3_HUMAN	PHD finger protein 3	1104					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TATGTCTAAAGATACCACTAG	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3	0.370000	1.800000e-01	0.320000	0.220000	0.260000	0.276241	0.260000	0.270000																										0				75						c.(3310-3312)Gat>Cat		PHD finger protein 3							107.0	107.0	107.0					6																	64413504		2203	4300	6503	SO:0001583	missense	23469	0	0					g.chr6:64413504G>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3310G>C	chr6.hg19:g.64413504G>C	ENSP00000262043:p.Asp1104His	0					PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H	p.D1104H			0	1	1	2.077905	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)	11	3650	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	0	1	hg19	c.3310G>C	CCDS4966.1	0	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133046	0.56828	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.59906	1.23;0.23;1.63;1.63	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.000000	0.37348	N	0.002136	T	0.71247	0.3317	M	0.82193	2.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.75249	-0.3384	10	0.66056	D	0.02	-23.8579	12.4924	0.55907	0.0767:0.0:0.9233:0.0	.	1104	Q92576	PHF3_HUMAN	H	918;373;1104;1104	ENSP00000424694:D918H;ENSP00000425338:D373H;ENSP00000262043:D1104H;ENSP00000377048:D1104H	ENSP00000262043:D1104H	D	+	1	0	0	PHF3	64471463	64471463	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.246000	0.78247	2.716000	0.92895	0.591000	0.81541	GAT	0.628831		TCGA-FB-AAQ6-01A-11D-A40W-08	0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	0		2	2		0		0	0	148		148	148	1	1.870000	-20.000000	1	0.630000				31	31		333	331	0		1	0		0		148			1.000000	3.161037e-01		0		13		31	333
PACRG	135138	broad.mit.edu	37	6	163510311	163510311	+	Nonsense_Mutation	SNP	C	C	T	rs369094995		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:163510311C>T	ENST00000337019.3	+	5	708	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	162					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.R162*(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CCTCCGAAACCGACAGGTCAT	0.453																																						ENST00000337019.3	1.000000	8.100000e-01	0.980000	0.870000	0.920000	0.926608	0.920000	0.950000																										1	Substitution - Nonsense(1)	p.R162*(1)	endometrium(1)	20						c.(484-486)Cga>Tga		PARK2 co-regulated		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	141.0	123.0	129.0		484,484,484	3.8	1.0	6		129	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	PACRG	NM_001080378.1,NM_001080379.1,NM_152410.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	162/258,162/258,162/297	163510311	1,13005	2203	4300	6503	SO:0001587	stop_gained	135138	3	121412	40				g.chr6:163510311C>T	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.484C>T	chr6.hg19:g.163510311C>T	ENSP00000337946:p.Arg162*	1					PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*	p.R162*	NM_152410.2	NP_689623.2	0	1	1	1.467522	Q96M98	PACRG_HUMAN		5	708	+		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Nonsense_Mutation	SNP	ENST00000337019.3	0	1	hg19	c.484C>T	CCDS5284.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.811865|4.811865	0.90707|0.90707	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000337019;ENST00000366889;ENST00000366888	.|.	.|.	.|.	5.63|5.63	3.76|3.76	0.43208|0.43208	5.63|5.63	3.76|3.76	0.43208|0.43208	.|.	.|0.126644	.|0.53938	.|D	.|0.000055	T|.	0.23688|.	0.0573|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08953|.	-1.0697|.	3|.	.|0.08381	.|T	.|0.77	-12.2326|-12.2326	14.4441|14.4441	0.67338|0.67338	0.2765:0.7235:0.0:0.0|0.2765:0.7235:0.0:0.0	.|.	.|.	.|.	.|.	L|X	77|162	.|.	.|ENSP00000337946:R162X	P|R	+|+	2|1	0|2	0|2	PACRG|PACRG	163430301|163430301	163430301|163430301	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.928000|0.928000	0.56348|0.56348	1.974000|1.974000	0.40559|0.40559	0.656000|0.656000	0.30886|0.30886	0.591000|0.591000	0.81541|0.81541	CCG|CGA	0.459854		TCGA-FB-AAQ6-01A-11D-A40W-08	0.453	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	0	0	1		2	2		0		0	0	177		177	176	1	1.870000	-19.998010	1	0.630000	NM_152410			128	127		165	164	0		1	0		0		177			1.000000	0		0		1		128	165
