#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
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6.0	10.0	9.0					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	25	0	0	0	1	0	3	25				
PCDHGA1	56114	broad.mit.edu	37	5	140712441	140712441	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:140712441C>T	ENST00000517417.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHGA1_ENST00000378105.3_Silent_p.G730G	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	730					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G730G(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGGGAGGCGGCTTAGCGA	0.662																																						ENST00000517417.1																			4	Substitution - coding silent(4)	p.G730G(4)	large_intestine(2)|endometrium(2)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2188-2190)ggC>ggT									65.0	70.0	68.0					5																	140712441		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140712441C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2190C>T	5.37:g.140712441C>T						PCDHGA1_ENST00000378105.3_Silent_p.G730G	p.G730G	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2190	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2190C>T	CCDS54922.1																																																																																				0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		43	74	0	0	0	1	0	43	74				
ODF3L1	161753	broad.mit.edu	37	15	76018478	76018478	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:76018478G>A	ENST00000332145.2	+	3	532	c.309G>A	c.(307-309)ccG>ccA	p.P103P	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	103										kidney(1)|lung(1)	2						CCAGCTGCCCGCAGGTCCCCA	0.592																																						ENST00000332145.2																			0				kidney(1)|lung(1)	2						c.(307-309)ccG>ccA		outer dense fiber of sperm tails 3-like 1							56.0	47.0	50.0					15																	76018478		2197	4294	6491	SO:0001819	synonymous_variant	161753							g.chr15:76018478G>A	BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.309G>A	15.37:g.76018478G>A							p.P103P	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN			3	532	+			103						Silent	SNP	ENST00000332145.2	37	c.309G>A	CCDS10285.1																																																																																				0.592	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286473.1	NM_175881		9	14	0	0	0	1	0	9	14				
EPN1	29924	broad.mit.edu	37	19	56190168	56190168	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:56190168A>G	ENST00000270460.6	+	2	486	c.175A>G	c.(175-177)Atg>Gtg	p.M59V	EPN1_ENST00000411543.2_Missense_Mutation_p.M170V|EPN1_ENST00000085079.7_Missense_Mutation_p.M59V	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	59	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GATCATGAGCATGATCTGGAA	0.592																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(508-510)Atg>Gtg		epsin 1							74.0	71.0	72.0					19																	56190168		2203	4300	6503	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56190168A>G	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.175A>G	19.37:g.56190168A>G	ENSP00000270460:p.Met59Val					EPN1_ENST00000085079.7_Missense_Mutation_p.M59V|EPN1_ENST00000270460.6_Missense_Mutation_p.M59V	p.M170V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	3	1055	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	59					Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.508A>G	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065114	0.55432	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.39787	1.06;1.06;1.06	3.94	3.94	0.45596	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.49455	1.56	0.80722	D	1	P;D;P;D	0.65815	0.944;0.995;0.95;0.992	P;D;P;D	0.74674	0.732;0.984;0.803;0.957	T	0.56577	-0.7956	10	0.51188	T	0.08	-18.9293	12.2347	0.54508	1.0:0.0:0.0:0.0	.	20;170;59;59	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	59;59;20;170	ENSP00000270460:M59V;ENSP00000085079:M59V;ENSP00000406209:M170V	ENSP00000085079:M59V	M	+	1	0	EPN1	60881980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.943000	0.92975	1.798000	0.52647	0.459000	0.35465	ATG		0.592	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		13	50	0	0	0	1	0	13	50				
WNK1	65125	broad.mit.edu	37	12	977319	977319	+	Intron	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:977319A>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000574564.1_Silent_p.V108V|WNK1_ENST00000530271.2_Silent_p.V894V|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000537687.1_Silent_p.V809V|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGTAGAGTAACTGGAGAGT	0.478																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(2425-2427)gtA>gtG		WNK lysine deficient protein kinase 1							75.0	74.0	74.0					12																	977319		1920	4129	6049	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:977319A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3112A>G	12.37:g.977319A>G						WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.V894V|WNK1_ENST00000574564.1_Silent_p.V108V|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron	p.V809V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		9	3070	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		0					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.2427A>G	CCDS8506.1																																																																																				0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		19	37	0	0	0	1	0	19	37				
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.R252C(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)Cgc>Tgc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181.0	144.0	157.0					7																	55221710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221710C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C	p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	931	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		207	2919	0	0	0	1	0	207	2919				
TEK	7010	broad.mit.edu	37	9	27169602	27169602	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:27169602G>A	ENST00000380036.4	+	4	1045	c.603G>A	c.(601-603)tcG>tcA	p.S201S	TEK_ENST00000519097.1_Silent_p.S97S|TEK_ENST00000406359.4_Silent_p.S201S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	201					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S201S(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTTCACCTCGGCCTTCACCA	0.473																																						ENST00000380036.4																			1	Substitution - coding silent(1)	p.S201S(1)	endometrium(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(601-603)tcG>tcA		TEK tyrosine kinase, endothelial							108.0	100.0	103.0					9																	27169602		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27169602G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.603G>A	9.37:g.27169602G>A						TEK_ENST00000519097.1_Silent_p.S97S|TEK_ENST00000406359.4_Silent_p.S201S	p.S201S	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	4	1045	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	201					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.603G>A	CCDS6519.1																																																																																				0.473	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			41	20	0	0	0	1	0	41	20				
KRT34	3885	broad.mit.edu	37	17	39538446	39538446	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:39538446G>A	ENST00000394001.1	-	1	209	c.179C>T	c.(178-180)tCc>tTc	p.S60F		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	60	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGGGCCGGGAGGAGCAGCT	0.627																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(178-180)tCc>tTc		keratin 34							49.0	49.0	49.0					17																	39538446		2203	4298	6501	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538446G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.179C>T	17.37:g.39538446G>A	ENSP00000377570:p.Ser60Phe						p.S60F	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			1	209	-		Breast(137;0.000496)	60			Head.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.179C>T	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837483	0.50951	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	4.9	0.64082	.	0.097002	0.46758	D	0.000273	T	0.53190	0.1781	L	0.42245	1.32	0.35266	D	0.779982	B	0.20671	0.047	B	0.23419	0.046	T	0.62277	-0.6888	9	0.87932	D	0	.	15.8692	0.79098	0.0:0.1359:0.8641:0.0	.	60	O76011	KRT34_HUMAN	F	18;60	.	ENSP00000251648:S60F	S	-	2	0	KRT34	36791972	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.558000	0.53749	1.477000	0.48234	0.563000	0.77884	TCC		0.627	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		27	57	0	0	0	1	0	27	57				
BAG3	9531	broad.mit.edu	37	10	121429423	121429423	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:121429423G>A	ENST00000369085.3	+	2	547	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	81					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCCTGCTAGGGAAGGCCACCC	0.572																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(241-243)Gaa>Aaa		BCL2-associated athanogene 3							103.0	105.0	104.0					10																	121429423		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429423G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.241G>A	10.37:g.121429423G>A	ENSP00000358081:p.Glu81Lys						p.E81K	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	547	+		Lung NSC(174;0.109)|all_lung(145;0.142)	81					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.241G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709693	0.89018	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.79940	-0.99;-1.32	5.4	5.4	0.78164	.	0.221720	0.46442	D	0.000295	D	0.85031	0.5604	M	0.71581	2.175	0.54753	D	0.999984	P;P	0.52316	0.952;0.952	P;P	0.49477	0.612;0.612	D	0.86078	0.1542	10	0.52906	T	0.07	-15.0512	19.1934	0.93677	0.0:0.0:1.0:0.0	.	81;81	O95817;Q53GY1	BAG3_HUMAN;.	K	81;23	ENSP00000358081:E81K;ENSP00000410036:E23K	ENSP00000358081:E81K	E	+	1	0	BAG3	121419413	1.000000	0.71417	0.998000	0.56505	0.620000	0.37586	4.838000	0.62803	2.536000	0.85505	0.561000	0.74099	GAA		0.572	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		42	25	0	0	0	1	0	42	25				
