#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WDR7	23335	broad.mit.edu	37	18	54547245	54547245	+	Silent	SNP	C	C	A	rs373430666		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:54547245C>A	ENST00000254442.3	+	21	3586	c.3375C>A	c.(3373-3375)acC>acA	p.T1125T	WDR7_ENST00000357574.3_Silent_p.T1092T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1125					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGCAAGCTACCGCTATTGTTT	0.398																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3373-3375)acC>acA		WD repeat domain 7							91.0	84.0	86.0					18																	54547245		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54547245C>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3375C>A	18.37:g.54547245C>A						WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.T1092T	p.T1125T	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3586	+			1125					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3375C>A	CCDS11962.1																																																																																				0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			3	45	1	0	1	1	1	3	45				
DIP2A	23181	broad.mit.edu	37	21	47971767	47971767	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr21:47971767C>T	ENST00000417564.2	+	25	3001	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C|DIP2A_ENST00000318711.7_Missense_Mutation_p.R995C			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	994					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGTGGCGTGCCCACAC	0.662																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2983-2985)Cgt>Tgt		DIP2 disco-interacting protein 2 homolog A (Drosophila)							36.0	39.0	38.0					21																	47971767		2190	4272	6462	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47971767C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2980C>T	21.37:g.47971767C>T	ENSP00000392066:p.Arg994Cys					DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C	p.R995C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	25	3166	+	Breast(49;0.0933)		994					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2983C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111610	0.77210	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.34	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.65668	0.2713	M	0.83483	2.645	0.80722	D	1	D;D;P	0.89917	1.0;0.982;0.907	D;P;B	0.91635	0.999;0.853;0.339	T	0.69606	-0.5100	10	0.87932	D	0	-23.3513	12.8092	0.57629	0.427:0.573:0.0:0.0	.	995;930;994	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	C	990;930;995;994	ENSP00000383133:R990C;ENSP00000400528:R930C;ENSP00000323633:R995C;ENSP00000392066:R994C	ENSP00000323633:R995C	R	+	1	0	DIP2A	46796195	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.055000	0.41345	0.598000	0.29829	-0.169000	0.13324	CGT		0.662	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		5	25	0	0	0	1	0	5	25				
COL12A1	1303	broad.mit.edu	37	6	75812377	75812377	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:75812377G>A	ENST00000322507.8	-	56	8660	c.8351C>T	c.(8350-8352)cCt>cTt	p.P2784L	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2784	Collagen-like 1.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGGCCTGGAGGACCTATGTC	0.502																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8350-8352)cCt>cTt		collagen, type XII, alpha 1							52.0	52.0	52.0					6																	75812377		1829	4087	5916	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75812377G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8351C>T	6.37:g.75812377G>A	ENSP00000325146:p.Pro2784Leu					COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L	p.P2784L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			56	8660	-			2784			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8351C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101860	0.37048	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	5.29	5.29	0.74685	.	0.154579	0.43747	D	0.000534	D	0.94755	0.8307	L	0.28054	0.825	0.80722	D	1	B;B	0.18310	0.027;0.015	B;B	0.23419	0.024;0.046	D	0.92217	0.5781	10	0.27785	T	0.31	.	17.1248	0.86711	0.0:0.0:1.0:0.0	.	1620;2784	Q99715-2;Q99715	.;COCA1_HUMAN	L	2784;422;2708;1620;2708;2784	ENSP00000325146:P2784L;ENSP00000399812:P422L;ENSP00000305147:P1620L;ENSP00000412864:P2708L;ENSP00000421216:P2784L	ENSP00000325146:P2784L	P	-	2	0	COL12A1	75869097	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.654000	0.54453	2.466000	0.83321	0.591000	0.81541	CCT		0.502	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		13	8	0	0	0	1	0	13	8				
KIAA1109	84162	broad.mit.edu	37	4	123091780	123091780	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:123091780G>A	ENST00000264501.4	+	0	351				KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame|KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCTTTAGATGTTGTTCTGGA	0.279																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172								KIAA1109							73.0	68.0	69.0					4																	123091780		1791	4057	5848			84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123091780G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.-23G>A	4.37:g.123091780G>A						KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame|KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame				Q2LD37	K1109_HUMAN			0	351	+								Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Translation_Start_Site	SNP	ENST00000264501.4	37		CCDS43267.1																																																																																				0.279	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		10	7	0	0	0	1	0	10	7				
AOC2	314	broad.mit.edu	37	17	41002342	41002342	+	Missense_Mutation	SNP	C	C	A	rs376029073		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41002342C>A	ENST00000253799.3	+	4	2275	c.2248C>A	c.(2248-2250)Cct>Act	p.P750T	AOC2_ENST00000452774.2_Missense_Mutation_p.P723T|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	750					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTTACCCCCTTTCTCTTA	0.557																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(2248-2250)Cct>Act		amine oxidase, copper containing 2 (retina-specific)							148.0	160.0	156.0					17																	41002342		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41002342C>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2248C>A	17.37:g.41002342C>A	ENSP00000253799:p.Pro750Thr					AOC2_ENST00000452774.2_Missense_Mutation_p.P723T	p.P750T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2275	+		Breast(137;0.000143)	750					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.2248C>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.895006	0.33442	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03689	3.84;3.84	4.97	1.81	0.25067	Copper amine oxidase, C-terminal (1);	0.550760	0.18429	N	0.141483	T	0.01940	0.0061	N	0.08118	0	0.31286	N	0.689954	B;B	0.09022	0.001;0.002	B;B	0.17433	0.008;0.018	T	0.30621	-0.9972	10	0.56958	D	0.05	3.0625	2.7623	0.05310	0.1492:0.546:0.1445:0.1603	.	750;723	O75106;O75106-2	AOC2_HUMAN;.	T	750;723	ENSP00000253799:P750T;ENSP00000406134:P723T	ENSP00000253799:P750T	P	+	1	0	AOC2	38255868	0.846000	0.29590	0.499000	0.27577	0.872000	0.50106	1.670000	0.37502	0.126000	0.18424	0.561000	0.74099	CCT		0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		5	255	1	0	2.0095e-06	1	2.32132e-06	5	255				
FASN	2194	broad.mit.edu	37	17	80046850	80046850	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:80046850G>T	ENST00000306749.2	-	14	2517	c.2299C>A	c.(2299-2301)Ctg>Atg	p.L767M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	767	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTACCTGCAGCAGGGCGTGG	0.697																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2299-2301)Ctg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						28.0	23.0	25.0					17																	80046850		2187	4291	6478	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046850G>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2299C>A	17.37:g.80046850G>T	ENSP00000304592:p.Leu767Met						p.L767M	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		14	2517	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		767			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2299C>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021131	0.54576	.	.	ENSG00000169710	ENST00000306749	T	0.55760	0.5	4.38	3.4	0.38934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.000000	0.56097	D	0.000021	T	0.71013	0.3290	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.71364	-0.4615	10	0.56958	D	0.05	-20.0757	7.4832	0.27417	0.2628:0.0:0.7372:0.0	.	767	P49327	FAS_HUMAN	M	767	ENSP00000304592:L767M	ENSP00000304592:L767M	L	-	1	2	FASN	77640139	0.995000	0.38212	1.000000	0.80357	0.881000	0.50899	1.757000	0.38400	0.835000	0.34877	0.462000	0.41574	CTG		0.697	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		7	9	1	0	0.00448238	1	0.00492327	7	9				
TAOK2	9344	broad.mit.edu	37	16	29998886	29998886	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:29998886G>A	ENST00000308893.4	+	16	4336	c.3293G>A	c.(3292-3294)cGg>cAg	p.R1098Q	TAOK2_ENST00000416441.2_Missense_Mutation_p.R925Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R985Q|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1098					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGGCCTTCCGGGCCCTGCAG	0.701																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3292-3294)cGg>cAg		TAO kinase 2							47.0	56.0	53.0					16																	29998886		2197	4299	6496	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998886G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3293G>A	16.37:g.29998886G>A	ENSP00000310094:p.Arg1098Gln					TAOK2_ENST00000543033.1_Missense_Mutation_p.R985Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R925Q|TAOK2_ENST00000279394.3_Intron	p.R1098Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4336	+			1098					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3293G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858156	0.51376	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.71698	-0.55;-0.59	4.8	3.84	0.44239	.	0.344076	0.21123	N	0.079789	T	0.46814	0.1412	N	0.08118	0	0.23095	N	0.998303	B;B;B	0.15473	0.0;0.013;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.24476	-1.0159	9	.	.	.	.	10.1636	0.42866	0.0944:0.0:0.9056:0.0	.	1289;925;1098	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	Q	1098;985	ENSP00000310094:R1098Q;ENSP00000440336:R985Q	.	R	+	2	0	TAOK2	29906387	1.000000	0.71417	0.939000	0.37840	0.982000	0.71751	5.257000	0.65473	1.254000	0.44035	0.563000	0.77884	CGG		0.701	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	106	0	0	0	1	0	8	106				
ZNF208	7757	broad.mit.edu	37	19	22155282	22155282	+	Missense_Mutation	SNP	T	T	C	rs536562250		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:22155282T>C	ENST00000397126.4	-	4	2702	c.2554A>G	c.(2554-2556)Aag>Gag	p.K852E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	852					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAATTACCTTATGTTTAGTA	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2554-2556)Aag>Gag		zinc finger protein 208							39.0	42.0	41.0					19																	22155282		2007	4203	6210	SO:0001583	missense	7757							g.chr19:22155282T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2554A>G	19.37:g.22155282T>C	ENSP00000380315:p.Lys852Glu					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.K852E	NM_007153.3	NP_009084.2					4	2702	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2554A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403420	0.25291	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	2.51	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	.	.	.	0.22034	N	0.999408	D	0.67145	0.996	P	0.62014	0.897	T	0.12344	-1.0551	8	0.35671	T	0.21	.	8.7226	0.34449	0.0:0.0:0.3314:0.6686	.	752	O43345	ZN208_HUMAN	E	852;752	ENSP00000380315:K852E	ENSP00000380315:K852E	K	-	1	0	ZNF208	21947122	0.000000	0.05858	0.003000	0.11579	0.355000	0.29361	-3.695000	0.00391	-0.120000	0.11809	0.102000	0.15555	AAG		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	77	0	0	0	1	0	3	77				