DGKI	9162	broad.mit.edu	37	7	137092622	137092622	+	Splice_Site	SNP	G	G	A	rs79823365		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:137092622G>A	ENST00000288490.5	-	31	2943	c.2943C>T	c.(2941-2943)caC>caT	p.H981H	DGKI_ENST00000453654.2_Splice_Site_p.H650H|DGKI_ENST00000424189.2_Splice_Site_p.H994H|DGKI_ENST00000446122.1_Splice_Site_p.H963H|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	981					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTACTTACCGTGGTCAAGGA	0.443																																						ENST00000288490.5	1.000000	7.600000e-01	0.950000	0.820000	0.880000	0.887939	0.880000	0.880000																										0				84						c.(2941-2943)caC>caT		diacylglycerol kinase, iota							206.0	170.0	182.0					7																	137092622		2203	4300	6503	SO:0001630	splice_region_variant	9162	1	121412	31				g.chr7:137092622G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2944+1C>T	chr7.hg19:g.137092622G>A		0					DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Splice_Site_p.H994H|DGKI_ENST00000446122.1_Splice_Site_p.H963H|DGKI_ENST00000453654.2_Splice_Site_p.H650H	p.H981H	NM_004717.2	NP_004708.1	0	0	0	2.086534	O75912	DGKI_HUMAN		31	2943	-			A4D1Q9|Q9NZ49	Splice_Site	SNP	ENST00000288490.5	0	1	hg19	c.2943C>T	CCDS5845.1	1																																																																																								0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	0	0	1		2	2		0		0	0	203		203	202	1	1.870000	-20.000000	1	0.630000	NM_004717	Silent		142	141		366	364	0		1			0		203			1.000000	0		0		0		142	366
STAG3L4	64940	broad.mit.edu	37	7	66785098	66785098	+	RNA	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:66785098A>C	ENST00000416602.2	+	0	728					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGCTGCATTAATACTACATTG	0.368																																						ENST00000416602.2	0.620000	3.400000e-01	0.550000	0.400000	0.470000	0.481842	0.470000	0.470000																										0				7								stromal antigen 3-like 4 (pseudogene)							80.0	70.0	73.0					7																	66785098		1838	4080	5918			64940	0	0					g.chr7:66785098A>C			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		chr7.hg19:g.66785098A>C		0							NR_040586.1		1	2	3	2.108476	Q8TBR4	ST3L4_HUMAN		0	728	+		Lung NSC(55;0.0839)|all_lung(88;0.181)	Q9H8W0	RNA	SNP	ENST00000416602.2	0	1	hg19			0	.	.	.	.	.	.	.	.	.	.	a	4.956	0.177539	0.09443	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	2.19	2.19	0.27852	2.19	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3172	0.21196	1.0:0.0:0.0:0.0	.	.	.	.	Y	151	.	.	X	+	3	2	2	STAG3L4	66422533	66422533	1.000000	0.71417	0.992000	0.48379	0.373000	0.29922	1.725000	0.38074	1.031000	0.39867	0.076000	0.15429	TAA	0.631162		TCGA-FB-AAQ6-01A-11D-A40W-08	0.368	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	0	0	1		2	2		0		0	0	111		111	116	1	1.870000	-20.000000	1	0.630000	NM_022906			41	40		234	230	0		1	0		0		111			1.000000	7.138993e-01		1		15		41	234
TAS2R4	50832	broad.mit.edu	37	7	141478409	141478409	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:141478409A>G	ENST00000247881.2	+	1	168	c.121A>G	c.(121-123)Atc>Gtc	p.I41V	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	41					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAGCCATAGAATCTCCTCTTC	0.383																																						ENST00000247881.2	0.980000	7.400000e-01	0.920000	0.790000	0.850000	0.860932	0.850000	0.860000																										0				7						c.(121-123)Atc>Gtc		taste receptor, type 2, member 4							165.0	162.0	163.0					7																	141478409		2203	4300	6503	SO:0001583	missense	50832	0	0					g.chr7:141478409A>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.121A>G	chr7.hg19:g.141478409A>G	ENSP00000247881:p.Ile41Val	0					SSBP1_ENST00000465582.1_Intron	p.I41V	NM_016944.1	NP_058640.1	1	2	3	2.102894	Q9NYW5	TA2R4_HUMAN		1	168	+	Melanoma(164;0.0171)		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	0	1	hg19	c.121A>G	CCDS5868.1	1	.	.	.	.	.	.	.	.	.	.	A	8.257	0.810241	0.16537	.	.	ENSG00000127364	ENST00000247881	T	0.00873	5.59	5.57	2.23	0.28157	5.57	2.23	0.28157	.	0.805187	0.11220	N	0.586826	T	0.01189	0.0039	L	0.49126	1.545	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.46992	-0.9151	10	0.30078	T	0.28	.	5.7936	0.18373	0.3662:0.4428:0.191:0.0	.	41	Q9NYW5	TA2R4_HUMAN	V	41	ENSP00000247881:I41V	ENSP00000247881:I41V	I	+	1	0	0	TAS2R4	141124878	141124878	0.000000	0.05858	0.136000	0.22124	0.939000	0.58152	-0.260000	0.08708	0.214000	0.20742	0.528000	0.53228	ATC	0.631162		TCGA-FB-AAQ6-01A-11D-A40W-08	0.383	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1	0	0	1		2	2		0		0	0	227		227	226	1	1.870000	-20.000000	1	0.630000				156	152		422	412	0		1			0		227			1.000000	0		0		0		156	422
