#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AKR7A3	22977	broad.mit.edu	37	1	19611245	19611245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:19611245delG	ENST00000361640.4	-	5	1179	c.639delC	c.(637-639)gacfs	p.D213fs		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	213					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATTCTTGTCCTCATACT	0.597																																						uc001bbv.1																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(637-639)gacfs		Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.							111.0	120.0	117.0					1																	19611245		2199	4300	6499	SO:0001589	frameshift_variant	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19611245delG	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.639delC	1.37:g.19611245delG	ENSP00000355377:p.Asp213fs						p.D213fs	NM_012067	NP_036199	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	716	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	213					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Frame_Shift_Del	DEL	ENST00000361640.4	37	c.639delC	CCDS193.1																																																																																				0.597	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067	
SLC1A7	6512	broad.mit.edu	37	1	53559217	53559217	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:53559217C>T	ENST00000371494.4	-	6	840	c.713G>A	c.(712-714)cGc>cAc	p.R238H	SLC1A7_ENST00000488036.1_5'Flank	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	238					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GTCACCCATGCGGCCCAGCAT	0.617																																					NSCLC(128;80 1811 21245 38490 51715)	uc021onn.1																			0		p.R238C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(712-714)cGc>cAc		Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	L-Glutamic Acid(DB00142)						36.0	31.0	33.0					1																	53559217		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53559217C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.713G>A	1.37:g.53559217C>T	ENSP00000360549:p.Arg238His					SLC1A7_uc021onm.1_Missense_Mutation_p.R166H|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Missense_Mutation_p.R238H|SLC1A7_uc021ono.1_Non-coding_Transcript	p.R238H	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	5	881	-			238					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.713G>A	CCDS574.1	.	.	.	.	.	.	.	.	.	.	c	26.0	4.694434	0.88830	.	.	ENSG00000162383	ENST00000371494	T	0.59083	0.29	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	L	0.55103	1.725	0.80722	D	1	P	0.52842	0.956	P	0.52856	0.711	T	0.70443	-0.4870	10	0.62326	D	0.03	-30.2116	16.7911	0.85589	0.0:1.0:0.0:0.0	.	238	O00341	EAA5_HUMAN	H	238	ENSP00000360549:R238H	ENSP00000360549:R238H	R	-	2	0	SLC1A7	53331805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.871000	0.63042	1.944000	0.56390	0.586000	0.80456	CGC		0.617	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	
ODF2L	57489	broad.mit.edu	37	1	86838137	86838137	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:86838137T>A	ENST00000359242.3	-	9	1178	c.897A>T	c.(895-897)gaA>gaT	p.E299D	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.E299D|ODF2L_ENST00000394731.1_Missense_Mutation_p.E168D|ODF2L_ENST00000370566.3_Missense_Mutation_p.E299D|ODF2L_ENST00000370567.1_Missense_Mutation_p.E299D|ODF2L_ENST00000317336.7_Missense_Mutation_p.E299D	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	299						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAATCTGTACTTCCAATTCGG	0.259																																						uc001dll.2																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(895-897)gaA>gaT		Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.							20.0	20.0	20.0					1																	86838137		2181	4289	6470	SO:0001583	missense	57489					centrosome		g.chr1:86838137T>A		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.897A>T	1.37:g.86838137T>A	ENSP00000359600:p.Glu299Asp					ODF2L_uc001dlp.3_Missense_Mutation_p.E299D|ODF2L_uc010osg.2_Missense_Mutation_p.E299D|ODF2L_uc001dlm.2_Missense_Mutation_p.E299D|ODF2L_uc021opg.1_Missense_Mutation_p.E168D|ODF2L_uc001dlq.2_Missense_Mutation_p.E129D|ODF2L_uc009wcr.2_Missense_Mutation_p.E168D	p.E299D	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	8	1259	-			299					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.897A>T	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.71|19.71	3.878365|3.878365	0.72294|0.72294	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890|ENST00000459999	T;T;T;T;T;T;T;D|.	0.86865|.	1.57;1.52;1.61;1.55;1.57;1.62;1.56;-2.18|.	5.25|5.25	1.59|1.59	0.23543|0.23543	.|.	0.244317|.	0.40385|.	N|.	0.001110|.	T|T	0.33469|0.33469	0.0864|0.0864	M|M	0.66939|0.66939	2.045|2.045	0.29102|0.29102	N|N	0.881396|0.881396	D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.998;1.0|.	D;D;D;D;D;D|.	0.87578|.	0.994;0.993;0.981;0.981;0.99;0.998|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.49607|.	T|.	0.09|.	-16.0882|-16.0882	7.7373|7.7373	0.28821|0.28821	0.0:0.3449:0.0:0.6551|0.0:0.3449:0.0:0.6551	.|.	299;299;299;299;299;299|.	B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1|.	.;.;.;.;.;ODF2L_HUMAN|.	D|M	299;299;299;175;299;299;168;299;129|148	ENSP00000359597:E299D;ENSP00000359600:E299D;ENSP00000433092:E175D;ENSP00000320165:E299D;ENSP00000359598:E299D;ENSP00000378219:E168D;ENSP00000294678:E299D;ENSP00000432834:E129D|.	ENSP00000294678:E299D|.	E|K	-|-	3|2	2|0	ODF2L|ODF2L	86610725|86610725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.854000|0.854000	0.27791|0.27791	0.384000|0.384000	0.24942|0.24942	0.455000|0.455000	0.32223|0.32223	GAA|AAG		0.259	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
SPAG17	200162	broad.mit.edu	37	1	118574428	118574428	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:118574428C>A	ENST00000336338.5	-	25	3561	c.3496G>T	c.(3496-3498)Gtt>Ttt	p.V1166F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1166						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATAACAGGAACCACTGTTGGA	0.353																																						uc001ehk.2																			0		p.V1165V(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3496-3498)Gtt>Ttt		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							141.0	132.0	135.0					1																	118574428		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118574428C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3496G>T	1.37:g.118574428C>A	ENSP00000337804:p.Val1166Phe						p.V1166F	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	24	3564	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1166					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3496G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	7.861	0.726116	0.15439	.	.	ENSG00000155761	ENST00000336338	T	0.30981	1.51	5.52	-3.13	0.05266	.	0.907276	0.09553	N	0.786717	T	0.07954	0.0199	L	0.34521	1.04	0.09310	N	1	P	0.45474	0.859	B	0.40009	0.316	T	0.24225	-1.0166	10	0.28530	T	0.3	.	8.945	0.35753	0.0:0.4892:0.1144:0.3964	.	1166	Q6Q759	SPG17_HUMAN	F	1166	ENSP00000337804:V1166F	ENSP00000337804:V1166F	V	-	1	0	SPAG17	118375951	0.001000	0.12720	0.362000	0.25862	0.145000	0.21501	-0.435000	0.06931	-0.320000	0.08640	-0.136000	0.14681	GTT		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
FCER1A	2205	broad.mit.edu	37	1	159272655	159272655	+	Missense_Mutation	SNP	G	G	A	rs142162478		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:159272655G>A	ENST00000368115.1	+	3	166	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	FCER1A_ENST00000368114.1_Missense_Mutation_p.V23M	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	23					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCCAGATGGCGTGTTAGCAGG	0.463																																						uc001ftq.3																			0		p.G22V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(67-69)Gtg>Atg		Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	379.0	345.0	357.0		67	-0.9	0.0	1	dbSNP_134	357	0,8600		0,0,4300	no	missense	FCER1A	NM_002001.3	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	23/258	159272655	2,13004	2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159272655G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.67G>A	1.37:g.159272655G>A	ENSP00000357097:p.Val23Met						p.V23M	NM_002001	NP_001992	P12319	FCERA_HUMAN			2	164	+	all_hematologic(112;0.0429)		23						Missense_Mutation	SNP	ENST00000368115.1	37	c.67G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.047783	0.00398	4.54E-4	0.0	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02140	4.82;4.43	4.05	-0.9	0.10544	.	13.418400	0.00357	N	0.000022	T	0.00412	0.0013	N	0.01800	-0.715	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.48175	-0.9058	10	0.44086	T	0.13	.	7.3649	0.26768	0.5504:0.0:0.4496:0.0	.	23	P12319	FCERA_HUMAN	M	23	ENSP00000357097:V23M;ENSP00000357096:V23M	ENSP00000357096:V23M	V	+	1	0	FCER1A	157539279	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-1.447000	0.02396	-0.173000	0.10761	-0.302000	0.09304	GTG		0.463	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001	
PLA2G4A	5321	broad.mit.edu	37	1	186863266	186863266	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:186863266A>T	ENST00000367466.3	+	5	453	c.301A>T	c.(301-303)Act>Tct	p.T101S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T101S|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	101	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CATGGATGAAACTCTAGGGAC	0.328																																						uc001gsc.3																			0		p.E100*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(301-303)Act>Tct		Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						152.0	149.0	150.0					1																	186863266		2203	4298	6501	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186863266A>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.301A>T	1.37:g.186863266A>T	ENSP00000356436:p.Thr101Ser					PLA2G4A_uc010pos.2_Missense_Mutation_p.T101S	p.T101S	NM_024420	NP_077734	P47712	PA24A_HUMAN			4	506	+			101			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.301A>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	A	8.998	0.979444	0.18812	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.68331	-0.32;-0.32	5.71	5.71	0.89125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.096211	0.64402	D	0.000001	T	0.46210	0.1381	N	0.20845	0.615	0.22771	N	0.998758	B;B	0.13594	0.008;0.004	B;B	0.10450	0.005;0.004	T	0.27123	-1.0083	10	0.06757	T	0.87	-21.1401	10.4288	0.44395	0.8547:0.0:0.0:0.1453	.	101;101	E7EU42;P47712	.;PA24A_HUMAN	S	101	ENSP00000356436:T101S;ENSP00000406892:T101S	ENSP00000356436:T101S	T	+	1	0	PLA2G4A	185129889	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.638000	0.74309	2.171000	0.68590	0.528000	0.53228	ACT		0.328	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
MIA3	375056	broad.mit.edu	37	1	222833136	222833136	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:222833136A>G	ENST00000344922.5	+	22	4892	c.4867A>G	c.(4867-4869)Aga>Gga	p.R1623G	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R501G|MIA3_ENST00000344441.6_Missense_Mutation_p.R1623G|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1623					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGCCAATTTGAGACACAAGTA	0.358																																						uc001hnl.3																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4867-4869)Aga>Gga		Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.							107.0	104.0	105.0					1																	222833136		1818	4095	5913	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222833136A>G		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4867A>G	1.37:g.222833136A>G	ENSP00000340900:p.Arg1623Gly					MIA3_uc001hnm.3_Missense_Mutation_p.R501G	p.R1623G	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	21	4876	+			1623					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4867A>G	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708470	0.68615	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.57273	0.41;0.41;0.41	6.08	0.655	0.17839	.	.	.	.	.	T	0.74779	0.3761	M	0.88450	2.955	0.47949	D	0.999554	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.982	T	0.80708	-0.1262	9	0.72032	D	0.01	.	15.8334	0.78778	0.409:0.591:0.0:0.0	.	501;1623	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	G	1623;1623;1564;501;501	ENSP00000340900:R1623G;ENSP00000340587:R1623G;ENSP00000345866:R501G	ENSP00000284471:R501G	R	+	1	2	MIA3	220899759	0.988000	0.35896	0.351000	0.25721	0.882000	0.50991	0.663000	0.25053	0.133000	0.18654	0.533000	0.62120	AGA		0.358	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
ARMC4	55130	broad.mit.edu	37	10	28228843	28228843	+	Missense_Mutation	SNP	C	C	T	rs556371991		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:28228843C>T	ENST00000305242.5	-	14	2172	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	ARMC4_ENST00000537576.1_Missense_Mutation_p.A386T|ARMC4_ENST00000545014.1_Missense_Mutation_p.A219T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	694					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGGCCATGGCGCAGTGCTCC	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14088	0.0		0.0	False		,,,				2504	0.0					uc009xky.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2080-2082)Gcc>Acc		Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.							95.0	83.0	87.0					10																	28228843		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28228843C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2080G>A	10.37:g.28228843C>T	ENSP00000306410:p.Ala694Thr					ARMC4_uc010qds.2_Missense_Mutation_p.A219T|ARMC4_uc010qdt.2_Missense_Mutation_p.A386T|ARMC4_uc001itz.3_Missense_Mutation_p.A694T	p.A694T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			13	2178	-			694					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2080G>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378847	0.82682	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.68765	-0.35;-0.35;-0.35	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.044932	0.85682	D	0.000000	D	0.85265	0.5657	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.70487	0.937;0.969	D	0.85483	0.1180	10	0.38643	T	0.18	-18.3133	18.587	0.91194	0.0:1.0:0.0:0.0	.	219;694	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	T	386;694;219	ENSP00000443208:A386T;ENSP00000306410:A694T;ENSP00000441076:A219T	ENSP00000306410:A694T	A	-	1	0	ARMC4	28268849	1.000000	0.71417	0.982000	0.44146	0.771000	0.43674	4.543000	0.60684	2.809000	0.96659	0.655000	0.94253	GCC		0.458	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
HNRNPF	3185	broad.mit.edu	37	10	43882701	43882701	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:43882701T>C	ENST00000544000.1	-	4	1039	c.632A>G	c.(631-633)gAc>gGc	p.D211G	HNRNPF_ENST00000357065.4_Missense_Mutation_p.D211G|HNRNPF_ENST00000356053.3_Missense_Mutation_p.D211G|HNRNPF_ENST00000337970.3_Missense_Mutation_p.D211G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.D211G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	211					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCCGGGCCGGTCATAGGGCCC	0.592																																						uc009xmh.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(631-633)gAc>gGc		Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.							63.0	61.0	62.0					10																	43882701		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882701T>C		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.632A>G	10.37:g.43882701T>C	ENSP00000438061:p.Asp211Gly					HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|HNRNPF_uc021ppg.1_Missense_Mutation_p.D211G|HNRNPF_uc010qfa.1_Missense_Mutation_p.V128A	p.D211G	NM_001098208	NP_004957	P52597	HNRPF_HUMAN			2	1119	-			211					B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.632A>G	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098651	0.56183	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.24	3.11	0.35812	.	0.047201	0.85682	N	0.000000	T	0.16300	0.0392	M	0.75085	2.285	0.80722	D	1	B	0.25048	0.117	B	0.27715	0.082	T	0.02781	-1.1111	10	0.32370	T	0.25	-30.9973	8.1202	0.30967	0.0:0.0979:0.0:0.9021	.	211	P52597	HNRPF_HUMAN	G	211;211;211;211;211;134	ENSP00000438061:D211G;ENSP00000400433:D211G;ENSP00000348345:D211G;ENSP00000349573:D211G;ENSP00000338477:D211G	ENSP00000338477:D211G	D	-	2	0	HNRNPF	43202707	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.198000	0.77823	0.973000	0.38340	0.533000	0.62120	GAC		0.592	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2		
PTEN	5728	broad.mit.edu	37	10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T	rs190070312		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:89717695_89717696insT	ENST00000371953.3	+	7	2077_2078	c.720_721insT	c.(721-723)tttfs	p.F241fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	241	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		F -> S (in MCEPHAS). {ECO:0000269|PubMed:15805158}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.Y240*(3)|p.F241L(2)|p.F241S(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241fs*1(2)|p.F241fs*17(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*15(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(718-723)tactttfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717695_89717696insT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.723dupT	10.37:g.89717698_89717698dupT	ENSP00000361021:p.Phe241fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.Y240fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1752_1753	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	240			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.720_721insT	CCDS31238.1																																																																																				0.411	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PI4K2A	55361	broad.mit.edu	37	10	99426254	99426254	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:99426254G>T	ENST00000370631.3	+	7	1201	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	PI4K2A_ENST00000370649.3_Missense_Mutation_p.D352Y|PI4K2A_ENST00000555577.1_Missense_Mutation_p.D352Y	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	382	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GGAGATCAAAGATCTGATCCT	0.468																																						uc001kog.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(1144-1146)Gat>Tat		Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.							79.0	76.0	77.0					10																	99426254		2203	4300	6503	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99426254G>T	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1144G>T	10.37:g.99426254G>T	ENSP00000359665:p.Asp382Tyr					PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron	p.D382Y	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	6	1201	+		Colorectal(252;0.162)	382			PI3K/PI4K.		D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.1144G>T	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567143	0.65651	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77098	-1.07;-1.07;-1.07	5.28	5.28	0.74379	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.154565	0.56097	D	0.000027	D	0.89656	0.6778	M	0.86864	2.845	0.80722	D	1	D;P	0.60160	0.987;0.953	D;P	0.68192	0.956;0.863	D	0.91338	0.5095	10	0.87932	D	0	-8.7751	18.9307	0.92564	0.0:0.0:1.0:0.0	.	352;382	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	Y	352;382;352	ENSP00000452243:D352Y;ENSP00000359665:D382Y;ENSP00000359683:D352Y	ENSP00000359665:D382Y	D	+	1	0	PI4K2A;RP11-548K23.11	99416244	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.469000	0.83416	0.655000	0.94253	GAT		0.468	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1	NM_018425	
BTRC	8945	broad.mit.edu	37	10	103190197	103190197	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:103190197C>T	ENST00000370187.3	+	2	262	c.144C>T	c.(142-144)ctC>ctT	p.L48L	BTRC_ENST00000393441.4_Silent_p.L33L|BTRC_ENST00000408038.2_Intron	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGCGCACTCACAGCTTTCC	0.527																																						uc001kta.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(142-144)ctC>ctT		Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.							124.0	105.0	112.0					10																	103190197		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103190197C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.144C>T	10.37:g.103190197C>T						BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.3_Intron|BTRC_uc001ktc.3_Silent_p.L48L	p.L48L	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	1	257	+		Colorectal(252;0.234)	48					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.144C>T	CCDS7512.1																																																																																				0.527	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
DMBT1	1755	broad.mit.edu	37	10	124345651	124345651	+	Missense_Mutation	SNP	G	G	A	rs374635240		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:124345651G>A	ENST00000338354.3	+	16	1641	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DMBT1_ENST00000368909.3_Missense_Mutation_p.R512Q|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R502Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R502Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	512	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCCTGG	0.592																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1534-1536)cGa>cAa		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.		G	,GLN/ARG,GLN/ARG	1,4029		0,1,2014	305.0	232.0	256.0		,1535,1505	-6.9	0.0	10		256	2,8312		1,0,4156	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,43,43	1,1,6170	AA,AG,GG		0.0241,0.0248,0.0243	,possibly-damaging,possibly-damaging	,512/2414,502/2404	124345651	3,12341	2015	4157	6172	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345651G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1535G>A	10.37:g.124345651G>A	ENSP00000342210:p.Arg512Gln					DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R512Q|DMBT1_uc021qag.1_Missense_Mutation_p.R502Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	p.R512Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			15	1641	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	512			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.1535G>A		.	.	.	.	.	.	.	.	.	.	G	3.062	-0.192939	0.06259	2.48E-4	2.41E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.5	-6.89	0.01660	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.09202	0.0227	N	0.01817	-0.705	0.09310	N	1	B;B;B	0.21821	0.049;0.049;0.061	B;B;B	0.15484	0.008;0.008;0.013	T	0.43426	-0.9392	9	0.02654	T	1	.	15.0918	0.72201	0.3746:0.0:0.6254:0.0	.	512;502;512	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Q	512;512;512;512;512;512;502;512;502	ENSP00000342210:R512Q;ENSP00000343175:R502Q;ENSP00000357905:R512Q;ENSP00000357951:R502Q	ENSP00000342210:R512Q	R	+	2	0	DMBT1	124335641	0.000000	0.05858	0.001000	0.08648	0.957000	0.61999	-1.335000	0.02662	-1.396000	0.02071	0.456000	0.33151	CGA		0.592	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