EI24	9538	broad.mit.edu	37	11	125450015	125450015	+	Silent	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:125450015C>A	ENST00000278903.6	+	8	830	c.588C>A	c.(586-588)atC>atA	p.I196I	EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	196			I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:11753653}.		apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCTTTCCCATCCATCTTGTCG	0.423																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(586-588)atC>atA		etoposide induced 2.4							368.0	342.0	350.0					11																	125450015		1913	4129	6042	SO:0001819	synonymous_variant	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125450015C>A	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.588C>A	11.37:g.125450015C>A						EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	p.I196I	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	8	830	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	196		I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions).			A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	37	c.588C>A																																																																																					0.423	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		104	179	1	0	4.07704e-43	1	5.15399e-43	104	179				
MAS1	4142	broad.mit.edu	37	6	160328313	160328313	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:160328313C>T	ENST00000252660.4	+	1	340	c.326C>T	c.(325-327)tCa>tTa	p.S109L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	109					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTCACATTATCAGTGACTTTT	0.453																																						ENST00000252660.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(325-327)tCa>tTa		MAS1 oncogene							173.0	165.0	168.0					6																	160328313		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328313C>T	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.326C>T	6.37:g.160328313C>T	ENSP00000252660:p.Ser109Leu						p.S109L	NM_002377.2	NP_002368.1	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	340	+		Breast(66;0.000776)|Ovarian(120;0.0303)	109					E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.326C>T	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640746	0.14386	.	.	ENSG00000130368	ENST00000252660	T	0.71698	-0.59	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.296299	0.24438	N	0.038525	T	0.29817	0.0745	N	0.10782	0.045	0.23607	N	0.997307	B	0.16396	0.017	B	0.22880	0.042	T	0.04178	-1.0971	10	0.10902	T	0.67	.	12.0855	0.53695	0.0:0.9216:0.0:0.0784	.	109	P04201	MAS_HUMAN	L	109	ENSP00000252660:S109L	ENSP00000252660:S109L	S	+	2	0	MAS1	160248303	0.809000	0.29036	0.003000	0.11579	0.478000	0.33099	2.413000	0.44618	2.665000	0.90641	0.655000	0.94253	TCA		0.453	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		34	88	0	0	0	1	0	34	88				
RALYL	138046	broad.mit.edu	37	8	85097149	85097149	+	Intron	SNP	A	A	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:85097149A>T	ENST00000521268.1	+	1	1082				RALYL_ENST00000518566.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000521695.1_Intron|RALYL_ENST00000517638.1_De_novo_Start_OutOfFrame	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCTCCAGGCCACGCGAGCCGG	0.657																																						ENST00000517638.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24								RALY RNA binding protein-like							40.0	39.0	40.0					8																	85097149		692	1591	2283	SO:0001627	intron_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85097149A>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.-24+490A>T	8.37:g.85097149A>T						RALYL_ENST00000518566.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000521695.1_Intron|RALYL_ENST00000521268.1_Intron		NM_001100391.1	NP_001093861.1	Q86SE5	RALYL_HUMAN			0	40	+								B3KTH2|G3V129|Q6ZW87|Q8N1C2	Translation_Start_Site	SNP	ENST00000521268.1	37		CCDS55253.1																																																																																				0.657	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			11	18	0	0	0	1	0	11	18				
ROCK1	6093	broad.mit.edu	37	18	18625328	18625328	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:18625328T>C	ENST00000399799.2	-	5	1455	c.515A>G	c.(514-516)gAa>gGa	p.E172G		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCCCATTTTTCAGGCACATC	0.368																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(514-516)gAa>gGa		Rho-associated, coiled-coil containing protein kinase 1							123.0	113.0	116.0					18																	18625328		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18625328T>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.515A>G	18.37:g.18625328T>C	ENSP00000382697:p.Glu172Gly						p.E172G	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			5	1455	-	Melanoma(1;0.165)		172			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.515A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467755	0.84533	.	.	ENSG00000067900	ENST00000399799	T	0.31510	1.49	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050824	0.85682	D	0.000000	T	0.60025	0.2237	M	0.89904	3.07	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	T	0.69401	-0.5155	10	0.66056	D	0.02	.	15.5304	0.75956	0.0:0.0:0.0:1.0	.	172	Q13464	ROCK1_HUMAN	G	172	ENSP00000382697:E172G	ENSP00000382697:E172G	E	-	2	0	ROCK1	16879326	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.008000	0.70739	2.246000	0.74042	0.533000	0.62120	GAA		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		8	5	0	0	0	1	0	8	5				
TRIM31	11074	broad.mit.edu	37	6	30078314	30078314	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:30078314C>T	ENST00000376734.3	-	4	780	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	219				ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCAGTGGAGGCAACATAGTGT	0.522																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(655-657)Gcc>Acc		tripartite motif containing 31							216.0	193.0	200.0					6																	30078314		2203	4300	6503	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30078314C>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.655G>A	6.37:g.30078314C>T	ENSP00000365924:p.Ala219Thr					TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	p.A219T	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			4	780	-			219	ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165).				A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.655G>A	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	C	0.360	-0.939804	0.02322	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.67171	-0.25;-0.25	3.39	-6.79	0.01715	.	.	.	.	.	T	0.13200	0.0320	N	0.11201	0.11	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.19031	-1.0318	9	0.05959	T	0.93	.	7.7691	0.28997	0.0:0.5129:0.2836:0.2035	.	219	Q9BZY9	TRI31_HUMAN	T	219	ENSP00000365924:A219T;ENSP00000444311:A219T	ENSP00000365918:A219T	A	-	1	0	TRIM31	30186293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.610000	0.00885	-1.634000	0.01537	-1.436000	0.01078	GCC		0.522	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			5	145	0	0	0	1	0	5	145				
MTTP	4547	broad.mit.edu	37	4	100534204	100534204	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:100534204C>T	ENST00000265517.5	+	15	2327	c.2124C>T	c.(2122-2124)aaC>aaT	p.N708N	MTTP_ENST00000511045.1_Silent_p.N735N|MTTP_ENST00000457717.1_Silent_p.N708N|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	708					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.N708N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CCTTTTTCAACGGATACAGTG	0.478																																						ENST00000457717.1																			1	Substitution - coding silent(1)	p.N708N(1)	endometrium(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2122-2124)aaC>aaT		microsomal triglyceride transfer protein	Hesperetin(DB01094)						183.0	162.0	169.0					4																	100534204		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534204C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2124C>T	4.37:g.100534204C>T						MTTP_ENST00000511045.1_Silent_p.N735N|MTTP_ENST00000265517.5_Silent_p.N708N|RP11-766F14.1_ENST00000508578.1_RNA	p.N708N	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2380	+			708					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2124C>T	CCDS3651.1																																																																																				0.478	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			3	78	0	0	0	1	0	3	78				
ASB17	127247	broad.mit.edu	37	1	76397716	76397716	+	Silent	SNP	G	G	A	rs11811988	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:76397716G>A	ENST00000284142.6	-	1	400	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	87					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(259-261)ctC>ctT		ankyrin repeat and SOCS box containing 17							108.0	102.0	104.0					1																	76397716		2203	4300	6503	SO:0001819	synonymous_variant	127247				intracellular signal transduction			g.chr1:76397716G>A	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.261C>T	1.37:g.76397716G>A							p.L87L	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	400	-			87					B1APB8|Q8N0X5	Silent	SNP	ENST00000284142.6	37	c.261C>T	CCDS671.1																																																																																				0.378	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		17	28	0	0	0	1	0	17	28				
HTR3C	170572	broad.mit.edu	37	3	183778109	183778109	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:183778109T>A	ENST00000318351.1	+	9	1347	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	438					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GCCTCCTCCATCCTTACTGTC	0.567																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(1312-1314)aTc>aAc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							235.0	198.0	210.0					3																	183778109		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183778109T>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1313T>A	3.37:g.183778109T>A	ENSP00000322617:p.Ile438Asn						p.I438N	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1347	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		438					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1313T>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055816	0.76074	.	.	ENSG00000178084	ENST00000318351	D	0.81996	-1.56	4.35	3.2	0.36748	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.729498	0.12428	N	0.469766	D	0.84906	0.5576	L	0.55481	1.735	0.09310	N	1	D	0.56287	0.975	P	0.56216	0.794	T	0.73720	-0.3894	10	0.72032	D	0.01	-6.8455	7.939	0.29946	0.0:0.099:0.0:0.901	.	438	Q8WXA8	5HT3C_HUMAN	N	438	ENSP00000322617:I438N	ENSP00000322617:I438N	I	+	2	0	HTR3C	185260803	0.002000	0.14202	0.006000	0.13384	0.751000	0.42716	1.285000	0.33261	0.729000	0.32403	0.529000	0.55759	ATC		0.567	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		90	170	0	0	0	1	0	90	170				
PCDHA9	9752	broad.mit.edu	37	5	140242415	140242415	+	Intron	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:140242415C>T	ENST00000532602.1	+	1	3427				AC005609.1_ENST00000502505.1_Silent_p.A187A|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGACGCGGGCATGC	0.637																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(559-561)gcG>gcA																																						SO:0001627	intron_variant	0							g.chr5:140242415C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+11941C>T	5.37:g.140242415C>T						PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.A187A							1	809	-								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.561G>A	CCDS54920.1																																																																																				0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		8	33	0	0	0	1	0	8	33				