C8A	731	broad.mit.edu	37	1	57347157	57347157	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:57347157C>T	ENST00000361249.3	+	5	600	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	168	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGAGTGTGTACGATGCCAGTT	0.473																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(502-504)taC>taT		complement component 8, alpha polypeptide							166.0	168.0	167.0					1																	57347157		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57347157C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.504C>T	1.37:g.57347157C>T							p.Y168Y	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			5	600	+			168			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.504C>T	CCDS606.1																																																																																				0.473	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		41	60	0	0	0	1	0	41	60				
TTN	7273	broad.mit.edu	37	2	179500730	179500730	+	Silent	SNP	G	G	A	rs559906667		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:179500730G>A	ENST00000591111.1	-	176	36869	c.36645C>T	c.(36643-36645)aaC>aaT	p.N12215N	TTN_ENST00000359218.5_Silent_p.N4916N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.N4791N|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Silent_p.N4983N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.N11288N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.N13856N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12215	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTGTTGGCGTTTTCCACAG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19059	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41566-41568)aaC>aaT		titin							120.0	123.0	122.0					2																	179500730		1981	4168	6149	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500730G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36645C>T	2.37:g.179500730G>A						TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.N12215N|TTN_ENST00000460472.2_Silent_p.N4791N|TTN_ENST00000342992.6_Silent_p.N11288N|TTN_ENST00000342175.6_Silent_p.N4983N|TTN_ENST00000359218.5_Silent_p.N4916N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA	p.N13856N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	41792	-			12215					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.41568C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	58	0	0	0	1	0	24	58				
SFRP2	6423	broad.mit.edu	37	4	154702729	154702729	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:154702729G>A	ENST00000274063.4	-	3	1046	c.762C>T	c.(760-762)aaC>aaT	p.N254N		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	254	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|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)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GATAGGGCGCGTTGATGTCGT	0.557																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(760-762)aaC>aaT		secreted frizzled-related protein 2							182.0	132.0	149.0					4																	154702729		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154702729G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.762C>T	4.37:g.154702729G>A							p.N254N	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			3	1046	-	all_hematologic(180;0.093)	Renal(120;0.117)	254			NTR.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.762C>T	CCDS34082.1																																																																																				0.557	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			27	34	0	0	0	1	0	27	34				
FAP	2191	broad.mit.edu	37	2	163030242	163030242	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:163030242C>G	ENST00000188790.4	-	23	2232	c.2025G>C	c.(2023-2025)gaG>gaC	p.E675D	FAP_ENST00000443424.1_Missense_Mutation_p.E650D|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCTTATAGTGCTCAAGATTAT	0.299																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(2023-2025)gaG>gaC		fibroblast activation protein, alpha							141.0	149.0	146.0					2																	163030242		2203	4298	6501	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163030242C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2025G>C	2.37:g.163030242C>G	ENSP00000188790:p.Glu675Asp					FAP_ENST00000443424.1_Missense_Mutation_p.E650D	p.E675D	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			23	2232	-			675						Missense_Mutation	SNP	ENST00000188790.4	37	c.2025G>C	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	1.009	-0.688434	0.03328	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.32515	1.45;1.45	5.17	0.924	0.19418	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.323996	0.31709	N	0.007189	T	0.13713	0.0332	N	0.11724	0.165	0.43103	D	0.994796	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.12630	-1.0540	10	0.15066	T	0.55	-19.5646	8.6652	0.34116	0.0:0.5188:0.0:0.4812	.	650;154;675	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	D	675;650	ENSP00000188790:E675D;ENSP00000411391:E650D	ENSP00000188790:E675D	E	-	3	2	FAP	162738488	0.997000	0.39634	0.994000	0.49952	0.730000	0.41778	0.676000	0.25247	0.402000	0.25451	0.655000	0.94253	GAG		0.299	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			59	91	0	0	0	1	0	59	91				
FRMD3	257019	broad.mit.edu	37	9	86153116	86153116	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:86153116C>T	ENST00000304195.3	-	1	237	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	FRMD3_ENST00000376438.1_Missense_Mutation_p.G11S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	11						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GTCCTCCTGCCTCTCGGCACA	0.652																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(31-33)Ggc>Agc		FERM domain containing 3							14.0	17.0	16.0					9																	86153116		1998	4170	6168	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:86153116C>T	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.31G>A	9.37:g.86153116C>T	ENSP00000303508:p.Gly11Ser					FRMD3_ENST00000376438.1_Missense_Mutation_p.G11S	p.G11S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			1	237	-			11					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.31G>A	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998733	0.54147	.	.	ENSG00000172159	ENST00000376438;ENST00000304195	D;D	0.82526	-1.62;-1.61	4.85	4.85	0.62838	.	0.200040	0.35151	N	0.003409	T	0.68641	0.3023	N	0.14661	0.345	0.29797	N	0.832718	B	0.25667	0.131	B	0.19666	0.026	T	0.65590	-0.6131	10	0.40728	T	0.16	.	11.1579	0.48499	0.0:0.9134:0.0:0.0866	.	11	A2A2Y4	FRMD3_HUMAN	S	11	ENSP00000365621:G11S;ENSP00000303508:G11S	ENSP00000303508:G11S	G	-	1	0	FRMD3	85342936	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.285000	0.58989	2.219000	0.72066	0.591000	0.81541	GGC		0.652	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		4	7	0	0	0	1	0	4	7				
GPATCH2L	55668	broad.mit.edu	37	14	76621051	76621051	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr14:76621051C>T	ENST00000261530.7	+	2	411	c.345C>T	c.(343-345)gaC>gaT	p.D115D	GPATCH2L_ENST00000556663.1_Silent_p.D115D|GPATCH2L_ENST00000557263.1_Silent_p.D115D|GPATCH2L_ENST00000312858.5_Silent_p.D115D	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	115																	ATGAATCTGACTCCTTTACTG	0.493																																						ENST00000261530.7																			0											c.(343-345)gaC>gaT		G patch domain containing 2-like							99.0	83.0	89.0					14																	76621051		2203	4300	6503	SO:0001819	synonymous_variant	55668							g.chr14:76621051C>T	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.345C>T	14.37:g.76621051C>T						GPATCH2L_ENST00000312858.5_Silent_p.D115D|GPATCH2L_ENST00000556663.1_Silent_p.D115D|GPATCH2L_ENST00000557263.1_Silent_p.D115D	p.D115D	NM_017926.2	NP_060396.2					2	411	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Silent	SNP	ENST00000261530.7	37	c.345C>T	CCDS9848.1																																																																																				0.493	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		28	36	0	0	0	1	0	28	36				
CXCR1	3577	broad.mit.edu	37	2	219029011	219029011	+	Silent	SNP	G	G	A	rs368619392		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:219029011G>A	ENST00000295683.2	-	2	1044	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	308					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	AATTTTGGCCGATGAAGGCGT	0.537																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(922-924)atC>atT		chemokine (C-X-C motif) receptor 1		G		1,4405	2.1+/-5.4	0,1,2202	96.0	94.0	95.0		924	-0.6	1.0	2		95	0,8600		0,0,4300	no	coding-synonymous	CXCR1	NM_000634.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		308/351	219029011	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029011G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.924C>T	2.37:g.219029011G>A							p.I308I	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	1044	-			308					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	c.924C>T	CCDS2409.1																																																																																				0.537	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		5	70	0	0	0	1	0	5	70				
CUX2	23316	broad.mit.edu	37	12	111758395	111758395	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:111758395C>T	ENST00000261726.6	+	17	2736	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	861					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGGCCGAGGCGGGCGCGCGG	0.746																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2581-2583)gCg>gTg		cut-like homeobox 2							3.0	4.0	4.0					12																	111758395		1411	3135	4546	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758395C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2582C>T	12.37:g.111758395C>T	ENSP00000261726:p.Ala861Val						p.A861V	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2736	+			861					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2582C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	8.850	0.944326	0.18356	.	.	ENSG00000111249	ENST00000261726	T	0.44482	0.92	4.25	0.0589	0.14330	.	1.686630	0.03375	N	0.199503	T	0.23014	0.0556	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.08911	-1.0699	10	0.27785	T	0.31	-2.5342	2.1722	0.03852	0.146:0.4032:0.2843:0.1664	.	861	O14529	CUX2_HUMAN	V	861	ENSP00000261726:A861V	ENSP00000261726:A861V	A	+	2	0	CUX2	110242778	0.001000	0.12720	0.001000	0.08648	0.160000	0.22226	0.514000	0.22786	-0.328000	0.08539	0.306000	0.20318	GCG		0.746	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		4	2	0	0	0	1	0	4	2				
