#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
COL24A1	255631	broad.mit.edu	37	1	86488275	86488275	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.e17-1		collagen, type XXIV, alpha 1							62.0	62.0	62.0					1																	86488275		1867	4098	5965	SO:0001630	splice_region_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86488275C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2149-1G>T	1.37:g.86488275C>A			Somatic				COL24A1_ENST00000436319.1_Splice_Site		NM_152890.5	NP_690850.2	WXS	Illumina GAIIx	Phase_I	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	17	2515	-								C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	37		CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419397	0.83559	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4498	0.87589	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86260863	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.661000	0.68025	2.634000	0.89283	0.655000	0.94253	.		0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	Intron	3	42	3	42	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148004650	148004650	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:148004650T>C	ENST00000369219.1	-	22	2680	c.2664A>G	c.(2662-2664)gaA>gaG	p.E888E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	888	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGATATGCTCTTCCTCAAATG	0.433																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(2662-2664)gaA>gaG		neuroblastoma breakpoint family, member 14							108.0	169.0	149.0					1																	148004650		2042	4214	6256	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148004650T>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2664A>G	1.37:g.148004650T>C			Somatic					p.E888E			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			22	2680	-	all_hematologic(923;0.032)		888			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.2664A>G		.	.	.	.	.	.	.	.	.	.	t	0.357	-0.941840	0.02322	.	.	ENSG00000122497	ENST00000310701	.	.	.	0.445	-0.891	0.10573	.	.	.	.	.	T	0.06234	0.0161	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38265	-0.9669	3	.	.	.	.	.	.	.	.	.	.	.	R	894	.	.	K	-	2	0	NBPF14	146471274	0.864000	0.29904	0.000000	0.03702	0.006000	0.05464	0.691000	0.25467	-1.537000	0.01736	-1.189000	0.01698	AAG		0.433	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		89	334	89	334	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(475-477)Cac>Aac		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						181.0	158.0	166.0					1																	159275921		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275921C>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.475C>A	1.37:g.159275921C>A	ENSP00000357097:p.His159Asn		Somatic				FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	p.H159N	NM_002001.3	NP_001992.1	WXS	Illumina GAIIx	Phase_I	P12319	FCERA_HUMAN			5	574	+	all_hematologic(112;0.0429)		159			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.475C>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	C	9.724	1.160329	0.21454	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12147	2.71;2.71	4.7	-3.8	0.04307	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.355120	0.04622	N	0.402118	T	0.01454	0.0047	N	0.05078	-0.115	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.43956	-0.9359	10	0.28530	T	0.3	.	3.5535	0.07855	0.3632:0.2788:0.0:0.358	.	159	P12319	FCERA_HUMAN	N	159;126	ENSP00000357097:H159N;ENSP00000357096:H126N	ENSP00000357096:H126N	H	+	1	0	FCER1A	157542545	0.000000	0.05858	0.000000	0.03702	0.967000	0.64934	-1.302000	0.02746	-0.626000	0.05596	0.650000	0.86243	CAC		0.488	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		22	74	22	74	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(847-849)aGt>aAt		SEC16 homolog B (S. cerevisiae)							67.0	73.0	71.0					1																	177930014		2120	4242	6362	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930014C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.848G>A	1.37:g.177930014C>T	ENSP00000308339:p.Ser283Asn		Somatic				RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N	p.S283N	NM_033127.2	NP_149118.2	WXS	Illumina GAIIx	Phase_I	Q96JE7	SC16B_HUMAN			7	937	-			283					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.848G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703726	0.48412	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.47869	0.83;0.83	5.75	4.85	0.62838	Sec16, central conserved domain (1);	0.224040	0.40640	N	0.001056	T	0.42720	0.1215	L	0.47716	1.5	0.37659	D	0.922715	B;B;B	0.14438	0.01;0.004;0.001	B;B;B	0.16722	0.016;0.016;0.012	T	0.39563	-0.9608	10	0.32370	T	0.25	-5.3252	14.6589	0.68855	0.0:0.9297:0.0:0.0703	.	