VIT	5212	broad.mit.edu	37	2	37035976	37035976	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:37035976G>A	ENST00000389975.3	+	14	2008	c.1706G>A	c.(1705-1707)aGt>aAt	p.S569N	VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000379242.3_Missense_Mutation_p.S584N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	569	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTACTGGAGTGGTGGCACC	0.567																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1750-1752)aGt>aAt		vitrin							82.0	77.0	79.0					2																	37035976		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035976G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1706G>A	2.37:g.37035976G>A	ENSP00000374625:p.Ser569Asn					VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N	p.S584N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	2053	+		all_hematologic(82;0.248)	569			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1751G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672644	0.67928	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	L	0.38733	1.17	0.58432	D	0.999995	D;P;D;D	0.76494	0.996;0.95;0.996;0.999	D;P;D;D	0.68353	0.957;0.828;0.957;0.928	T	0.80276	-0.1450	10	0.38643	T	0.18	-18.5675	13.8446	0.63459	0.0736:0.0:0.9264:0.0	.	548;547;569;584	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	N	584;569;238;521;547;548	ENSP00000368544:S584N;ENSP00000374625:S569N;ENSP00000417874:S238N;ENSP00000384154:S521N;ENSP00000368543:S547N;ENSP00000385658:S548N	ENSP00000368543:S547N	S	+	2	0	VIT	36889480	1.000000	0.71417	0.923000	0.36655	0.757000	0.42996	8.022000	0.88759	1.225000	0.43566	0.557000	0.71058	AGT		0.567	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				3	64	0	0	0	1	0	3	64				
MACF1	23499	broad.mit.edu	37	1	39783026	39783026	+	Silent	SNP	A	A	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:39783026A>G	ENST00000372915.3	+	28	3831	c.3744A>G	c.(3742-3744)aaA>aaG	p.K1248K	MACF1_ENST00000361689.2_Silent_p.K1248K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Silent_p.K1243K|MACF1_ENST00000539005.1_Silent_p.K1248K|MACF1_ENST00000317713.7_Silent_p.K1248K|MACF1_ENST00000567887.1_Silent_p.K1280K|MACF1_ENST00000545844.1_Silent_p.K1248K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1248					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAGGAAAAAGGCTCCCAGC	0.542																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3727-3729)aaA>aaG		microtubule-actin crosslinking factor 1							84.0	80.0	81.0					1																	39783026		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39783026A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3744A>G	1.37:g.39783026A>G						MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.K1248K|MACF1_ENST00000317713.7_Silent_p.K1248K|MACF1_ENST00000567887.1_Silent_p.K1280K|MACF1_ENST00000545844.1_Silent_p.K1248K|MACF1_ENST00000361689.2_Silent_p.K1248K|MACF1_ENST00000372915.3_Silent_p.K1248K	p.K1243K			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		29	4506	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1248					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.3729A>G		.	.	.	.	.	.	.	.	.	.	A	10.93	1.490827	0.26774	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.74	2.11	0.27256	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46624	-0.9178	4	.	.	.	.	7.326	0.26555	0.5627:0.0:0.4373:0.0	.	.	.	.	G	382	.	.	R	+	1	2	MACF1	39555613	0.998000	0.40836	0.994000	0.49952	0.977000	0.68977	0.531000	0.23052	0.458000	0.26988	0.451000	0.29950	AGG		0.542	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	36	0	0	0	1	0	3	36				
NDST4	64579	broad.mit.edu	37	4	115856461	115856461	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:115856461G>T	ENST00000264363.2	-	6	2115	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	479	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAGTGTGAGTGAACAACCCAC	0.413																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1435-1437)ttC>ttA		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							140.0	141.0	141.0					4																	115856461		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115856461G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1437C>A	4.37:g.115856461G>T	ENSP00000264363:p.Phe479Leu						p.F479L	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	6	2115	-		Ovarian(17;0.156)	479			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1437C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182637	0.78677	.	.	ENSG00000138653	ENST00000264363	T	0.51574	0.7	5.12	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.89287	3.02	0.53005	D	0.999963	D	0.69078	0.997	D	0.71414	0.973	T	0.72779	-0.4190	10	0.87932	D	0	.	9.0679	0.36475	0.2285:0.0:0.7715:0.0	.	479	Q9H3R1	NDST4_HUMAN	L	479	ENSP00000264363:F479L	ENSP00000264363:F479L	F	-	3	2	NDST4	116075910	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.300000	0.51834	1.137000	0.42214	0.591000	0.81541	TTC		0.413	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		18	38	1	0	6.94344e-10	1	8.16159e-10	18	38				
MUC16	94025	broad.mit.edu	37	19	9005698	9005698	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:9005698G>A	ENST00000397910.4	-	46	39911	c.39708C>T	c.(39706-39708)gaC>gaT	p.D13236D	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13238	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D388D(1)|p.D13236D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGATGGCGTCCACTCTGG	0.572																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.D388D(1)|p.D13236D(1)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39706-39708)gaC>gaT		mucin 16, cell surface associated							78.0	75.0	76.0					19																	9005698		2058	4184	6242	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9005698G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39708C>T	19.37:g.9005698G>A							p.D13236D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			46	39911	-			13238			SEA 8.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39708C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.533	-0.308043	0.05458	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.51	-7.02	0.01589	.	.	.	.	.	T	0.49218	0.1544	.	.	.	.	.	.	.	.	.	.	.	.	T	0.57751	-0.7757	3	.	.	.	-11.1203	15.4794	0.75514	0.3131:0.0:0.6869:0.0	.	.	.	.	M	76	.	.	T	-	2	0	MUC16	8866698	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.269000	0.00532	-3.097000	0.00245	-3.376000	0.00041	ACG		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	25	0	0	0	1	0	13	25				
SEMA6D	80031	broad.mit.edu	37	15	48058097	48058097	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:48058097G>T	ENST00000316364.5	+	14	1898	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	487	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGACAAAAAGGTCATCTCATT	0.428																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1459-1461)Gtc>Ttc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							201.0	175.0	184.0					15																	48058097		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058097G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1459G>T	15.37:g.48058097G>T	ENSP00000324857:p.Val487Phe					SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F	p.V487F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1898	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	487			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1459G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766629	0.69878	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.68	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.114714	0.64402	D	0.000015	T	0.51278	0.1665	M	0.83384	2.64	0.80722	D	1	D;D;D;P;D	0.65815	0.995;0.991;0.995;0.834;0.995	D;P;D;P;D	0.63957	0.92;0.835;0.92;0.536;0.92	T	0.56926	-0.7898	10	0.87932	D	0	.	14.0577	0.64779	0.0721:0.0:0.9279:0.0	.	487;487;487;487;487	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	F	487	ENSP00000442040:V487F;ENSP00000446152:V487F;ENSP00000324857:V487F;ENSP00000374084:V487F;ENSP00000374083:V487F;ENSP00000346786:V487F;ENSP00000350770:V487F;ENSP00000374079:V487F;ENSP00000348276:V487F	ENSP00000324857:V487F	V	+	1	0	SEMA6D	45845389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.678000	0.61641	2.680000	0.91292	0.650000	0.86243	GTC		0.428	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		28	50	1	0	2.81731e-10	1	3.37071e-10	28	50				
ADCY2	108	broad.mit.edu	37	5	7414748	7414748	+	Silent	SNP	G	G	A	rs149944070		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:7414748G>A	ENST00000338316.4	+	2	362	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	91					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCTTTGCGATATTTATCC	0.428																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(271-273)gcG>gcA		adenylate cyclase 2 (brain)		G		1,4405	2.1+/-5.4	0,1,2202	287.0	260.0	269.0		273	-4.4	0.8	5	dbSNP_134	269	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADCY2	NM_020546.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		91/1092	7414748	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7414748G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.273G>A	5.37:g.7414748G>A							p.A91A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			2	362	+			91					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.273G>A	CCDS3872.2																																																																																				0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	148	0	0	0	1	0	6	148				
MYO1A	4640	broad.mit.edu	37	12	57436930	57436930	+	Missense_Mutation	SNP	G	G	A	rs528049947		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr12:57436930G>A	ENST00000442789.2	-	13	1311	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	MYO1A_ENST00000544473.1_Missense_Mutation_p.R180W|MYO1A_ENST00000300119.3_Missense_Mutation_p.R342W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	342	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGGCGTCCCGAGCATACTGA	0.542																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1024-1026)Cgg>Tgg		myosin IA							118.0	103.0	108.0					12																	57436930		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57436930G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1024C>T	12.37:g.57436930G>A	ENSP00000393392:p.Arg342Trp					MYO1A_ENST00000300119.3_Missense_Mutation_p.R342W|MYO1A_ENST00000544473.1_Missense_Mutation_p.R180W	p.R342W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			13	1311	-			342			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1024C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603818	0.87157	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473;ENST00000492945	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.17	5.17	0.71159	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91985	0.7461	H	0.99058	4.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94627	0.7818	10	0.87932	D	0	.	16.5838	0.84722	0.0:0.0:1.0:0.0	.	342	Q9UBC5	MYO1A_HUMAN	W	342;342;180;38	ENSP00000300119:R342W;ENSP00000393392:R342W;ENSP00000440514:R180W;ENSP00000452229:R38W	ENSP00000300119:R342W	R	-	1	2	MYO1A	55723197	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.380000	0.59581	2.861000	0.98227	0.655000	0.94253	CGG		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		5	80	0	0	0	1	0	5	80				
MST1R	4486	broad.mit.edu	37	3	49935036	49935036	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:49935036C>T	ENST00000296474.3	-	6	1990	c.1963G>A	c.(1963-1965)Gtc>Atc	p.V655I	MST1R_ENST00000344206.4_Missense_Mutation_p.V655I|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	655	IPT/TIG 1.				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)		GTGAGGCTGACGTTGGTAGGC	0.607																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(1963-1965)Gtc>Atc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							83.0	69.0	74.0					3																	49935036		2203	4300	6503	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.chr3:49935036C>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.1963G>A	3.37:g.49935036C>T	ENSP00000296474:p.Val655Ile					MST1R_ENST00000344206.4_Missense_Mutation_p.V655I	p.V655I	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	6	1990	-			655			IPT/TIG 1.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1963G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730284	0.15507	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.80033	-1.33;-1.33	5.35	-7.52	0.01341	Cell surface receptor IPT/TIG (2);Immunoglobulin-like fold (1);	0.522542	0.22100	N	0.064629	T	0.59838	0.2223	N	0.13327	0.33	0.18873	N	0.999988	B;B	0.17667	0.023;0.019	B;B	0.16722	0.012;0.016	T	0.40421	-0.9564	10	0.07644	T	0.81	-5.2541	19.7864	0.96440	0.0:0.8872:0.0:0.1128	.	655;655	Q04912-5;Q04912	.;RON_HUMAN	I	655	ENSP00000296474:V655I;ENSP00000341325:V655I	ENSP00000296474:V655I	V	-	1	0	MST1R	49910040	0.000000	0.05858	0.249000	0.24280	0.915000	0.54546	-0.913000	0.04042	-1.749000	0.01330	-0.258000	0.10820	GTC		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			4	67	0	0	0	1	0	4	67				