ENPP2	5168	broad.mit.edu	37	8	120633644	120633644	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:120633644C>T	ENST00000075322.6	-	4	466	c.408G>A	c.(406-408)gtG>gtA	p.V136V	ENPP2_ENST00000427067.2_Silent_p.V132V|ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000259486.6_Silent_p.V136V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	136	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTTGCAAACCACTTGGTAAT	0.463																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000075322.6	1.000000	7.600000e-01	1.000000	0.840000	0.920000	0.924234	0.920000	1.000000																										0				69						c.(406-408)gtG>gtA		ectonucleotide pyrophosphatase/phosphodiesterase 2							112.0	103.0	106.0					8																	120633644		2203	4300	6503	SO:0001819	synonymous_variant	5168	0	0					g.chr8:120633644C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.408G>A	chr8.hg19:g.120633644C>T		0					ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000427067.2_Silent_p.V132V|ENPP2_ENST00000259486.6_Silent_p.V136V	p.V136V	NM_001040092.2	NP_001035181.1	0	0	0	2.050546	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)	4	466	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	0	1	hg19	c.408G>A	CCDS34936.1	1																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	0	0	1		2	2		0		0	0	101		101	99	1	1.870000	-7.495295	1	0.630000				86	84		203	200	0		1	0		0		101			1.000000	9.999485e-01		0		38		86	203
RAB11FIP1	80223	broad.mit.edu	37	8	37728914	37728914	+	Missense_Mutation	SNP	C	C	A	rs201773104		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:37728914C>A	ENST00000330843.4	-	4	3418	c.3406G>T	c.(3406-3408)Gct>Tct	p.A1136S	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1136					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.A1136T(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTCTACCAGCGGAGCCCTCT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4	0.910000	6.800000e-01	0.860000	0.730000	0.790000	0.801069	0.790000	0.800000																										1	Substitution - Missense(1)	p.A1136T(1)	large_intestine(1)	49						c.(3406-3408)Gct>Tct		RAB11 family interacting protein 1 (class I)							109.0	118.0	115.0					8																	37728914		2203	4300	6503	SO:0001583	missense	80223	0	0					g.chr8:37728914C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3406G>T	chr8.hg19:g.37728914C>A	ENSP00000331342:p.Ala1136Ser	0		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	p.A1136S	NM_001002814.2	NP_001002814.2	0	0	0	2.050546	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)	4	3418	-		Lung NSC(58;0.118)|all_lung(54;0.195)	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	0	1	hg19	c.3406G>T	CCDS34882.1	0	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911299	0.33721	.	.	ENSG00000156675	ENST00000330843	T	0.44881	0.91	5.29	0.0514	0.14297	5.29	0.0514	0.14297	.	0.867765	0.09895	N	0.741866	T	0.16938	0.0407	N	0.19112	0.55	0.20926	N	0.999823	P;B	0.43826	0.818;0.239	B;B	0.36378	0.223;0.054	T	0.08576	-1.0715	10	0.07030	T	0.85	-1.0042	1.2767	0.02032	0.2411:0.4183:0.1345:0.2061	.	465;1136	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	S	1136	ENSP00000331342:A1136S	ENSP00000331342:A1136S	A	-	1	0	0	RAB11FIP1	37848072	37848072	0.003000	0.15002	0.106000	0.21319	0.878000	0.50629	0.172000	0.16704	-0.054000	0.13266	0.555000	0.69702	GCT	0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	0	0	1		2	2		0		0	0	211		211	208	1	1.870000	-3.319003	1	0.630000	NM_025151			153	152		447	425	0		1	0		0		211			1.000000	7.655763e-01		0		10		153	447