284;284;283	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	N	283;284	ENSP00000308339:S283N;ENSP00000431727:S284N	ENSP00000308339:S283N	S	-	2	0	AL359075.1	176196637	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.922000	0.48860	1.441000	0.47550	-0.137000	0.14449	AGT		0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		5	40	5	40	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577																																						ENST00000258243.2																			1	Substitution - Missense(1)	p.S499F(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1495-1497)tCt>tTt		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							113.0	118.0	116.0					1																	229771856		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771856C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1496C>T	1.37:g.229771856C>T	ENSP00000258243:p.Ser499Phe		Somatic					p.S499F	NM_014777.2	NP_055592.2	WXS	Illumina GAIIx	Phase_I	Q14146	URB2_HUMAN			4	1632	+			499					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1496C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169357	0.09339	.	.	ENSG00000135763	ENST00000258243	T	0.33216	1.42	5.35	0.996	0.19844	.	1.134710	0.06163	N	0.676348	T	0.23094	0.0558	L	0.34521	1.04	0.09310	N	1	B	0.33448	0.412	B	0.27887	0.084	T	0.24261	-1.0165	9	.	.	.	0.0631	11.0794	0.48051	0.0671:0.3671:0.5657:0.0	.	499	Q14146	URB2_HUMAN	F	499	ENSP00000258243:S499F	.	S	+	2	0	URB2	227838479	0.357000	0.24938	0.001000	0.08648	0.004000	0.04260	1.775000	0.38584	0.327000	0.23409	-0.153000	0.13522	TCT		0.577	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		41	117	41	117	---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:113949974C>T	ENST00000245796.6	+	6	1841	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PSD4_ENST00000441564.3_Missense_Mutation_p.P521L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	549	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557																																						ENST00000441564.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1561-1563)cCg>cTg		pleckstrin and Sec7 domain containing 4			LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	184.0	191.0	189.0		1646	-3.9	0.0	2	dbSNP_134	189	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PSD4	NM_012455.2	98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	549/1057	113949974	2,13004	2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113949974C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1646C>T	2.37:g.113949974C>T	ENSP00000245796:p.Pro549Leu		Somatic				PSD4_ENST00000245796.6_Missense_Mutation_p.P549L	p.P521L			WXS	Illumina GAIIx	Phase_I	Q8NDX1	PSD4_HUMAN			6	1731	+								A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1562C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	0.763	-0.768515	0.02974	2.27E-4	1.16E-4	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.09723	2.95;3.0	3.93	-3.92	0.04155	.	1.186130	0.06672	N	0.766343	T	0.02649	0.0080	N	0.01576	-0.805	0.23611	N	0.997294	B;B;B	0.10296	0.0;0.003;0.002	B;B;B	0.06405	0.0;0.002;0.001	T	0.41770	-0.9490	10	0.14252	T	0.57	.	1.7799	0.03029	0.1571:0.1712:0.1466:0.5251	.	207;521;549	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	L	549;521	ENSP00000245796:P549L;ENSP00000413997:P521L	ENSP00000245796:P549L	P	+	2	0	PSD4	113666445	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.883000	0.04170	-0.775000	0.04584	-0.266000	0.10368	CCG		0.557	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		25	211	25	211	---	---	---	---
ATF2	1386	broad.mit.edu	37	2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000409437.1_5'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CCTGGCAGAATTCACATGTAA	0.284																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(22-24)aAt>aTt		activating transcription factor 2							120.0	125.0	123.0					2																	176001149		2202	4293	6495	SO:0001583	missense	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:176001149T>A	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.23A>T	2.37:g.176001149T>A	ENSP00000264110:p.Asn8Ile		Somatic				ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392543.2_5'UTR	p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	WXS	Illumina GAIIx	Phase_I	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		3	321	-			8					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.23A>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789120	0.31685	.	.	ENSG00000115966	ENST00000264110;ENST00000542046;ENST00000392544;ENST00000409499;ENST00000409833	T;T;D	0.90563	-1.09;-1.09;-2.69	5.57	4.34	0.51931	.	0.646519	0.13397	N	0.390914	T	0.81669	0.4871	N	0.08118	0	0.80722	D	1	B;B	0.27316	0.175;0.109	B;B	0.31191	0.06;0.125	T	0.79296	-0.1862	10	0.66056	D	0.02	-0.3821	10.1543	0.42814	0.0:0.0:0.1673:0.8326	.	8;8	Q96JT8;P15336	.;ATF2_HUMAN	I	8	ENSP00000264110:N8I;ENSP00000376327:N8I;ENSP00000386526:N8I	ENSP00000264110:N8I	N	-	2	0	ATF2	175709395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.019000	0.41001	2.099000	0.63709	0.477000	0.44152	AAT		0.284	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		11	144	11	144	---	---	---	---