OGFR	11054	broad.mit.edu	37	20	61444725	61444725	+	Silent	SNP	G	G	A	rs74520364		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:61444725G>A	ENST00000290291.6	+	7	1783	c.1758G>A	c.(1756-1758)ccG>ccA	p.P586P	OGFR_ENST00000370461.1_Silent_p.P534P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	586	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCCCCAGCCCGGCAGGACCTA	0.741																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1600-1602)ccG>ccA		opioid growth factor receptor		A		0,4046		0,0,2023	7.0	14.0	12.0		1758	-3.2	0.0	20	dbSNP_131	12	9,8325		0,9,4158	no	coding-synonymous	OGFR	NM_007346.2		0,9,6181	AA,AG,GG		0.108,0.0,0.0727		586/678	61444725	9,12371	2023	4167	6190	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444725G>A	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1758G>A	20.37:g.61444725G>A						OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.P586P	p.P534P			Q9NZT2	OGFR_HUMAN			5	3879	+	Breast(26;3.65e-08)		586			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1602G>A	CCDS13504.1																																																																																				0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			3	18	0	0	0	1	0	3	18				
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 8		C	HIS/ARG	0,4406		0,0,2203	106.0	97.0	100.0		35	-2.9	0.0	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM8	NM_001816.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/350	43098946	1,13005	2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098946C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.35G>A	19.37:g.43098946C>T	ENSP00000244336:p.Arg12His					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			1	136	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.35G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	4.281	0.051329	0.08291	0.0	1.16E-4	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.92	0.05615	.	.	.	.	.	T	0.05868	0.0153	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30621	-0.9972	9	0.33141	T	0.24	.	2.0313	0.03529	0.2556:0.3609:0.0:0.3835	.	12	P31997	CEAM8_HUMAN	H	12	ENSP00000244336:R12H	ENSP00000244336:R12H	R	-	2	0	CEACAM8	47790786	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.006000	0.00650	-0.779000	0.04560	-0.657000	0.03884	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			5	167	0	0	0	1	0	5	167				
CWC25	54883	broad.mit.edu	37	17	36959088	36959088	+	Missense_Mutation	SNP	C	C	T	rs370528083		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:36959088C>T	ENST00000225428.5	-	9	1325	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Missense_Mutation_p.R280Q	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	343										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TTGCCGTTTTCGCTCTAATTC	0.483																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1027-1029)cGa>cAa		CWC25 spliceosome-associated protein homolog (S. cerevisiae)		C	GLN/ARG	1,3931		0,1,1965	193.0	188.0	189.0		1028	4.9	1.0	17		189	0,8302		0,0,4151	no	missense	CWC25	NM_017748.3	43	0,1,6116	TT,TC,CC		0.0,0.0254,0.0082	possibly-damaging	343/426	36959088	1,12233	1966	4151	6117	SO:0001583	missense	54883							g.chr17:36959088C>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1028G>A	17.37:g.36959088C>T	ENSP00000225428:p.Arg343Gln					CWC25_ENST00000536127.1_Missense_Mutation_p.R280Q	p.R343Q	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			9	1325	-			343					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.1028G>A	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340850	0.60963	2.54E-4	0.0	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.88	4.91	0.64330	.	0.217517	0.38058	N	0.001837	T	0.60996	0.2312	L	0.56769	1.78	0.45822	D	0.998698	D;P	0.63046	0.992;0.918	P;B	0.50570	0.644;0.247	T	0.59413	-0.7459	9	0.27082	T	0.32	.	13.6678	0.62407	0.0:0.9255:0.0:0.0745	.	280;343	B4DJK2;Q9NXE8	.;CWC25_HUMAN	Q	343;280	.	ENSP00000225428:R343Q	R	-	2	0	CWC25	34212614	0.685000	0.27652	1.000000	0.80357	0.994000	0.84299	1.303000	0.33470	1.503000	0.48686	0.655000	0.94253	CGA		0.483	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		30	48	0	0	0	1	0	30	48				
RIMBP2	23504	broad.mit.edu	37	12	130927095	130927095	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:130927095A>T	ENST00000261655.4	-	8	914	c.751T>A	c.(751-753)Ttc>Atc	p.F251I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.F159I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.F159I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	251					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGTTGATGAAGTTCTGATCC	0.607																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(751-753)Ttc>Atc		RIMS binding protein 2							190.0	179.0	182.0					12																	130927095		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130927095A>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.751T>A	12.37:g.130927095A>T	ENSP00000261655:p.Phe251Ile					RIMBP2_ENST00000536002.1_Missense_Mutation_p.F159I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.F159I	p.F251I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	914	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	251					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.751T>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768018	0.31320	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19806	2.12;2.95;2.95	4.53	-6.57	0.01842	.	0.372186	0.28171	N	0.016339	T	0.11452	0.0279	L	0.42245	1.32	0.09310	N	1	B;B	0.24483	0.003;0.104	B;B	0.15870	0.004;0.014	T	0.14062	-1.0486	10	0.22109	T	0.4	-5.2433	7.9845	0.30202	0.4517:0.1187:0.4296:0.0	.	159;251	O15034-2;O15034	.;RIMB2_HUMAN	I	251;159;159;159	ENSP00000261655:F251I;ENSP00000440347:F159I;ENSP00000439159:F159I	ENSP00000261655:F251I	F	-	1	0	RIMBP2	129493048	0.065000	0.20965	0.009000	0.14445	0.906000	0.53458	-0.158000	0.10070	-1.798000	0.01250	0.459000	0.35465	TTC		0.607	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		8	82	0	0	0	1	0	8	82				
NDRG4	65009	broad.mit.edu	37	16	58545427	58545427	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:58545427G>A	ENST00000570248.1	+	15	1112	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	NDRG4_ENST00000258187.5_Missense_Mutation_p.E355K|NDRG4_ENST00000562999.1_Missense_Mutation_p.E311K|NDRG4_ENST00000356752.4_Missense_Mutation_p.E353K|NDRG4_ENST00000394282.4_Missense_Mutation_p.E375K|NDRG4_ENST00000568640.1_Missense_Mutation_p.E341K|NDRG4_ENST00000569923.1_Missense_Mutation_p.E268K|NDRG4_ENST00000563799.1_Missense_Mutation_p.E341K|NDRG4_ENST00000394279.2_Missense_Mutation_p.E355K|NDRG4_ENST00000566192.1_Missense_Mutation_p.E323K	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	336					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CACCCACTCAGAGAGCAGCGA	0.682																																						ENST00000394282.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1123-1125)Gag>Aag		NDRG family member 4							61.0	58.0	59.0					16																	58545427		2198	4297	6495	SO:0001583	missense	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58545427G>A	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.1006G>A	16.37:g.58545427G>A	ENSP00000457659:p.Glu336Lys					NDRG4_ENST00000569923.1_Missense_Mutation_p.E268K|NDRG4_ENST00000258187.5_Missense_Mutation_p.E355K|NDRG4_ENST00000394279.2_Missense_Mutation_p.E355K|NDRG4_ENST00000563799.1_Missense_Mutation_p.E341K|NDRG4_ENST00000570248.1_Missense_Mutation_p.E336K|NDRG4_ENST00000568640.1_Missense_Mutation_p.E341K|NDRG4_ENST00000562999.1_Missense_Mutation_p.E311K|NDRG4_ENST00000356752.4_Missense_Mutation_p.E353K|NDRG4_ENST00000566192.1_Missense_Mutation_p.E323K	p.E375K	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN			16	1530	+			336					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Missense_Mutation	SNP	ENST00000570248.1	37	c.1123G>A	CCDS58466.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319707	0.60524	.	.	ENSG00000103034	ENST00000258187;ENST00000421602;ENST00000394282;ENST00000394279;ENST00000356752	T;T;T;T	0.18502	2.23;2.22;2.23;2.21	5.57	5.57	0.84162	.	0.272677	0.40222	N	0.001154	T	0.13415	0.0325	L	0.29908	0.895	0.40801	D	0.983342	B;P;B;B;B;P;P	0.40731	0.143;0.568;0.033;0.447;0.012;0.728;0.59	B;B;B;B;B;B;B	0.36092	0.045;0.101;0.041;0.051;0.004;0.217;0.158	T	0.11470	-1.0586	10	0.13470	T	0.59	-35.4076	18.5463	0.91047	0.0:0.0:1.0:0.0	.	341;353;341;323;336;375;355	B4DK66;B4DSW5;Q9ULP0-5;Q9ULP0-2;Q9ULP0;Q9ULP0-6;Q9ULP0-3	.;.;.;.;NDRG4_HUMAN;.;.	K	355;281;375;355;353	ENSP00000258187:E355K;ENSP00000377823:E375K;ENSP00000377820:E355K;ENSP00000349193:E353K	ENSP00000258187:E355K	E	+	1	0	NDRG4	57102928	1.000000	0.71417	0.778000	0.31720	0.777000	0.43975	6.234000	0.72326	2.614000	0.88457	0.655000	0.94253	GAG		0.682	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2			26	42	0	0	0	1	0	26	42				
CRB1	23418	broad.mit.edu	37	1	197313560	197313560	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:197313560A>C	ENST00000367400.3	+	3	937	c.802A>C	c.(802-804)Agt>Cgt	p.S268R	CRB1_ENST00000535699.1_Missense_Mutation_p.S199R|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.S268R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	268	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAGTGTGCCAGTCAACCTTG	0.512																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(802-804)Agt>Cgt		crumbs homolog 1 (Drosophila)							240.0	212.0	221.0					1																	197313560		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197313560A>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.802A>C	1.37:g.197313560A>C	ENSP00000356370:p.Ser268Arg					CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.S199R|CRB1_ENST00000538660.1_Missense_Mutation_p.S268R	p.S268R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			3	937	+			268			EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.802A>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	9.627	1.135495	0.21123	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	D;D;D	0.87571	-2.27;-2.27;-2.27	5.25	5.25	0.73442	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.92909	0.7744	M	0.78049	2.395	0.80722	D	1	B;B;B;D	0.76494	0.126;0.029;0.061;0.999	B;B;B;D	0.75484	0.015;0.032;0.024;0.986	D	0.92765	0.6227	9	0.42905	T	0.14	.	15.1385	0.72590	1.0:0.0:0.0:0.0	.	268;199;268;293	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	R	199;268;268	ENSP00000438786:S199R;ENSP00000438091:S268R;ENSP00000356370:S268R	ENSP00000356370:S268R	S	+	1	0	CRB1	195580183	0.999000	0.42202	0.954000	0.39281	0.062000	0.15995	3.800000	0.55537	1.969000	0.57287	0.528000	0.53228	AGT		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		52	101	0	0	0	1	0	52	101				