SPHKAP	80309	broad.mit.edu	37	2	228881544	228881544	+	Silent	SNP	C	C	T	rs202068655		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:228881544C>T	ENST00000392056.3	-	7	4072	c.4026G>A	c.(4024-4026)tcG>tcA	p.S1342S	SPHKAP_ENST00000344657.5_Silent_p.S1342S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1342						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTGCTTGCGAGGGAGAGC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19783	0.0		0.001	False		,,,				2504	0.0					ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4024-4026)tcG>tcA		SPHK1 interactor, AKAP domain containing		C	,	0,4406		0,0,2203	92.0	81.0	84.0		4026,4026	-3.7	0.0	2		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPHKAP	NM_001142644.1,NM_030623.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1342/1701,1342/1672	228881544	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881544C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4026G>A	2.37:g.228881544C>T						SPHKAP_ENST00000344657.5_Silent_p.S1342S	p.S1342S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4072	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1342					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4026G>A	CCDS46537.1																																																																																				0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	48	0	0	0	1	0	7	48				
PSG4	5672	broad.mit.edu	37	19	43708257	43708257	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:43708257G>T	ENST00000405312.3	-	2	448	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K|PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	71	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TATGTCATTTGCCCTTTGTAC	0.418																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(211-213)Caa>Aaa		pregnancy specific beta-1-glycoprotein 4							188.0	199.0	195.0					19																	43708257		2129	4269	6398	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43708257G>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.211C>A	19.37:g.43708257G>T	ENSP00000384770:p.Gln71Lys					PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K	p.Q71K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			2	448	-		Prostate(69;0.00682)	71			Ig-like V-type.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.211C>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	3.865	-0.029083	0.07589	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.01474	4.85;4.85;4.85;4.85	1.65	-3.31	0.04988	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01287	0.0042	N	0.25426	0.745	0.09310	N	1	B;B;B	0.14012	0.003;0.009;0.005	B;B;B	0.18871	0.023;0.02;0.014	T	0.46317	-0.9200	9	0.33940	T	0.23	.	3.1573	0.06509	0.0:0.2702:0.2395:0.4903	.	71;71;71	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	K	71;71;71;87	ENSP00000244295:Q71K;ENSP00000384770:Q71K;ENSP00000387864:Q71K;ENSP00000388134:Q87K	ENSP00000244295:Q71K	Q	-	1	0	PSG4	48400097	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.883000	0.04170	-0.867000	0.04063	0.173000	0.16961	CAA		0.418	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		73	144	1	0	2.23852e-25	1	2.77743e-25	73	144				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:20170018C>G	ENST00000338912.5	-	0	253									immunoglobulin heavy variable 1/OR15-9 (non-functional)									p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547																																						ENST00000338912.5																			1	Substitution - Missense(1)	p.G85A(1)	lung(1)																	171.0	166.0	167.0					15																	20170018		2107	4229	6336			0							g.chr15:20170018C>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170018C>G														0	253	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			3	153	0	0	0	1	0	3	153				
CDKL2	8999	broad.mit.edu	37	4	76532380	76532380	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:76532380C>T	ENST00000429927.2	-	4	1232	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATACTTGACATCACCAACC	0.418																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(529-531)Gtc>Atc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							94.0	91.0	92.0					4																	76532380		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76532380C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.529G>A	4.37:g.76532380C>T	ENSP00000412365:p.Val177Ile					CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	p.V177I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	1232	-			177			Protein kinase.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.529G>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832933	0.32421	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.65178	-0.14;-0.14	4.72	2.06	0.26882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.39384	0.1076	N	0.11892	0.195	0.26435	N	0.975871	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22103	-1.0226	9	0.35671	T	0.21	-4.3391	5.8974	0.18947	0.0:0.5552:0.0:0.4448	.	177;177	B4DH08;Q92772	.;CDKL2_HUMAN	I	177	ENSP00000412365:V177I;ENSP00000306340:V177I	ENSP00000306340:V177I	V	-	1	0	CDKL2	76751404	0.817000	0.29147	0.993000	0.49108	0.965000	0.64279	1.015000	0.29963	0.717000	0.32145	0.639000	0.83563	GTC		0.418	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		41	54	0	0	0	1	0	41	54				
CDH8	1006	broad.mit.edu	37	16	61891049	61891049	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:61891049G>T	ENST00000577390.1	-	4	1595	c.641C>A	c.(640-642)cCt>cAt	p.P214H	CDH8_ENST00000577730.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000584337.1_Missense_Mutation_p.P214H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGAAAAATAAGGCTGCCCTTC	0.403																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(640-642)cCt>cAt		cadherin 8, type 2							91.0	81.0	85.0					16																	61891049		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891049G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.641C>A	16.37:g.61891049G>T	ENSP00000462701:p.Pro214His					CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H	p.P214H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	1595	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	214			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.641C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634453	0.87660	.	.	ENSG00000150394	ENST00000299345	T	0.50001	0.76	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64483	-0.6397	10	0.59425	D	0.04	.	19.9535	0.97211	0.0:0.0:1.0:0.0	.	214	P55286	CADH8_HUMAN	H	214	ENSP00000299345:P214H	ENSP00000299345:P214H	P	-	2	0	CDH8	60448550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.308000	0.96247	2.710000	0.92621	0.557000	0.71058	CCT		0.403	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	43	1	0	0.0477658	1	0.0507985	8	43				
GIMAP8	155038	broad.mit.edu	37	7	150174547	150174547	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr7:150174547C>T	ENST00000307271.3	+	5	2251	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	559	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTACGAAATACGCGATTATGC	0.473																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1675-1677)taC>taT		GTPase, IMAP family member 8							90.0	91.0	91.0					7																	150174547		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174547C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1677C>T	7.37:g.150174547C>T							p.Y559Y	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2251	+			559						Silent	SNP	ENST00000307271.3	37	c.1677C>T	CCDS34777.1																																																																																				0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		7	114	0	0	0	1	0	7	114				
RANBP9	10048	broad.mit.edu	37	6	13697085	13697085	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:13697085C>T	ENST00000011619.3	-	2	673	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTATTGGATGCGTGGCTCGAA	0.403																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(613-615)acG>acA		RAN binding protein 9							100.0	105.0	103.0					6																	13697085		2203	4299	6502	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13697085C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.615G>A	6.37:g.13697085C>T							p.T205T	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		2	673	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	205			B30.2/SPRY.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.615G>A	CCDS4529.1																																																																																				0.403	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			5	129	0	0	0	1	0	5	129				
ECE1	1889	broad.mit.edu	37	1	21564710	21564710	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:21564710C>A	ENST00000374893.6	-	11	1380	c.1306G>T	c.(1306-1308)Gtg>Ttg	p.V436L	ECE1_ENST00000264205.6_Missense_Mutation_p.V433L|ECE1_ENST00000415912.2_Missense_Mutation_p.V420L|ECE1_ENST00000436918.2_Missense_Mutation_p.V436L|ECE1_ENST00000357071.4_Missense_Mutation_p.V424L|ECE1_ENST00000528294.1_5'UTR	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	436					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGTCACTCACGCAAAACTTC	0.552																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1258-1260)Gtg>Ttg		endothelin converting enzyme 1							78.0	69.0	72.0					1																	21564710		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21564710C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1306G>T	1.37:g.21564710C>A	ENSP00000364028:p.Val436Leu					ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000374893.6_Missense_Mutation_p.V436L|ECE1_ENST00000436918.2_Missense_Mutation_p.V436L|ECE1_ENST00000357071.4_Missense_Mutation_p.V424L|ECE1_ENST00000264205.6_Missense_Mutation_p.V433L	p.V420L	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	11	1383	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	436					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1258G>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965092	0.53507	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.55	4.64	0.57946	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.115296	0.64402	D	0.000017	T	0.68997	0.3062	L	0.58583	1.82	0.53688	D	0.999977	B;B;B;B;B	0.13145	0.007;0.0;0.0;0.001;0.001	B;B;B;B;B	0.25140	0.058;0.002;0.002;0.004;0.001	T	0.66380	-0.5938	10	0.48119	T	0.1	-27.1831	7.913	0.29802	0.0:0.7601:0.0:0.2399	.	436;420;436;424;433	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	L	420;424;436;436;433	ENSP00000405088:V420L;ENSP00000349581:V424L;ENSP00000364028:V436L;ENSP00000388439:V436L;ENSP00000264205:V433L	ENSP00000264205:V433L	V	-	1	0	ECE1	21437297	0.925000	0.31364	0.936000	0.37596	0.994000	0.84299	1.854000	0.39368	1.485000	0.48380	0.655000	0.94253	GTG		0.552	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		3	33	1	0	0.150653	1	0.155289	3	33				
DOK1	1796	broad.mit.edu	37	2	74783766	74783766	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:74783766C>G	ENST00000233668.5	+	5	1640	c.971C>G	c.(970-972)gCt>gGt	p.A324G	DOK1_ENST00000340004.6_3'UTR|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	324					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCACGTCTGCTCAGGCAGGA	0.567																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(970-972)gCt>gGt		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							80.0	84.0	83.0					2																	74783766		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783766C>G	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.971C>G	2.37:g.74783766C>G	ENSP00000233668:p.Ala324Gly					DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR	p.A324G	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			5	1640	+			324					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.971C>G	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	C	1.289	-0.608073	0.03717	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.32753	1.44;1.46	4.71	3.74	0.42951	.	0.312733	0.21958	N	0.066634	T	0.18425	0.0442	L	0.35414	1.06	0.18873	N	0.999985	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.10268	-1.0637	10	0.18276	T	0.48	-32.1236	5.1701	0.15105	0.0:0.6695:0.2146:0.1159	.	313;324	B4DJN1;Q99704	.;DOK1_HUMAN	G	185;324	ENSP00000387016:A185G;ENSP00000233668:A324G	ENSP00000233668:A324G	A	+	2	0	DOK1	74637274	0.032000	0.19561	0.280000	0.24747	0.090000	0.18270	0.526000	0.22971	2.448000	0.82819	0.561000	0.74099	GCT		0.567	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		26	100	0	0	0	1	0	26	100				