TRIM6	117854	broad.mit.edu	37	11	5625849	5625849	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:5625849C>A	ENST00000278302.5	+	3	649	c.509C>A	c.(508-510)aCa>aAa	p.T170K	TRIM6_ENST00000506134.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.T198K|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.T144K|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000380097.3_Missense_Mutation_p.T198K	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	170					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGAAGAAAACATCCTGGAAG	0.468																																						uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(592-594)aCa>aAa		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							107.0	107.0	107.0					11																	5625849		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5625849C>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.509C>A	11.37:g.5625849C>A	ENSP00000278302:p.Thr170Lys					HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.T144K|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.T170K|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.T198K|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	p.T198K	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	2	856	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	198					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.593C>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474461	0.26423	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000396867;ENST00000337072;ENST00000354852	T;T;T;T	0.26373	3.62;3.62;3.62;1.74	4.92	-2.22	0.06952	.	.	.	.	.	T	0.22166	0.0534	M	0.68317	2.08	0.09310	N	1	B;B;B;B	0.31174	0.311;0.038;0.279;0.112	B;B;B;B	0.35182	0.197;0.016;0.058;0.026	T	0.35599	-0.9782	9	0.37606	T	0.19	.	0.9007	0.01273	0.1525:0.3014:0.2795:0.2666	.	144;198;198;170	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	K	170;144;198;77;198;198	ENSP00000278302:T170K;ENSP00000369450:T144K;ENSP00000369440:T198K;ENSP00000346916:T198K	ENSP00000278302:T170K	T	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5582425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.691000	0.05133	-0.171000	0.10797	-0.136000	0.14681	ACA		0.468	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
COPB1	1315	broad.mit.edu	37	11	14498486	14498486	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:14498486C>A	ENST00000249923.3	-	12	1734	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Missense_Mutation_p.E478D|COPB1_ENST00000526191.1_5'Flank	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	478					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACCTGCGGATCTCAGTCATCA	0.373																																						uc001mlh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1432-1434)gaG>gaT		Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.							172.0	158.0	163.0					11																	14498486		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14498486C>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1434G>T	11.37:g.14498486C>A	ENSP00000249923:p.Glu478Asp					COPB1_uc001mli.2_Missense_Mutation_p.E478D|COPB1_uc001mlg.2_Missense_Mutation_p.E478D|U7_uc021qee.1_5'Flank	p.E478D	NM_001144061	NP_057535	P53618	COPB_HUMAN			11	1680	-			478					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1434G>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019414	0.54576	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.22945	1.93;1.93;1.93	5.63	-3.3	0.05003	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.77103	2.36	0.54753	D	0.999984	P	0.34864	0.473	B	0.42062	0.374	T	0.33548	-0.9864	10	0.30854	T	0.27	-1.0308	14.2809	0.66211	0.0:0.3371:0.0:0.6629	.	478	P53618	COPB_HUMAN	D	478	ENSP00000249923:E478D;ENSP00000397873:E478D;ENSP00000436383:E478D	ENSP00000249923:E478D	E	-	3	2	COPB1	14455062	0.986000	0.35501	0.982000	0.44146	0.987000	0.75469	0.223000	0.17719	-0.378000	0.07918	-0.345000	0.07892	GAG		0.373	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	
KCNA4	3739	broad.mit.edu	37	11	30033178	30033178	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:30033178A>T	ENST00000328224.6	-	2	2281	c.1048T>A	c.(1048-1050)Ttg>Atg	p.L350M	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	350					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCATTCAACAACCCACCATGC	0.478																																						uc021qfi.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1048-1050)Ttg>Atg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.							84.0	77.0	80.0					11																	30033178		2024	4188	6212	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033178A>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1048T>A	11.37:g.30033178A>T	ENSP00000328511:p.Leu350Met					KCNA4_uc001msk.3_Missense_Mutation_p.L350M	p.L350M	NM_002233	NP_002224	P22459	KCNA4_HUMAN			0	1048	-			350						Missense_Mutation	SNP	ENST00000328224.6	37	c.1048T>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	A	2.272	-0.366836	0.05069	.	.	ENSG00000182255	ENST00000328224	D	0.96856	-4.15	5.43	-3.6	0.04570	.	6.471320	0.00166	N	0.000002	D	0.91136	0.7209	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.82458	-0.0447	10	0.44086	T	0.13	.	4.7225	0.12926	0.1634:0.1145:0.5121:0.21	.	350	P22459	KCNA4_HUMAN	M	350	ENSP00000328511:L350M	ENSP00000328511:L350M	L	-	1	2	KCNA4	29989754	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-0.452000	0.06787	-0.183000	0.10585	-0.250000	0.11733	TTG		0.478	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
LRP4	4038	broad.mit.edu	37	11	46900805	46900805	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:46900805T>C	ENST00000378623.1	-	21	3118	c.2876A>G	c.(2875-2877)tAt>tGt	p.Y959C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	959					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCAGTCCAATAGATGCGCTC	0.567																																						uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2875-2877)tAt>tGt		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.							73.0	74.0	73.0					11																	46900805		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46900805T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2876A>G	11.37:g.46900805T>C	ENSP00000367888:p.Tyr959Cys						p.Y959C	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	20	3119	-			959					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2876A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228125	0.79576	.	.	ENSG00000134569	ENST00000378623	D	0.99304	-5.72	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.95611	3.695	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.98335	1.0535	10	0.87932	D	0	.	11.6354	0.51200	0.133:0.0:0.0:0.867	.	959	O75096	LRP4_HUMAN	C	959	ENSP00000367888:Y959C	ENSP00000367888:Y959C	Y	-	2	0	LRP4	46857381	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.124000	0.71620	2.217000	0.71921	0.379000	0.24179	TAT		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
MS4A15	219995	broad.mit.edu	37	11	60531221	60531221	+	Silent	SNP	C	C	T	rs372949576		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:60531221C>T	ENST00000405633.3	+	2	94	c.15C>T	c.(13-15)ccC>ccT	p.P5P	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Silent_p.P5P	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	5						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CTGCAGCTCCCGCCAGCAATG	0.527																																						uc009ynf.1																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(13-15)ccC>ccT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.		C	,	0,4086		0,0,2043	86.0	85.0	85.0		15,	-4.2	0.2	11		85	1,8375		0,1,4187	no	coding-synonymous,intron	MS4A15	NM_001098835.1,NM_152717.2	,	0,1,6230	TT,TC,CC		0.0119,0.0,0.0080	,	5/241,	60531221	1,12461	2043	4188	6231	SO:0001819	synonymous_variant	219995					integral to membrane	receptor activity	g.chr11:60531221C>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.15C>T	11.37:g.60531221C>T						MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Silent_p.P5P	p.P5P	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN			1	235	+			5					A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	ENST00000405633.3	37	c.15C>T	CCDS44617.1																																																																																				0.527	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1		
PGA5	5222	broad.mit.edu	37	11	61018718	61018718	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:61018718G>A	ENST00000312403.5	+	9	1317	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T	PGA5_ENST00000541528.1_Missense_Mutation_p.A118T|PGA5_ENST00000451616.2_Missense_Mutation_p.A224T|PGA4_ENST00000422676.2_Missense_Mutation_p.A378T|CTD-2331C18.5_ENST00000537594.1_RNA	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	378					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						CTTCGACAGGGCAAACAACCA	0.557																																						uc001nqz.3																			0				large_intestine(1)|skin(1)	2						c.(1132-1134)Gca>Aca		Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.							140.0	138.0	138.0					11																	61018718		2202	4299	6501	SO:0001583	missense	5222				digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr11:61018718G>A	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1132G>A	11.37:g.61018718G>A	ENSP00000309542:p.Ala378Thr						p.A378T	NM_014224	NP_055039	P00790	PEPA_HUMAN			8	1187	+			378					A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000312403.5	37	c.1132G>A	CCDS8001.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663179	0.67700	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000544083;ENST00000451616;ENST00000541528	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	2.78	2.78	0.32641	.	0.627594	0.14532	U	0.313782	T	0.51736	0.1692	L	0.60845	1.875	0.22096	N	0.999362	B	0.27286	0.174	B	0.29862	0.108	T	0.51180	-0.8738	10	0.62326	D	0.03	.	7.7238	0.28748	0.126:0.0:0.874:0.0	.	378	B7ZW62	.	T	378;378;239;224;118	ENSP00000395402:A378T;ENSP00000309542:A378T;ENSP00000408739:A224T;ENSP00000441981:A118T	ENSP00000395402:A378T	A	+	1	0	PGA4;PGA5	60775294	0.379000	0.25123	0.020000	0.16555	0.846000	0.48090	3.512000	0.53407	1.918000	0.55548	0.420000	0.28162	GCA		0.557	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224	
MMP27	64066	broad.mit.edu	37	11	102573550	102573550	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:102573550G>A	ENST00000260229.4	-	4	644	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	185					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CCCGGACCAGGAGGAAAGGCA	0.458																																						uc001phd.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(553-555)Cct>Tct		Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.							83.0	87.0	85.0					11																	102573550		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102573550G>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.553C>T	11.37:g.102573550G>A	ENSP00000260229:p.Pro185Ser						p.P185S	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	3	576	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	185					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.553C>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078797	0.94050	.	.	ENSG00000137675	ENST00000260229	T	0.29917	1.55	5.7	5.7	0.88788	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.72431	0.3459	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82639	-0.0358	10	0.87932	D	0	.	19.8201	0.96590	0.0:0.0:1.0:0.0	.	185	Q9H306	MMP27_HUMAN	S	185	ENSP00000260229:P185S	ENSP00000260229:P185S	P	-	1	0	MMP27	102078760	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.693000	0.91896	0.563000	0.77884	CCT		0.458	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
DSCAML1	57453	broad.mit.edu	37	11	117342628	117342628	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:117342628C>T	ENST00000321322.6	-	15	3090	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R760H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	970	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTTCACTGCGGCCAATCTT	0.587																																						uc001prh.1																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3088-3090)cGc>cAc		Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.							159.0	137.0	145.0					11																	117342628		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117342628C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3089G>A	11.37:g.117342628C>T	ENSP00000315465:p.Arg1030His						p.R1030H	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	14	3091	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	970			Fibronectin type-III 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3089G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555274	0.65425	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57436	0.4;0.4	4.07	4.07	0.47477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56891	0.2016	L	0.48642	1.525	0.49389	D	0.999787	P	0.48834	0.916	P	0.50860	0.652	T	0.60342	-0.7282	9	0.46703	T	0.11	.	16.4552	0.84009	0.0:1.0:0.0:0.0	.	970	Q8TD84	DSCL1_HUMAN	H	760;1030;737	ENSP00000434335:R760H;ENSP00000315465:R1030H	ENSP00000315465:R1030H	R	-	2	0	DSCAML1	116847838	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.587000	0.36622	2.075000	0.62263	0.455000	0.32223	CGC		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
DPPA3	359787	broad.mit.edu	37	12	7869602	7869602	+	Missense_Mutation	SNP	G	G	A	rs571145972		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:7869602G>A	ENST00000345088.2	+	4	526	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	137					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.V137M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGTTTCTGCGTGTCTAATGG	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					uc001qtf.3																			1	Substitution - Missense(1)	p.V137M(2)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8						c.(409-411)Gtg>Atg		Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.							92.0	97.0	95.0					12																	7869602		2203	4300	6503	SO:0001583	missense	359787					cytoplasm|nucleus		g.chr12:7869602G>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.409G>A	12.37:g.7869602G>A	ENSP00000339250:p.Val137Met						p.V137M	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	3	487	+			137					Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	c.409G>A	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	2.024	-0.423942	0.04734	.	.	ENSG00000187569	ENST00000345088	T	0.45276	0.9	2.45	-0.626	0.11544	.	.	.	.	.	T	0.28764	0.0713	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	P	0.49683	0.619	T	0.16482	-1.0401	9	0.41790	T	0.15	.	5.7928	0.18369	0.1712:0.5325:0.2963:0.0	.	137	Q6W0C5	DPPA3_HUMAN	M	137	ENSP00000339250:V137M	ENSP00000339250:V137M	V	+	1	0	DPPA3	7760869	0.022000	0.18835	0.000000	0.03702	0.008000	0.06430	-0.121000	0.10643	-0.160000	0.11002	-0.448000	0.05591	GTG		0.378	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286	
CLEC4E	26253	broad.mit.edu	37	12	8689778	8689778	+	Missense_Mutation	SNP	G	G	A	rs201571010		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:8689778G>A	ENST00000299663.3	-	4	470	c.305C>T	c.(304-306)gCg>gTg	p.A102V	CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	102	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TAAACTTAACGCCCAGGAAAT	0.458																																						uc001quo.1																			0		p.W101C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(304-306)gCg>gTg		Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.							92.0	88.0	90.0					12																	8689778		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8689778G>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.305C>T	12.37:g.8689778G>A	ENSP00000299663:p.Ala102Val						p.A102V	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			3	470	-	Lung SC(5;0.184)		102			C-type lectin.		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.305C>T	CCDS8594.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	1.813|1.813	-0.474098|-0.474098	0.04414|0.04414	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000299663|ENST00000537698	T|.	0.61742|.	0.08|.	5.23|5.23	0.096|0.096	0.14488|0.14488	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	1.894880|.	0.02358|.	N|.	0.076622|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	10|5	0.29301|.	T|.	0.29|.	.|.	1.6067|1.6067	0.02685|0.02685	0.2418:0.1407:0.4725:0.145|0.2418:0.1407:0.4725:0.145	.|.	102|.	Q9ULY5|.	CLC4E_HUMAN|.	V|C	102|42	ENSP00000299663:A102V|.	ENSP00000299663:A102V|.	A|R	-|-	2|1	0|0	CLEC4E|CLEC4E	8581045|8581045	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.029000|0.029000	0.13666|0.13666	-0.066000|-0.066000	0.12998|0.12998	-0.216000|-0.216000	0.12614|0.12614	GCG|CGT		0.458	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358	
ABCC9	10060	broad.mit.edu	37	12	21991021	21991021	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:21991021C>T	ENST00000261201.4	-	28	3556	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1150Q|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1186Q|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1186	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1186L(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCTAAAGGCCCGAATGGTGGT	0.423																																						uc001rfh.3																			2	Substitution - Missense(2)	p.R1186L(3)	lung(2)	NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3556-3558)cGg>cAg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						108.0	107.0	107.0					12																	21991021		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21991021C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3557G>A	12.37:g.21991021C>T	ENSP00000261201:p.Arg1186Gln					ABCC9_uc001rfi.1_Missense_Mutation_p.R1186Q	p.R1186Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN			27	3577	-			1186			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3557G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416048	0.96092	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.31	5.31	0.75309	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	H	0.95645	3.7	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.99075	1.0835	10	0.87932	D	0	-15.0723	19.1802	0.93620	0.0:1.0:0.0:0.0	.	1186;1186	O60706;O60706-2	ABCC9_HUMAN;.	Q	1186;813;1186;1150	ENSP00000261200:R1186Q;ENSP00000440521:R813Q;ENSP00000261201:R1186Q;ENSP00000261202:R1150Q	ENSP00000261200:R1186Q	R	-	2	0	ABCC9	21882288	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.638000	0.83328	2.748000	0.94277	0.650000	0.86243	CGG		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ADCY6	112	broad.mit.edu	37	12	49164592	49164592	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49164592C>T	ENST00000307885.4	-	19	3907	c.3213G>A	c.(3211-3213)aaG>aaA	p.K1071K	ADCY6_ENST00000550422.1_Silent_p.K1018K|ADCY6_ENST00000357869.3_Silent_p.K1018K|MIR4701_ENST00000583094.1_RNA	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1071					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CATTGATGTGCTTCATCTGCT	0.552																																						uc001rsh.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(3211-3213)aaG>aaA		Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.							121.0	115.0	117.0					12																	49164592		2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49164592C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3213G>A	12.37:g.49164592C>T						ADCY6_uc001rsi.4_Silent_p.K1018K|ADCY6_uc001rsj.4_Silent_p.K1071K|ADCY6_uc010slw.1_3'UTR	p.K1071K	NM_015270	NP_056085	O43306	ADCY6_HUMAN			18	3873	-			1071					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.3213G>A	CCDS8767.1																																																																																				0.552	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983	
CACNB3	784	broad.mit.edu	37	12	49221583	49221583	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49221583G>A	ENST00000301050.2	+	13	1555	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_ENST00000540990.1_Silent_p.G439G|CACNB3_ENST00000536187.2_Silent_p.G451G|CACNB3_ENST00000547230.1_Silent_p.G411G|CACNB3_ENST00000547392.1_Silent_p.G425G	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	452					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(1354-1356)ggG>ggA		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						88.0	82.0	84.0					12																	49221583		2203	4300	6503	SO:0001819	synonymous_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221583G>A		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1356G>A	12.37:g.49221583G>A						CACNB3_uc010sly.2_Silent_p.G439G|CACNB3_uc010slz.2_Silent_p.G451G|CACNB3_uc001rsk.2_Silent_p.G299G|CACNB3_uc021qxm.1_Silent_p.G411G	p.G452G	NM_000725	NP_000716	P54284	CACB3_HUMAN			12	1815	+			452					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	c.1356G>A	CCDS8769.1																																																																																				0.622	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		
TUBA1B	10376	broad.mit.edu	37	12	49523423	49523423	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49523423C>T	ENST00000336023.5	-	2	180	c.86G>A	c.(85-87)gGc>gAc	p.G29D	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	29					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGGCTGGATGCCGTGTTCCAG	0.582																																						uc001rtm.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						c.(85-87)gGc>gAc		Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.							80.0	73.0	76.0					12																	49523423		2203	4296	6499	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523423C>T	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.86G>A	12.37:g.49523423C>T	ENSP00000336799:p.Gly29Asp					TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_5'UTR	p.G29D	NM_006082	NP_006073	P68363	TBA1B_HUMAN			1	307	-			29					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.86G>A	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	c	13.10	2.136803	0.37728	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.70869	-0.52;-0.52	4.95	4.95	0.65309	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.46145	U	0.000308	D	0.89560	0.6750	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93142	0.6542	10	0.72032	D	0.01	.	16.9469	0.86232	0.0:1.0:0.0:0.0	.	29	P68363	TBA1B_HUMAN	D	29	ENSP00000336799:G29D;ENSP00000449325:G29D	ENSP00000336799:G29D	G	-	2	0	TUBA1B	47809690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.747000	0.85070	2.283000	0.76528	0.655000	0.94253	GGC		0.582	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082	
KRT1	3848	broad.mit.edu	37	12	53072002	53072002	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:53072002T>C	ENST00000252244.3	-	3	870	c.812A>G	c.(811-813)gAg>gGg	p.E271G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	271	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GATTTCATCCTCATACCTGCA	0.403																																						uc001sau.1																			0		p.E271Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(811-813)gAg>gGg		Homo sapiens keratin 1 (KRT1), mRNA.							122.0	98.0	106.0					12																	53072002		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53072002T>C	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.812A>G	12.37:g.53072002T>C	ENSP00000252244:p.Glu271Gly					KRT1_uc001sav.1_Missense_Mutation_p.E271G	p.E271G	NM_006121	NP_006112	P04264	K2C1_HUMAN			2	871	-			271			Coil 1B.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.812A>G	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439340	0.83885	.	.	ENSG00000167768	ENST00000252244	D	0.90004	-2.6	5.17	5.17	0.71159	Filament (1);	.	.	.	.	D	0.96790	0.8952	H	0.98525	4.255	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.98429	1.0581	9	0.87932	D	0	.	15.3165	0.74085	0.0:0.0:0.0:1.0	.	271	P04264	K2C1_HUMAN	G	271	ENSP00000252244:E271G	ENSP00000252244:E271G	E	-	2	0	KRT1	51358269	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.037000	0.88933	2.084000	0.62774	0.533000	0.62120	GAG		0.403	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
TRHDE	29953	broad.mit.edu	37	12	73046818	73046818	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:73046818T>A	ENST00000261180.4	+	17	2827	c.2731T>A	c.(2731-2733)Tct>Act	p.S911T		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	911					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTCACTGAATTCTGAGGTGGT	0.343																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2731-2733)Tct>Act		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							78.0	77.0	78.0					12																	73046818		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046818T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2731T>A	12.37:g.73046818T>A	ENSP00000261180:p.Ser911Thr						p.S911T	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			16	2761	+			911					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2731T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731181	0.69189	.	.	ENSG00000072657	ENST00000261180	T	0.05786	3.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.39514	1.22	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.10268	-1.0637	10	0.21540	T	0.41	.	15.5533	0.76170	0.0:0.0:0.0:1.0	.	911	Q9UKU6	TRHDE_HUMAN	T	911	ENSP00000261180:S911T	ENSP00000261180:S911T	S	+	1	0	TRHDE	71333085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.087000	0.62958	0.533000	0.62120	TCT		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