BPHL	670	broad.mit.edu	37	6	3140630	3140630	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:3140630C>T	ENST00000380379.5	+	6	724	c.675C>T	c.(673-675)tgC>tgT	p.C225C	BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000380375.3_Silent_p.C208C|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000434640.1_Silent_p.C208C	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	225					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTAACATCTGCCGGCACCTGC	0.587																																						ENST00000380375.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(622-624)tgC>tgT		biphenyl hydrolase-like (serine hydrolase)							125.0	114.0	118.0					6																	3140630		2203	4300	6503	SO:0001819	synonymous_variant	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3140630C>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.675C>T	6.37:g.3140630C>T						BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000434640.1_Silent_p.C208C|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380379.5_Silent_p.C225C	p.C208C			Q86WA6	BPHL_HUMAN			7	1268	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	225					Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	c.624C>T	CCDS4483.2																																																																																				0.587	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			51	97	0	0	0	1	0	51	97				
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	T	rs528776718		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:47846506C>T	ENST00000339488.4	-	3	2107	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	692						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19903	0.0		0.001	False		,,,				2504	0.0					ENST00000339488.4																			3	Substitution - Missense(3)	p.V692L(2)|p.V692I(1)	lung(3)								c.(2074-2076)Gtc>Atc		patched domain containing 4							84.0	81.0	82.0					6																	47846506		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846506C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2074G>A	6.37:g.47846506C>T	ENSP00000341914:p.Val692Ile						p.V692I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2107	-			692					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2074G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.424140	0.43020	.	.	ENSG00000244694	ENST00000339488	D	0.82711	-1.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	L	0.38175	1.15	0.80722	D	1	P	0.46277	0.875	P	0.50490	0.642	T	0.72855	-0.4166	10	0.06625	T	0.88	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	692	Q6ZW05	CF138_HUMAN	I	692	ENSP00000341914:V692I	ENSP00000341914:V692I	V	-	1	0	C6orf138	47954465	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.686000	0.61700	2.814000	0.96858	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		10	9	0	0	0	1	0	10	9				
LPA	4018	broad.mit.edu	37	6	161015068	161015068	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:161015068A>G	ENST00000316300.5	-	22	3595	c.3551T>C	c.(3550-3552)gTc>gCc	p.V1184A	LPA_ENST00000447678.1_Missense_Mutation_p.V1184A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3692	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTTCCTGTGACAGTGGTAGA	0.478																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3550-3552)gTc>gCc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						156.0	157.0	157.0					6																	161015068		2078	4250	6328	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161015068A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3551T>C	6.37:g.161015068A>G	ENSP00000321334:p.Val1184Ala					LPA_ENST00000316300.5_Missense_Mutation_p.V1184A	p.V1184A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	23	3671	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3692			Kringle 11.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3551T>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	4.479	0.088860	0.08583	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65732	-0.17;-0.17	2.56	-0.599	0.11645	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.43456	0.1248	L	0.39147	1.195	0.09310	N	1	P	0.45044	0.849	D	0.68943	0.961	T	0.41161	-0.9524	9	0.07813	T	0.8	.	4.8832	0.13690	0.4962:0.0:0.0:0.5038	.	3692	P08519	APOA_HUMAN	A	1184	ENSP00000321334:V1184A;ENSP00000395608:V1184A	ENSP00000321334:V1184A	V	-	2	0	LPA	160935058	0.890000	0.30428	0.006000	0.13384	0.193000	0.23685	1.661000	0.37408	0.175000	0.19841	0.358000	0.22013	GTC		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		4	100	0	0	0	1	0	4	100				
SLC17A7	57030	broad.mit.edu	37	19	49934335	49934335	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:49934335G>A	ENST00000221485.3	-	11	1497	c.1326C>T	c.(1324-1326)aaC>aaT	p.N442N	SLC17A7_ENST00000600601.1_Silent_p.N375N|SLC17A7_ENST00000543531.1_Silent_p.N430N	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	442					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCACGCCGTTGGAGATGC	0.622																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1324-1326)aaC>aaT		solute carrier family 17 (vesicular glutamate transporter), member 7							89.0	72.0	78.0					19																	49934335		2203	4300	6503	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49934335G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1326C>T	19.37:g.49934335G>A						SLC17A7_ENST00000600601.1_Silent_p.N375N|SLC17A7_ENST00000543531.1_Silent_p.N430N	p.N442N	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	11	1497	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	442					B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1326C>T	CCDS12764.1																																																																																				0.622	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			8	29	0	0	0	1	0	8	29				
OTOF	9381	broad.mit.edu	37	2	26700046	26700046	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:26700046C>T	ENST00000272371.2	-	21	2643	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	OTOF_ENST00000403946.3_Silent_p.A839A|OTOF_ENST00000338581.6_Silent_p.A92A|OTOF_ENST00000402415.3_Silent_p.A149A|OTOF_ENST00000339598.3_Silent_p.A92A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	839					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCTCGTCCGCCAGGAAGC	0.677																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(2515-2517)gcG>gcA		otoferlin							23.0	27.0	26.0					2																	26700046		2183	4291	6474	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26700046C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2517G>A	2.37:g.26700046C>T						OTOF_ENST00000402415.3_Silent_p.A149A|OTOF_ENST00000338581.6_Silent_p.A92A|OTOF_ENST00000403946.3_Silent_p.A839A|OTOF_ENST00000339598.3_Silent_p.A92A	p.A839A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			21	2643	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		839					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.2517G>A	CCDS1725.1																																																																																				0.677	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	5	0	0	0	1	0	8	5				
EDEM2	55741	broad.mit.edu	37	20	33703560	33703560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:33703560G>T	ENST00000374492.3	-	11	1518	c.1413C>A	c.(1411-1413)taC>taA	p.Y471*	EDEM2_ENST00000541621.1_Nonsense_Mutation_p.Y250*|EDEM2_ENST00000542871.1_Nonsense_Mutation_p.Y195*|SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000374491.3_Nonsense_Mutation_p.Y434*	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	471					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGTTGAAGATGTACCCCCCAG	0.587																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000374492.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1411-1413)taC>taA		ER degradation enhancer, mannosidase alpha-like 2							73.0	65.0	67.0					20																	33703560		2203	4300	6503	SO:0001587	stop_gained	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33703560G>T	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1413C>A	20.37:g.33703560G>T	ENSP00000363616:p.Tyr471*					EDEM2_ENST00000541621.1_Nonsense_Mutation_p.Y250*|EDEM2_ENST00000542871.1_Nonsense_Mutation_p.Y195*|EDEM2_ENST00000374491.2_Nonsense_Mutation_p.Y434*	p.Y471*	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1518	-			471					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Nonsense_Mutation	SNP	ENST00000374492.3	37	c.1413C>A	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614278	0.87359	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871	.	.	.	5.51	1.26	0.21427	.	0.108387	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.45	11.5259	0.50580	0.2675:0.0:0.7325:0.0	.	.	.	.	X	434;471;250;195	.	ENSP00000363615:Y434X	Y	-	3	2	EDEM2	33167221	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.024000	0.41049	0.464000	0.27142	0.561000	0.74099	TAC		0.587	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		22	66	1	0	4.35082e-09	1	4.55476e-09	22	66				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	62	0	0	0	1	0	4	62				
MATN4	8785	broad.mit.edu	37	20	43926951	43926951	+	Missense_Mutation	SNP	G	G	A	rs372468063		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:43926951G>A	ENST00000372754.1	-	7	1416	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	MATN4_ENST00000372756.1_Missense_Mutation_p.R429W|MATN4_ENST00000342716.4_Missense_Mutation_p.R429W|MATN4_ENST00000353917.5_Missense_Mutation_p.R347W|MATN4_ENST00000537548.1_Missense_Mutation_p.R429W|MATN4_ENST00000372751.4_Missense_Mutation_p.R280W|MATN4_ENST00000360607.6_Missense_Mutation_p.R388W			O95460	MATN4_HUMAN	matrilin 4	470	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACCATGTGCCGCAACGCCAGC	0.672																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1285-1287)Cgg>Tgg		matrilin 4		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	55.0	58.0		1285,1162,1039	5.5	1.0	20		58	0,8598		0,0,4299	no	missense,missense,missense	MATN4	NM_003833.3,NM_030590.2,NM_030592.2	101,101,101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	429/582,388/541,347/500	43926951	1,13003	2203	4299	6502	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43926951G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1408C>T	20.37:g.43926951G>A	ENSP00000361840:p.Arg470Trp					MATN4_ENST00000342716.4_Missense_Mutation_p.R429W|MATN4_ENST00000353917.5_Missense_Mutation_p.R347W|MATN4_ENST00000372753.1_Missense_Mutation_p.R280W|MATN4_ENST00000360607.5_Missense_Mutation_p.R388W|MATN4_ENST00000372756.1_Missense_Mutation_p.R429W|MATN4_ENST00000372751.4_Missense_Mutation_p.R280W|MATN4_ENST00000372754.1_Missense_Mutation_p.R470W	p.R429W			O95460	MATN4_HUMAN			8	1529	-		Myeloproliferative disorder(115;0.0122)	470			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1285C>T		.	.	.	.	.	.	.	.	.	.	G	19.79	3.893524	0.72639	2.27E-4	0.0	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.46	5.46	0.80206	.	0.000000	0.43747	D	0.000526	D	0.91043	0.7182	M	0.84846	2.72	0.38911	D	0.957523	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.951;0.963	D	0.92645	0.6128	10	0.87932	D	0	.	12.0662	0.53590	0.0:0.0:0.7273:0.2727	.	347;388;429	A6NNA4;O95460-4;O95460-2	.;.;.	W	280;470;429;347;388;429;429;470;280	ENSP00000361839:R280W;ENSP00000361840:R470W;ENSP00000361842:R429W;ENSP00000243983:R347W;ENSP00000353819:R388W;ENSP00000343164:R429W;ENSP00000440328:R429W;ENSP00000361837:R280W	ENSP00000255132:R470W	R	-	1	2	MATN4	43360365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.896000	0.56266	2.559000	0.86315	0.644000	0.83932	CGG		0.672	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			21	28	0	0	0	1	0	21	28				