DCAF8L2	347442	broad.mit.edu	37	X	27766321	27766321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:27766321C>A	ENST00000451261.2	+	5	1708	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	437										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGGCACAGAGCTGCTAGCCAG	0.428																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1309-1311)Ctg>Atg		DDB1 and CUL4 associated factor 8-like 2							152.0	103.0	118.0					X																	27766321		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766321C>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1309C>A	X.37:g.27766321C>A	ENSP00000462745:p.Leu437Met						p.L437M	NM_001136533.1	NP_001130005.1					5	1708	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1309C>A	CCDS59162.1																																																																																				0.428	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		3	42	1	0	0.184627	1	0.187425	3	42				
DLG4	1742	broad.mit.edu	37	17	7096378	7096378	+	Silent	SNP	C	C	T	rs376280525		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7096378C>T	ENST00000399506.2	-	17	1943	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	DLG4_ENST00000399510.2_Silent_p.S627S|DLG4_ENST00000302955.6_Silent_p.S581S			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	584	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TCTCCCGGGACGACACAAAGT	0.567																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(1879-1881)tcG>tcA		discs, large homolog 4 (Drosophila)		C	,	1,4015		0,1,2007	119.0	123.0	122.0		1743,1881	-8.2	0.7	17		122	0,8358		0,0,4179	no	coding-synonymous,coding-synonymous	DLG4	NM_001128827.1,NM_001365.3	,	0,1,6186	TT,TC,CC		0.0,0.0249,0.0081	,	581/722,627/768	7096378	1,12373	2008	4179	6187	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7096378C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1752G>A	17.37:g.7096378C>T						DLG4_ENST00000399506.2_Silent_p.S584S|DLG4_ENST00000302955.6_Silent_p.S581S	p.S627S	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			19	2733	-			584			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.1881G>A																																																																																					0.567	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		55	39	0	0	0	1	0	55	39				
PLSCR1	5359	broad.mit.edu	37	3	146246434	146246434	+	Silent	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146246434T>C	ENST00000342435.4	-	4	689	c.279A>G	c.(277-279)ttA>ttG	p.L93L	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	93					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GTGGACAGTTTAATGGAGGCT	0.428																																						ENST00000342435.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(277-279)ttA>ttG		phospholipid scramblase 1							99.0	105.0	103.0					3																	146246434		2203	4300	6503	SO:0001819	synonymous_variant	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246434T>C	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.279A>G	3.37:g.146246434T>C						PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L	p.L93L	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN			4	689	-			93					B2R8H8|B4DTE8	Silent	SNP	ENST00000342435.4	37	c.279A>G	CCDS3135.1																																																																																				0.428	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		65	99	0	0	0	1	0	65	99				
CARD18	59082	broad.mit.edu	37	11	105009575	105009575	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:105009575C>A	ENST00000530950.1	-	2	237	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	80	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						AGTTGAGGGTCTTCTTCACAG	0.408																																						ENST00000530950.1																			0				central_nervous_system(1)|ovary(1)	2						c.(238-240)Gac>Tac		caspase recruitment domain family, member 18							240.0	222.0	228.0					11																	105009575		1908	4119	6027	SO:0001583	missense	59082				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:105009575C>A	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.238G>T	11.37:g.105009575C>A	ENSP00000436691:p.Asp80Tyr					CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y	p.D80Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN			2	237	-			80			CARD.		A2RRF8	Missense_Mutation	SNP	ENST00000530950.1	37	c.238G>T	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	12.41	1.929481	0.34096	.	.	ENSG00000255501	ENST00000530950;ENST00000526823;ENST00000532895	T;T;T	0.22945	1.93;1.93;1.93	2.3	2.3	0.28687	DEATH-like (2);Caspase Recruitment (3);	0.385269	0.28635	N	0.014650	T	0.43634	0.1256	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06917	-1.0800	9	0.87932	D	0	.	8.1859	0.31339	0.0:1.0:0.0:0.0	.	80	P57730	CAR18_HUMAN	Y	80;41;41	ENSP00000436691:D80Y;ENSP00000437035:D41Y;ENSP00000437187:D41Y	ENSP00000437035:D41Y	D	-	1	0	CARD18	104514785	0.083000	0.21467	0.052000	0.19188	0.046000	0.14306	1.476000	0.35420	1.572000	0.49736	0.558000	0.71614	GAC		0.408	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		24	179	1	0	1.32003e-05	1	1.49902e-05	24	179				
OTX1	5013	broad.mit.edu	37	2	63282957	63282957	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:63282957G>A	ENST00000282549.2	+	5	847	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	OTX1_ENST00000366671.3_Missense_Mutation_p.V191M	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	191					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCGCGTCCGTGTCGGTGCC	0.682																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(571-573)Gtg>Atg		orthodenticle homeobox 1							13.0	15.0	14.0					2																	63282957		2190	4286	6476	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282957G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.571G>A	2.37:g.63282957G>A	ENSP00000282549:p.Val191Met					OTX1_ENST00000366671.3_Missense_Mutation_p.V191M	p.V191M	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	847	+	Lung NSC(7;0.121)|all_lung(7;0.211)		191					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.571G>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386865	0.42308	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90261	-2.64;-2.64	3.41	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.724429	0.12380	N	0.474030	D	0.84037	0.5384	L	0.44542	1.39	0.29651	N	0.843923	D	0.59357	0.985	B	0.40038	0.317	T	0.78518	-0.2173	10	0.33141	T	0.24	.	6.7278	0.23367	0.1313:0.0:0.8687:0.0	.	191	P32242	OTX1_HUMAN	M	191	ENSP00000355631:V191M;ENSP00000282549:V191M	ENSP00000282549:V191M	V	+	1	0	OTX1	63136461	1.000000	0.71417	0.717000	0.30585	0.743000	0.42351	4.249000	0.58766	1.901000	0.55032	0.462000	0.41574	GTG		0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			3	16	0	0	0	1	0	3	16				
PTCHD3	374308	broad.mit.edu	37	10	27692213	27692213	+	Missense_Mutation	SNP	C	C	T	rs377105186	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:27692213C>T	ENST00000438700.3	-	3	1402	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	429	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGCCAAAGCCGCTCACCACT	0.453													C|||	4	0.000798722	0.0	0.0	5008	,	,		15675	0.001		0.0	False		,,,				2504	0.0031					ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1285-1287)Ggc>Agc		patched domain containing 3		C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	133.0	124.0	127.0		1285	-1.2	0.6	10		127	0,8600		0,0,4300	no	missense	PTCHD3	NM_001034842.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	429/768	27692213	2,13004	2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27692213C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1285G>A	10.37:g.27692213C>T	ENSP00000417658:p.Gly429Ser						p.G429S	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			3	1402	-			429			SSD.		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1285G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	3.161	-0.172111	0.06421	4.54E-4	0.0	ENSG00000182077	ENST00000438700	D	0.83992	-1.79	4.09	-1.22	0.09494	Sterol-sensing domain (1);	0.489441	0.23807	N	0.044374	T	0.61602	0.2360	N	0.21583	0.68	0.25705	N	0.985544	P	0.35923	0.528	B	0.31495	0.131	T	0.59984	-0.7351	10	0.02654	T	1	-10.0096	9.9416	0.41583	0.0:0.2978:0.0:0.7022	.	429	Q3KNS1	PTHD3_HUMAN	S	429	ENSP00000417658:G429S	ENSP00000417658:G429S	G	-	1	0	PTCHD3	27732219	0.028000	0.19301	0.587000	0.28692	0.973000	0.67179	-0.088000	0.11198	-0.161000	0.10983	0.561000	0.74099	GGC		0.453	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		8	95	0	0	0	1	0	8	95				
FBXO43	286151	broad.mit.edu	37	8	101154018	101154018	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:101154018C>T	ENST00000428847.2	-	2	780	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	155					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAACCTTCTGCGAGGTAAACA	0.343																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(463-465)cGc>cAc		F-box protein 43							108.0	100.0	103.0					8																	101154018		1809	4075	5884	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101154018C>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.464G>A	8.37:g.101154018C>T	ENSP00000403293:p.Arg155His						p.R155H	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	780	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		155						Missense_Mutation	SNP	ENST00000428847.2	37	c.464G>A	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085627	0.76642	.	.	ENSG00000156509	ENST00000428847	T	0.62788	-0.0	5.44	4.56	0.56223	.	0.158312	0.56097	D	0.000026	T	0.76190	0.3953	M	0.68593	2.085	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.63957	0.92;0.92	T	0.80061	-0.1540	10	0.87932	D	0	-3.7206	16.6881	0.85315	0.0:0.8705:0.1295:0.0	.	121;155	C9J908;Q4G163	.;FBX43_HUMAN	H	155	ENSP00000403293:R155H	ENSP00000403293:R155H	R	-	2	0	FBXO43	101223194	0.986000	0.35501	0.591000	0.28745	0.044000	0.14063	3.731000	0.55013	1.404000	0.46819	0.563000	0.77884	CGC		0.343	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		47	70	0	0	0	1	0	47	70				
FIBP	9158	broad.mit.edu	37	11	65652991	65652991	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:65652991G>A	ENST00000338369.2	-	5	768	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FIBP_ENST00000533045.1_Intron|FIBP_ENST00000357519.4_Intron|FIBP_ENST00000426652.2_5'Flank	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	219					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGGGTCAGTGGGGGCCTCACC	0.582											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338369.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(655-657)cCc>cTc		fibroblast growth factor (acidic) intracellular binding protein							99.0	105.0	103.0					11																	65652991		2201	4296	6497	SO:0001583	missense	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65652991G>A	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.656C>T	11.37:g.65652991G>A	ENSP00000344572:p.Pro219Leu		OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_ENST00000357519.4_Intron|FIBP_ENST00000533045.1_Intron	p.P219L	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	5	768	-			219					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	c.656C>T	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596553	0.46318	.	.	ENSG00000172500	ENST00000338369	T	0.21191	2.02	4.9	4.9	0.64082	.	0.403365	0.23289	N	0.049802	T	0.13114	0.0318	N	0.08118	0	0.80722	D	1	B	0.20671	0.047	B	0.26094	0.066	T	0.09422	-1.0675	10	0.54805	T	0.06	-18.0363	13.445	0.61136	0.0:0.0:1.0:0.0	.	219	O43427	FIBP_HUMAN	L	219	ENSP00000344572:P219L	ENSP00000344572:P219L	P	-	2	0	FIBP	65409567	1.000000	0.71417	0.983000	0.44433	0.824000	0.46624	2.349000	0.44054	2.543000	0.85770	0.462000	0.41574	CCC		0.582	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		10	130	0	0	0	1	0	10	130				