NUDT4	11163	broad.mit.edu	37	12	93792556	93792556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:93792556C>T	ENST00000415493.2	+	4	692	c.265C>T	c.(265-267)Cga>Tga	p.R89*	NUDT4_ENST00000548662.1_Nonsense_Mutation_p.R37*|NUDT4_ENST00000337179.5_Nonsense_Mutation_p.R90*|NUDT4_ENST00000547014.1_Nonsense_Mutation_p.R38*|NUDT4_ENST00000549992.1_Nonsense_Mutation_p.R37*	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	89	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.|Substrate binding. {ECO:0000250}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						GAACCAAGACCGAAAGCACAG	0.343																																						uc010sup.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(268-270)Cga>Tga		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.							93.0	91.0	92.0					12																	93792556		2203	4300	6503	SO:0001587	stop_gained	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93792556C>T	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.265C>T	12.37:g.93792556C>T	ENSP00000406612:p.Arg89*					NUDT4_uc001tcm.3_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.3_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.2_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.3_Nonsense_Mutation_p.R37*	p.R90*	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN			3	666	+			89			Nudix hydrolase.|Substrate binding (By similarity).		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Nonsense_Mutation	SNP	ENST00000415493.2	37	c.268C>T	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851048	0.97023	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000550056;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	.	.	.	5.23	5.23	0.72850	.	0.055271	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.6654	14.0527	0.64747	0.1509:0.8491:0.0:0.0	.	.	.	.	X	90;89;37;37;37;38;37	.	ENSP00000338352:R90X	R	+	1	2	NUDT4	92316687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.616000	0.36933	2.587000	0.87381	0.561000	0.74099	CGA		0.343	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094	
MTERF2	80298	broad.mit.edu	37	12	107371336	107371336	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:107371336C>T	ENST00000552029.1	-	2	3225	c.1157G>A	c.(1156-1158)tGa>tAa	p.*386*	MTERFD3_ENST00000392830.2_Silent_p.*386*|MTERFD3_ENST00000240050.4_Silent_p.*386*|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCAGTATGTCATTCTTCAAC	0.358																																						uc001tme.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1156-1158)tGa>tAa		Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.							87.0	85.0	86.0					12																	107371336		2202	4300	6502	SO:0001819	synonymous_variant	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371336C>T																												ENST00000552029.1:c.1157G>A	12.37:g.107371336C>T						MTERFD3_uc001tmf.1_Silent_p.*386*|MTERFD3_uc001tmg.1_Silent_p.*386*|MTERFD3_uc021rdh.1_Splice_Site_p.*386_splice|MTERFD3_uc001tmh.1_Splice_Site	p.*386*	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			1	2976	-			0					Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	c.1157G>A	CCDS9111.1																																																																																				0.358	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1		
WSCD2	9671	broad.mit.edu	37	12	108603986	108603986	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:108603986G>A	ENST00000332082.4	+	5	1404	c.586G>A	c.(586-588)Gac>Aac	p.D196N	WSCD2_ENST00000549903.1_Missense_Mutation_p.D196N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D196N|WSCD2_ENST00000547525.1_Missense_Mutation_p.D196N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	196	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCAGAGTGCGACATGGAGTG	0.682																																						uc001tms.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(586-588)Gac>Aac		Homo sapiens WSC domain containing 2 (WSCD2), mRNA.							30.0	37.0	35.0					12																	108603986		2202	4296	6498	SO:0001583	missense	9671					integral to membrane		g.chr12:108603986G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.586G>A	12.37:g.108603986G>A	ENSP00000331933:p.Asp196Asn					WSCD2_uc001tmt.3_Missense_Mutation_p.D196N	p.D196N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			3	1330	+			196			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.586G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	9.532	1.111142	0.20714	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.12	4.1	0.47936	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.194437	0.52532	D	0.000071	T	0.09512	0.0234	N	0.00223	-1.815	0.33700	D	0.614425	B	0.02656	0.0	B	0.04013	0.001	T	0.38286	-0.9668	10	0.02654	T	1	-41.0544	3.9934	0.09548	0.3227:0.0:0.6773:0.0	.	196	Q2TBF2	WSCD2_HUMAN	N	196;196;43;196;196	ENSP00000448047:D196N;ENSP00000261400:D196N;ENSP00000446744:D43N;ENSP00000331933:D196N;ENSP00000447272:D196N	ENSP00000261400:D196N	D	+	1	0	WSCD2	107128116	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.875000	0.75551	2.379000	0.81126	0.555000	0.69702	GAC		0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
TUBA3C	7278	broad.mit.edu	37	13	19752451	19752451	+	Missense_Mutation	SNP	C	C	T	rs145210942		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:19752451C>T	ENST00000400113.3	-	3	414	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	104					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGCCTCTGGCGTAATTATTG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21498	0.0		0.0	False		,,,				2504	0.0					uc009zzj.3																			0		p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(310-312)Gcc>Acc		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.		C	THR/ALA	0,4406		0,0,2203	210.0	177.0	188.0		310	0.6	1.0	13	dbSNP_134	188	3,8597	3.0+/-9.4	0,3,4297	no	missense	TUBA3C	NM_006001.2	58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	104/451	19752451	3,13003	2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752451C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.310G>A	13.37:g.19752451C>T	ENSP00000382982:p.Ala104Thr						p.A104T	NM_006001	NP_525125	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	415	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	104					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.310G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	11.68	1.710514	0.30322	0.0	3.49E-4	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.73681	-0.77	1.53	0.64	0.17752	.	0.000000	0.46758	U	0.000267	T	0.75443	0.3850	.	.	.	0.40388	D	0.979516	.	.	.	.	.	.	T	0.73216	-0.4053	7	0.87932	D	0	.	6.1161	0.20127	0.0:0.8145:0.0:0.1855	.	.	.	.	T	104	ENSP00000382982:A104T	ENSP00000354037:A104T	A	-	1	0	TUBA3C	18650451	1.000000	0.71417	0.959000	0.39883	0.923000	0.55619	4.690000	0.61731	0.203000	0.20529	0.423000	0.28283	GCC		0.532	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
FLT3	2322	broad.mit.edu	37	13	28636176	28636176	+	Missense_Mutation	SNP	C	C	T	rs572460566		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:28636176C>T	ENST00000241453.7	-	3	277	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	FLT3_ENST00000380982.4_Missense_Mutation_p.A66T|FLT3_ENST00000537084.1_Missense_Mutation_p.A66T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	66					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCTCAACGCACACCCGAGG	0.532			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.3				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0		p.A66A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(196-198)Gcg>Acg		Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						91.0	91.0	91.0					13																	28636176		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636176C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.196G>A	13.37:g.28636176C>T	ENSP00000241453:p.Ala66Thr					FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.A66T	p.A66T	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	2	278	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	66					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.196G>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	4.805	0.149761	0.09185	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77620	-1.05;-1.11;-0.84	5.78	2.18	0.27775	.	0.840124	0.10723	N	0.641475	T	0.56949	0.2020	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.36744	-0.9735	10	0.12430	T	0.62	.	1.7797	0.03029	0.2588:0.4815:0.1158:0.1438	.	66;66	P36888-2;P36888	.;FLT3_HUMAN	T	66	ENSP00000241453:A66T;ENSP00000370369:A66T;ENSP00000438139:A66T	ENSP00000241453:A66T	A	-	1	0	FLT3	27534176	0.004000	0.15560	0.100000	0.21137	0.361000	0.29550	0.374000	0.20501	0.158000	0.19367	0.557000	0.71058	GCG		0.532	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
SUCLA2	8803	broad.mit.edu	37	13	48571116	48571116	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:48571116C>T	ENST00000378654.3	-	2	189	c.133G>A	c.(133-135)Gta>Ata	p.V45I	SUCLA2_ENST00000534875.1_5'UTR|SUCLA2_ENST00000543413.1_5'UTR|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	45					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TGCTGCTGTACTTGGAGTCCA	0.403																																						uc001vbs.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(133-135)Gta>Ata		Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)						81.0	76.0	77.0					13																	48571116		2203	4298	6501	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48571116C>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.133G>A	13.37:g.48571116C>T	ENSP00000367923:p.Val45Ile					SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR	p.V45I	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	1	190	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	45					B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.133G>A	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	12.86	2.064888	0.36470	.	.	ENSG00000136143	ENST00000378654	T	0.68331	-0.32	5.63	-3.65	0.04502	.	0.804280	0.11767	N	0.531533	T	0.43787	0.1263	N	0.19112	0.55	0.33771	D	0.623097	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32188	-0.9916	10	0.21014	T	0.42	-4.276	8.9334	0.35684	0.0:0.4987:0.1:0.4014	.	45;45	E5KS55;Q9P2R7	.;SUCB1_HUMAN	I	45	ENSP00000367923:V45I	ENSP00000367923:V45I	V	-	1	0	SUCLA2	47469117	0.458000	0.25760	0.909000	0.35828	0.985000	0.73830	0.050000	0.14120	-0.611000	0.05709	0.591000	0.81541	GTA		0.403	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		
KLF5	688	broad.mit.edu	37	13	73636601	73636601	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:73636601G>A	ENST00000377687.4	+	2	1400	c.864G>A	c.(862-864)atG>atA	p.M288I	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.M197I	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	288					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CATACACAATGCCAAGTCAGT	0.522																																						uc001vje.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(862-864)atG>atA		Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.							115.0	97.0	103.0					13																	73636601		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636601G>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.864G>A	13.37:g.73636601G>A	ENSP00000366915:p.Met288Ile					KLF5_uc001vjd.3_Missense_Mutation_p.M197I	p.M288I	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	1	1188	+		Prostate(6;0.00187)|Breast(118;0.0735)	288					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.864G>A	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548828	0.27652	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.06608	3.45;3.28	5.83	4.96	0.65561	.	0.193377	0.56097	D	0.000027	T	0.05227	0.0139	N	0.15975	0.35	0.44995	D	0.998016	B	0.02656	0.0	B	0.06405	0.002	T	0.40720	-0.9548	10	0.31617	T	0.26	.	16.05	0.80749	0.0:0.0:0.8648:0.1352	.	288	Q13887	KLF5_HUMAN	I	197;288;268	ENSP00000440407:M197I;ENSP00000366915:M288I	ENSP00000366915:M288I	M	+	3	0	KLF5	72534602	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.127000	0.50484	1.394000	0.46624	0.561000	0.74099	ATG		0.522	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1		
FOXG1	2290	broad.mit.edu	37	14	29237185	29237185	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:29237185T>G	ENST00000313071.4	+	1	899	c.700T>G	c.(700-702)Tcc>Gcc	p.S234A	FOXG1_ENST00000382535.3_Missense_Mutation_p.S234A|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	234					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCACAATCTGTCCCTCAACAA	0.587																																						uc001wqe.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(700-702)Tcc>Gcc		Homo sapiens forkhead box G1 (FOXG1), mRNA.							48.0	48.0	48.0					14																	29237185		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237185T>G		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.700T>G	14.37:g.29237185T>G	ENSP00000339004:p.Ser234Ala						p.S234A	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	0	899	+			234					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.700T>G	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860759	0.71834	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.97378	-4.36;-4.36	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.263995	0.33553	U	0.004796	D	0.98642	0.9545	H	0.95043	3.615	0.58432	D	0.999994	D	0.64830	0.994	D	0.91635	0.999	D	0.98816	1.0745	10	0.87932	D	0	.	8.2881	0.31941	0.1771:0.0:0.0:0.8229	.	234	P55316	FOXG1_HUMAN	A	234	ENSP00000371975:S234A;ENSP00000339004:S234A	ENSP00000339004:S234A	S	+	1	0	FOXG1	28306936	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.408000	0.73285	1.446000	0.47643	0.254000	0.18369	TCC		0.587	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
SIPA1L1	26037	broad.mit.edu	37	14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:72176033G>A	ENST00000555818.1	+	15	4271	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R762H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1308	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGGGGACCGCACAGAATCC	0.537																																						uc001xms.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3922-3924)cGc>cAc		Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.							117.0	91.0	100.0					14																	72176033		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72176033G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3923G>A	14.37:g.72176033G>A	ENSP00000450832:p.Arg1308His					SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R762H	p.R1308H	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	14	4284	+			1308			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3923G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431532	0.83776	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.79	4.9	0.64082	.	0.368176	0.32901	N	0.005506	T	0.63331	0.2502	L	0.40543	1.245	0.58432	D	0.999998	D;B;D;D;D	0.89917	0.996;0.001;0.989;0.999;1.0	P;B;P;D;D	0.74674	0.838;0.001;0.648;0.934;0.984	T	0.63395	-0.6647	10	0.44086	T	0.13	-13.6908	14.598	0.68419	0.0695:0.0:0.9305:0.0	.	762;1308;762;1287;1308	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	1287;1308;1287;762	ENSP00000370630:R1287H;ENSP00000450832:R1308H;ENSP00000351352:R1287H;ENSP00000440682:R762H	ENSP00000351352:R1308H	R	+	2	0	SIPA1L1	71245786	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.822000	0.62686	1.453000	0.47775	0.655000	0.94253	CGC		0.537	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
AHNAK2	113146	broad.mit.edu	37	14	105413876	105413876	+	Missense_Mutation	SNP	C	C	T	rs202164616	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:105413876C>T	ENST00000333244.5	-	7	8031	c.7912G>A	c.(7912-7914)Gac>Aac	p.D2638N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2638						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACCCTTGTCGGCCAGGGAC	0.602													.|||	11	0.00219649	0.0083	0.0	5008	,	,		18969	0.0		0.0	False		,,,				2504	0.0					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7912-7914)Gac>Aac		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.		C	ASN/ASP	38,3918		3,32,1943	196.0	215.0	209.0		7912	3.0	0.0	14		209	0,8292		0,0,4146	no	missense	AHNAK2	NM_138420.2	23	3,32,6089	TT,TC,CC		0.0,0.9606,0.3103	probably-damaging	2638/5796	105413876	38,12210	1978	4146	6124	SO:0001583	missense	113146					nucleus		g.chr14:105413876C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7912G>A	14.37:g.105413876C>T	ENSP00000353114:p.Asp2638Asn					AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N	p.D2638N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	8032	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2638					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7912G>A	CCDS45177.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	c	18.32	3.598543	0.66332	0.009606	0.0	ENSG00000185567	ENST00000333244	T	0.01647	4.71	3.03	3.03	0.35002	.	.	.	.	.	T	0.02929	0.0087	M	0.82433	2.59	0.09310	N	1	D	0.56521	0.976	P	0.45998	0.5	T	0.37663	-0.9696	9	0.18276	T	0.48	.	11.2033	0.48754	0.0:1.0:0.0:0.0	.	2638	Q8IVF2	AHNK2_HUMAN	N	2638	ENSP00000353114:D2638N	ENSP00000353114:D2638N	D	-	1	0	AHNAK2	104484921	0.510000	0.26171	0.012000	0.15200	0.088000	0.18126	0.000000	0.12993	1.253000	0.44018	0.306000	0.20318	GAC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
SPG11	80208	broad.mit.edu	37	15	44858195	44858195	+	Nonsense_Mutation	SNP	G	G	A	rs312262785		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr15:44858195G>A	ENST00000261866.7	-	38	6872	c.6856C>T	c.(6856-6858)Cga>Tga	p.R2286*	SPG11_ENST00000535302.2_Nonsense_Mutation_p.R2173*|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2286					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGGGCCTGTCGCACACAGGAG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21127	0.0		0.0	False		,,,				2504	0.001					uc001ztx.3																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6856-6858)Cga>Tga		Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.							46.0	41.0	42.0					15																	44858195		2198	4298	6496	SO:0001587	stop_gained	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858195G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6856C>T	15.37:g.44858195G>A	ENSP00000261866:p.Arg2286*					SPG11_uc010bdw.3_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.2_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.2_Intron	p.R2286*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	37	6887	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2286					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	c.6856C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	47	13.358198	0.99737	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	.	.	.	5.9	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8302	0.78743	0.0:0.0:0.7991:0.2009	.	.	.	.	X	2286;2173	.	ENSP00000261866:R2286X	R	-	1	2	SPG11	42645487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.205000	0.72148	0.774000	0.33427	0.650000	0.86243	CGA		0.532	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
ACSM2A	123876	broad.mit.edu	37	16	20492203	20492203	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:20492203A>T	ENST00000573854.1	+	12	1583	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	ACSM2A_ENST00000396104.2_Missense_Mutation_p.E490V|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E411V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E490V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E490V|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E262V	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	490					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGTGGTTGAGACGGCTGTG	0.562																																						uc010bwe.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1468-1470)gAg>gTg		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.							114.0	102.0	106.0					16																	20492203		2202	4299	6501	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492203A>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1469A>T	16.37:g.20492203A>T	ENSP00000459451:p.Glu490Val					ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.4_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.4_Missense_Mutation_p.E490V|ACSM2A_uc010vay.2_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.4_Missense_Mutation_p.E120V	p.E490V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			12	1708	+			490					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1469A>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744763	0.49151	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	3.26	3.26	0.37387	AMP-dependent synthetase/ligase (1);	0.289161	0.24202	N	0.040602	D	0.84624	0.5513	M	0.93241	3.395	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.83275	0.996;0.968	D	0.87562	0.2472	10	0.87932	D	0	-8.7215	11.6803	0.51453	1.0:0.0:0.0:0.0	.	411;490	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	V	411;490;262;490	ENSP00000392169:E411V;ENSP00000219054:E490V;ENSP00000445082:E262V;ENSP00000379411:E490V	ENSP00000219054:E490V	E	+	2	0	ACSM2A	20399704	1.000000	0.71417	0.076000	0.20297	0.353000	0.29299	7.275000	0.78548	1.277000	0.44412	0.240000	0.17902	GAG		0.562	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
DNAH3	55567	broad.mit.edu	37	16	21128600	21128600	+	Missense_Mutation	SNP	C	C	T	rs181679050	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:21128600C>T	ENST00000261383.3	-	12	1737	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A580T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	580	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTTCTTCTGCGTTAACAGTT	0.358													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20741	0.0		0.0	False		,,,				2504	0.0					uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1738-1740)Gca>Aca		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.		C	THR/ALA	4,4396	8.1+/-20.4	0,4,2196	74.0	69.0	71.0		1738	-10.8	0.0	16		71	0,8598		0,0,4299	yes	missense	DNAH3	NM_017539.1	58	0,4,6495	TT,TC,CC		0.0,0.0909,0.0308	benign	580/4117	21128600	4,12994	2200	4299	6499	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21128600C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1738G>A	16.37:g.21128600C>T	ENSP00000261383:p.Ala580Thr					DNAH3_uc002die.2_Missense_Mutation_p.A520T	p.A580T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	11	1738	-			580			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1738G>A	CCDS10594.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	0.680	-0.798546	0.02841	9.09E-4	0.0	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22134	1.97;2.13	5.39	-10.8	0.00216	.	1.806560	0.03121	N	0.163793	T	0.10809	0.0264	L	0.34521	1.04	0.09310	N	1	B;B	0.15141	0.003;0.012	B;B	0.09377	0.001;0.004	T	0.13255	-1.0516	10	0.14252	T	0.57	.	3.9504	0.09366	0.1118:0.3721:0.2311:0.285	.	580;520	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	T	580;580;520	ENSP00000261383:A580T;ENSP00000394245:A580T	ENSP00000261383:A580T	A	-	1	0	DNAH3	21036101	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.781000	0.01774	-3.555000	0.00142	-0.176000	0.13171	GCA		0.358	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