FGA	2243	broad.mit.edu	37	4	155505468	155505468	+	Silent	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:155505468A>G	ENST00000302053.3	-	6	2487	c.2409T>C	c.(2407-2409)taT>taC	p.Y803Y		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	803	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCTCCCCCATAGACTTCTG	0.507																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2407-2409)taT>taC		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						126.0	119.0	121.0					4																	155505468		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505468A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2409T>C	4.37:g.155505468A>G							p.Y803Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2487	-	all_hematologic(180;0.215)	Renal(120;0.0458)	803			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.2409T>C	CCDS3787.1																																																																																				0.507	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		37	64	0	0	0	1	0	37	64				
CRHR2	1395	broad.mit.edu	37	7	30721825	30721825	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:30721825C>A	ENST00000471646.1	-	1	489	c.72G>T	c.(70-72)ttG>ttT	p.L24F	CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000348438.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.L24F	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	24					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGCCGTCCAAGAGCAGCT	0.736																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(70-72)ttG>ttT		corticotropin releasing hormone receptor 2							9.0	12.0	11.0					7																	30721825		2179	4283	6462	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30721825C>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.72G>T	7.37:g.30721825C>A	ENSP00000418722:p.Leu24Phe					CRHR2_ENST00000506074.2_Missense_Mutation_p.L24F|CRHR2_ENST00000348438.4_Intron|CRHR2_ENST00000341843.4_Intron	p.L24F	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			1	489	-			24					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.72G>T	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343014	0.24339	.	.	ENSG00000106113	ENST00000471646;ENST00000506074	T;T	0.46063	0.88;1.0	4.45	2.57	0.30868	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.23120	N	0.99827	B;B;B	0.13594	0.002;0.008;0.002	B;B;B	0.11329	0.003;0.006;0.003	T	0.25537	-1.0129	9	0.12430	T	0.62	.	4.7329	0.12974	0.2464:0.6445:0.0:0.1091	.	24;24;24	B3SXT0;B3SXS6;Q13324	.;.;CRFR2_HUMAN	F	24	ENSP00000418722:L24F;ENSP00000426498:L24F	ENSP00000418722:L24F	L	-	3	2	CRHR2	30688350	0.289000	0.24334	0.904000	0.35570	0.755000	0.42902	0.499000	0.22546	1.156000	0.42514	0.563000	0.77884	TTG		0.736	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			6	17	1	0	0.00198382	1	0.00204486	6	17				
DNAH17	8632	broad.mit.edu	37	17	76503840	76503840	+	Silent	SNP	G	G	A	rs375092080	byFrequency	TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:76503840G>A	ENST00000585328.1	-	28	4399	c.4275C>T	c.(4273-4275)caC>caT	p.H1425H	DNAH17_ENST00000389840.5_Silent_p.H1424H	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1424	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H1425H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTGCGGCTCGTGCTGGAATT	0.552													G|||	3	0.000599042	0.0008	0.0029	5008	,	,		19049	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			1	Substitution - coding silent(1)	p.H1425H(1)	lung(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4270-4272)caC>caT		dynein, axonemal, heavy chain 17		G		10,4004		0,10,1997	20.0	21.0	21.0		4284	-0.1	1.0	17		21	1,8371		0,1,4185	no	coding-synonymous	DNAH17	NM_173628.3		0,11,6182	AA,AG,GG		0.0119,0.2491,0.0888		1428/4463	76503840	11,12375	2007	4186	6193	SO:0001819	synonymous_variant	8632							g.chr17:76503840G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4275C>T	17.37:g.76503840G>A						DNAH17_ENST00000585328.1_Silent_p.H1425H	p.H1424H					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		28	4396	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.4272C>T																																																																																					0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	5	0	0	0	1	0	5	5				
DHX29	54505	broad.mit.edu	37	5	54586064	54586064	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:54586064T>C	ENST00000251636.5	-	7	1037	c.889A>G	c.(889-891)Ata>Gta	p.I297V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	297						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATTTCCTTATTTTTTCCTGA	0.358																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(889-891)Ata>Gta		DEAH (Asp-Glu-Ala-His) box polypeptide 29							130.0	129.0	129.0					5																	54586064		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54586064T>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.889A>G	5.37:g.54586064T>C	ENSP00000251636:p.Ile297Val					RP11-506H20.1_ENST00000506435.1_RNA	p.I297V	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			7	1037	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	297					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.889A>G	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000833	0.74818	.	.	ENSG00000067248	ENST00000251636	T	0.53640	0.61	5.41	5.41	0.78517	.	0.080704	0.85682	N	0.000000	T	0.63616	0.2526	M	0.63843	1.955	0.46542	D	0.999092	D	0.59357	0.985	D	0.67548	0.952	T	0.61884	-0.6971	10	0.35671	T	0.21	.	14.2929	0.66292	0.0:0.0:0.0:1.0	.	297	Q7Z478	DHX29_HUMAN	V	297	ENSP00000251636:I297V	ENSP00000251636:I297V	I	-	1	0	DHX29	54621821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.309000	0.65774	2.171000	0.68590	0.528000	0.53228	ATA		0.358	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		26	32	0	0	0	1	0	26	32				
YBX2	51087	broad.mit.edu	37	17	7192121	7192121	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:7192121T>G	ENST00000007699.5	-	8	1144	c.1081A>C	c.(1081-1083)Acc>Ccc	p.T361P	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	361	Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCCAGGATGGTGGTGGTGGGG	0.542																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(1081-1083)Acc>Ccc		Y box binding protein 2							144.0	126.0	132.0					17																	7192121		2203	4300	6503	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7192121T>G	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.1081A>C	17.37:g.7192121T>G	ENSP00000007699:p.Thr361Pro						p.T361P	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			8	1144	-			361			Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.1081A>C	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.155412	0.38021	.	.	ENSG00000006047	ENST00000007699	T	0.25414	1.8	5.73	3.51	0.40186	.	0.188736	0.44483	D	0.000456	T	0.16128	0.0388	N	0.22421	0.69	0.28091	N	0.931813	P	0.50528	0.936	B	0.41894	0.369	T	0.08166	-1.0735	10	0.87932	D	0	-1.0717	7.024	0.24930	0.0:0.1747:0.0:0.8253	.	361	Q9Y2T7	YBOX2_HUMAN	P	361	ENSP00000007699:T361P	ENSP00000007699:T361P	T	-	1	0	YBX2	7132845	1.000000	0.71417	0.918000	0.36340	0.660000	0.38997	1.460000	0.35244	1.107000	0.41642	0.533000	0.62120	ACC		0.542	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		4	42	0	0	0	1	0	4	42				
KRT5	3852	broad.mit.edu	37	12	52910609	52910609	+	Silent	SNP	G	G	A	rs553666316		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:52910609G>A	ENST00000252242.4	-	7	1641	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	417	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCTGCTCGGCATCCGCAA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		21053	0.0		0.001	False		,,,				2504	0.0					ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1249-1251)gcC>gcT		keratin 5							72.0	66.0	68.0					12																	52910609		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910609G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1251C>T	12.37:g.52910609G>A							p.A417A	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1641	-			417			Coil 2.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.1251C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	3.318	-0.139285	0.06669	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.2438	0.04026	0.2139:0.0891:0.3477:0.3494	.	.	.	.	X	125	.	.	R	-	1	2	KRT5	51196876	0.000000	0.05858	0.119000	0.21687	0.311000	0.27955	-4.636000	0.00205	-2.388000	0.00588	-1.808000	0.00615	CGA		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			37	57	0	0	0	1	0	37	57				
SULT1E1	6783	broad.mit.edu	37	4	70709895	70709895	+	Silent	SNP	C	C	T	rs376968582		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	TCATGAAGGGCGACAATTTCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		18143	0.0		0.0	False		,,,				2504	0.001					ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(754-756)tcG>tcA		sulfotransferase family 1E, estrogen-preferring, member 1		C		0,4406		0,0,2203	265.0	233.0	244.0		756	-7.9	0.1	4		244	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SULT1E1	NM_005420.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		252/295	70709895	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70709895C>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.756G>A	4.37:g.70709895C>T							p.S252S	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			7	868	-			252					Q8N6X5	Silent	SNP	ENST00000226444.3	37	c.756G>A	CCDS3531.1																																																																																				0.393	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		50	77	0	0	0	1	0	50	77				