BMPR2	659	broad.mit.edu	37	2	203383680	203383680	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:203383680G>C	ENST00000374580.4	+	6	1296	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCCTTTGATGGAACATGACAA	0.423																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(757-759)Gaa>Caa		bone morphogenetic protein receptor, type II (serine/threonine kinase)							178.0	163.0	168.0					2																	203383680		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203383680G>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.757G>C	2.37:g.203383680G>C	ENSP00000363708:p.Glu253Gln		Somatic				BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	p.E253Q	NM_001204.6	NP_001195.2	WXS	Illumina GAIIx	Phase_I	Q13873	BMPR2_HUMAN			6	1296	+			253			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.757G>C	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899653	0.72754	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93019	-3.15;-3.15	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.146545	0.64402	D	0.000007	D	0.90164	0.6926	L	0.31664	0.95	0.80722	D	1	B;B	0.20988	0.05;0.01	B;B	0.18561	0.022;0.019	D	0.85864	0.1412	10	0.66056	D	0.02	.	19.7421	0.96237	0.0:0.0:1.0:0.0	.	253;253	Q13161;Q13873	.;BMPR2_HUMAN	Q	253	ENSP00000363708:E253Q;ENSP00000363702:E253Q	ENSP00000363702:E253Q	E	+	1	0	BMPR2	203091925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.666000	0.90696	0.650000	0.86243	GAA		0.423	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		39	109	39	109	---	---	---	---
PDCL2	132954	broad.mit.edu	37	4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431). {ECO:0000305}.						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269																																						ENST00000295645.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(184-186)gAt>gGt		phosducin-like 2							74.0	70.0	71.0					4																	56447021		1818	4084	5902	SO:0001583	missense	132954							g.chr4:56447021T>C	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.185A>G	4.37:g.56447021T>C	ENSP00000295645:p.Asp62Gly		Somatic					p.D62G	NM_152401.2	NP_689614.2	WXS	Illumina GAIIx	Phase_I	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		3	287	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		62	D -> N (in Ref. 3; AAH34431).				A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.185A>G	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253874	0.39896	.	.	ENSG00000163440	ENST00000295645	T	0.51325	0.71	5.08	5.08	0.68730	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.000000	0.64402	D	0.000004	T	0.52661	0.1748	M	0.81682	2.555	0.36643	D	0.876957	B	0.17465	0.022	B	0.25405	0.06	T	0.61530	-0.7044	10	0.62326	D	0.03	-17.1698	12.6614	0.56815	0.0:0.0:0.0:1.0	.	62	Q8N4E4	PDCL2_HUMAN	G	62	ENSP00000295645:D62G	ENSP00000295645:D62G	D	-	2	0	PDCL2	56141778	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.864000	0.56024	2.051000	0.60960	0.482000	0.46254	GAT		0.269	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		3	9	3	9	---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(34-36)Gct>Act		PDZ and LIM domain 5							66.0	65.0	65.0					4																	95376473		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95376473G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.34G>A	4.37:g.95376473G>A	ENSP00000321746:p.Ala12Thr		Somatic				PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T	p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	WXS	Illumina GAIIx	Phase_I	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	2	170	+		Hepatocellular(203;0.114)	12			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.34G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510695	0.96386	.	.	ENSG00000163110	ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;1.68;1.68;1.68;2.61;2.61;1.68;2.31;1.68;2.31;1.68;1.68	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.157494	0.41823	D	0.000815	T	0.67524	0.2902	M	0.62723	1.935	0.80722	D	1	D;D;D;D;P;P	0.71674	0.998;0.989;0.965;0.986;0.932;0.883	D;D;P;D;B;P	0.80764	0.994;0.927;0.86;0.917;0.303;0.755	T	0.69379	-0.5161	10	0.72032	D	0.01	.	