CHP2	63928	broad.mit.edu	37	16	23768582	23768582	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:23768582C>T	ENST00000300113.2	+	6	898	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	159	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CATCGCTGACCGCACGGTGCA	0.577																																						uc002dmb.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(475-477)Cgc>Tgc		Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.							104.0	90.0	95.0					16																	23768582		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23768582C>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.475C>T	16.37:g.23768582C>T	ENSP00000300113:p.Arg159Cys						p.R159C	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	5	898	+			159			EF-hand 4.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.475C>T	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138256	0.77775	.	.	ENSG00000166869	ENST00000300113	T	0.31769	1.48	5.21	3.23	0.37069	EF-hand-like domain (1);	0.076113	0.52532	D	0.000074	T	0.61375	0.2342	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70163	-0.4947	10	0.87932	D	0	-20.066	12.6342	0.56675	0.3006:0.6994:0.0:0.0	.	159	O43745	CHP2_HUMAN	C	159	ENSP00000300113:R159C	ENSP00000300113:R159C	R	+	1	0	AC130454.2	23676083	0.960000	0.32886	0.987000	0.45799	0.888000	0.51559	0.914000	0.28624	0.874000	0.35823	0.655000	0.94253	CGC		0.577	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097	
SLC38A7	55238	broad.mit.edu	37	16	58709937	58709937	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:58709937C>T	ENST00000570101.1	-	7	1673	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	SLC38A7_ENST00000564010.1_Missense_Mutation_p.V175I|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000219320.4_Missense_Mutation_p.V264I|SLC38A7_ENST00000564100.1_Missense_Mutation_p.V264I			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	264					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTTGAAGACGGGCACACTG	0.572																																						uc002eod.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(790-792)Gtc>Atc		Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.							84.0	55.0	65.0					16																	58709937		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58709937C>T	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.790G>A	16.37:g.58709937C>T	ENSP00000454646:p.Val264Ile					SLC38A7_uc002eoc.1_Missense_Mutation_p.V264I|SLC38A7_uc010vil.1_Missense_Mutation_p.V175I|SLC38A7_uc002eoe.1_Missense_Mutation_p.V264I	p.V264I	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN			7	1183	-			264					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.790G>A	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017813	0.19355	.	.	ENSG00000103042	ENST00000219320	T	0.01335	5.0	5.94	4.94	0.65067	.	0.052317	0.85682	N	0.000000	T	0.01254	0.0041	N	0.17901	0.54	0.80722	D	1	B;B	0.30793	0.287;0.295	B;B	0.25506	0.047;0.061	T	0.68250	-0.5458	9	.	.	.	.	13.0213	0.58789	0.0:0.9166:0.0:0.0834	.	264;264	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	I	264	ENSP00000219320:V264I	.	V	-	1	0	SLC38A7	57267438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.543000	0.53633	1.392000	0.46585	0.561000	0.74099	GTC		0.572	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231	
ATP2A3	489	broad.mit.edu	37	17	3840720	3840720	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:3840720C>T	ENST00000352011.3	-	15	2365	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	ATP2A3_ENST00000309890.7_Missense_Mutation_p.E771K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E771K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E771K|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E771K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E771K			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	771					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGACGACCTCGCCAACATTG	0.602																																					GBM(32;29 774 15719 37967)	uc002fwy.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2311-2313)Gag>Aag		Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.							88.0	61.0	70.0					17																	3840720		2203	4299	6502	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3840720C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2311G>A	17.37:g.3840720C>T	ENSP00000301387:p.Glu771Lys					ATP2A3_uc002fwz.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E771K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E771K	p.E771K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	14	2484	-			771					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.2311G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931035	0.92389	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	4.17	4.17	0.49024	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.993;0.983;0.993;0.993;0.993	D	0.98194	1.0464	10	0.87932	D	0	.	16.7406	0.85458	0.0:1.0:0.0:0.0	.	771;771;771;771;771;771	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	K	771	ENSP00000380236:E771K;ENSP00000301387:E771K;ENSP00000353072:E771K;ENSP00000380234:E771K;ENSP00000312577:E771K;ENSP00000380229:E771K	ENSP00000312577:E771K	E	-	1	0	ATP2A3	3787469	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.651000	0.83577	2.607000	0.88179	0.563000	0.77884	GAG		0.602	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
C17orf59	54785	broad.mit.edu	37	17	8092644	8092645	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:8092644_8092645CC>AA	ENST00000389017.4	-	1	919_920	c.814_815GG>TT	c.(814-816)GGa>TTa	p.G272L	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	272										large_intestine(2)|lung(3)|urinary_tract(1)	6						CACCCGGCCTCCCAGCTCCCGA	0.703																																						uc010vut.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(814-816)gga>TTa		Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.																																				SO:0001583	missense	54785							g.chr17:8092644_8092645CC>AA	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.814_815delinsAA	17.37:g.8092644_8092645delinsAA	ENSP00000373669:p.Gly272Leu						p.G272L	NM_017622	NP_060092	Q96GS4	CQ059_HUMAN			0	920_921	-			272					Q53HS4|Q9NXW8	Missense_Mutation	DNP	ENST00000389017.4	37	c.814_815GG>TT	CCDS11133.2																																																																																				0.703	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622	
TAOK1	57551	broad.mit.edu	37	17	27778581	27778593	+	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	CAGAGCAGGCAGC	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:27778581_27778593delCAGAGCAGGCAGC	ENST00000261716.3	+	2	534_546	c.15_27delCAGAGCAGGCAGC	c.(13-27)aacagagcaggcagcfs	p.NRAGS5fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.NRAGS5fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	5					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATCAACTAACAGAGCAGGCAGCCTGAAGGACC	0.46																																						uc002hdz.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(13-27)aacagagcaggcagcfs		Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27778581_27778593delCAGAGCAGGCAGC	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.15_27delCAGAGCAGGCAGC	17.37:g.27778581_27778593delCAGAGCAGGCAGC	ENSP00000261716:p.Asn5fs					TAOK1_uc010wbe.2_Frame_Shift_Del_p.N5fs	p.N5fs	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		1	209_221	+			5					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Frame_Shift_Del	DEL	ENST00000261716.3	37	c.15_27delCAGAGCAGGCAGC	CCDS32601.1																																																																																				0.460	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791	
LAMA1	284217	broad.mit.edu	37	18	6965403	6965403	+	Missense_Mutation	SNP	C	C	A	rs141811330		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:6965403C>A	ENST00000389658.3	-	50	7172	c.7079G>T	c.(7078-7080)cGt>cTt	p.R2360L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2360	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACTCTGCCACGAAACAGCTC	0.443																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(7078-7080)cGt>cTt		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103.0	98.0	99.0					18																	6965403		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6965403C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7079G>T	18.37:g.6965403C>A	ENSP00000374309:p.Arg2360Leu					LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.R1836L	p.R2360L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			49	7173	-		Colorectal(10;0.172)	2360			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7079G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561659	0.27915	.	.	ENSG00000101680	ENST00000389658	T	0.79653	-1.29	6.17	2.51	0.30379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.467738	0.22779	N	0.055753	T	0.79534	0.4462	M	0.73598	2.24	0.27222	N	0.959629	B	0.26147	0.143	B	0.31946	0.138	T	0.72347	-0.4321	10	0.72032	D	0.01	.	9.3241	0.37982	0.0:0.213:0.0:0.787	.	2360	P25391	LAMA1_HUMAN	L	2360	ENSP00000374309:R2360L	ENSP00000374309:R2360L	R	-	2	0	LAMA1	6955403	0.664000	0.27457	0.009000	0.14445	0.089000	0.18198	1.352000	0.34033	0.194000	0.20326	-0.294000	0.09567	CGT		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
AFG3L2	10939	broad.mit.edu	37	18	12351333	12351333	+	Silent	SNP	C	C	T	rs547346676	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:12351333C>T	ENST00000269143.3	-	11	1629	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	466					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CGAAACGCCCCGGCCTAAGCA	0.463																																						uc002kqz.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1396-1398)ccG>ccA		Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	Adenosine triphosphate(DB00171)						76.0	71.0	73.0					18																	12351333		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12351333C>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1398G>A	18.37:g.12351333C>T							p.P466P	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			10	1592	-			466					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.1398G>A	CCDS11859.1																																																																																				0.463	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796	
TMPRSS9	360200	broad.mit.edu	37	19	2418090	2418090	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:2418090G>A	ENST00000332578.3	+	12	2006	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	669	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACAGACCGCATGATCTGC	0.557																																						uc010xgx.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2005-2007)cGc>cAc		Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.							164.0	151.0	155.0					19																	2418090		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2418090G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2006G>A	19.37:g.2418090G>A	ENSP00000330264:p.Arg669His						p.R669H	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	2006	+			669			Peptidase S1 2.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.2006G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	g	15.04	2.714739	0.48622	.	.	ENSG00000178297	ENST00000332578	T	0.60040	0.22	4.28	3.24	0.37175	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.113396	0.39210	N	0.001423	T	0.63792	0.2541	M	0.67397	2.05	0.34054	D	0.656526	D	0.58268	0.982	P	0.52217	0.693	T	0.76000	-0.3119	10	0.66056	D	0.02	.	11.4747	0.50291	0.0908:0.0:0.9092:0.0	.	669	Q7Z410	TMPS9_HUMAN	H	669	ENSP00000330264:R669H	ENSP00000330264:R669H	R	+	2	0	TMPRSS9	2369090	0.314000	0.24563	0.997000	0.53966	0.180000	0.23129	2.321000	0.43805	0.939000	0.37446	-0.258000	0.10820	CGC		0.557	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	
ZNF358	140467	broad.mit.edu	37	19	7585507	7585507	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:7585507G>A	ENST00000597229.1	+	2	1549	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.R460H	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	460					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						agctctggccgcaaccctgac	0.667																																						uc002mgn.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(1378-1380)cGc>cAc		Homo sapiens zinc finger protein 358 (ZNF358), mRNA.							23.0	24.0	24.0					19																	7585507		2133	4202	6335	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585507G>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1379G>A	19.37:g.7585507G>A	ENSP00000472305:p.Arg460His					ZNF358_uc021unu.1_Missense_Mutation_p.R460H|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	p.R460H	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			1	1549	+			460					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.1379G>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505877	0.12883	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.43688	0.94	3.19	1.05	0.20165	.	.	.	.	.	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22382	-1.0218	9	0.72032	D	0.01	-9.0E-4	3.2817	0.06917	0.1779:0.0:0.3777:0.4443	.	460	Q9NW07	ZN358_HUMAN	H	460	ENSP00000377873:R460H	ENSP00000354703:R460H	R	+	2	0	ZNF358	7491507	0.000000	0.05858	0.103000	0.21229	0.035000	0.12851	0.023000	0.13533	0.242000	0.21303	0.462000	0.41574	CGC		0.667	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1		
ICAM1	3383	broad.mit.edu	37	19	10394191	10394191	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:10394191C>T	ENST00000264832.3	+	3	691	c.366C>T	c.(364-366)ccC>ccT	p.P122P	ICAM1_ENST00000585443.1_3'UTR|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	122					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CACCCCTCCCCTCTTGGCAGC	0.637																																						uc002mnq.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(364-366)ccC>ccT		Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	Natalizumab(DB00108)|Simvastatin(DB00641)						54.0	57.0	56.0					19																	10394191		2203	4299	6502	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394191C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.366C>T	19.37:g.10394191C>T						ICAM1_uc010xle.1_Intron	p.P122P	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	685	+			122					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.366C>T	CCDS12231.1																																																																																				0.637	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		
MAN2B1	4125	broad.mit.edu	37	19	12759205	12759205	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:12759205C>G	ENST00000456935.2	-	21	2488	c.2448G>C	c.(2446-2448)agG>agC	p.R816S	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.A3P|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R815S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	816					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCAGCAGCCTTCGGTGCA	0.652																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2446-2448)agG>agC		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							27.0	22.0	24.0					19																	12759205		2185	4254	6439	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12759205C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2448G>C	19.37:g.12759205C>G	ENSP00000395473:p.Arg816Ser					MAN2B1_uc010dyv.1_Missense_Mutation_p.R815S	p.R816S	NM_000528	NP_000519	O00754	MA2B1_HUMAN			20	2524	-			816					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2448G>C	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111606	0.77210	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.91464	-2.85;-2.85	5.51	0.635	0.17723	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.361676	0.18778	N	0.131417	D	0.94765	0.8310	M	0.90483	3.12	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92960	0.6388	10	0.62326	D	0.03	-36.8015	7.3609	0.26745	0.0:0.4631:0.3783:0.1586	.	815;816	G5E928;O00754	.;MA2B1_HUMAN	S	816;755;815	ENSP00000395473:R816S;ENSP00000221363:R815S	ENSP00000221363:R815S	R	-	3	2	MAN2B1	12620205	0.994000	0.37717	0.091000	0.20842	0.258000	0.26162	0.261000	0.18442	0.659000	0.30945	-0.254000	0.11334	AGG		0.652	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
EMR2	30817	broad.mit.edu	37	19	14865775	14865775	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:14865775G>A	ENST00000315576.3	-	14	2032	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	EMR2_ENST00000595839.1_Silent_p.Y385Y|EMR2_ENST00000346057.1_Silent_p.Y478Y|EMR2_ENST00000353005.1_Silent_p.Y385Y|EMR2_ENST00000601345.1_Silent_p.Y516Y|EMR2_ENST00000594076.1_Silent_p.Y434Y|EMR2_ENST00000353876.1_Silent_p.Y434Y|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000596991.2_Silent_p.Y516Y|EMR2_ENST00000392967.2_Silent_p.Y516Y|EMR2_ENST00000392964.3_Nonsense_Mutation_p.R192*|EMR2_ENST00000594294.1_Silent_p.Y478Y	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	527	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGCACATCGTAGTGGGCCA	0.527																																						uc002mzp.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1579-1581)taC>taT		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.							140.0	107.0	118.0					19																	14865775		2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865775G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1581C>T	19.37:g.14865775G>A						EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	p.Y527Y	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			13	2037	-			527			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.1581C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462531	0.84425	.	.	ENSG00000127507	ENST00000392964	.	.	.	4.05	-5.01	0.02991	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.381	0.21533	0.6157:0.1545:0.2297:0.0	.	.	.	.	X	192	.	ENSP00000376691:R192X	R	-	1	2	EMR2	14726775	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.748000	0.04818	-0.811000	0.04369	0.508000	0.49915	CGA		0.527	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
UBA52	7311	broad.mit.edu	37	19	18684505	18684505	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:18684505C>T	ENST00000442744.2	+	3	195	c.137C>T	c.(136-138)gCc>gTc	p.A46V	CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000596304.1_Missense_Mutation_p.A46V|UBA52_ENST00000430157.2_Missense_Mutation_p.A46V|UBA52_ENST00000599595.1_Missense_Mutation_p.A46V|UBA52_ENST00000596273.1_Missense_Mutation_p.A46V|UBA52_ENST00000595158.1_Missense_Mutation_p.A46V|UBA52_ENST00000599551.1_Missense_Mutation_p.A46V|UBA52_ENST00000597451.1_Missense_Mutation_p.A46V|UBA52_ENST00000598780.1_Missense_Mutation_p.A46V|UBA52_ENST00000595683.1_Missense_Mutation_p.A46V	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	46	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CTGATATTTGCCGGCAAACAG	0.597																																						uc002njr.3																			0				endometrium(1)|large_intestine(2)	3						c.(136-138)gCc>gTc		Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.							62.0	59.0	60.0					19																	18684505		2203	4300	6503	SO:0001583	missense	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18684505C>T		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.137C>T	19.37:g.18684505C>T	ENSP00000388107:p.Ala46Val					UBA52_uc002njs.3_Missense_Mutation_p.A46V|UBA52_uc021uqs.1_5'Flank	p.A46V	NM_001033930	NP_003324	P62987	RL40_HUMAN			2	251	+			46			Ubiquitin-like.		P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	c.137C>T	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236412	0.58886	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.74842	-0.88;-0.88	4.81	4.81	0.61882	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.74546	2.27	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.74719	-0.3570	10	0.72032	D	0.01	-14.696	15.3581	0.74443	0.0:1.0:0.0:0.0	.	46	P62987	RL40_HUMAN	V	46	ENSP00000388107:A46V;ENSP00000396910:A46V	ENSP00000396910:A46V	A	+	2	0	UBA52	18545505	1.000000	0.71417	0.886000	0.34754	0.508000	0.34012	7.663000	0.83820	2.220000	0.72140	0.462000	0.41574	GCC		0.597	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333	
ZNF98	148198	broad.mit.edu	37	19	22575722	22575722	+	Silent	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:22575722T>C	ENST00000357774.5	-	4	436	c.315A>G	c.(313-315)caA>caG	p.Q105Q		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTATCACTTTTTGGAAATAAT	0.299																																						uc002nqt.2																			0		p.F104I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(313-315)caA>caG		Homo sapiens zinc finger protein 98 (ZNF98), mRNA.							44.0	36.0	38.0					19																	22575722		1872	4128	6000	SO:0001819	synonymous_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575722T>C		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.315A>G	19.37:g.22575722T>C							p.Q105Q	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			3	437	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	105						Silent	SNP	ENST00000357774.5	37	c.315A>G	CCDS46031.1																																																																																				0.299	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
GPATCH1	55094	broad.mit.edu	37	19	33585093	33585093	+	Silent	SNP	C	C	T	rs149673951		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:33585093C>T	ENST00000170564.2	+	5	785	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	157	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGTTGGTTTCGAATTGCTAA	0.393																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(469-471)ttC>ttT		Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	109.0	109.0	109.0		471	3.3	1.0	19	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPATCH1	NM_018025.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		157/932	33585093	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33585093C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.471C>T	19.37:g.33585093C>T							p.F157F	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			4	785	+	Esophageal squamous(110;0.137)		157			G-patch.		Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.471C>T	CCDS12428.1																																																																																				0.393	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
NPHS1	4868	broad.mit.edu	37	19	36336653	36336653	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:36336653G>A	ENST00000378910.5	-	13	1674	c.1675C>T	c.(1675-1677)Ccg>Tcg	p.P559S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P559S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	559	Ig-like C2-type 6.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGTCTCCCGGGCGCAGTGCG	0.622																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1675-1677)Ccg>Tcg		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							56.0	52.0	54.0					19																	36336653		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36336653G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1675C>T	19.37:g.36336653G>A	ENSP00000368190:p.Pro559Ser						p.P559S	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1831	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		559			Ig-like C2-type 6.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1675C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006238	0.74932	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.85773	-2.03;-2.03	5.14	4.1	0.47936	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117593	0.56097	D	0.000030	D	0.84651	0.5519	L	0.46157	1.445	0.27877	N	0.939832	P	0.47545	0.897	P	0.51615	0.675	T	0.77159	-0.2690	10	0.30078	T	0.28	-12.4239	11.8479	0.52395	0.0865:0.0:0.9135:0.0	.	559	O60500	NPHN_HUMAN	S	559	ENSP00000368190:P559S;ENSP00000343634:P559S	ENSP00000343634:P559S	P	-	1	0	NPHS1	41028493	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	4.322000	0.59215	1.313000	0.45069	0.561000	0.74099	CCG		0.622	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