CCAR1	55749	broad.mit.edu	37	10	70509372	70509372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:70509372C>T	ENST00000265872.6	+	10	1167	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R335*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R335*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	350	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGCGAGAGCGATCACCTCG	0.463																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1048-1050)Cga>Tga		cell division cycle and apoptosis regulator 1							180.0	176.0	177.0					10																	70509372		2203	4300	6503	SO:0001587	stop_gained	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509372C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1048C>T	10.37:g.70509372C>T	ENSP00000265872:p.Arg350*					CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R335*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R335*	p.R350*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			10	1167	+			350			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	ENST00000265872.6	37	c.1048C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071156	0.55646	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	.	.	.	5.41	-3.66	0.04489	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.544	20.1953	0.98241	0.7542:0.2458:0.0:0.0	.	.	.	.	X	350;335;335;335;324;155	.	ENSP00000265872:R350X	R	+	1	2	CCAR1	70179378	0.010000	0.17322	0.076000	0.20297	0.052000	0.14988	-0.138000	0.10374	-0.484000	0.06763	-0.706000	0.03657	CGA		0.463	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		39	28	0	0	0	1	0	39	28				
AGBL1	123624	broad.mit.edu	37	15	86940658	86940658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:86940658G>A	ENST00000441037.2	+	17	2393	c.2298G>A	c.(2296-2298)tgG>tgA	p.W766*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W497*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W766*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	766					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCAGTTGGGTGATGAAGG	0.473																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2296-2298)tgG>tgA		ATP/GTP binding protein-like 1							136.0	132.0	133.0					15																	86940658		1986	4164	6150	SO:0001587	stop_gained	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86940658G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2298G>A	15.37:g.86940658G>A	ENSP00000413001:p.Trp766*					AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W766*|AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W497*	p.W766*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			17	2393	+			766					A1A4X5|A6NJH6|C9JHL5	Nonsense_Mutation	SNP	ENST00000441037.2	37	c.2298G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	39	7.698534	0.98441	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4502	18.7311	0.91735	0.0:0.0:1.0:0.0	.	.	.	.	X	795;766;497	.	ENSP00000373949:W497X	W	+	3	0	AGBL1	84741662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.689000	0.98673	2.733000	0.93635	0.655000	0.94253	TGG		0.473	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		21	30	0	0	0	1	0	21	30				
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473																																						ENST00000374700.2																			1	Substitution - Missense(1)	p.A507V(1)	lung(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1519-1521)gCg>gTg		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						94.0	91.0	92.0					2																	201478598		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478598C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1520C>T	2.37:g.201478598C>T	ENSP00000363832:p.Ala507Val					AOX1_ENST00000485106.1_3'UTR	p.A507V	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			15	1761	+			507					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1520C>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675041	0.67928	.	.	ENSG00000138356	ENST00000374700	T	0.22945	1.93	5.33	5.33	0.75918	CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.45744	1.44	0.80722	D	1	P	0.37708	0.606	B	0.43155	0.41	T	0.03212	-1.1060	10	0.49607	T	0.09	-45.5491	19.2079	0.93742	0.0:1.0:0.0:0.0	.	507	Q06278	ADO_HUMAN	V	507	ENSP00000363832:A507V	ENSP00000363832:A507V	A	+	2	0	AOX1	201186843	0.999000	0.42202	0.681000	0.30009	0.039000	0.13416	4.275000	0.58927	2.768000	0.95171	0.655000	0.94253	GCG		0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		28	36	0	0	0	1	0	28	36				
PRPF19	27339	broad.mit.edu	37	11	60658695	60658695	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542																																						ENST00000227524.4																			1	Substitution - coding silent(1)	p.H486H(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(1456-1458)caC>caT		pre-mRNA processing factor 19							82.0	69.0	73.0					11																	60658695		2203	4299	6502	SO:0001819	synonymous_variant	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60658695G>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1458C>T	11.37:g.60658695G>A							p.H486H	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			16	1663	-			486						Silent	SNP	ENST00000227524.4	37	c.1458C>T	CCDS7995.1																																																																																				0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		14	23	0	0	0	1	0	14	23				
FAM167B	84734	broad.mit.edu	37	1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637																																						ENST00000373582.3																			1	Substitution - Missense(1)	p.R56H(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(166-168)cGc>cAc		family with sequence similarity 167, member B							35.0	45.0	42.0					1																	32713189		1949	4132	6081	SO:0001583	missense	84734							g.chr1:32713189G>A	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.167G>A	1.37:g.32713189G>A	ENSP00000362684:p.Arg56His						p.R56H	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	356	+			56					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.167G>A	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	9.421	1.083135	0.20309	.	.	ENSG00000183615	ENST00000373582	T	0.62639	0.01	5.32	-5.07	0.02938	.	1.202870	0.06305	U	0.701525	T	0.38480	0.1042	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.26408	T	0.33	-3.3016	8.7233	0.34454	0.5466:0.0:0.3569:0.0965	.	56	Q9BTA0	F167B_HUMAN	H	56	ENSP00000362684:R56H	ENSP00000362684:R56H	R	+	2	0	FAM167B	32485776	0.000000	0.05858	0.005000	0.12908	0.713000	0.41058	-0.761000	0.04751	-0.931000	0.03746	-0.258000	0.10820	CGC		0.637	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		17	24	0	0	0	1	0	17	24				
PLEKHG4	25894	broad.mit.edu	37	16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:67318812C>T	ENST00000360461.5	+	12	4424	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	630							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1888-1890)gCg>gTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							17.0	17.0	17.0					16																	67318812		2195	4294	6489	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318812C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1889C>T	16.37:g.67318812C>T	ENSP00000353646:p.Ala630Val					PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V	p.A630V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	4424	+			630					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1889C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595481	0.28445	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.09911	2.93;2.93;2.93;2.96	4.34	3.37	0.38596	.	.	.	.	.	T	0.14056	0.0340	L	0.32530	0.975	0.19300	N	0.999973	D;B	0.64830	0.994;0.079	P;B	0.53760	0.734;0.004	T	0.14896	-1.0456	9	0.22109	T	0.4	.	11.2184	0.48840	0.0:0.9058:0.0:0.0942	.	549;630	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	V	630;630;630;549	ENSP00000353646:A630V;ENSP00000401118:A630V;ENSP00000368649:A630V;ENSP00000398030:A549V	ENSP00000353646:A630V	A	+	2	0	PLEKHG4	65876313	0.180000	0.23148	0.590000	0.28732	0.427000	0.31564	1.285000	0.33261	1.965000	0.57142	0.591000	0.81541	GCG		0.662	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		12	26	0	0	0	1	0	12	26				
SERPINB2	5055	broad.mit.edu	37	18	61558848	61558848	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr18:61558848T>A	ENST00000299502.4	+	2	248		c.e2+2		SERPINB2_ENST00000457692.1_Splice_Site	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2						blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	ATGGCCAAGGTGAGTTTGAGC	0.522																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.e3+2		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						42.0	39.0	40.0					18																	61558848		2203	4300	6503	SO:0001630	splice_region_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61558848T>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.168+2T>A	18.37:g.61558848T>A						SERPINB2_ENST00000299502.4_Splice_Site		NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			3	501	+		Esophageal squamous(42;0.131)						Q96E96	Splice_Site	SNP	ENST00000299502.4	37		CCDS11989.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646540	0.67358	.	.	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	.	.	.	5.07	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2637	0.26217	0.0:0.0976:0.0:0.9024	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINB2	59709828	1.000000	0.71417	0.942000	0.38095	0.993000	0.82548	3.493000	0.53266	0.962000	0.38057	0.528000	0.53228	.		0.522	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	Intron	14	26	0	0	0	1	0	14	26				
HMCN1	83872	broad.mit.edu	37	1	185985120	185985120	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:185985120C>T	ENST00000271588.4	+	32	5169	c.4940C>T	c.(4939-4941)aCg>aTg	p.T1647M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1647M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1647	Ig-like C2-type 14.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTTGGCCACGCCTTTGAAT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4939-4941)aCg>aTg		hemicentin 1							87.0	80.0	83.0					1																	185985120		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185985120C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4940C>T	1.37:g.185985120C>T	ENSP00000271588:p.Thr1647Met					HMCN1_ENST00000367492.2_Missense_Mutation_p.T1647M	p.T1647M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			32	5169	+			1647			Ig-like C2-type 14.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4940C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	c	3.979	-0.006730	0.07773	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65549	-0.16;-0.16	5.87	-3.4	0.04853	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.791132	0.12579	N	0.456564	T	0.46268	0.1384	L	0.39898	1.24	0.09310	N	1	B	0.20261	0.043	B	0.18263	0.021	T	0.24119	-1.0169	10	0.46703	T	0.11	.	7.175	0.25738	0.1696:0.605:0.0836:0.1419	.	1647	Q96RW7	HMCN1_HUMAN	M	1647	ENSP00000271588:T1647M;ENSP00000356462:T1647M	ENSP00000271588:T1647M	T	+	2	0	HMCN1	184251743	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.114000	0.10757	-1.178000	0.02741	-1.976000	0.00459	ACG		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		20	45	0	0	0	1	0	20	45				