UBR3	130507	broad.mit.edu	37	2	170885949	170885949	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:170885949T>A	ENST00000272793.5	+	31	4597	c.4547T>A	c.(4546-4548)aTg>aAg	p.M1516K	UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K|UBR3_ENST00000392631.1_Missense_Mutation_p.M337K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1516					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGAAGAGATGAATCCACAG	0.318																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(4546-4548)aTg>aAg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							78.0	74.0	75.0					2																	170885949		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170885949T>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4547T>A	2.37:g.170885949T>A	ENSP00000272793:p.Met1516Lys					UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K	p.M1516K			Q6ZT12	UBR3_HUMAN			31	4597	+			1516					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.4547T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.044|2.044	-0.419377|-0.419377	0.04766|0.04766	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.377771|.	0.33023|.	N|.	0.005379|.	T|.	0.17152|.	0.0412|.	N|N	0.04508|0.04508	-0.205|-0.205	0.25696|0.25696	N|N	0.985634|0.985634	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|.	0.15723|.	-1.0427|.	10|.	0.05959|.	T|.	0.93|.	.|.	7.9521|7.9521	0.30021|0.30021	0.2949:0.0:0.0:0.7051|0.2949:0.0:0.0:0.7051	.|.	1516;337;1545|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	K|R	1516;1545;1516;337;216|578	ENSP00000272793:M1516K;ENSP00000396068:M1516K;ENSP00000376408:M337K;ENSP00000389097:M216K|.	ENSP00000272793:M1516K|.	M|X	+|+	2|1	0|0	UBR3|UBR3	170594195|170594195	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.859000|0.859000	0.49053|0.49053	0.723000|0.723000	0.25939|0.25939	1.876000|1.876000	0.54355|0.54355	0.460000|0.460000	0.39030|0.39030	ATG|TGA		0.318	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		13	33	0	0	0	1	0	13	33				
NTMT1	28989	broad.mit.edu	37	9	132397600	132397600	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr9:132397600G>T	ENST00000372486.1	+	4	878	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	177					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										CGTGATTCTGGACGACGTGGA	0.642																																						ENST00000372486.1																			0											c.(529-531)Gac>Tac		N-terminal Xaa-Pro-Lys N-methyltransferase 1							126.0	104.0	112.0					9																	132397600		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132397600G>T	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.529G>T	9.37:g.132397600G>T	ENSP00000361564:p.Asp177Tyr					NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y	p.D177Y							4	878	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.529G>T	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705371	0.89018	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.42513	0.97;0.97;0.97	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83890	0.0284	10	0.87932	D	0	-34.6651	16.8907	0.86086	0.0:0.0:1.0:0.0	.	177	Q9BV86	NTM1A_HUMAN	Y	177	ENSP00000361564:D177Y;ENSP00000361561:D177Y;ENSP00000361558:D177Y	ENSP00000361558:D177Y	D	+	1	0	METTL11A	131437421	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.406000	0.97321	2.325000	0.78763	0.549000	0.68633	GAC		0.642	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		40	78	1	0	7.88023e-25	1	9.59955e-25	40	78				
HFM1	164045	broad.mit.edu	37	1	91859724	91859724	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:91859724C>G	ENST00000370425.3	-	4	518	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	140					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAGGAACACTCTTCTCAGGTG	0.333																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(418-420)aaG>aaC		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							88.0	87.0	88.0					1																	91859724		2202	4300	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859724C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.420G>C	1.37:g.91859724C>G	ENSP00000359454:p.Lys140Asn					HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.K140N	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	4	518	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	140					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.420G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	7.773	0.707811	0.15239	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444	T;T	0.60424	0.19;1.24	4.13	-4.34	0.03666	.	.	.	.	.	T	0.14830	0.0358	L	0.29908	0.895	0.20307	N	0.999917	B;B	0.33694	0.421;0.148	B;B	0.26969	0.075;0.051	T	0.08452	-1.0721	9	0.54805	T	0.06	.	1.7927	0.03055	0.1541:0.3983:0.1569:0.2907	.	140;140	B7ZM16;A2PYH4	.;HFM1_HUMAN	N	140;173;98	ENSP00000359454:K140N;ENSP00000388900:K98N	ENSP00000359454:K140N	K	-	3	2	HFM1	91632312	0.001000	0.12720	0.003000	0.11579	0.389000	0.30415	-0.371000	0.07513	-0.920000	0.03799	-0.469000	0.05056	AAG		0.333	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		21	66	0	0	0	1	0	21	66				
MKI67	4288	broad.mit.edu	37	10	129899951	129899951	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:129899951G>A	ENST00000368654.3	-	14	9651	c.9276C>T	c.(9274-9276)cgC>cgT	p.R3092R	MKI67_ENST00000368653.3_Silent_p.R2732R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3092					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCGTCTGGAGCGCAGGGATA	0.363																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9274-9276)cgC>cgT		marker of proliferation Ki-67							53.0	55.0	54.0					10																	129899951		2169	4282	6451	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899951G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9276C>T	10.37:g.129899951G>A						MKI67_ENST00000368653.3_Silent_p.R2732R	p.R3092R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			14	9651	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3092					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.9276C>T	CCDS7659.1																																																																																				0.363	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		3	30	0	0	0	1	0	3	30				
ROR2	4920	broad.mit.edu	37	9	94519560	94519560	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr9:94519560G>A	ENST00000375708.3	-	3	655	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	ROR2_ENST00000375715.1_Missense_Mutation_p.R13W|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	153					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCCAGCCGCACAAACAGG	0.537																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(457-459)Cgg>Tgg		receptor tyrosine kinase-like orphan receptor 2							93.0	85.0	88.0					9																	94519560		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94519560G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.457C>T	9.37:g.94519560G>A	ENSP00000364860:p.Arg153Trp					ROR2_ENST00000375715.1_Missense_Mutation_p.R13W|ROR2_ENST00000550066.1_5'UTR	p.R153W	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			3	655	-			153					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.457C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979760	0.74360	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.78816	-1.21;-0.69	4.98	2.86	0.33363	.	0.000000	0.40064	N	0.001192	T	0.80166	0.4573	L	0.29908	0.895	0.53688	D	0.999973	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.65684	0.821;0.913;0.937	T	0.82006	-0.0671	10	0.87932	D	0	.	14.4665	0.67488	0.0:0.0:0.7042:0.2958	.	153;153;13	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	W	13;153	ENSP00000364867:R13W;ENSP00000364860:R153W	ENSP00000364860:R153W	R	-	1	2	ROR2	93559381	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.587000	0.46128	0.740000	0.32651	0.655000	0.94253	CGG		0.537	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			3	106	0	0	0	1	0	3	106				
SORCS3	22986	broad.mit.edu	37	10	106976777	106976777	+	Silent	SNP	C	C	T	rs143982937		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:106976777C>T	ENST00000369701.3	+	19	2858	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	SORCS3_ENST00000369699.4_Silent_p.D163D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	877	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCGAGGACGGCATCAAGC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20769	0.001		0.0	False		,,,				2504	0.0				NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2629-2631)gaC>gaT		sortilin-related VPS10 domain containing receptor 3		C		2,4404	4.2+/-10.8	0,2,2201	178.0	135.0	149.0		2631	-11.6	0.2	10	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous	SORCS3	NM_014978.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		877/1223	106976777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976777C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2631C>T	10.37:g.106976777C>T						SORCS3_ENST00000369699.4_Silent_p.D163D	p.D877D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2858	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	877			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2631C>T	CCDS7558.1																																																																																				0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	71	0	0	0	1	0	9	71				
CPNE9	151835	broad.mit.edu	37	3	9754286	9754286	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:9754286C>T	ENST00000383832.3	+	8	629	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CPNE9_ENST00000383831.3_Missense_Mutation_p.R147W	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	147	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TAGCAATTGTCGGGTCAGTAA	0.532																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(439-441)Cgg>Tgg		copine family member IX							101.0	101.0	101.0					3																	9754286		2047	4210	6257	SO:0001583	missense	151835							g.chr3:9754286C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.439C>T	3.37:g.9754286C>T	ENSP00000373343:p.Arg147Trp					CPNE9_ENST00000383831.3_Missense_Mutation_p.R147W	p.R147W	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			8	629	+	Medulloblastoma(99;0.227)		147			C2 2.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.439C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167795	0.78339	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.39787	1.06;1.06	4.34	3.45	0.39498	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.85945	2.785	0.51767	D	0.999935	D	0.71674	0.998	P	0.58266	0.836	T	0.69285	-0.5185	10	0.87932	D	0	.	12.5242	0.56077	0.1674:0.8326:0.0:0.0	.	147	Q8IYJ1	CPNE9_HUMAN	W	147	ENSP00000373343:R147W;ENSP00000373342:R147W	ENSP00000373342:R147W	R	+	1	2	CPNE9	9729286	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.724000	0.38064	1.026000	0.39733	0.591000	0.81541	CGG		0.532	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		44	71	0	0	0	1	0	44	71				
OR56A1	120796	broad.mit.edu	37	11	6048456	6048456	+	Missense_Mutation	SNP	G	G	A	rs145606510	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:6048456G>A	ENST00000316650.5	-	1	515	c.479C>T	c.(478-480)gCg>gTg	p.A160V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAAGAAGCGCATTCCGCAC	0.493																																						ENST00000316650.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(478-480)gCg>gTg		olfactory receptor, family 56, subfamily A, member 1		G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	150.0	130.0	137.0		479	1.4	0.0	11	dbSNP_134	137	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR56A1	NM_001001917.2	64	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	160/319	6048456	2,12992	2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048456G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.479C>T	11.37:g.6048456G>A	ENSP00000321246:p.Ala160Val						p.A160V	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	515	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	160					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.479C>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287434	0.00248	2.27E-4	1.16E-4	ENSG00000180934	ENST00000316650	T	0.36157	1.27	4.27	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.372941	0.19397	N	0.115261	T	0.13927	0.0337	N	0.05330	-0.07	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.33904	-0.9850	10	0.02654	T	1	.	7.9017	0.29738	0.36:0.0:0.64:0.0	.	160	Q8NGH5	O56A1_HUMAN	V	160	ENSP00000321246:A160V	ENSP00000321246:A160V	A	-	2	0	OR56A1	6005032	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.166000	0.09954	0.186000	0.20125	-0.140000	0.14226	GCG		0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		8	124	0	0	0	1	0	8	124				
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56.0	52.0	53.0					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		3	36	1	0	0.115264	1	0.120667	3	36				