18.1706	0.89744	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	T	12	ENSP00000352210:A12T;ENSP00000398469:A12T;ENSP00000369527:A12T;ENSP00000322021:A12T;ENSP00000401579:A12T;ENSP00000439795:A12T;ENSP00000321746:A12T;ENSP00000426379:A12T;ENSP00000424297:A12T;ENSP00000423009:A12T;ENSP00000426804:A12T;ENSP00000424360:A12T	ENSP00000321746:A12T	A	+	1	0	PDLIM5	95595496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.876000	0.63079	2.578000	0.87016	0.591000	0.81541	GCT		0.403	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			4	35	4	35	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1903-1905)cGt>cAt									112.0	110.0	111.0					5																	140222810		2198	4268	6466	SO:0001583	missense	56140							g.chr5:140222810G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1904G>A	5.37:g.140222810G>A	ENSP00000434655:p.Arg635His		Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	p.R635H	NM_018911.2	NP_061734.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1904G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467287	0.43839	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.35903	U	0.002912	T	0.70745	0.3259	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.63283	0.913;0.84	T	0.65578	-0.6134	10	0.87932	D	0	.	14.3079	0.66395	0.0:0.0:1.0:0.0	.	635;635	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	635	ENSP00000434655:R635H;ENSP00000367363:R635H	ENSP00000367363:R635H	R	+	2	0	PCDHA8	140202994	0.611000	0.26992	0.405000	0.26409	0.126000	0.20510	3.932000	0.56537	1.624000	0.50355	0.313000	0.20887	CGT		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		13	76	13	76	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145493811	145493811	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:145493811A>C	ENST00000394434.2	-	32	3555	c.3389T>G	c.(3388-3390)gTc>gGc	p.V1130G	LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|RP11-118M9.3_ENST00000514002.1_RNA	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1130					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCCCAGGACAGGAACTCG	0.408																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(3388-3390)gTc>gGc		leucyl-tRNA synthetase	L-Leucine(DB00149)						76.0	78.0	77.0					5																	145493811		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145493811A>C	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3389T>G	5.37:g.145493811A>C	ENSP00000377954:p.Val1130Gly		Somatic				LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G	p.V1130G	NM_020117.9	NP_064502.9	WXS	Illumina GAIIx	Phase_I	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		32	3555	-			1130					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.3389T>G	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468504	0.43839	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.64438	-0.09;-0.1;-0.09;-0.1	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.68952	2.095	0.80722	D	1	P;P;B	0.48589	0.698;0.912;0.002	B;P;B	0.47744	0.114;0.556;0.003	T	0.64495	-0.6394	10	0.22706	T	0.39	.	15.2775	0.73753	1.0:0.0:0.0:0.0	.	1103;1084;1130	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	G	1130;1084;439;1076;1103	ENSP00000377954:V1130G;ENSP00000437791:V1084G;ENSP00000426005:V1076G;ENSP00000274562:V1103G	ENSP00000274562:V1103G	V	-	2	0	LARS	145474004	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.779000	0.91792	2.102000	0.63906	0.460000	0.39030	GTC		0.408	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		27	71	27	71	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47846330	47846330	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:47846330G>A	ENST00000339488.4	-	3	2283	c.2250C>T	c.(2248-2250)agC>agT	p.S750S		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	750						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTTGCAAGGAGCTTTTTATAC	0.433																																						ENST00000339488.4																			0											c.(2248-2250)agC>agT		patched domain containing 4							95.0	88.0	90.0					6																	47846330		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846330G>A		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.2250C>T	6.37:g.47846330G>A			Somatic					p.S750S	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			3	2283	-			750					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.2250C>T	CCDS34473.2																																																																																				0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		9	23	9	23	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1447-1449)Caa>Taa		family with sequence similarity 120B							111.0	117.0	115.0					6																	170627925		2203	4300	6503	SO:0001587	stop_gained	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627925C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1447C>T	6.37:g.170627925C>T	ENSP00000417970:p.Gln483*		Somatic				FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*	p.Q483*	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1555	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	483					B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	c.1447C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	-	19.38	3.817043	0.70912	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	0.668	0.668	0.17912	.	1.671780	0.03925	U	0.284196	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	.	.	.	.	.	.	.	X	495;506;483	.	ENSP00000436640:Q483X	Q	+	1	0	FAM120B	170469850	0.011000	0.17503	0.018000	0.16275	0.046000	0.14306	1.261000	0.32980	0.623000	0.30267	0.205000	0.17691	CAA		0.453	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	200	9	200	---	---	---	---