PLEKHG2	64857	broad.mit.edu	37	19	39913516	39913516	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:39913516G>A	ENST00000409794.3	+	18	2672	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.G579R|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G549R|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	608					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATGAACGGGGGCCTTCCCC	0.587																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1822-1824)Ggg>Agg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							58.0	55.0	56.0					19																	39913516		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913516G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1822G>A	19.37:g.39913516G>A	ENSP00000386733:p.Gly608Arg					PLEKHG2_uc010xuy.2_Missense_Mutation_p.G549R|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G386R	p.G608R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	2147	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		608					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1822G>A	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678096	0.29783	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.68331	-0.19;-0.18;-0.32	5.26	4.22	0.49857	.	0.807151	0.10456	N	0.672516	T	0.53546	0.1803	N	0.24115	0.695	0.58432	D	0.999999	P;P;P	0.44429	0.835;0.745;0.718	B;B;B	0.40066	0.318;0.169;0.235	T	0.42137	-0.9469	10	0.37606	T	0.19	.	11.2812	0.49195	0.0:0.0:0.8175:0.1825	.	579;608;549	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	R	608;579;549	ENSP00000386733:G608R;ENSP00000392906:G579R;ENSP00000408857:G549R	ENSP00000386733:G608R	G	+	1	0	PLEKHG2	44605356	0.649000	0.27322	0.041000	0.18516	0.269000	0.26545	2.208000	0.42797	1.188000	0.43014	0.467000	0.42956	GGG		0.587	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
C5AR1	728	broad.mit.edu	37	19	47823297	47823297	+	Missense_Mutation	SNP	C	C	T	rs201037165		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:47823297C>T	ENST00000355085.3	+	2	285	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	88					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCTGCCTGGCGCTGCCCATC	0.602																																						uc002pgj.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(262-264)gCg>gTg		Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	120.0	100.0	107.0		263	3.4	1.0	19		107	0,8600		0,0,4300	no	missense	C5AR1	NM_001736.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	88/351	47823297	1,13005	2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823297C>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.263C>T	19.37:g.47823297C>T	ENSP00000347197:p.Ala88Val						p.A88V	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	1	312	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	88						Missense_Mutation	SNP	ENST00000355085.3	37	c.263C>T	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203049	0.58234	2.27E-4	0.0	ENSG00000197405	ENST00000355085	T	0.70986	-0.53	4.67	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.229862	0.37219	U	0.002199	T	0.61652	0.2364	L	0.37800	1.135	0.29954	N	0.819957	P	0.47191	0.891	P	0.44921	0.464	T	0.59958	-0.7356	10	0.24483	T	0.36	.	12.611	0.56549	0.0:0.8984:0.0:0.1016	.	88	P21730	C5AR_HUMAN	V	88	ENSP00000347197:A88V	ENSP00000347197:A88V	A	+	2	0	C5AR1	52515137	0.000000	0.05858	0.965000	0.40720	0.855000	0.48748	0.084000	0.14891	2.128000	0.65567	0.478000	0.44815	GCG		0.602	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736	
SHANK1	50944	broad.mit.edu	37	19	51205832	51205832	+	Missense_Mutation	SNP	G	G	A	rs148526987		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51205832G>A	ENST00000293441.1	-	11	1657	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	SHANK1_ENST00000391814.1_Missense_Mutation_p.R547W|SHANK1_ENST00000359082.3_Missense_Mutation_p.R547W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	547					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTTCCTCCGCCTCCCGCGG	0.711																																						uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1639-1641)Cgg>Tgg		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.		G	TRP/ARG	0,4406		0,0,2203	31.0	25.0	27.0		1639	4.1	0.9	19	dbSNP_134	27	2,8598	2.2+/-6.3	0,2,4298	no	missense	SHANK1	NM_016148.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	547/2162	51205832	2,13004	2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205832G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1639C>T	19.37:g.51205832G>A	ENSP00000293441:p.Arg547Trp						p.R547W	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1658	-		all_neural(266;0.057)	547					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1639C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	15.39	2.820434	0.50633	0.0	2.33E-4	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.14266	2.52;2.52;2.52	4.08	4.08	0.47627	Src homology-3 domain (1);	0.227351	0.25958	U	0.027207	T	0.17280	0.0415	L	0.39898	1.24	0.32043	N	0.598036	D	0.71674	0.998	P	0.51055	0.657	T	0.06499	-1.0823	10	0.87932	D	0	-14.2927	9.953	0.41649	0.0:0.0:0.7968:0.2032	.	547	Q9Y566	SHAN1_HUMAN	W	547	ENSP00000293441:R547W;ENSP00000351984:R547W;ENSP00000375690:R547W	ENSP00000293441:R547W	R	-	1	2	SHANK1	55897644	0.039000	0.19947	0.858000	0.33744	0.865000	0.49528	1.760000	0.38430	2.217000	0.71921	0.455000	0.32223	CGG		0.711	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
CD33	945	broad.mit.edu	37	19	51729289	51729289	+	Missense_Mutation	SNP	G	G	A	rs150408980	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51729289G>A	ENST00000262262.4	+	3	670	c.649G>A	c.(649-651)Gct>Act	p.A217T	CD33_ENST00000391796.3_Missense_Mutation_p.A217T|CD33_ENST00000436584.2_Missense_Mutation_p.A90T|CD33_ENST00000421133.2_Missense_Mutation_p.A90T	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	217	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTGAAGTTCGCTGGAGCTGG	0.622													N|||	3	0.000599042	0.0015	0.0	5008	,	,		17839	0.0		0.0	False		,,,				2504	0.001					uc002pwa.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(649-651)Gct>Act		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)	G	THR/ALA,THR/ALA,THR/ALA	3,4403		0,3,2200	48.0	45.0	46.0		268,649,649	0.8	0.0	19	dbSNP_134	46	0,8600		0,0,4300	no	missense,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	58,58,58	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign	90/238,217/311,217/365	51729289	3,13003	2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51729289G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.649G>A	19.37:g.51729289G>A	ENSP00000262262:p.Ala217Thr					CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_Non-coding_Transcript	p.A217T	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	689	+		all_neural(266;0.0199)	217			Ig-like C2-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.649G>A	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.523923	0.27299	6.81E-4	0.0	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.03386	3.95;3.95;3.95;3.95	3.0	0.77	0.18497	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245559	0.21111	U	0.079994	T	0.02230	0.0069	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.001;0.007;0.02	B;B;B	0.19666	0.002;0.004;0.026	T	0.42275	-0.9461	10	0.87932	D	0	.	4.1641	0.10298	0.0:0.6118:0.2446:0.1436	.	90;217;217	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	T	90;217;90;217	ENSP00000403331:A90T;ENSP00000262262:A217T;ENSP00000410126:A90T;ENSP00000375673:A217T	ENSP00000262262:A217T	A	+	1	0	CD33	56421101	0.011000	0.17503	0.001000	0.08648	0.002000	0.02628	0.645000	0.24782	0.136000	0.18733	-0.375000	0.07067	GCT		0.622	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	
PEG3	5178	broad.mit.edu	37	19	57326473	57326473	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57326473C>T	ENST00000326441.9	-	10	3700	c.3337G>A	c.(3337-3339)Ggc>Agc	p.G1113S	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G987S|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G989S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1113S|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1113					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGCCCAGGCCACAGTCCTCA	0.488																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3337-3339)Ggc>Agc		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							124.0	117.0	120.0					19																	57326473		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326473C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3337G>A	19.37:g.57326473C>T	ENSP00000326581:p.Gly1113Ser					PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S	p.G1113S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	3688	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1113					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3337G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024419	0.93518	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.58358	0.34;0.34	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000111	T	0.74512	0.3726	M	0.85462	2.755	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80770	-0.1234	9	0.66056	D	0.02	-48.4985	15.1385	0.72590	0.0:1.0:0.0:0.0	.	989;1113;1048	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1113	ENSP00000326581:G1113S;ENSP00000403051:G1113S	ENSP00000326581:G1113S	G	-	1	0	ZIM2	62018285	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.527000	0.53517	2.702000	0.92279	0.655000	0.94253	GGC		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
ZNF543	125919	broad.mit.edu	37	19	57839653	57839653	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57839653C>T	ENST00000321545.4	+	4	1168	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACGGCACCAGCGGATTCACAG	0.527																																						uc002qoi.2																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(823-825)Cgg>Tgg		Homo sapiens zinc finger protein 543 (ZNF543), mRNA.							57.0	57.0	57.0					19																	57839653		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839653C>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.823C>T	19.37:g.57839653C>T	ENSP00000322545:p.Arg275Trp						p.R275W	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1180	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	275					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.823C>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016422	0.54468	.	.	ENSG00000178229	ENST00000321545	T	0.25579	1.79	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55449	0.1921	M	0.91459	3.21	0.24854	N	0.992384	D	0.89917	1.0	D	0.97110	1.0	T	0.41197	-0.9522	9	0.87932	D	0	.	8.8335	0.35098	0.2244:0.7755:0.0:0.0	.	275	Q08ER8	ZN543_HUMAN	W	275	ENSP00000322545:R275W	ENSP00000322545:R275W	R	+	1	2	ZNF543	62531465	0.000000	0.05858	0.997000	0.53966	0.934000	0.57294	-0.845000	0.04340	1.700000	0.51204	0.491000	0.48974	CGG		0.527	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
USP39	10713	broad.mit.edu	37	2	85863233	85863233	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:85863233G>A	ENST00000323701.6	+	7	1017	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	USP39_ENST00000409766.3_Missense_Mutation_p.G336D|USP39_ENST00000450066.2_Missense_Mutation_p.G233D|USP39_ENST00000409470.1_Missense_Mutation_p.G336D|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Missense_Mutation_p.G336D	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	336	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCTCTGGGGGGCACAAAGAAG	0.423																																						uc002sqe.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1006-1008)gGc>gAc		Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.							127.0	134.0	132.0					2																	85863233		2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863233G>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1007G>A	2.37:g.85863233G>A	ENSP00000312981:p.Gly336Asp					USP39_uc002sqb.3_Missense_Mutation_p.G67D|USP39_uc010ysu.2_Missense_Mutation_p.G258D|USP39_uc010ysv.2_Missense_Mutation_p.G233D|USP39_uc010fgn.1_Missense_Mutation_p.G336D|USP39_uc002sqg.3_Missense_Mutation_p.G336D|USP39_uc010fgo.3_Missense_Mutation_p.G336D	p.G336D	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN			6	1043	+			336					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.1007G>A	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540730	0.85917	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.83	4.95	0.65309	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.85542	2.76	0.80722	D	1	P;D;D;D;D;P	0.89917	0.85;1.0;1.0;1.0;1.0;0.726	P;D;D;D;D;P	0.85130	0.733;0.992;0.992;0.997;0.997;0.665	T	0.64437	-0.6408	10	0.59425	D	0.04	-5.5828	12.5856	0.56416	0.0805:0.0:0.9195:0.0	.	233;258;336;336;336;336	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	D	233;336;336;336;336;336	ENSP00000396133:G233D;ENSP00000386572:G336D;ENSP00000386864:G336D;ENSP00000312981:G336D;ENSP00000386803:G336D	ENSP00000312981:G336D	G	+	2	0	USP39	85716744	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.062000	0.93920	1.464000	0.47987	0.555000	0.69702	GGC		0.423	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590	
IGKV2-19	28925	broad.mit.edu	37	2	89434503	89434503	+	IGR	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:89434503G>A								IGKV1-17 (17168 upstream) : IGKV3-20 (7553 downstream)																							AAACCCCAACGTCCTCAGCCT	0.507																																						uc021vkt.1																			0											c.e44-1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	28925							g.chr2:89434503G>A																													2.37:g.89434503G>A						abParts_uc021vku.1_Intron								44		-									Splice_Site	SNP		37	c.4522_splice																																																																																				0	0.507								
TTN	7273	broad.mit.edu	37	2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:179631234G>A	ENST00000591111.1	-	41	9801	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R3147*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R3147*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R3193*|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R3193*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R3193*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R3147*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13523					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R3147*(6)|p.R3193*(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTGTGTCGTTCTTGAACT	0.423																																						uc021vsy.1																			11	Substitution - Nonsense(11)	p.R3147*(6)|p.R3193*(5)|p.P3192L(1)	kidney(6)|large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9577-9579)Cga>Tga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							158.0	144.0	149.0					2																	179631234		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631234G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9577C>T	2.37:g.179631234G>A	ENSP00000465570:p.Arg3193*					TTN_uc021vsz.1_Nonsense_Mutation_p.R3147*|TTN_uc021vta.1_Nonsense_Mutation_p.R3147*|TTN_uc021vtb.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193*	p.R3193*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		40	9802	-			3193					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.9577C>T		.	.	.	.	.	.	.	.	.	.	G	50	17.231516	0.99882	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.7	0.593	0.17478	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6254	0.91336	0.0:0.0:0.226:0.774	.	.	.	.	X	3193;3147;3147;3147;3147;3193	.	ENSP00000340554:R3147X	R	-	1	2	TTN	179339479	0.965000	0.33210	0.977000	0.42913	0.514000	0.34195	0.588000	0.23924	-0.172000	0.10779	-2.591000	0.00164	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
RSPO4	343637	broad.mit.edu	37	20	948682	948682	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:948682C>T	ENST00000217260.4	-	2	275	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RSPO4_ENST00000400634.2_Missense_Mutation_p.R60Q	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	60					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GATGCCTTCCCGGCGGATGAA	0.622																																						uc002wej.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(178-180)cGg>cAg		Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.							62.0	65.0	64.0					20																	948682		1998	4169	6167	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:948682C>T	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.179G>A	20.37:g.948682C>T	ENSP00000217260:p.Arg60Gln					RSPO4_uc002wek.3_Missense_Mutation_p.R60Q	p.R60Q	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN			1	279	-			60					A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.179G>A	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773519	0.90108	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	D;D	0.83335	-1.71;-1.71	5.14	5.14	0.70334	Growth factor, receptor (1);	0.000000	0.52532	D	0.000078	D	0.90841	0.7123	M	0.76170	2.325	0.44745	D	0.99774	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91956	0.5575	10	0.87932	D	0	-0.5065	17.1768	0.86844	0.0:1.0:0.0:0.0	.	60;60	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	Q	60	ENSP00000217260:R60Q;ENSP00000383475:R60Q	ENSP00000217260:R60Q	R	-	2	0	RSPO4	896682	1.000000	0.71417	0.965000	0.40720	0.558000	0.35554	7.232000	0.78116	2.385000	0.81259	0.563000	0.77884	CGG		0.622	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816	
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5283318C>T	ENST00000217270.3	-	2	522	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	PROKR2_ENST00000546004.1_Missense_Mutation_p.A175T	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A175S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493										HNSCC(71;0.22)																												uc010zqw.2																			2	Substitution - Missense(2)	p.A175S(4)|p.I174N(1)|p.I174I(1)	lung(2)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(523-525)Gcc>Acc		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.							137.0	143.0	141.0					20																	5283318		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283318C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.523G>A	20.37:g.5283318C>T	ENSP00000217270:p.Ala175Thr	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.A175T|PROKR2_uc010zqy.2_Missense_Mutation_p.A175T	p.A175T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	531	-			175					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.523G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695216	0.30052	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.39997	1.05;1.05	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.156254	0.56097	D	0.000022	T	0.28267	0.0698	N	0.12471	0.22	0.09310	N	0.999999	B	0.11235	0.004	B	0.11329	0.006	T	0.15206	-1.0445	10	0.37606	T	0.19	.	16.2472	0.82450	0.0:1.0:0.0:0.0	.	175	Q8NFJ6	PKR2_HUMAN	T	175	ENSP00000440790:A175T;ENSP00000217270:A175T	ENSP00000217270:A175T	A	-	1	0	PROKR2	5231318	0.012000	0.17670	0.976000	0.42696	0.746000	0.42486	1.311000	0.33562	2.442000	0.82660	0.655000	0.94253	GCC		0.493	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
PROKR2	128674	broad.mit.edu	37	20	5294853	5294853	+	Missense_Mutation	SNP	C	C	T	rs146963803		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5294853C>T	ENST00000217270.3	-	1	162	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	PROKR2_ENST00000546004.1_Missense_Mutation_p.V55I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	55					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATGCCAATGACGATCTTGGCT	0.517										HNSCC(71;0.22)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		24125	0.0		0.0	False		,,,				2504	0.0					uc010zqw.2																			0		p.I54I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(163-165)Gtc>Atc		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.		C	ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	159.0	131.0	141.0		163	3.7	0.7	20	dbSNP_134	141	0,8600		0,0,4300	yes	missense	PROKR2	NM_144773.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	55/385	5294853	2,13004	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294853C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.163G>A	20.37:g.5294853C>T	ENSP00000217270:p.Val55Ile	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.V55I|PROKR2_uc010zqy.2_Missense_Mutation_p.V55I|AX746654_uc002wly.1_5'Flank	p.V55I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			0	171	-			55					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.163G>A	CCDS13089.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.173	0.400054	0.11696	4.54E-4	0.0	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.36878	1.23;1.23	4.6	3.65	0.41850	.	0.062472	0.64402	D	0.000006	T	0.34221	0.0890	M	0.74881	2.28	0.48236	D	0.999618	B	0.18968	0.032	B	0.14578	0.011	T	0.14839	-1.0458	10	0.09590	T	0.72	.	11.131	0.48347	0.0:0.9071:0.0:0.0929	.	55	Q8NFJ6	PKR2_HUMAN	I	55	ENSP00000440790:V55I;ENSP00000217270:V55I	ENSP00000217270:V55I	V	-	1	0	PROKR2	5242853	0.486000	0.25980	0.706000	0.30403	0.413000	0.31143	1.160000	0.31761	1.051000	0.40369	0.655000	0.94253	GTC		0.517	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
PCSK2	5126	broad.mit.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000536609.1_Silent_p.D309D|PCSK2_ENST00000377899.1_Silent_p.D325D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCTGTACGACGAGAGCTGCT	0.597																																						uc002wpm.3																			1	Substitution - coding silent(1)	p.D344D(2)|p.Y343Y(1)	kidney(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1030-1032)gaC>gaT		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						144.0	108.0	120.0					20																	17434533		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434533C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1032C>T	20.37:g.17434533C>T						PCSK2_uc002wpl.3_Silent_p.D325D|PCSK2_uc010zrm.2_Silent_p.D309D	p.D344D	NM_002594	NP_001188457	P16519	NEC2_HUMAN			8	1386	+			344			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1032C>T	CCDS13125.1																																																																																				0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
TPTE	7179	broad.mit.edu	37	21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	rs113140892	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:10951332C>T	ENST00000361285.4	-	10	709	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000298232.7_Missense_Mutation_p.R109H	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338																																						uc002yip.1																			1	Substitution - Missense(1)	p.R126Q(1)|p.R126*(1)|p.R109H(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(379-381)cGt>cAt		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99.0	107.0	104.0		326,266,380	0.9	0.0	21	dbSNP_132	104	1,8593		0,1,4296	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	109/534,89/514,127/552	10951332	1,12999	2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951332C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.380G>A	21.37:g.10951332C>T	ENSP00000355208:p.Arg127His					TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109H|TPTE_uc002yir.1_Missense_Mutation_p.R89H|TPTE_uc010gkv.1_5'UTR	p.R127H	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	748	-			127					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.380G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.751	1.167533	0.21621	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97430	-4.38;-4.38;-4.38	1.8	0.877	0.19145	.	0.456228	0.21930	U	0.067036	D	0.92140	0.7508	L	0.49126	1.545	0.09310	N	1	P;P;P	0.39759	0.687;0.687;0.56	B;B;B	0.30716	0.119;0.119;0.056	D	0.86249	0.1648	10	0.52906	T	0.07	-1.829	4.1712	0.10331	0.0:0.7811:0.0:0.2189	.	89;109;127	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	109;127;89;109	ENSP00000298232:R109H;ENSP00000355208:R127H;ENSP00000344441:R89H	ENSP00000298232:R109H	R	-	2	0	TPTE	9973203	0.000000	0.05858	0.031000	0.17742	0.132000	0.20833	-0.561000	0.05957	0.313000	0.23062	0.194000	0.17425	CGT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