CAPN3	825	broad.mit.edu	37	15	42679977	42679977	+	Silent	SNP	C	C	T	rs144383442		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:42679977C>T	ENST00000397163.3	+	4	744	c.525C>T	c.(523-525)gaC>gaT	p.D175D	CAPN3_ENST00000318023.7_Silent_p.D175D|CAPN3_ENST00000356316.3_Silent_p.D88D|CAPN3_ENST00000349748.3_Silent_p.D175D|CAPN3_ENST00000357568.3_Silent_p.D175D|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	175	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTGGGTGGACGTGGTTATAG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		21839	0.0		0.0	False		,,,				2504	0.001					ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(523-525)gaC>gaT		calpain 3, (p94)		C	,,	3,4403	6.2+/-15.9	0,3,2200	310.0	251.0	271.0		525,525,525	-5.8	0.9	15	dbSNP_134	271	15,8583	9.8+/-36.6	0,15,4284	yes	coding-synonymous,coding-synonymous,coding-synonymous	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1	,,	0,18,6484	TT,TC,CC		0.1745,0.0681,0.1384	,,	175/822,175/816,175/730	42679977	18,12986	2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42679977C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.525C>T	15.37:g.42679977C>T						RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.D175D|CAPN3_ENST00000356316.3_Silent_p.D88D|CAPN3_ENST00000349748.3_Silent_p.D175D|CAPN3_ENST00000318023.7_Silent_p.D175D	p.D175D	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	4	744	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	175			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.525C>T	CCDS45245.1																																																																																				0.493	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			35	160	0	0	0	1	0	35	160				
ZNF585B	92285	broad.mit.edu	37	19	37677690	37677690	+	Missense_Mutation	SNP	G	G	A	rs147861258		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:37677690G>A	ENST00000532828.2	-	5	1000	c.749C>T	c.(748-750)gCg>gTg	p.A250V	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.A195V|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGTGAACGCTTTGCCACA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19294	0.001		0.0	False		,,,				2504	0.0				Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(748-750)gCg>gTg		zinc finger protein 585B		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	175.0	169.0	171.0		749	2.4	1.0	19	dbSNP_134	171	0,8600		0,0,4300	no	missense	ZNF585B	NM_152279.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	250/770	37677690	1,13005	2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677690G>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.749C>T	19.37:g.37677690G>A	ENSP00000433773:p.Ala250Val					ZNF585B_ENST00000531805.1_Missense_Mutation_p.A195V|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	p.A250V	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1000	-			250					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.749C>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683793	0.14907	2.27E-4	0.0	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19105	2.17;2.17	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37348	N	0.002137	T	0.16257	0.0391	L	0.42008	1.315	0.20638	N	0.999871	D;P	0.57899	0.981;0.955	P;B	0.44897	0.463;0.439	T	0.11108	-1.0601	10	0.45353	T	0.12	.	3.8354	0.08891	0.1534:0.2575:0.5891:0.0	.	195;250	E9PQH3;Q52M93	.;Z585B_HUMAN	V	195;250	ENSP00000436774:A195V;ENSP00000433773:A250V	ENSP00000436774:A195V	A	-	2	0	ZNF585B	42369530	0.000000	0.05858	0.983000	0.44433	0.051000	0.14879	-0.378000	0.07446	1.338000	0.45544	0.455000	0.32223	GCG		0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		12	139	0	0	0	1	0	12	139				
PLSCR5	389158	broad.mit.edu	37	3	146307581	146307581	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146307581C>T	ENST00000443512.1	-	6	1639	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PLSCR5_ENST00000482567.1_Silent_p.K200K|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAATTGTAAGCTTTTCATTAA	0.328																																						ENST00000443512.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(634-636)aaG>aaA		phospholipid scramblase family, member 5							106.0	103.0	104.0					3																	146307581		1818	4070	5888	SO:0001819	synonymous_variant	389158							g.chr3:146307581C>T	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.636G>A	3.37:g.146307581C>T						PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5_ENST00000482567.1_Silent_p.K200K	p.K212K	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN			6	1639	-			212					B2RXK5	Silent	SNP	ENST00000443512.1	37	c.636G>A	CCDS46931.1																																																																																				0.328	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		3	53	0	0	0	1	0	3	53				
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	11	6	0	0	0	1	0	11	6				
ADAMTS10	81794	broad.mit.edu	37	19	8668748	8668748	+	Silent	SNP	G	G	A	rs371629978		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:8668748G>A	ENST00000597188.1	-	5	726	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_ENST00000270328.4_Silent_p.D152D|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	152						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(454-456)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 10		G		0,4406		0,0,2203	78.0	70.0	73.0		456	-3.9	0.8	19		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS10	NM_030957.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/1104	8668748	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8668748G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.456C>T	19.37:g.8668748G>A						ADAMTS10_ENST00000597188.1_Silent_p.D152D|ADAMTS10_ENST00000596709.1_5'UTR	p.D152D			Q9H324	ATS10_HUMAN			4	722	-			152					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.456C>T	CCDS12206.1																																																																																				0.572	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		11	48	0	0	0	1	0	11	48				
DIO3	1735	broad.mit.edu	37	14	102028507	102028507	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr14:102028507G>A	ENST00000510508.4	+	1	820	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	DIO3_ENST00000359323.3_Missense_Mutation_p.R199Q|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	225					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTGGAGGACCGGGTCAGCGCA	0.642																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(595-597)cGg>cAg		deiodinase, iodothyronine, type III							65.0	75.0	72.0					14																	102028507		2121	4227	6348	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028507G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.674G>A	14.37:g.102028507G>A	ENSP00000427336:p.Arg225Gln					DIO3_ENST00000510508.4_Missense_Mutation_p.R225Q	p.R199Q	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN			1	820	+		all_neural(303;0.185)	199					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.596G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031385	0.93575	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.50277	0.75;0.75	3.86	3.86	0.44501	.	0.000000	0.56097	U	0.000030	T	0.74869	0.3773	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82833	-0.0262	10	0.87932	D	0	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	199	P55073	IOD3_HUMAN	Q	199;225	ENSP00000352273:R199Q;ENSP00000427336:R225Q	ENSP00000352273:R225Q	R	+	2	0	DIO3;AL049836.1	101098260	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.515000	0.98015	1.998000	0.58463	0.462000	0.41574	CGG		0.642	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		8	101	0	0	0	1	0	8	101				
SLC5A10	125206	broad.mit.edu	37	17	18863892	18863892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:18863892G>A	ENST00000395645.3	+	5	398	c.380G>A	c.(379-381)cGc>cAc	p.R127H	SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000317977.6_Missense_Mutation_p.R71H	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	127					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATTCAGAAGCGCTACGGGGGC	0.607											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(211-213)cGc>cAc		solute carrier family 5 (sodium/sugar cotransporter), member 10							216.0	180.0	193.0					17																	18863892		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18863892G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.380G>A	17.37:g.18863892G>A	ENSP00000379007:p.Arg127His		OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H	p.R71H			A0PJK1	SC5AA_HUMAN			5	783	+			127					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.212G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257711	0.95368	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.98028	-4.67;-3.93;-4.67;-3.93;-3.93;-4.43	4.96	4.96	0.65561	.	0.051915	0.85682	D	0.000000	D	0.99372	0.9779	H	0.99211	4.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.997	D	0.98225	1.0480	10	0.87932	D	0	.	17.8065	0.88602	0.0:0.0:1.0:0.0	.	127;127;127;127;71	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	H	71;127;71;127;127;127	ENSP00000324346:R71H;ENSP00000379008:R127H;ENSP00000379004:R71H;ENSP00000401875:R127H;ENSP00000379007:R127H;ENSP00000379005:R127H	ENSP00000324346:R71H	R	+	2	0	SLC5A10	18804617	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	8.955000	0.93058	2.308000	0.77769	0.561000	0.74099	CGC		0.607	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		10	248	0	0	0	1	0	10	248				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	68	0	0	0	1	0	4	68				
NTM	50863	broad.mit.edu	37	11	132177694	132177694	+	Missense_Mutation	SNP	G	G	A	rs541916621		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:132177694G>A	ENST00000374786.1	+	4	1117	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NTM_ENST00000374784.1_Missense_Mutation_p.R213Q|NTM_ENST00000427481.2_Missense_Mutation_p.R204Q|NTM_ENST00000374791.3_Missense_Mutation_p.R213Q|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.R213Q|NTM_ENST00000539799.1_Missense_Mutation_p.R213Q	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	213	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCCGTGGTACGGAGAGTAAAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17667	0.0		0.0	False		,,,				2504	0.001					ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(637-639)cGg>cAg		neurotrimin							81.0	71.0	74.0					11																	132177694		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177694G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.638G>A	11.37:g.132177694G>A	ENSP00000363918:p.Arg213Gln					NTM_ENST00000374791.3_Missense_Mutation_p.R213Q|NTM_ENST00000539799.1_Missense_Mutation_p.R213Q|NTM_ENST00000374784.1_Missense_Mutation_p.R213Q|NTM_ENST00000425719.2_Missense_Mutation_p.R213Q|NTM_ENST00000427481.2_Missense_Mutation_p.R204Q|NTM_ENST00000474900.1_3'UTR	p.R213Q	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1117	+			213			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.638G>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946298	0.53079	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.046634	0.85682	D	0.000000	T	0.62417	0.2426	L	0.44542	1.39	0.47698	D	0.999498	P;P;P;P;P;P	0.52692	0.807;0.807;0.955;0.693;0.503;0.77	B;B;P;B;B;B	0.44772	0.358;0.272;0.46;0.202;0.18;0.18	T	0.63363	-0.6654	10	0.45353	T	0.12	-20.1674	14.0218	0.64560	0.078:0.0:0.922:0.0	.	213;204;213;213;213;213	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	Q	213;213;204;213;213;213	ENSP00000363923:R213Q;ENSP00000437668:R213Q;ENSP00000416320:R204Q;ENSP00000363918:R213Q;ENSP00000396722:R213Q;ENSP00000363916:R213Q	ENSP00000363916:R213Q	R	+	2	0	NTM	131682904	1.000000	0.71417	0.996000	0.52242	0.198000	0.23893	5.285000	0.65633	2.894000	0.99253	0.591000	0.81541	CGG		0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		7	30	0	0	0	1	0	7	30				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	27	0	0	0	1	0	3	27				