RP1	6101	broad.mit.edu	37	8	55533850	55533850	+	Silent	SNP	C	C	T	rs141074157	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:55533850C>T	ENST00000220676.1	+	2	472	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	108	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATGTTCCCACGGCAGGAAGG	0.682													C|||	2	0.000399361	0.0015	0.0	5008	,	,		12906	0.0		0.0	False		,,,				2504	0.0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1	1.000000	9.200000e-01	1.000000	0.990000	0.990000	0.993809	0.990000	1.000000																										0				169						c.(322-324)caC>caT		retinitis pigmentosa 1 (autosomal dominant)		C		2,4404	4.2+/-10.8	0,2,2201	51.0	51.0	51.0		324	1.1	0.1	8	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	RP1	NM_006269.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		108/2157	55533850	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6101	11	121412	41				g.chr8:55533850C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.324C>T	chr8.hg19:g.55533850C>T		0						p.H108H	NM_006269.1	NP_006260.1	0	0	0	2.050546	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)	2	472	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)		Silent	SNP	ENST00000220676.1	0	1	hg19	c.324C>T	CCDS6160.1	1																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.682	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	0	0	1		2	2		0		0	0	126		126	124	1	1.870000	-14.558440	1	0.630000	NM_006269			143	137		276	268	0		1	0		0		126			1.000000	1.169709e-01		0		2		143	276
CRISPLD1	83690	broad.mit.edu	37	8	75928804	75928804	+	Silent	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:75928804G>C	ENST00000262207.4	+	7	1200	c.732G>C	c.(730-732)ggG>ggC	p.G244G	CRISPLD1_ENST00000523524.1_Silent_p.G56G|CRISPLD1_ENST00000517786.1_Silent_p.G58G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	244					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAACAGAAGGGTCAGACAGGT	0.353																																						ENST00000262207.4	0.500000	3.100000e-01	0.450000	0.350000	0.390000	0.405835	0.390000	0.400000																										0				43						c.(730-732)ggG>ggC		cysteine-rich secretory protein LCCL domain containing 1							103.0	108.0	106.0					8																	75928804		2203	4300	6503	SO:0001819	synonymous_variant	83690	0	0					g.chr8:75928804G>C	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.732G>C	chr8.hg19:g.75928804G>C		0					CRISPLD1_ENST00000523524.1_Silent_p.G56G|CRISPLD1_ENST00000517786.1_Silent_p.G58G	p.G244G	NM_031461.5	NP_113649.1	0	0	0	2.050546	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)	7	1200	+	Breast(64;0.0799)		B2RA60|B7Z929	Silent	SNP	ENST00000262207.4	0	1	hg19	c.732G>C	CCDS6219.1	0																																																																																								0.625279		TCGA-FB-AAQ6-01A-11D-A40W-08	0.353	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	0	0	1		2	2		0		0	0	146		146	146	1	1.870000	-20.000000	1	0.630000	NM_031461			62	60		422	416	0		1	0		0		146			1.000000	2.277480e-01		0		7		62	422
FAM135B	51059	broad.mit.edu	37	8	139268947	139268947	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:139268947G>A	ENST00000395297.1	-	5	523	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	118										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCACTGTCCGTAAAGTGCAG	0.458										HNSCC(54;0.14)																												ENST00000395297.1	1.000000	1.500000e-01	0.410000	0.210000	0.280000	0.362512	0.280000	0.270000																										0				238						c.(352-354)aCg>aTg		family with sequence similarity 135, member B							106.0	102.0	103.0					8																	139268947		1973	4164	6137	SO:0001583	missense	51059	1	120916	32				g.chr8:139268947G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.353C>T	chr8.hg19:g.139268947G>A	ENSP00000378710:p.Thr118Met	1	HNSCC(54;0.14)					p.T118M	NM_015912.3	NP_056996.2	1	2	3	2.671199	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)	5	523	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	0	1	hg19	c.353C>T	CCDS6375.2	0	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569217	0.86439	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15834	2.39	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31613	-0.9937	10	0.46703	T	0.11	-10.4338	18.4074	0.90541	0.0:0.0:1.0:0.0	.	118	Q49AJ0	F135B_HUMAN	M	118	ENSP00000378710:T118M	ENSP00000160713:T118M	T	-	2	0	0	FAM135B	139338129	139338129	1.000000	0.71417	0.580000	0.28601	0.904000	0.53231	9.597000	0.98273	2.663000	0.90544	0.655000	0.94253	ACG	0.709588		TCGA-FB-AAQ6-01A-11D-A40W-08	0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	0	1		2	2		0		0	0	51		51	51	1	1.870000	-3.220807	1	0.630000	NM_015912			14	14		194	194	0		1			0		51			0.999786	0		0		0		14	194