PDP1	54704	broad.mit.edu	37	8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:94935560C>T	ENST00000297598.4	+	2	1542	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000396200.3_Missense_Mutation_p.H450Y	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(1348-1350)Cat>Tat		pyruvate dehyrogenase phosphatase catalytic subunit 1							103.0	98.0	100.0					8																	94935560		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935560C>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1273C>T	8.37:g.94935560C>T	ENSP00000297598:p.His425Tyr		Somatic				PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y	p.H450Y	NM_001161779.1	NP_001155251.1	WXS	Illumina GAIIx	Phase_I	Q9P0J1	PDP1_HUMAN			3	1624	+			425					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.1348C>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137410	0.56936	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	6.03	6.03	0.97812	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.44542	1.39	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.59115	0.852;0.852	T	0.00034	-1.2265	10	0.87932	D	0	-19.4901	20.5568	0.99304	0.0:1.0:0.0:0.0	.	476;425	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Y	425;425;450;425	ENSP00000297598:H425Y;ENSP00000428317:H425Y;ENSP00000379503:H450Y;ENSP00000430380:H425Y	ENSP00000297598:H425Y	H	+	1	0	PDP1	95004736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.974000	0.70465	2.861000	0.98227	0.655000	0.94253	CAT		0.498	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		7	120	7	120	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100866333	100866333	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTGCTCGTCAGCATCCACG	0.537																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10789-10791)gtC>gtT		vacuolar protein sorting 13 homolog B (yeast)							116.0	98.0	105.0					8																	100866333		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100866333C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10791C>T	8.37:g.100866333C>T			Somatic				VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	p.V3597V	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10902	+	Breast(36;3.73e-07)		3597					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.10791C>T	CCDS6280.1																																																																																				0.537	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		10	80	10	80	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64967187	64967187	+	Silent	SNP	T	T	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4240-4242)tcA>tcC		jumonji domain containing 1C							124.0	123.0	123.0					10																	64967187		1932	4128	6060	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967187T>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4242A>C	10.37:g.64967187T>G			Somatic				JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	p.S1414S	NM_032776.1	NP_116165.1	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			10	4460	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1414					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.4242A>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	3.775	-0.046928	0.07407	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.72	3.25	0.37280	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-5.3966	7.3828	0.26866	0.0:0.0688:0.2757:0.6555	.	.	.	.	P	100	.	.	Q	-	2	0	JMJD1C	64637193	0.998000	0.40836	1.000000	0.80357	0.944000	0.59088	0.387000	0.20718	0.963000	0.38082	0.482000	0.46254	CAG		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		17	148	17	148	---	---	---	---