CCDC8	83987	broad.mit.edu	37	19	46915004	46915004	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:46915004G>A	ENST00000307522.3	-	1	1837	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	355					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTATCTGCAGCCTCTGCCCC	0.617																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1063-1065)gCt>gTt		coiled-coil domain containing 8							105.0	110.0	108.0					19																	46915004		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915004G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1064C>T	19.37:g.46915004G>A	ENSP00000303158:p.Ala355Val						p.A355V	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1837	-			355					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1064C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	9.957	1.221682	0.22457	.	.	ENSG00000169515	ENST00000307522	T	0.15834	2.39	3.22	-3.47	0.04753	.	0.277746	0.19178	N	0.120778	T	0.15435	0.0372	M	0.74881	2.28	0.09310	N	0.999998	B	0.12013	0.005	B	0.09377	0.004	T	0.20009	-1.0288	10	0.59425	D	0.04	-1.3211	5.2703	0.15620	0.4771:0.1491:0.3738:0.0	.	355	Q9H0W5	CCDC8_HUMAN	V	355	ENSP00000303158:A355V	ENSP00000303158:A355V	A	-	2	0	CCDC8	51606844	0.000000	0.05858	0.057000	0.19452	0.008000	0.06430	-1.198000	0.03035	-0.561000	0.06094	-0.802000	0.03209	GCT		0.617	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		51	150	0	0	0	1	0	51	150				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	133	0	0	0	1	0	4	133				
CCDC39	339829	broad.mit.edu	37	3	180359940	180359940	+	Missense_Mutation	SNP	C	C	T	rs540660862		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:180359940C>T	ENST00000442201.2	-	13	1834	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	CCDC39_ENST00000273654.4_Missense_Mutation_p.R656Q	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	572					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCATTTCTCGAGTACGCTT	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		17145	0.0		0.0	False		,,,				2504	0.001					ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1966-1968)cGa>cAa		coiled-coil domain containing 39							113.0	98.0	103.0					3																	180359940		1830	4086	5916	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359940C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1715G>A	3.37:g.180359940C>T	ENSP00000405708:p.Arg572Gln					CCDC39_ENST00000442201.2_Missense_Mutation_p.R572Q	p.R656Q			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		19	2586	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		572					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1967G>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420370	0.83559	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.23348	1.91;1.91	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.75447	2.3	0.43467	D	0.995673	D	0.71674	0.998	P	0.56278	0.795	T	0.37454	-0.9705	10	0.33940	T	0.23	-8.8666	18.4436	0.90676	0.0:1.0:0.0:0.0	.	572	Q9UFE4	CCD39_HUMAN	Q	656;572	ENSP00000273654:R656Q;ENSP00000405708:R572Q	ENSP00000273654:R656Q	R	-	2	0	CCDC39	181842634	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.555000	0.45854	2.514000	0.84764	0.579000	0.79373	CGA		0.323	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		16	25	0	0	0	1	0	16	25				
PTPN13	5783	broad.mit.edu	37	4	87696751	87696751	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:87696751A>T	ENST00000411767.2	+	35	5900	c.5837A>T	c.(5836-5838)gAa>gTa	p.E1946V	PTPN13_ENST00000436978.1_Missense_Mutation_p.E1951V|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1951V|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1755V|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1927V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1946	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACCTTGGAGGAAGTTAACAGA	0.418																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5851-5853)gAa>gTa		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							77.0	77.0	77.0					4																	87696751		2165	4279	6444	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87696751A>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5837A>T	4.37:g.87696751A>T	ENSP00000407249:p.Glu1946Val					PTPN13_ENST00000511467.1_Missense_Mutation_p.E1951V|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1946V|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1927V|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1755V	p.E1951V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	35	6332	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1946			PDZ 5.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5852A>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520353	0.44866	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.21	4.0	0.46444	PDZ/DHR/GLGF (4);	0.138692	0.32093	N	0.006588	T	0.54062	0.1835	M	0.84082	2.675	0.53005	D	0.999962	P;P;P;P	0.52842	0.956;0.8;0.933;0.8	P;P;P;P	0.54210	0.564;0.628;0.745;0.628	T	0.60601	-0.7231	10	0.87932	D	0	.	12.1793	0.54204	0.8569:0.1431:0.0:0.0	.	1755;1927;1946;1951	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	V	1927;1951;1755;1946;1951;1895	ENSP00000408368:E1927V;ENSP00000394794:E1951V;ENSP00000322675:E1755V;ENSP00000407249:E1946V;ENSP00000426626:E1951V	ENSP00000322675:E1755V	E	+	2	0	PTPN13	87915775	1.000000	0.71417	0.991000	0.47740	0.534000	0.34807	6.638000	0.74309	0.799000	0.34018	0.377000	0.23210	GAA		0.418	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			15	19	0	0	0	1	0	15	19				
KCNH6	81033	broad.mit.edu	37	17	61613107	61613107	+	Silent	SNP	C	C	T	rs571357504		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:61613107C>T	ENST00000583023.1	+	6	1190	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	KCNH6_ENST00000580652.1_Silent_p.Y393Y|KCNH6_ENST00000314672.5_Silent_p.Y393Y|KCNH6_ENST00000456941.2_Silent_p.Y393Y|KCNH6_ENST00000581784.1_Silent_p.Y393Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	393					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGACCGCTACTCTGAGTATG	0.607																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1177-1179)taC>taT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						82.0	72.0	76.0					17																	61613107		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613107C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1179C>T	17.37:g.61613107C>T						KCNH6_ENST00000580652.1_Silent_p.Y393Y|KCNH6_ENST00000581784.1_Silent_p.Y393Y|KCNH6_ENST00000456941.2_Silent_p.Y393Y|KCNH6_ENST00000314672.5_Silent_p.Y393Y	p.Y393Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1190	+			393					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1179C>T	CCDS11638.1																																																																																				0.607	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		28	42	0	0	0	1	0	28	42				
PRDM9	56979	broad.mit.edu	37	5	23522420	23522420	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:23522420G>A	ENST00000296682.3	+	7	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	172					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(514-516)agG>agA		PR domain containing 9							133.0	136.0	135.0					5																	23522420		1892	4135	6027	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522420G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.516G>A	5.37:g.23522420G>A		HNSCC(3;0.000094)					p.R172R	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			7	698	+			172					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.516G>A	CCDS43307.1																																																																																				0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		38	67	0	0	0	1	0	38	67				
EPHB2	2048	broad.mit.edu	37	1	23110996	23110996	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:23110996C>T	ENST00000400191.3	+	3	256	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	EPHB2_ENST00000374632.3_Missense_Mutation_p.R80C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R74C|EPHB2_ENST00000544305.1_Missense_Mutation_p.R80C|EPHB2_ENST00000374630.3_Missense_Mutation_p.R80C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	80	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTATCCGGCGCCGTGGCGC	0.577																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(238-240)Cgc>Tgc		EPH receptor B2							61.0	56.0	58.0					1																	23110996		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110996C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.238C>T	1.37:g.23110996C>T	ENSP00000383053:p.Arg80Cys					EPHB2_ENST00000374630.3_Missense_Mutation_p.R80C|EPHB2_ENST00000544305.1_Missense_Mutation_p.R80C|EPHB2_ENST00000374632.3_Missense_Mutation_p.R80C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R74C	p.R80C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	256	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	80					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.238C>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.082646	0.76528	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	5.29	4.32	0.51571	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.93197	3.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.988	T	0.03773	-1.1005	10	0.87932	D	0	.	10.7668	0.46299	0.3087:0.6913:0.0:0.0	.	80;80;98;80	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	C	80;80;80;80;80;74	ENSP00000444174:R80C;ENSP00000363761:R80C;ENSP00000383053:R80C;ENSP00000363763:R80C;ENSP00000363758:R74C	ENSP00000363755:R80C	R	+	1	0	EPHB2	22983583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.403000	0.44530	2.762000	0.94881	0.484000	0.47621	CGC		0.577	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		16	18	0	0	0	1	0	16	18				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	26	0	0	0	1	0	3	26				