ITGB2	3689	broad.mit.edu	37	21	46320316	46320316	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:46320316G>A	ENST00000397850.2	-	8	1268	c.816C>T	c.(814-816)gaC>gaT	p.D272D	ITGB2_ENST00000397854.3_Silent_p.D215D|ITGB2_ENST00000397857.1_Silent_p.D272D|ITGB2_ENST00000355153.4_Silent_p.D272D|ITGB2_ENST00000302347.5_Silent_p.D272D|ITGB2_ENST00000397852.1_Silent_p.D272D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	272	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCTTCCCGTCGCCCGCGA	0.632																																						uc002zgd.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(814-816)gaC>gaT		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						101.0	86.0	91.0					21																	46320316		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320316G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.816C>T	21.37:g.46320316G>A						ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D	p.D272D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	860	-			272			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.816C>T	CCDS13716.1																																																																																				0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22842526C>T	ENST00000406426.1	-	4	1940	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E400K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433																																						uc002zwc.1																			0		p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1198-1200)Gaa>Aaa		Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.							117.0	111.0	113.0					22																	22842526		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842526C>T	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1198G>A	22.37:g.22842526C>T	ENSP00000385998:p.Glu400Lys					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	1974	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	400						Missense_Mutation	SNP	ENST00000406426.1	37	c.1198G>A	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382835	0.82792	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.34859	1.34;1.34	4.85	3.84	0.44239	.	.	.	.	.	T	0.52025	0.1709	M	0.71920	2.185	0.47476	D	0.999439	D	0.64830	0.994	P	0.59643	0.861	T	0.55347	-0.8155	9	0.56958	D	0.05	-14.3647	11.0776	0.48040	0.0:0.9097:0.0:0.0903	.	400	Q86YH2	Z280B_HUMAN	K	400	ENSP00000385998:E400K;ENSP00000353586:E400K	ENSP00000353586:E400K	E	-	1	0	ZNF280B	21172526	1.000000	0.71417	0.907000	0.35723	0.861000	0.49209	6.799000	0.75160	1.417000	0.47077	0.655000	0.94253	GAA		0.433	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764	
ZNF280A	129025	broad.mit.edu	37	22	22868784	22868784	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22868784C>T	ENST00000302097.3	-	2	1423	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E391K(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.453																																						uc002zwe.3																			1	Substitution - Missense(1)	p.E391K(2)	endometrium(1)	endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1171-1173)Gaa>Aaa		Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.							114.0	94.0	101.0					22																	22868784		2203	4297	6500	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868784C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1171G>A	22.37:g.22868784C>T	ENSP00000302855:p.Glu391Lys					abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E391K	p.E391K	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	1424	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	391						Missense_Mutation	SNP	ENST00000302097.3	37	c.1171G>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113354	0.77210	.	.	ENSG00000169548	ENST00000302097	T	0.34859	1.34	3.9	0.441	0.16577	.	.	.	.	.	T	0.50154	0.1599	M	0.92317	3.295	0.33224	D	0.555079	D	0.60160	0.987	P	0.50136	0.632	T	0.61192	-0.7112	9	0.62326	D	0.03	-5.291	4.5073	0.11894	0.2116:0.5871:0.0:0.2013	.	391	P59817	Z280A_HUMAN	K	391	ENSP00000302855:E391K	ENSP00000302855:E391K	E	-	1	0	ZNF280A	21198784	0.994000	0.37717	0.256000	0.24389	0.895000	0.52256	3.146000	0.50631	0.150000	0.19136	0.655000	0.94253	GAA		0.453	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740	
AP1B1	162	broad.mit.edu	37	22	29754763	29754763	+	Missense_Mutation	SNP	C	C	A	rs540408269		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:29754763C>A	ENST00000405198.1	-	4	508	c.477G>T	c.(475-477)caG>caT	p.Q159H	AP1B1_ENST00000402502.1_Missense_Mutation_p.Q159H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Q159H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Q159H|AP1B1_ENST00000357586.2_Missense_Mutation_p.Q159H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Q159H|AP1B1_ENST00000317368.7_Missense_Mutation_p.Q159H			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	159					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCAGGAAGCCCTGGTCCTCCA	0.597																																						uc003afj.3																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(475-477)caG>caT		Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.							145.0	114.0	125.0					22																	29754763		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29754763C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.477G>T	22.37:g.29754763C>A	ENSP00000384194:p.Gln159His					AP1B1_uc003afl.3_Missense_Mutation_p.Q159H|AP1B1_uc003afi.3_Missense_Mutation_p.Q159H	p.Q159H	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			4	664	-			159					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.477G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930236	0.52866	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.62	2.38	0.29361	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	L	0.52126	1.63	0.80722	D	1	B;B;D;D	0.76494	0.014;0.014;0.999;0.975	B;B;P;P	0.60789	0.008;0.006;0.879;0.625	T	0.04900	-1.0919	10	0.35671	T	0.21	-20.4123	11.2006	0.48739	0.0:0.8067:0.0:0.1933	.	159;159;159;159	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	H	159	ENSP00000350199:Q159H;ENSP00000348297:Q159H;ENSP00000400065:Q159H;ENSP00000384194:Q159H;ENSP00000319361:Q159H;ENSP00000386071:Q159H;ENSP00000387612:Q159H;ENSP00000400022:Q159H	ENSP00000319361:Q159H	Q	-	3	2	AP1B1	28084763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.536000	0.45693	0.744000	0.32741	0.563000	0.77884	CAG		0.597	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127	
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					uc003bci.3																			0				endometrium(1)	1						c.(94-96)Tcg>Gcg		Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.																																						1564							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A	p.S32A							2	475	-									Missense_Mutation	SNP	ENST00000428786.1	37	c.94T>G		30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1		
CPT1B	1375	broad.mit.edu	37	22	51008725	51008725	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:51008725G>A	ENST00000360719.2	-	17	2276	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	CPT1B_ENST00000434492.2_Silent_p.G508G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Silent_p.G632G|CPT1B_ENST00000457250.1_Silent_p.G679G|CPT1B_ENST00000405237.3_Silent_p.G713G|CPT1B_ENST00000312108.7_Silent_p.G713G|CPT1B_ENST00000395650.2_Silent_p.G713G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	713					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G713G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CACTCACAGGGCCAAAGCCAC	0.652																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmm.3																			1	Substitution - coding silent(1)	p.G713G(2)|p.G713S(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2137-2139)ggC>ggT		Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							75.0	74.0	74.0					22																	51008725		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51008725G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2139C>T	22.37:g.51008725G>A						CPT1B_uc003bmk.4_Silent_p.G713G|CPT1B_uc003bml.3_Silent_p.G713G|CPT1B_uc003bmo.3_Silent_p.G713G|CPT1B_uc011asa.2_Silent_p.G679G|CPT1B_uc003bmn.3_Silent_p.G713G|CPT1B_uc011asb.2_Silent_p.G632G|CPT1B_uc003bmp.3_Silent_p.G508G|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank	p.G713G	NM_004377	NP_689452	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	16	2238	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	713					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.2139C>T	CCDS14098.1																																																																																				0.652	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
MKRN2	23609	broad.mit.edu	37	3	12616291	12616291	+	Splice_Site	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:12616291A>G	ENST00000170447.7	+	5	780	c.643A>G	c.(643-645)Atc>Gtc	p.I215V	MKRN2_ENST00000411987.1_Splice_Site_p.I172V|MKRN2_ENST00000448482.1_Splice_Site_p.I213V	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	215	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGTGCTTCAGATCTGCATGTT	0.542																																						uc003bxd.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						c.e5-1		Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.							128.0	110.0	116.0					3																	12616291		2203	4300	6503	SO:0001630	splice_region_variant	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12616291A>G		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.643-1A>G	3.37:g.12616291A>G						MKRN2_uc011aus.2_Splice_Site_p.I172_splice	p.I215_splice	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN			5	699	+			215			Makorin-type Cys-His.		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.643_splice	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	A	0.858	-0.736319	0.03111	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.21543	2.81;2.0;2.0	4.95	-1.89	0.07689	.	0.699661	0.15299	N	0.269712	T	0.03739	0.0106	N	0.00707	-1.245	0.29721	N	0.838665	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36720	-0.9736	9	.	.	.	.	1.5085	0.02491	0.4414:0.2364:0.2074:0.1148	.	172;213;215	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	V	215;172;213	ENSP00000170447:I215V;ENSP00000396340:I172V;ENSP00000397983:I213V	.	I	+	1	0	MKRN2	12591291	0.996000	0.38824	0.982000	0.44146	0.630000	0.37929	0.673000	0.25203	-0.090000	0.12462	0.460000	0.39030	ATC		0.542	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160	Missense_Mutation
MST1R	4486	broad.mit.edu	37	3	49940348	49940348	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:49940348A>T	ENST00000296474.3	-	1	722	c.695T>A	c.(694-696)tTt>tAt	p.F232Y	MST1R_ENST00000344206.4_Missense_Mutation_p.F232Y|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	232	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAACGCCACAAAGCCCGGTGC	0.577																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(694-696)tTt>tAt		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							44.0	43.0	43.0					3																	49940348		2203	4299	6502	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940348A>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.695T>A	3.37:g.49940348A>T	ENSP00000296474:p.Phe232Tyr					MST1R_uc011bdc.2_Missense_Mutation_p.F232Y|MST1R_uc011bdd.2_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.2_Missense_Mutation_p.F232Y	p.F232Y	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	0	959	-			232			Sema.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.695T>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443817	0.63067	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10668	2.85;2.85	4.92	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.161324	0.56097	D	0.000036	T	0.22704	0.0548	M	0.69823	2.125	0.35363	D	0.788359	D;D;D;D;D	0.76494	0.997;0.996;0.997;0.997;0.999	D;P;D;D;D	0.69307	0.931;0.889;0.931;0.931;0.963	T	0.23583	-1.0184	10	0.02654	T	1	-12.8511	10.6667	0.45734	0.9223:0.0:0.0777:0.0	.	232;232;232;232;232	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	Y	232	ENSP00000296474:F232Y;ENSP00000341325:F232Y	ENSP00000296474:F232Y	F	-	2	0	MST1R	49915352	0.958000	0.32768	0.027000	0.17364	0.069000	0.16628	3.424000	0.52764	1.839000	0.53478	0.459000	0.35465	TTT		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
CACNA1D	776	broad.mit.edu	37	3	53837549	53837549	+	Nonsense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:53837549T>G	ENST00000350061.5	+	44	6046	c.5535T>G	c.(5533-5535)taT>taG	p.Y1845*	CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.Y224*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Y1821*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.Y1865*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1845					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCAGGAGTATTTCAGTAGTG	0.597																																						uc003dgv.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5533-5535)taT>taG		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	Verapamil(DB00661)						142.0	146.0	145.0					3																	53837549		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53837549T>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5535T>G	3.37:g.53837549T>G	ENSP00000288133:p.Tyr1845*					CACNA1D_uc003dgu.4_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.2_Non-coding_Transcript	p.Y1845*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	43	5698	+			1845					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.5535T>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	45	11.630661	0.99584	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.56	0.546	0.17196	.	0.751784	0.11635	N	0.544426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5177	0.27610	0.0:0.2703:0.0:0.7297	.	.	.	.	X	1845;1865;1821;1538;224	.	ENSP00000288139:Y1865X	Y	+	3	2	CACNA1D	53812589	1.000000	0.71417	0.997000	0.53966	0.706000	0.40770	0.548000	0.23314	-0.072000	0.12864	0.454000	0.30748	TAT		0.597	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
ACAD11	84129	broad.mit.edu	37	3	132360955	132360955	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:132360955G>C	ENST00000264990.6	-	4	1369	c.398C>G	c.(397-399)aCa>aGa	p.T133R	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.T133R|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.T133R	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	133					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCCAGGAATTGTTAAATCACG	0.378																																						uc003eov.4																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(397-399)aCa>aGa		Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.							112.0	104.0	107.0					3																	132360955		2203	4300	6503	SO:0001583	missense	84129				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132360955G>C	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.398C>G	3.37:g.132360955G>C	ENSP00000264990:p.Thr133Arg						p.T133R	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN			3	778	-			0					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.398C>G	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	7.384	0.629467	0.14257	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.96427	-3.96;-4.01;1.97	5.49	5.49	0.81192	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	D	0.91637	0.7357	N	0.05383	-0.06	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.15870	0.014;0.006	D	0.86301	0.1680	9	0.46703	T	0.11	.	19.7268	0.96166	0.0:0.0:1.0:0.0	.	133;133	D6RDI8;Q709F0	.;ACD11_HUMAN	R	133	ENSP00000347636:T133R;ENSP00000264990:T133R;ENSP00000420907:T133R	ENSP00000264990:T133R	T	-	2	0	ACAD11	133843645	0.980000	0.34600	0.027000	0.17364	0.073000	0.16967	5.000000	0.63940	2.727000	0.93392	0.563000	0.77884	ACA		0.378	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
RNF168	165918	broad.mit.edu	37	3	196229875	196229876	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:196229875_196229876delCG	ENST00000318037.3	-	1	763_764	c.169_170delCG	c.(169-171)cggfs	p.R57fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	57					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CGACGATACCCGGCGGCGACAG	0.545																																						uc003fwq.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(169-171)cggfs		Homo sapiens ring finger protein 168 (RNF168), mRNA.																																				SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196229875_196229876delCG	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.169_170delCG	3.37:g.196229875_196229876delCG	ENSP00000320898:p.Arg57fs					RNF168_uc010iah.3_5'UTR	p.R57fs	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	0	764_765	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		57					Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.169_170delCG	CCDS3317.1																																																																																				0.545	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
ABCG2	9429	broad.mit.edu	37	4	89053763	89053763	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:89053763G>A	ENST00000237612.3	-	3	773	c.228C>T	c.(226-228)aaC>aaT	p.N76N	ABCG2_ENST00000515655.1_Silent_p.N76N	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	76	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CCAGGATGGCGTTGAGACCAG	0.393																																						uc003hrg.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(226-228)aaC>aaT		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						140.0	136.0	137.0					4																	89053763		2203	4300	6503	SO:0001819	synonymous_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89053763G>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.228C>T	4.37:g.89053763G>A						ABCG2_uc003hrh.3_Silent_p.N76N|ABCG2_uc003hrf.3_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N	p.N76N	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	2	721	-		Hepatocellular(203;0.114)	76			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	ENST00000237612.3	37	c.228C>T	CCDS3628.1																																																																																				0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
UNC5C	8633	broad.mit.edu	37	4	96256705	96256705	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96256705G>C	ENST00000453304.1	-	2	550	c.202C>G	c.(202-204)Cct>Gct	p.P68A	UNC5C_ENST00000506749.1_Missense_Mutation_p.P68A|UNC5C_ENST00000504962.1_Missense_Mutation_p.P68A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	68	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTTCTTCAGGCTCAATAAGG	0.418																																						uc003hto.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(202-204)Cct>Gct		Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.							86.0	80.0	82.0					4																	96256705		2203	4299	6502	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96256705G>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.202C>G	4.37:g.96256705G>C	ENSP00000406022:p.Pro68Ala					UNC5C_uc010ilc.2_Missense_Mutation_p.P68A|UNC5C_uc003htq.3_Missense_Mutation_p.P68A	p.P68A	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	1	555	-		Hepatocellular(203;0.114)	68			Ig-like.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.202C>G	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003386	0.93287	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	0.054011	0.85682	D	0.000000	T	0.77665	0.4164	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	D;P;D	0.97110	1.0;0.874;0.971	T	0.81070	-0.1099	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	68;68;68	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	A	68;27;68;68;68	ENSP00000406022:P68A;ENSP00000426924:P68A;ENSP00000426153:P68A;ENSP00000425117:P68A	ENSP00000328673:P27A	P	-	1	0	UNC5C	96475728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	CCT		0.418	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
PDHA2	5161	broad.mit.edu	37	4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96762205C>T	ENST00000295266.4	+	1	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	302					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTATCGTACACGAGAAGAAAT	0.423																																						uc003htr.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(904-906)Cga>Tga		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						94.0	92.0	93.0					4																	96762205		2203	4300	6503	SO:0001587	stop_gained	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762205C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.904C>T	4.37:g.96762205C>T	ENSP00000295266:p.Arg302*						p.R302*	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	967	+		Hepatocellular(203;0.114)	302					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	c.904C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980352	0.53827	.	.	ENSG00000163114	ENST00000295266	.	.	.	4.91	1.04	0.20106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0511	13.5147	0.61533	0.689:0.311:0.0:0.0	.	.	.	.	X	302	.	ENSP00000295266:R302X	R	+	1	2	PDHA2	96981228	0.937000	0.31787	0.001000	0.08648	0.313000	0.28021	2.006000	0.40874	0.051000	0.15978	-0.366000	0.07423	CGA		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
ADAD1	132612	broad.mit.edu	37	4	123317517	123317517	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:123317517T>C	ENST00000296513.2	+	7	894	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	ADAD1_ENST00000388725.2_Missense_Mutation_p.F219L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.F237L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	237					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTGGCTGCTTTTATAATTGA	0.279																																						uc003ieo.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(709-711)Ttt>Ctt		Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.							47.0	52.0	50.0					4																	123317517		2202	4290	6492	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123317517T>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.709T>C	4.37:g.123317517T>C	ENSP00000296513:p.Phe237Leu					ADAD1_uc003iep.3_Missense_Mutation_p.F237L|ADAD1_uc003ieq.3_Missense_Mutation_p.F219L	p.F237L	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN			6	941	+			237					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.709T>C	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219886	0.58560	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.37584	1.22;1.3;1.19	5.79	5.79	0.91817	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	L	0.41710	1.295	0.80722	D	1	B;B	0.24618	0.026;0.107	B;B	0.26770	0.073;0.037	T	0.11227	-1.0596	10	0.62326	D	0.03	-25.8618	15.1117	0.72362	0.0:0.0:0.0:1.0	.	237;237	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	237;237;237;219	ENSP00000296513:F237L;ENSP00000373376:F237L;ENSP00000373377:F219L	ENSP00000296513:F237L	F	+	1	0	ADAD1	123536967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.554000	0.60760	2.203000	0.70933	0.533000	0.62120	TTT		0.279	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
RASGRF2	5924	broad.mit.edu	37	5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:80382758C>T	ENST00000265080.4	+	9	1443	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	459					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532																																						uc003kha.2																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1375-1377)aCg>aTg		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.							145.0	127.0	133.0					5																	80382758		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80382758C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1376C>T	5.37:g.80382758C>T	ENSP00000265080:p.Thr459Met					RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M	p.T459M	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	8	1426	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	459					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1376C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896445	0.72639	.	.	ENSG00000113319	ENST00000265080	T	0.31247	1.5	5.72	5.72	0.89469	Pleckstrin homology-type (1);	0.105633	0.64402	D	0.000004	T	0.39118	0.1066	M	0.73962	2.25	0.80722	D	1	P;P	0.48294	0.908;0.653	B;B	0.40375	0.327;0.089	T	0.34229	-0.9837	10	0.38643	T	0.18	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	459;459	D6RAS9;O14827	.;RGRF2_HUMAN	M	459	ENSP00000265080:T459M	ENSP00000265080:T459M	T	+	2	0	RASGRF2	80418514	1.000000	0.71417	0.548000	0.28192	0.978000	0.69477	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	ACG		0.532	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