JAK2	3717	broad.mit.edu	37	9	5064981	5064981	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr9:5064981A>G	ENST00000381652.3	+	9	1649	c.1155A>G	c.(1153-1155)aaA>aaG	p.K385K	JAK2_ENST00000539801.1_Silent_p.K385K|JAK2_ENST00000544510.1_Silent_p.K236K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	385					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACCTCTGTAAAGAAGTAGCAC	0.348		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3	1.000000	8.000000e-01	0.990000	0.870000	0.940000	0.935313	0.940000	0.990000		1		Dom	yes			Dom	yes		9	9p24	9p24	3717	T, Mis, O	Janus kinase 2				L	L	ETV6, PCM1, BCR		ALL, AML, MPD,  CML	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				32998						c.(1153-1155)aaA>aaG		Janus kinase 2	Ruxolitinib(DB08877)|Tofacitinib(DB08895)						83.0	80.0	81.0					9																	5064981		2203	4300	6503	SO:0001819	synonymous_variant	3717	0	0		Polycythemia Vera, Familial	Familial Cancer Database		g.chr9:5064981A>G		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1155A>G	chr9.hg19:g.5064981A>G		1					JAK2_ENST00000544510.1_Silent_p.K236K|JAK2_ENST00000539801.1_Silent_p.K385K	p.K385K	NM_004972.3	NP_004963.1	0	1	1	1.418992	O60674	JAK2_HUMAN		9	1649	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	O14636|O75297	Silent	SNP	ENST00000381652.3	0	1	hg19	c.1155A>G	CCDS6457.1	1																																																																																								0.459854		TCGA-FB-AAQ6-01A-11D-A40W-08	0.348	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	0	0	1		2	2		0		0	0	75		75	75	1	1.870000	-20.000000	1	0.630000				69	67		79	77	0		1	1		0		75			1.000000	8.512072e-01		6		0		69	79
AIFM1	9131	broad.mit.edu	37	X	129265770	129265770	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:129265770C>A	ENST00000287295.3	-	14	1683	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	485					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GGGCCCAAATCACTCCTAAGA	0.443																																						ENST00000287295.3	1.000000	8.600000e-01	0.980000	0.900000	0.940000	0.944458	0.940000	0.960000																										0				30						c.(1453-1455)Gat>Tat		apoptosis-inducing factor, mitochondrion-associated, 1	Flavin adenine dinucleotide(DB03147)						113.0	101.0	105.0					X																	129265770		2203	4300	6503	SO:0001583	missense	9131	0	0					g.chrX:129265770C>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1453G>T	chrX.hg19:g.129265770C>A	ENSP00000287295:p.Asp485Tyr						AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y|AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y	p.D485Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	0	1	1		O95831	AIFM1_HUMAN		14	1683	-			A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	0	1	hg19	c.1453G>T	CCDS14618.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819926	0.90873	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.85258	0.59;0.57;-1.96;0.6;-0.96	5.8	5.8	0.92144	5.8	5.8	0.92144	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95449	0.8532	10	0.87932	D	0	-18.3899	19.0045	0.92844	0.0:1.0:0.0:0.0	.	198;481;485	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	Y	146;198;481;133;485	ENSP00000431222:D146Y;ENSP00000316320:D198Y;ENSP00000315122:D481Y;ENSP00000405879:D133Y;ENSP00000287295:D485Y	ENSP00000287295:D485Y	D	-	1	0	0	AIFM1	129093451	129093451	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.487000	0.81328	2.436000	0.82500	0.600000	0.82982	GAT	0.630000		TCGA-FB-AAQ6-01A-11D-A40W-08	0.443	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2	0	0	1		2	2		0		0	0	111		111	110	1	1.870000	-20.000000	1	0.630000				186	183		122	118	0		1	1		0		111			1.000000	1		52		9		186	122