FBXO31	79791	broad.mit.edu	37	16	87377354	87377354	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:87377354G>A	ENST00000311635.7	-	4	519	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	169					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCACCCGATGATGAACAGGC	0.617																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(505-507)atC>atT		F-box protein 31							97.0	88.0	91.0					16																	87377354		2198	4300	6498	SO:0001819	synonymous_variant	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87377354G>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.507C>T	16.37:g.87377354G>A							p.I169I	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	4	519	-			169					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Silent	SNP	ENST00000311635.7	37	c.507C>T	CCDS32501.1																																																																																				0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		16	26	0	0	0	1	0	16	26				
RAB36	9609	broad.mit.edu	37	22	23503697	23503697	+	Silent	SNP	G	G	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr22:23503697G>T	ENST00000263116.2	+	11	988	c.948G>T	c.(946-948)ggG>ggT	p.G316G	RAB36_ENST00000341989.4_Silent_p.G294G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	316					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AAATGGAAGGGAGTCCGCCCG	0.607																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(946-948)ggG>ggT		RAB36, member RAS oncogene family							47.0	45.0	45.0					22																	23503697		2203	4300	6503	SO:0001819	synonymous_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23503697G>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.948G>T	22.37:g.23503697G>T						RAB36_ENST00000341989.4_Silent_p.G294G	p.G316G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	11	988	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		316					Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	ENST00000263116.2	37	c.948G>T	CCDS13805.1																																																																																				0.607	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		3	15	1	0	0.217242	1	0.217242	3	15				
GCC2	9648	broad.mit.edu	37	2	109086787	109086790	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:109086787_109086790delCAAA	ENST00000309863.6	+	6	1716_1719	c.1002_1005delCAAA	c.(1000-1005)gtcaaafs	p.VK334fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	334					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGAAAAAGTCAAACACTTAGAAG	0.294																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1000-1005)gtfs		GRIP and coiled-coil domain containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086787_109086790delCAAA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1002_1005delCAAA	2.37:g.109086787_109086790delCAAA	ENSP00000307939:p.Val334fs						p.VK334fs	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	1716_1719	+			334					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	c.1002_1005delCAAA	CCDS33268.1																																																																																				0.294	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		13	38						13	38	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47040555	47040555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:47040555delC	ENST00000450053.3	+	24	3670	c.3491delC	c.(3490-3492)gccfs	p.A1164fs	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1164	Leu-rich.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGCTACTGGCCCTGCTAGTG	0.662											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3490-3492)gcfs		neurobeachin-like 2							29.0	34.0	32.0					3																	47040555		2120	4216	6336	SO:0001589	frameshift_variant	23218						binding	g.chr3:47040555delC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3491delC	3.37:g.47040555delC	ENSP00000415034:p.Ala1164fs		OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	p.A1164fs	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	24	3670	+		Acute lymphoblastic leukemia(5;0.0534)	1164			Leu-rich.		O60288|Q6P994|Q6UX91|Q8NAC9	Frame_Shift_Del	DEL	ENST00000450053.3	37	c.3491delC	CCDS46817.1																																																																																				0.662	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		2	4						2	4	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG	rs369273236|rs369196468|rs200032397	byFrequency	TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGAACCTgcaggcaggcg	0.673														58	0.0115815	0.0159	0.0144	5008	,	,		15824	0.0		0.0209	False		,,,				2504	0.0061					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.e12-2		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)			94,3970		14,66,1952						3.5	1.0			11	265,7685		24,217,3734	no	splice-3	SLC12A7	NM_006598.2		38,283,5686	A1A1,A1R,RR		3.3333,2.313,2.9882				359,11655				SO:0001630	splice_region_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1078124_1078125insGCAG	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1455-2->CTGC	5.37:g.1078129_1078132dupGCAG								NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		12	1498	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)							A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Splice_Site	INS	ENST00000264930.5	37		CCDS34129.1																																																																																				0.673	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	Intron	3	6						3	6	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120797466	120797468	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr8:120797466_120797468delCTT	ENST00000378164.2	-	15	2130_2132	c.1832_1834delAAG	c.(1831-1836)gaagtt>gtt	p.E611del		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	611					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCATATCAACTTCTTCTCCATT	0.305																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(1831-1836)gtt>g		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa																																				SO:0001651	inframe_deletion	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120797466_120797468delCTT	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1832_1834delAAG	8.37:g.120797469_120797471delCTT	ENSP00000367406:p.Glu611del						p.EV611del	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		15	2130_2132	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		611					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	In_Frame_Del	DEL	ENST00000378164.2	37	c.1832_1834delAAG	CCDS34937.1																																																																																				0.305	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		29	70						29	70	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680655	81680656	+	RNA	INS	-	-	A	rs369157879|rs567381624|rs577659427	byFrequency	TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:81680655_81680656insA	ENST00000480805.1	+	0	722_723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		AGCTTTTGGGGAAAAAAAAAAG	0.545																																						ENST00000480805.1																			0																																																			0							g.chr10:81680655_81680656insA	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680665_81680665dupA								NR_002724.2						0	722_723	+									RNA	INS	ENST00000480805.1	37																																																																																						0.545	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			2	4						2	4	---	---	---	---
WDR20	91833	broad.mit.edu	37	14	102676161	102676162	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr14:102676161_102676162delGA	ENST00000342702.3	+	3	1685_1686	c.1654_1655delGA	c.(1654-1656)gagfs	p.E552fs	WDR20_ENST00000454394.2_Frame_Shift_Del_p.E583fs|WDR20_ENST00000335263.5_Frame_Shift_Del_p.E552fs|WDR20_ENST00000545563.1_Frame_Shift_Del_p.E379fs|WDR20_ENST00000499851.2_Frame_Shift_Del_p.E295fs|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Frame_Shift_Del_p.E491fs|WDR20_ENST00000556511.2_Frame_Shift_Del_p.E491fs|WDR20_ENST00000424963.2_Frame_Shift_Del_p.E428fs	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	552										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCTTGTCAGGAGGGATTTATT	0.391																																						ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1654-1656)gfs		WD repeat domain 20																																				SO:0001589	frameshift_variant	91833							g.chr14:102676161_102676162delGA	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1654_1655delGA	14.37:g.102676161_102676162delGA	ENSP00000341037:p.Glu552fs					WDR20_ENST00000424963.2_Frame_Shift_Del_p.E428fs|WDR20_ENST00000342702.3_Frame_Shift_Del_p.E552fs|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Frame_Shift_Del_p.E491fs|WDR20_ENST00000556511.2_Frame_Shift_Del_p.E491fs|WDR20_ENST00000545563.1_Frame_Shift_Del_p.E379fs|WDR20_ENST00000499851.2_Frame_Shift_Del_p.E295fs|WDR20_ENST00000454394.2_Frame_Shift_Del_p.E583fs	p.E552fs	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	1734_1735	+			552					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Frame_Shift_Del	DEL	ENST00000342702.3	37	c.1654_1655delGA	CCDS9969.1																																																																																				0.391	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		36	51						36	51	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684390	26684391	+	5'Flank	INS	-	-	C	rs11448856|rs67934205		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:26684390_26684391insC	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Frame_Shift_Ins_p.P28fs	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCACAGAGCGGCTTTGCCACCG	0.762													?|C|CC|unsure	5008	1.0	1.0	1.0	5008	,	,		11683	1.0		1.0	False		,,,				2504	1.0					ENST00000540200.1																			0											c.(79-84)aacgctfs		polymerase (DNA-directed), delta interacting protein 2				2752,40		1369,14,13						3.8	0.1		dbSNP_130	4	6434,100		3190,54,23	no	frameshift	POLDIP2	NM_015584.3		4559,68,36	A1A1,A1R,RR		1.5305,1.4327,1.5012				9186,140				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684390_26684391insC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684391_26684391dupC	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR	p.NA27fs	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	80_81	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		28						Frame_Shift_Ins	INS	ENST00000292114.3	37	c.81_82insG	CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		6	8						6	8	---	---	---	---