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		4	6						4	6	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3076673	3076675	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:3076673_3076675delCCG	ENST00000355072.5	+	1	266_268	c.121_123delCCG	c.(121-123)ccgdel	p.P49del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	49	Poly-Pro.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		acagccgccaccgccgccgccgc	0.744																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(121-123)del		huntingtin				73,3,68		35,0,3,1,1,32						-3.5	0.0		dbSNP_130	1	207,9,436		96,0,15,4,1,210	no	codingComplex	HTT	NM_002111.6		131,0,18,5,2,242	A1A1,A1A2,A1R,A2A2,A2R,RR		33.1288,49.3056,36.6834				280,12,504				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076673_3076675delCCG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.121_123delCCG	4.37:g.3076682_3076684delCCG	ENSP00000347184:p.Pro49del						p.P49del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	266_268	+		all_epithelial(65;0.18)	49			Poly-Pro.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.121_123delCCG	CCDS43206.1																																																																																				0.744	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		2	4						2	4	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1888283	1888283	+	5'Flank	DEL	A	A	-	rs260408	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:1888283delA	ENST00000505790.1	-	0	0				CTD-2194D22.4_ENST00000514569.1_RNA|IRX4_ENST00000513692.1_5'Flank	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4						establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGCCCCCGCCACCTCGCCCCC	0.697																																						ENST00000514569.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr5:1888283delA	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411		5.37:g.1888283delA	Exception_encountered													0	38	+								B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	RNA	DEL	ENST00000505790.1	37		CCDS3867.1																																																																																				0.697	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		2	4						2	4	---	---	---	---
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581																																						ENST00000510274.1																			0																																																			0							g.chr5:87980814_87980816delGAG																													5.37:g.87980823_87980825delGAG														0	46	+									RNA	DEL	ENST00000510274.1	37																																																																																						0.581	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			4	5						4	5	---	---	---	---
HSPA9	3313	broad.mit.edu	37	5	137892208	137892209	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:137892208_137892209delTT	ENST00000297185.3	-	16	2019_2020	c.1894_1895delAA	c.(1894-1896)aatfs	p.N632fs	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	632					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCTAATATTTTCTCCTGTT	0.401																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(1894-1896)tfs		heat shock 70kDa protein 9 (mortalin)																																				SO:0001589	frameshift_variant	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137892208_137892209delTT	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1894_1895delAA	5.37:g.137892210_137892211delTT	ENSP00000297185:p.Asn632fs					HSPA9_ENST00000501917.2_Intron	p.N632fs	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		16	2019_2020	-			632					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Frame_Shift_Del	DEL	ENST00000297185.3	37	c.1894_1895delAA	CCDS4208.1																																																																																				0.401	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		86	100						86	100	---	---	---	---
SRSF3	6428	broad.mit.edu	37	6	36566669	36566670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:36566669_36566670insA	ENST00000373715.6	+	3	366_367	c.250_251insA	c.(250-252)gaafs	p.E84fs	SRSF3_ENST00000339436.7_Frame_Shift_Ins_p.E84fs	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	84	Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GTCGAATGGTGAAAAAAGAAGT	0.485																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(250-252)aaafs		serine/arginine-rich splicing factor 3																																				SO:0001589	frameshift_variant	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36566669_36566670insA	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.256dupA	6.37:g.36566675_36566675dupA	ENSP00000362820:p.Glu84fs					SRSF3_ENST00000339436.7_Frame_Shift_Ins_p.K84fs	p.K84fs	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN			3	366_367	+			84					B4E241|O08831|P23152|Q5R3K0	Frame_Shift_Ins	INS	ENST00000373715.6	37	c.250_251insA	CCDS4823.1																																																																																				0.485	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		31	106						31	106	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397					ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(37-42)gcc>gc		secreted frizzled-related protein 1				337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166638_41166640delGCT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del						p.AA13del	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	376_378	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	13					O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	c.39_41delAGC	CCDS34886.1																																																																																				0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		5	2						5	2	---	---	---	---
LOC440173	440173	broad.mit.edu	37	9	89628124	89628125	+	lincRNA	INS	-	-	A	rs35998235		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr9:89628124_89628125insA	ENST00000602579.1	-	0	256					NR_027471.1																						TGTCTCCCTTCAAAAAAAAAAA	0.366																																						ENST00000602579.1																			0																																																			0							g.chr9:89628124_89628125insA																													9.37:g.89628135_89628135dupA								NR_027471.1						0	256	-									RNA	INS	ENST00000602579.1	37																																																																																						0.366	RP11-276H19.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052931.2			4	5						4	5	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	T	-	rs112181516		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:55861308delT	ENST00000302124.2	+	1	556	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443																																						ENST00000302124.2																			1	Insertion - Frameshift(1)	p.C178fs*2(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(523-525)cafs		olfactory receptor, family 8, subfamily I, member 2							154.0	146.0	149.0					11																	55861308		2201	4296	6497	SO:0001589	frameshift_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861308delT	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.525delT	11.37:g.55861308delT	ENSP00000303864:p.His175fs					OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs	p.H175fs			Q8N0Y5	OR8I2_HUMAN			1	556	+	Esophageal squamous(21;0.00693)		175					B2RNN4|Q6IFC0|Q96RC5	Frame_Shift_Del	DEL	ENST00000302124.2	37	c.525delT	CCDS31517.1																																																																																				0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		7	273						7	273	---	---	---	---
LINC00558	100861552	broad.mit.edu	37	13	54394435	54394437	+	lincRNA	DEL	CAC	CAC	-	rs35664644|rs10553419		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr13:54394435_54394437delCAC	ENST00000569422.1	+	0	75					NR_047488.1				long intergenic non-protein coding RNA 558																		TGAAAaccatcaccaccaccacc	0.374																																						ENST00000569422.1																			0																																																			0							g.chr13:54394435_54394437delCAC	BC041877		13q14.3	2014-05-09			ENSG00000261517	ENSG00000261517		"""Long non-coding RNAs"""	43702	non-coding RNA	RNA, long non-coding							Standard	NR_047488		Approved		uc031qlu.1		OTTHUMG00000176029		13.37:g.54394444_54394446delCAC								NR_047488.1						0	75	+									RNA	DEL	ENST00000569422.1	37																																																																																						0.374	LINC00558-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431402.1			4	4						4	4	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr14:93761193delT	ENST00000334746.5	-	3	480	c.173delA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGAGGTTCTCTTTTTTTTGTC	0.438																																						ENST00000334746.5																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.K58fs*44(2)|p.R59fs*14(2)	large_intestine(4)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(172-174)agfs		BTB (POZ) domain containing 7							102.0	109.0	107.0					14																	93761193		2203	4300	6503	SO:0001589	frameshift_variant	55727							g.chr14:93761193delT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.173delA	14.37:g.93761193delT	ENSP00000335615:p.Lys58fs					BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs	p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	480	-		all_cancers(154;0.08)	58					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Del	DEL	ENST00000334746.5	37	c.173delA	CCDS32146.1																																																																																				0.438	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		9	104						9	104	---	---	---	---
RUNDC1	146923	broad.mit.edu	37	17	41132963	41132963	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41132963delC	ENST00000361677.1	+	1	382	c.370delC	c.(370-372)cggfs	p.R124fs	PTGES3L-AARSD1_ENST00000421990.2_5'Flank|PTGES3L_ENST00000409446.3_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_5'Flank|PTGES3L-AARSD1_ENST00000409103.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_5'Flank|PTGES3L_ENST00000453594.1_5'Flank	NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	124										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCGCCTTCTGCGGGAGCTCGA	0.726																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(370-372)ggfs		RUN domain containing 1							2.0	3.0	3.0					17																	41132963		1755	3543	5298	SO:0001589	frameshift_variant	146923							g.chr17:41132963delC	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.370delC	17.37:g.41132963delC	ENSP00000354622:p.Arg124fs						p.R124fs	NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	1	382	+		Breast(137;0.00499)	124					Q6Y2K8|Q8IXT9|Q8N3W1	Frame_Shift_Del	DEL	ENST00000361677.1	37	c.370delC	CCDS11448.1																																																																																				0.726	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		2	4						2	4	---	---	---	---
YIF1B	90522	broad.mit.edu	37	19	38806529	38806531	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:38806529_38806531delGCC	ENST00000339413.6	-	1	72_74	c.27_29delGGC	c.(25-30)gcggct>gct	p.9_10AA>A	YIF1B_ENST00000591755.1_In_Frame_Del_p.9_10AA>A|YIF1B_ENST00000592694.1_5'UTR|YIF1B_ENST00000337679.8_In_Frame_Del_p.9_10AA>A|YIF1B_ENST00000329420.8_5'Flank|YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000591784.1_5'Flank	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	9						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCCCCGCAGCCGCCGCCGCCA	0.788																																						ENST00000337679.8																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10						c.(25-30)gct>gc		Yip1 interacting factor homolog B (S. cerevisiae)			,,	1,2077		0,1,1038					,,	-3.9	0.9			3	9,4713		1,7,2353	no	coding,coding,coding	YIF1B	NM_001145463.1,NM_001039673.2,NM_001039672.2	,,	1,8,3391	A1A1,A1R,RR		0.1906,0.0481,0.1471	,,	,,		10,6790				SO:0001651	inframe_deletion	90522					integral to membrane		g.chr19:38806529_38806531delGCC	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.27_29delGGC	19.37:g.38806538_38806540delGCC	ENSP00000343435:p.Ala11del					YIF1B_ENST00000591755.1_In_Frame_Del_p.AA9del|YIF1B_ENST00000592694.1_5'UTR|YIF1B_ENST00000339413.6_In_Frame_Del_p.AA9del	p.AA9del	NM_001145463.1	NP_001138935.1	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		1	32_34	-	all_cancers(60;1.07e-06)		9					H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	In_Frame_Del	DEL	ENST00000339413.6	37	c.27_29delGGC	CCDS33010.1																																																																																				0.788	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		2	4						2	4	---	---	---	---