SLC22A5	6584	broad.mit.edu	37	5	131729923	131729923	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:131729923G>T	ENST00000245407.3	+	10	1854	c.1633G>T	c.(1633-1635)Ggt>Tgt	p.G545C	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G569C	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	545					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GTTAAAAGATGGTCAAGAAAG	0.393																																						uc003kwx.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(1705-1707)Ggt>Tgt		Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	L-Carnitine(DB00583)						122.0	115.0	117.0					5																	131729923		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131729923G>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1633G>T	5.37:g.131729923G>T	ENSP00000245407:p.Gly545Cys					SLC22A5_uc003kww.4_Missense_Mutation_p.G545C	p.G569C	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1969	+		all_cancers(142;0.0751)|Breast(839;0.198)	545					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1705G>T	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660533	0.29515	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.74421	-0.78;-0.84	5.28	3.5	0.40072	.	0.825572	0.11372	N	0.570748	T	0.61009	0.2313	N	0.19112	0.55	0.09310	N	0.999999	D;P	0.55172	0.97;0.708	B;B	0.42882	0.401;0.293	T	0.50775	-0.8788	10	0.59425	D	0.04	.	9.1467	0.36937	0.1695:0.0:0.8305:0.0	.	569;545	A2Q0V1;O76082	.;S22A5_HUMAN	C	545;569	ENSP00000245407:G545C;ENSP00000402760:G569C	ENSP00000245407:G545C	G	+	1	0	SLC22A5	131757822	0.968000	0.33430	0.839000	0.33178	0.479000	0.33129	2.510000	0.45468	0.799000	0.34018	0.655000	0.94253	GGT		0.393	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060	
PCDHGB3	56102	broad.mit.edu	37	5	140751480	140751480	+	Missense_Mutation	SNP	G	G	A	rs569737317		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:140751480G>A	ENST00000576222.1	+	1	1650	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	507	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTGTCCGTGAGCGCGCG	0.667													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18069	0.0		0.0	False		,,,				2504	0.0					uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1519-1521)Gtg>Atg		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							53.0	57.0	56.0					5																	140751480		2075	4222	6297	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751480G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1519G>A	5.37:g.140751480G>A	ENSP00000461862:p.Val507Met					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.V507M|PCDHGC5_uc011dau.2_5'Flank	p.V507M	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1519	+			509			Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1519G>A	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
GRM6	2916	broad.mit.edu	37	5	178408768	178408768	+	Missense_Mutation	SNP	C	C	T	rs201777089		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:178408768C>T	ENST00000517717.1	-	11	2562	c.2524G>A	c.(2524-2526)Gtc>Atc	p.V842I	GRM6_ENST00000231188.5_Missense_Mutation_p.V842I|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	842					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)		AAGAGGATGACGTAGGTTTTG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20768	0.001		0.0	False		,,,				2504	0.0					uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2524-2526)Gtc>Atc		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.		C	ILE/VAL	0,4406		0,0,2203	170.0	155.0	160.0		2524	1.1	1.0	5		160	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	benign	842/878	178408768	2,13004	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178408768C>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.2524G>A	5.37:g.178408768C>T	ENSP00000430767:p.Val842Ile					GRM6_uc003mjq.3_Missense_Mutation_p.V245I	p.V842I	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2703	-	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)	842						Missense_Mutation	SNP	ENST00000517717.1	37	c.2524G>A	CCDS4442.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.163	-1.079274	0.01903	0.0	2.33E-4	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.86164	-2.08;-2.08	5.47	1.14	0.20703	GPCR, family 3, C-terminal (2);	.	.	.	.	T	0.62865	0.2463	N	0.02142	-0.665	0.32618	N	0.523689	B;B	0.11235	0.004;0.001	B;B	0.14023	0.004;0.01	T	0.59542	-0.7435	9	0.02654	T	1	.	8.281	0.31900	0.0:0.6043:0.0:0.3957	.	842;136	O15303;Q5HYM4	GRM6_HUMAN;.	I	842	ENSP00000231188:V842I;ENSP00000430767:V842I	ENSP00000231188:V842I	V	-	1	0	GRM6	178341374	0.998000	0.40836	1.000000	0.80357	0.150000	0.21749	0.674000	0.25218	0.377000	0.24735	-0.448000	0.05591	GTC		0.587	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
LRFN2	57497	broad.mit.edu	37	6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	rs146316351	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:40359728C>T	ENST00000338305.6	-	3	2866	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	775						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607													C|||	3	0.000599042	0.0023	0.0	5008	,	,		13249	0.0		0.0	False		,,,				2504	0.0					uc003oph.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2323-2325)cGg>cAg		Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	42.0	44.0	44.0		2324	4.4	1.0	6	dbSNP_134	44	0,8600		0,0,4300	yes	missense	LRFN2	NM_020737.1	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	775/790	40359728	4,13002	2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359728C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2324G>A	6.37:g.40359728C>T	ENSP00000345985:p.Arg775Gln						p.R775Q	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	2789	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		775					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2324G>A	CCDS34443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.74	1.728986	0.30684	9.08E-4	0.0	ENSG00000156564	ENST00000338305	T	0.58060	0.36	5.27	4.39	0.52855	.	0.100654	0.64402	D	0.000004	T	0.13030	0.0316	N	0.14661	0.345	0.22489	N	0.999054	B	0.33857	0.429	B	0.20184	0.028	T	0.02471	-1.1154	10	0.44086	T	0.13	.	6.092	0.19999	0.0:0.7541:0.0:0.2459	.	775	Q9ULH4	LRFN2_HUMAN	Q	775	ENSP00000345985:R775Q	ENSP00000345985:R775Q	R	-	2	0	LRFN2	40467706	0.997000	0.39634	0.964000	0.40570	0.675000	0.39556	2.529000	0.45632	2.466000	0.83321	0.555000	0.69702	CGG		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
TTBK1	84630	broad.mit.edu	37	6	43222352	43222352	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:43222352C>T	ENST00000259750.4	+	6	622	c.539C>T	c.(538-540)gCc>gTc	p.A180V	TTBK1_ENST00000304139.5_Missense_Mutation_p.A129V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCGGGCTGGCCCGGCAGTAC	0.652																																						uc003ouq.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(538-540)gCc>gTc		Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.							59.0	60.0	60.0					6																	43222352		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43222352C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.539C>T	6.37:g.43222352C>T	ENSP00000259750:p.Ala180Val						p.A180V	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		5	818	+			180			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.539C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812970	0.96975	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.75821	-0.97	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054186	0.64402	D	0.000001	D	0.85539	0.5720	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87709	0.2565	10	0.87932	D	0	.	17.5136	0.87767	0.0:1.0:0.0:0.0	.	180	Q5TCY1	TTBK1_HUMAN	V	129;180;129	ENSP00000259750:A180V	ENSP00000259750:A180V	A	+	2	0	TTBK1	43330330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.431000	0.82371	0.655000	0.94253	GCC		0.652	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
DEFB114	245928	broad.mit.edu	37	6	49928132	49928132	+	Missense_Mutation	SNP	C	C	T	rs577162073		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:49928132C>T	ENST00000322066.3	-	2	82	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	28					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTTGGTGCAACGATCAGCATT	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15582	0.0		0.0	False		,,,				2504	0.0					uc011dwp.2																			0		p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(82-84)cGt>cAt		Homo sapiens defensin, beta 114 (DEFB114), mRNA.							103.0	93.0	96.0					6																	49928132		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928132C>T	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.83G>A	6.37:g.49928132C>T	ENSP00000312702:p.Arg28His						p.R28H	NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN			1	83	-	Lung NSC(77;0.042)		28					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.83G>A	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227755	0.22542	.	.	ENSG00000177684	ENST00000322066	T	0.14391	2.51	3.55	0.752	0.18398	.	0.497156	0.15401	N	0.264318	T	0.10895	0.0266	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.61874	0.895	T	0.07558	-1.0766	8	.	.	.	-6.758	3.1349	0.06436	0.2092:0.5609:0.0:0.2299	.	28	Q30KQ6	DB114_HUMAN	H	28	ENSP00000312702:R28H	.	R	-	2	0	DEFB114	50036091	0.000000	0.05858	0.001000	0.08648	0.484000	0.33280	-0.206000	0.09398	0.136000	0.18733	0.650000	0.86243	CGT		0.353	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499	
SYNJ2	8871	broad.mit.edu	37	6	158483053	158483053	+	Silent	SNP	C	C	T	rs142499089		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:158483053C>T	ENST00000355585.4	+	8	1059	c.984C>T	c.(982-984)ggC>ggT	p.G328G	SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.G328G|SYNJ2_ENST00000367121.3_Silent_p.G328G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	328	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCACGCGGGCGACACGCCTA	0.567																																						uc003qqx.2																			0		p.A327V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(982-984)ggC>ggT		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	154.0	164.0	160.0		273,984	-4.4	0.9	6	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	91/1260,328/1497	158483053	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483053C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.984C>T	6.37:g.158483053C>T						SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.G328G|SYNJ2_uc003qqy.2_Silent_p.G91G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.2_5'UTR	p.G328G	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	7	1090	+			328			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.984C>T	CCDS5254.1																																																																																				0.567	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
CARD11	84433	broad.mit.edu	37	7	2953020	2953020	+	Missense_Mutation	SNP	G	G	A	rs201847585		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:2953020G>A	ENST00000396946.4	-	22	3323	c.2920C>T	c.(2920-2922)Cgc>Tgc	p.R974C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	974	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACGGGCCGGCGGCGCTCGCAG	0.652			Mis		DLBCL								G|||	1	0.000199681	0.0	0.0	5008	,	,		13035	0.0		0.001	False		,,,				2504	0.0					uc003smv.3				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2920-2922)Cgc>Tgc		Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.		G	CYS/ARG	0,4406		0,0,2203	65.0	60.0	62.0		2920	4.4	1.0	7		62	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CARD11	NM_032415.4	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	974/1155	2953020	2,13004	2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2953020G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2920C>T	7.37:g.2953020G>A	ENSP00000380150:p.Arg974Cys						p.R974C	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	21	3254	-		Ovarian(82;0.0115)	974			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2920C>T	CCDS5336.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.89	2.372434	0.42003	0.0	2.33E-4	ENSG00000198286	ENST00000396946	T	0.32272	1.46	4.36	4.36	0.52297	.	0.064281	0.64402	D	0.000015	T	0.14960	0.0361	N	0.08118	0	0.58432	D	0.999998	B	0.31100	0.308	B	0.18561	0.022	T	0.09378	-1.0677	10	0.72032	D	0.01	-32.2342	11.4845	0.50346	0.0:0.0:0.6923:0.3077	.	974	Q9BXL7	CAR11_HUMAN	C	974	ENSP00000380150:R974C	ENSP00000380150:R974C	R	-	1	0	CARD11	2919546	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.306000	0.51881	1.985000	0.57927	0.484000	0.47621	CGC		0.652	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
CCDC129	223075	broad.mit.edu	37	7	31682505	31682505	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:31682505G>A	ENST00000407970.3	+	11	1559	c.1521G>A	c.(1519-1521)ctG>ctA	p.L507L	CCDC129_ENST00000409210.1_Silent_p.L415L|CCDC129_ENST00000319386.3_Silent_p.L359L|CCDC129_ENST00000451887.2_Silent_p.L533L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	507								p.L359L(1)|p.L507L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGAGTTTCTGCTTGAGGCCA	0.532																																						uc011kae.2																			2	Substitution - coding silent(2)	p.L359L(1)|p.L507L(1)	lung(2)	cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1597-1599)ctG>ctA		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							106.0	107.0	107.0					7																	31682505		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682505G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1521G>A	7.37:g.31682505G>A						CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tcj.1_Silent_p.L507L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc003tck.1_Silent_p.L415L	p.L533L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			10	1611	+			507					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1599G>A	CCDS5435.2																																																																																				0.532	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
AEBP1	165	broad.mit.edu	37	7	44146386	44146386	+	Silent	SNP	G	G	A	rs144974496		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:44146386G>A	ENST00000223357.3	+	2	800	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	165	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCCCGTCAGGGAAGA	0.652																																						uc003tkb.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(493-495)ccG>ccA		Homo sapiens AE binding protein 1 (AEBP1), mRNA.		G		0,4388		0,0,2194	49.0	54.0	52.0		495	-1.8	0.0	7	dbSNP_134	52	1,8591		0,1,4295	no	coding-synonymous	AEBP1	NM_001129.3		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		165/1159	44146386	1,12979	2194	4296	6490	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44146386G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.495G>A	7.37:g.44146386G>A							p.P165P	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			1	800	+			165			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.495G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	5.468	0.271352	0.10349	0.0	1.16E-4	ENSG00000106624	ENST00000455443	.	.	.	4.33	-1.83	0.07833	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	2.0383	1.4654	0.02405	0.2831:0.1443:0.4262:0.1463	.	.	.	.	I	123	.	.	V	+	1	0	AEBP1	44112911	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.552000	0.06020	-0.223000	0.09943	0.462000	0.41574	GTC		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55233043G>C	ENST00000275493.2	+	15	1970	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_ENST00000454757.2_Missense_Mutation_p.G545A|EGFR_ENST00000344576.2_Missense_Mutation_p.G598A|EGFR_ENST00000455089.1_Missense_Mutation_p.G553A|EGFR_ENST00000442591.1_Missense_Mutation_p.G598A|EGFR_ENST00000342916.3_Missense_Mutation_p.G598A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gCa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>C	7.37:g.55233043G>C	ENSP00000275493:p.Gly598Ala	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598A	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727885	0.89390	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.996;1.0	P;D;D;D	0.79108	0.557;0.952;0.95;0.992	T	0.74748	-0.3560	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	A	553;598;468;598;598;598;545;392	ENSP00000415559:G553A;ENSP00000342376:G598A;ENSP00000345973:G598A;ENSP00000275493:G598A;ENSP00000410031:G598A;ENSP00000395243:G545A	ENSP00000275493:G598A	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55268064	55268064	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268064C>T	ENST00000275493.2	+	24	3081	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	EGFR_ENST00000454757.2_Silent_p.F915F|EGFR_ENST00000455089.1_Silent_p.F923F|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	968	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCATCGAATTCTCCAAAATGG	0.478		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.F968L(2)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2902-2904)ttC>ttT		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						173.0	148.0	156.0					7																	55268064		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268064C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2904C>T	7.37:g.55268064C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F	p.F968F	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		23	3150	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		968			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2904C>T	CCDS5514.1																																																																																				0.478	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55268067	55268067	+	Silent	SNP	C	C	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268067C>G	ENST00000275493.2	+	24	3084	c.2907C>G	c.(2905-2907)tcC>tcG	p.S969S	EGFR_ENST00000454757.2_Silent_p.S916S|EGFR_ENST00000455089.1_Silent_p.S924S|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	969	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGAATTCTCCAAAATGGCCC	0.483		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0		p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2905-2907)tcC>tcG		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						169.0	145.0	153.0					7																	55268067		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268067C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2907C>G	7.37:g.55268067C>G		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S	p.S969S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		23	3153	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		969			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2907C>G	CCDS5514.1																																																																																				0.483	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CHCHD2	51142	broad.mit.edu	37	7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:56170668_56170670delGCT	ENST00000395422.3	-	3	497_499	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	snoU13_ENST00000458988.1_RNA	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	112	CHCH.					mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488																																						uc003tsa.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(334-339)cagcct>cct		Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001651	inframe_deletion	51142					mitochondrion		g.chr7:56170668_56170670delGCT	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.335_337delAGC	7.37:g.56170677_56170679delGCT	ENSP00000378812:p.Gln112del					PSPH_uc003trj.3_Intron	p.Q112del	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	416_418	-	Breast(14;0.214)		112			CHCH.		Q498C3|Q6NZ50	In_Frame_Del	DEL	ENST00000395422.3	37	c.335_337delAGC	CCDS5526.1																																																																																				0.488	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139	
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:71252855C>T	ENST00000329008.5	-	6	863	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	CALN1_ENST00000395275.2_Missense_Mutation_p.V231I|CALN1_ENST00000431984.1_Missense_Mutation_p.V189I|CALN1_ENST00000412588.1_Missense_Mutation_p.V231I|CALN1_ENST00000395276.2_Missense_Mutation_p.V189I|CALN1_ENST00000405452.2_Missense_Mutation_p.V189I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		20837	0.002		0.0	False		,,,				2504	0.0					uc003twb.4																			1	Substitution - Missense(1)	p.V189I(1)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(691-693)Gtc>Atc		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123.0	97.0	106.0		565,691	5.1	1.0	7	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CALN1	NM_001017440.2,NM_031468.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/220,231/262	71252855	1,13005	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252855C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.565G>A	7.37:g.71252855C>T	ENSP00000332498:p.Val189Ile					CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	p.V231I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1082	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	189					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.691G>A	CCDS5541.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	32	5.173620	0.94807	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74632	-0.7;-0.86;-0.7;-0.7;-0.86;-0.7	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80182	0.4576	L	0.29908	0.895	0.52099	D	0.99994	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.82731	-0.0312	10	0.72032	D	0.01	0.0876	17.5493	0.87872	0.0:1.0:0.0:0.0	.	189;189	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	I	189;231;189;189;231;189	ENSP00000332498:V189I;ENSP00000378690:V231I;ENSP00000378691:V189I;ENSP00000410704:V189I;ENSP00000391882:V231I;ENSP00000384354:V189I	ENSP00000332498:V189I	V	-	1	0	CALN1	70890791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GTC		0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
SEMA3E	9723	broad.mit.edu	37	7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:83032082G>A	ENST00000307792.3	-	10	1476	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R277*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	337	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R337*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403																																						uc003uhy.2																			1	Substitution - Nonsense(1)	p.R337*(2)	skin(1)	breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1009-1011)Cga>Tga		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.							51.0	46.0	48.0					7																	83032082		2203	4298	6501	SO:0001587	stop_gained	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83032082G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1009C>T	7.37:g.83032082G>A	ENSP00000303212:p.Arg337*					SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277*	p.R337*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			9	1630	-		Medulloblastoma(109;0.109)	337			Sema.		B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	c.1009C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	37	6.266071	0.97426	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.48	0.0836	0.14434	.	0.097451	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	16.5047	0.84268	0.0:0.0:0.6439:0.3561	.	.	.	.	X	337;277;337	.	ENSP00000303212:R337X	R	-	1	2	SEMA3E	82870018	0.997000	0.39634	0.983000	0.44433	0.984000	0.73092	0.892000	0.28322	-0.216000	0.10048	0.585000	0.79938	CGA		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
ABCB4	5244	broad.mit.edu	37	7	87074204	87074204	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:87074204A>G	ENST00000265723.4	-	10	1204	c.1093T>C	c.(1093-1095)Tat>Cat	p.Y365H	ABCB4_ENST00000359206.3_Missense_Mutation_p.Y365H|ABCB4_ENST00000545634.1_Missense_Mutation_p.Y365H|ABCB4_ENST00000453593.1_Missense_Mutation_p.Y365H|ABCB4_ENST00000358400.3_Missense_Mutation_p.Y365H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	365					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AAGATCACATATGCTGCTCCT	0.343																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1093-1095)Tat>Cat		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							66.0	64.0	64.0					7																	87074204		2203	4299	6502	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074204A>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1093T>C	7.37:g.87074204A>G	ENSP00000265723:p.Tyr365His					ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H	p.Y365H	NM_018849	NP_061337	P21439	MDR3_HUMAN			9	1169	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		365					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1093T>C	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	a	10.99	1.508101	0.27036	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	5.01	3.77	0.43336	ABC transporter, transmembrane domain, type 1 (1);	0.192322	0.46145	D	0.000314	T	0.55689	0.1936	N	0.02111	-0.68	0.30578	N	0.762793	B;B;B	0.14805	0.008;0.011;0.006	B;B;B	0.20384	0.011;0.029;0.013	T	0.55166	-0.8183	10	0.27785	T	0.31	-9.9248	10.6452	0.45615	0.8565:0.0:0.0:0.1435	.	365;365;365	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	H	365	ENSP00000352135:Y365H;ENSP00000351172:Y365H;ENSP00000265723:Y365H;ENSP00000392983:Y365H;ENSP00000437465:Y365H	ENSP00000265723:Y365H	Y	-	1	0	ABCB4	86912140	0.394000	0.25246	0.999000	0.59377	0.996000	0.88848	1.615000	0.36922	1.886000	0.54624	0.377000	0.23210	TAT		0.343	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
COL1A2	1278	broad.mit.edu	37	7	94054949	94054949	+	Missense_Mutation	SNP	G	G	T	rs72659309		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:94054949G>T	ENST00000297268.6	+	43	3280	c.2809G>T	c.(2809-2811)Ggt>Tgt	p.G937C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	937					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCCCAGGTCGCGATGG	0.478										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)	p.G937S(2)|p.P936S(1)	ovary(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	GRCh37	CM070783	COL1A2	M	rs72659309	c.(2809-2811)Ggt>Tgt		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						105.0	95.0	98.0					7																	94054949		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054949G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2809G>T	7.37:g.94054949G>T	ENSP00000297268:p.Gly937Cys	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G937C	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		42	3280	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		937					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2809G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246330	0.80024	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99186	-5.53	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97849	1.0273	10	0.87932	D	0	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	937	P08123	CO1A2_HUMAN	C	937;938	ENSP00000297268:G937C	ENSP00000297268:G937C	G	+	1	0	COL1A2	93892885	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGT		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
CUX1	1523	broad.mit.edu	37	7	101926060	101926060	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:101926060C>T	ENST00000437600.4	+	22	2305	c.1953C>T	c.(1951-1953)tgC>tgT	p.C651C	CUX1_ENST00000393824.3_Silent_p.C614C|SH2B2_ENST00000536178.1_5'Flank|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.C607C|CUX1_ENST00000292538.4_Silent_p.C653C|CUX1_ENST00000547394.2_Silent_p.C637C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACCTTCTGCGCCAAGAAGT	0.662																																						uc003uyt.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1957-1959)tgC>tgT		Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.							59.0	53.0	55.0					7																	101926060		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101926060C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1953C>T	7.37:g.101926060C>T						CUX1_uc003uyw.3_Silent_p.C607C|CUX1_uc003uyv.3_Silent_p.C637C|CUX1_uc003uyu.3_Silent_p.C651C|CUX1_uc011kkn.2_Silent_p.C614C|SH2B2_uc011kko.2_5'Flank	p.C653C	NM_001913	NP_001904	P39880	CUX1_HUMAN			21	2086	+			0					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	37	c.1959C>T	CCDS47672.1																																																																																				0.662	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913	
SVOPL	136306	broad.mit.edu	37	7	138305873	138305873	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:138305873G>A	ENST00000419765.3	-	13	1304	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SVOPL_ENST00000288513.5_Missense_Mutation_p.P272L|SVOPL_ENST00000421622.1_Missense_Mutation_p.P304L|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Missense_Mutation_p.P272L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	424						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CATCGTGGTGGGGTAGACCTG	0.587																																						uc011kqh.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(1270-1272)cCc>cTc		Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.							58.0	45.0	50.0					7																	138305873		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305873G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1271C>T	7.37:g.138305873G>A	ENSP00000405482:p.Pro424Leu					SVOPL_uc003vue.3_Missense_Mutation_p.P272L	p.P424L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			12	1271	-			424						Missense_Mutation	SNP	ENST00000419765.3	37	c.1271C>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471461	0.84533	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107611	0.64402	D	0.000004	D	0.86209	0.5878	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89252	0.3591	10	0.87932	D	0	-25.1893	18.9961	0.92813	0.0:0.0:1.0:0.0	.	424;272	Q8N434;Q8N434-2	SVOPL_HUMAN;.	L	272;304;272;424	ENSP00000288513:P272L;ENSP00000412830:P304L;ENSP00000417018:P272L;ENSP00000405482:P424L	ENSP00000288513:P272L	P	-	2	0	SVOPL	137956413	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.177000	0.77650	2.484000	0.83849	0.650000	0.86243	CCC		0.587	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
EPPK1	83481	broad.mit.edu	37	8	144940353	144940353	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr8:144940353C>T	ENST00000525985.1	-	2	7140	c.7069G>A	c.(7069-7071)Gtg>Atg	p.V2357M				P58107	EPIPL_HUMAN	epiplakin 1	2357						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.692																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7069-7071)Gtg>Atg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							197.0	191.0	193.0					8																	144940353		2166	4239	6405	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940353C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7069G>A	8.37:g.144940353C>T	ENSP00000436337:p.Val2357Met						p.V2357M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	7082	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2357					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7069G>A		.	.	.	.	.	.	.	.	.	.	C	19.78	3.891731	0.72524	.	.	ENSG00000227184	ENST00000525985	T	0.72725	-0.68	4.39	0.302	0.15786	.	.	.	.	.	T	0.80660	0.4665	M	0.63208	1.945	0.32803	D	0.500356	D	0.76494	0.999	D	0.69824	0.966	D	0.83839	0.0256	9	0.62326	D	0.03	.	15.6158	0.76767	0.0:0.4298:0.5702:0.0	.	2357	E9PPU0	.	M	2357	ENSP00000436337:V2357M	ENSP00000436337:V2357M	V	-	1	0	EPPK1	145012341	0.000000	0.05858	0.996000	0.52242	0.991000	0.79684	-0.736000	0.04882	-0.048000	0.13401	0.586000	0.80456	GTG		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-	rs376107801|rs201540433|rs377523807|rs199665292	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr9:107361451_107361452delGC	ENST00000374779.2	-	1	336_337	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.51																																						uc011lvp.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(241-246)acgctafs		Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.																																				SO:0001589	frameshift_variant	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361451_107361452delGC		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.243_244delGC	9.37:g.107361451_107361452delGC	ENSP00000363911:p.Leu82fs						p.T81fs	NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN			0	243_244	-			81					B2RNE5|B9EGW5|Q6IF53	Frame_Shift_Del	DEL	ENST00000374779.2	37	c.243_244delGC	CCDS35091.1																																																																																				0.510	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482	
MAGEB1	4112	broad.mit.edu	37	X	30268850	30268850	+	Silent	SNP	C	C	T	rs201824203		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:30268850C>T	ENST00000378981.3	+	4	561	c.240C>T	c.(238-240)gaC>gaT	p.D80D	MAGEB1_ENST00000397550.1_Silent_p.D80D|MAGEB1_ENST00000397548.2_Silent_p.D80D	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	80										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCGAATCTGACGAAGGTGCCA	0.557													C|||	1	0.000264901	0.0	0.0	3775	,	,		15086	0.001		0.0	False		,,,				2504	0.0					uc022buh.1																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(238-240)gaC>gaT		Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.							49.0	35.0	40.0					X																	30268850		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30268850C>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.240C>T	X.37:g.30268850C>T						MAGEB1_uc004dcc.3_Silent_p.D80D|MAGEB1_uc004dcd.3_Silent_p.D80D|MAGEB1_uc004dce.3_Silent_p.D80D	p.D80D	NM_177415	NP_803134	P43366	MAGB1_HUMAN			0	240	+			80					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.240C>T	CCDS14222.1																																																																																				0.557	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
ZNF157	7712	broad.mit.edu	37	X	47272323	47272323	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:47272323G>A	ENST00000377073.3	+	4	937	c.851G>A	c.(850-852)cGt>cAt	p.R284H		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	284					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAAACATTTCGTGTAAAGATA	0.443																																						uc004dhr.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(850-852)cGt>cAt		Homo sapiens zinc finger protein 157 (ZNF157), mRNA.							48.0	46.0	47.0					X																	47272323		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272323G>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.851G>A	X.37:g.47272323G>A	ENSP00000366273:p.Arg284His						p.R284H	NM_003446	NP_003437	P51786	ZN157_HUMAN			3	920	+			284					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.851G>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484197	0.26598	.	.	ENSG00000147117	ENST00000377073	T	0.08102	3.13	3.04	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06188	0.0160	L	0.33189	0.99	0.09310	N	1	B	0.24092	0.097	B	0.19946	0.027	T	0.38308	-0.9667	9	0.37606	T	0.19	.	5.3895	0.16236	0.1308:0.2051:0.6641:0.0	.	284	P51786	ZN157_HUMAN	H	284	ENSP00000366273:R284H	ENSP00000366273:R284H	R	+	2	0	ZNF157	47157267	0.000000	0.05858	0.000000	0.03702	0.993000	0.82548	-0.293000	0.08320	0.186000	0.20125	0.600000	0.82982	CGT		0.443	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446	
SUV39H1	6839	broad.mit.edu	37	X	48564987	48564987	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:48564987C>T	ENST00000376687.3	+	5	1264	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_3'UTR|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000337852.6_Silent_p.G369G	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	358	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCCGGGCAGGCGAGGAGCTCA	0.592																																						uc004dkn.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1072-1074)ggC>ggT		Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.							35.0	26.0	29.0					X																	48564987		2203	4300	6503	SO:0001819	synonymous_variant	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48564987C>T	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.1074C>T	X.37:g.48564987C>T						SUV39H1_uc011mmf.2_Silent_p.G369G|SUV39H1_uc011mmg.2_Non-coding_Transcript	p.G358G	NM_003173	NP_003164	O43463	SUV91_HUMAN			4	1119	+			358			Mediates interaction with MECOM (By similarity).|SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	ENST00000376687.3	37	c.1074C>T	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	C	1.388	-0.581501	0.03854	.	.	ENSG00000101945	ENST00000448548	.	.	.	4.83	3.01	0.34805	.	.	.	.	.	T	0.66147	0.2760	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66044	-0.6021	5	0.72032	D	0.01	.	10.0176	0.42024	0.5365:0.4635:0.0:0.0	.	.	.	.	V	353	.	ENSP00000410043:A353V	A	+	2	0	SUV39H1	48449931	0.952000	0.32445	1.000000	0.80357	0.163000	0.22366	0.127000	0.15790	0.433000	0.26313	-0.337000	0.08149	GCG		0.592	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173	
ZC3H12B	340554	broad.mit.edu	37	X	64722205	64722205	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:64722205C>A	ENST00000338957.4	+	5	1694	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.H532N	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	543							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.H393N(1)|p.H479N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGGGACCATGGCTACTA	0.478																																						uc010nko.3																			2	Substitution - Missense(2)	p.H393N(1)|p.H479N(1)	lung(2)	breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1627-1629)Cat>Aat		Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.							55.0	52.0	53.0					X																	64722205		1922	4117	6039	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722205C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1627C>A	X.37:g.64722205C>A	ENSP00000340839:p.His543Asn						p.H543N	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			4	1694	+			532					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1627C>A	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329447	0.41197	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.22945	1.93;1.93	4.95	4.95	0.65309	.	0.100526	0.64402	D	0.000001	T	0.26991	0.0661	L	0.60455	1.87	0.54753	D	0.99998	P	0.38922	0.651	B	0.38378	0.272	T	0.04427	-1.0952	10	0.15952	T	0.53	-42.1289	15.737	0.77853	0.0:1.0:0.0:0.0	.	532	Q5HYM0	ZC12B_HUMAN	N	543;532;479	ENSP00000340839:H543N;ENSP00000408077:H532N	ENSP00000218172:H479N	H	+	1	0	ZC3H12B	64638930	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.445000	0.60007	2.280000	0.76307	0.513000	0.50165	CAT		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
GPR174	84636	broad.mit.edu	37	X	78427065	78427065	+	Silent	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:78427065C>A	ENST00000276077.1	+	1	597	c.561C>A	c.(559-561)acC>acA	p.T187T		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T187fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTATGATGACCATTGGCGAGT	0.458										HNSCC(63;0.18)																												uc004edg.1																			1	Deletion - Frameshift(1)	p.T187fs*3(2)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(559-561)acC>acA		Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.							117.0	104.0	109.0					X																	78427065		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427065C>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.561C>A	X.37:g.78427065C>A		HNSCC(63;0.18)					p.T187T	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			0	597	+			187					Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.561C>A	CCDS14443.1																																																																																				0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
BRWD3	254065	broad.mit.edu	37	X	79960260	79960260	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:79960260G>A	ENST00000373275.4	-	23	2854	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	880					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATATTTTACGTGTTGTCTGT	0.368																																						uc004edt.3																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2638-2640)Cgt>Tgt		Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.							127.0	114.0	119.0					X																	79960260		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79960260G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2638C>T	X.37:g.79960260G>A	ENSP00000362372:p.Arg880Cys					BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R709C|BRWD3_uc004edq.3_Missense_Mutation_p.R476C|BRWD3_uc010nmj.2_Missense_Mutation_p.R476C|BRWD3_uc004edr.3_Missense_Mutation_p.R550C|BRWD3_uc004eds.3_Missense_Mutation_p.R476C|BRWD3_uc004edo.3_Missense_Mutation_p.R476C|BRWD3_uc004edu.3_Missense_Mutation_p.R550C|BRWD3_uc004edv.3_Missense_Mutation_p.R476C|BRWD3_uc004edw.3_Missense_Mutation_p.R476C|BRWD3_uc004edx.3_Missense_Mutation_p.R476C|BRWD3_uc004edy.3_Missense_Mutation_p.R476C|BRWD3_uc004edz.3_Missense_Mutation_p.R550C|BRWD3_uc004eea.3_Missense_Mutation_p.R550C|BRWD3_uc004eeb.3_Missense_Mutation_p.R476C	p.R880C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			22	2901	-			880					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2638C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257796	0.59321	.	.	ENSG00000165288	ENST00000373275	T	0.42131	0.98	4.48	3.59	0.41128	.	0.190295	0.45126	D	0.000388	T	0.45856	0.1363	M	0.71581	2.175	0.41976	D	0.990774	D	0.54397	0.966	P	0.46339	0.513	T	0.48080	-0.9066	9	.	.	.	-2.625	11.2117	0.48802	0.0:0.0:0.6682:0.3318	.	880	Q6RI45	BRWD3_HUMAN	C	880	ENSP00000362372:R880C	.	R	-	1	0	BRWD3	79846916	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.028000	0.49705	0.957000	0.37930	0.544000	0.68410	CGT		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
NRK	203447	broad.mit.edu	37	X	105156744	105156744	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:105156744T>G	ENST00000243300.9	+	14	2649	c.2346T>G	c.(2344-2346)atT>atG	p.I782M	NRK_ENST00000428173.2_Missense_Mutation_p.I783M	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	782					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTAAAAAAATTGAGGTAAATT	0.338										HNSCC(51;0.14)																												uc004emd.3																			0		p.I782fs*66(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(2344-2346)atT>atG		Homo sapiens Nik related kinase (NRK), mRNA.							26.0	23.0	24.0					X																	105156744		1795	4035	5830	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105156744T>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2346T>G	X.37:g.105156744T>G	ENSP00000434830:p.Ile782Met	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.I450M	p.I782M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	2649	+			782					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2346T>G		.	.	.	.	.	.	.	.	.	.	T	8.518	0.868140	0.17250	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77358	-1.08;-1.09	3.59	1.11	0.20524	.	0.875835	0.09643	N	0.774755	T	0.57799	0.2078	N	0.14661	0.345	0.30997	N	0.720793	P;B	0.35411	0.5;0.327	B;B	0.34931	0.192;0.059	T	0.58233	-0.7672	10	0.72032	D	0.01	.	2.4638	0.04547	0.2382:0.1341:0.0:0.6277	.	450;782	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	M	782;783	ENSP00000434830:I782M;ENSP00000438378:I783M	ENSP00000434830:I782M	I	+	3	3	NRK	105043400	0.995000	0.38212	0.436000	0.26797	0.017000	0.09413	1.052000	0.30429	0.115000	0.18071	0.486000	0.48141	ATT		0.338	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
DOCK11	139818	broad.mit.edu	37	X	117748723	117748723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:117748723delC	ENST00000276202.7	+	29	3228	c.3165delC	c.(3163-3165)agcfs	p.S1055fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.S1055fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1055					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGGATTCAGCCCCAAAGATC	0.343																																						uc004eqp.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(3163-3165)agcfs		Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.							76.0	81.0	79.0					X																	117748723		2202	4294	6496	SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117748723delC	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3165delC	X.37:g.117748723delC	ENSP00000276202:p.Ser1055fs					DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs	p.S1055fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			28	3228	+			1055					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	37	c.3165delC	CCDS35373.1																																																																																				0.343	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
MTMR1	8776	broad.mit.edu	37	X	149898608	149898608	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:149898608A>G	ENST00000370390.3	+	6	716	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E	MTMR1_ENST00000538506.1_Missense_Mutation_p.K74E|MTMR1_ENST00000541925.1_Missense_Mutation_p.K93E|MTMR1_ENST00000542156.1_Missense_Mutation_p.K187E|MTMR1_ENST00000451863.2_Missense_Mutation_p.K187E|MTMR1_ENST00000445323.2_Missense_Mutation_p.K195E|MTMR1_ENST00000544228.1_Missense_Mutation_p.K187E	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	187					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTTATAAACAGGAAGA	0.383																																						uc004feh.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(583-585)Aaa>Gaa		Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.							120.0	108.0	112.0					X																	149898608		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149898608A>G	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.559A>G	X.37:g.149898608A>G	ENSP00000359417:p.Lys187Glu					MTMR1_uc011mya.1_Missense_Mutation_p.K93E|MTMR1_uc004feg.1_Missense_Mutation_p.K187E|MTMR1_uc004fei.3_Missense_Mutation_p.K187E|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	p.K195E	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			6	718	+	Acute lymphoblastic leukemia(192;6.56e-05)		187					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.583A>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770991	0.69992	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.78916	2.43	0.80722	D	1	P;B;D	0.76494	0.796;0.222;0.999	B;B;D	0.65874	0.207;0.071;0.939	D	0.88893	0.3347	10	0.33141	T	0.24	.	14.3226	0.66496	1.0:0.0:0.0:0.0	.	187;195;187	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	E	93;93;187;187;195;187;187;74	ENSP00000441879:K93E;ENSP00000431992:K93E;ENSP00000445281:K187E;ENSP00000359417:K187E;ENSP00000414178:K195E;ENSP00000440534:K187E;ENSP00000387446:K187E;ENSP00000443444:K74E	ENSP00000359417:K187E	K	+	1	0	MTMR1	149649266	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.037000	0.93765	1.830000	0.53286	0.486000	0.48141	AAA		0.383	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
PLXNB3	5365	broad.mit.edu	37	X	153032873	153032873	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:153032873G>A	ENST00000361971.5	+	3	705	c.591G>A	c.(589-591)tcG>tcA	p.S197S	U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.S220S|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	197	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGCTGTCGGCAGGGGTGC	0.716													G|||	1	0.000264901	0.0	0.0	3775	,	,		10264	0.001		0.0	False		,,,				2504	0.0					uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(658-660)tcG>tcA		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							10.0	10.0	10.0					X																	153032873		2167	4258	6425	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032873G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.591G>A	X.37:g.153032873G>A						PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Silent_p.S197S|PLXNB3_uc011mzd.1_Intron	p.S220S	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN			3	931	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		197			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.660G>A	CCDS14729.1																																																																																				0.716	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