VAX1	11023	broad.mit.edu	37	10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:118897516C>A	ENST00000369206.5	-	1	51	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000277905.2_Missense_Mutation_p.A18S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(52-54)Gct>Tct		ventral anterior homeobox 1							44.0	49.0	47.0					10																	118897516		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118897516C>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.52G>T	10.37:g.118897516C>A	ENSP00000358207:p.Ala18Ser		Somatic				VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	p.A18S	NM_199131.2	NP_954582.1	WXS	Illumina GAIIx	Phase_I	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	1	296	-			18					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.52G>T	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.267099	0.23136	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.91686	-2.22;-2.89	4.25	3.08	0.35506	.	0.471174	0.20425	N	0.092594	T	0.81113	0.4755	N	0.14661	0.345	0.32661	N	0.518075	B;B	0.28291	0.043;0.206	B;B	0.31101	0.027;0.124	T	0.75709	-0.3223	10	0.05436	T	0.98	-7.1941	9.7893	0.40695	0.0:0.8104:0.0:0.1896	.	18;18	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	S	18	ENSP00000277905:A18S;ENSP00000358207:A18S	ENSP00000277905:A18S	A	-	1	0	VAX1	118887506	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.406000	0.34646	1.896000	0.54893	0.305000	0.20034	GCT		0.552	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		8	88	8	88	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60164141	60164141	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(88-90)ccT>ccC		membrane-spanning 4-domains, subfamily A, member 14							106.0	87.0	94.0					11																	60164141		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60164141T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.90T>C	11.37:g.60164141T>C			Somatic				MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron	p.P30P	NM_032597.4	NP_115986.3	WXS	Illumina GAIIx	Phase_I	Q96JA4	M4A14_HUMAN			1	367	+			30					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.90T>C	CCDS31569.1																																																																																				0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			3	32	3	32	---	---	---	---
DDN	23109	broad.mit.edu	37	12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(1126-1128)Gaa>Aaa		dendrin							49.0	46.0	47.0					12																	49391533		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391533C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1126G>A	12.37:g.49391533C>T	ENSP00000390590:p.Glu376Lys		Somatic					p.E376K	NM_015086.1	NP_055901.2	WXS	Illumina GAIIx	Phase_I	O94850	DEND_HUMAN			2	1147	-			376			Interaction with ACTN1.			Missense_Mutation	SNP	ENST00000421952.2	37	c.1126G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117337	0.37339	.	.	ENSG00000181418	ENST00000421952	T	0.47869	0.83	3.48	2.59	0.31030	.	0.000000	0.47093	D	0.000243	T	0.30759	0.0775	L	0.27053	0.805	0.35272	D	0.780551	B	0.12013	0.005	B	0.12156	0.007	T	0.29088	-1.0023	10	0.46703	T	0.11	-11.5308	7.0527	0.25081	0.0:0.875:0.0:0.125	.	376	O94850	DEND_HUMAN	K	376	ENSP00000390590:E376K	ENSP00000390590:E376K	E	-	1	0	DDN	47677800	0.953000	0.32496	0.983000	0.44433	0.903000	0.53119	1.097000	0.30988	1.076000	0.40961	-0.254000	0.11334	GAA		0.632	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			15	43	15	43	---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43507486G>T	ENST00000441366.2	-	3	462	c.237C>A	c.(235-237)ttC>ttA	p.F79L	EPB42_ENST00000300215.3_Missense_Mutation_p.F109L|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(325-327)ttC>ttA		erythrocyte membrane protein band 4.2							144.0	117.0	126.0					15																	43507486		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43507486G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.237C>A	15.37:g.43507486G>T	ENSP00000396616:p.Phe79Leu		Somatic				EPB42_ENST00000441366.2_Missense_Mutation_p.F79L|EPB42_ENST00000540029.1_Intron	p.F109L			WXS	Illumina GAIIx	Phase_I	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	3	784	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	79					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.327C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550027	0.45383	.	.	ENSG00000166947	ENST00000300215;ENST00000441366;ENST00000397027	D;D	0.83591	-1.74;-1.74	5.29	4.38	0.52667	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.434721	0.28453	N	0.015299	D	0.82751	0.5105	M	0.70787	2.145	0.40427	D	0.979905	B;P	0.43750	0.406;0.816	B;P	0.45998	0.226;0.5	T	0.83039	-0.0158	10	0.51188	T	0.08	-11.8947	7.9116	0.29793	0.1795:0.0:0.8205:0.0	.	109;79	P16452-2;P16452	.;EPB42_HUMAN	L	109;79;79	ENSP00000300215:F109L;ENSP00000396616:F79L	ENSP00000300215:F109L	F	-	3	2	EPB42	41294778	1.000000	0.71417	0.095000	0.20976	0.261000	0.26267	1.027000	0.30115	1.480000	0.48289	0.655000	0.94253	TTC		0.542	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		11	99	11	99	---	---	---	---
UBE2I	7329	broad.mit.edu	37	16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532																																						ENST00000355803.4																			0				breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(367-369)cCa>cTa		ubiquitin-conjugating enzyme E2I							104.0	100.0	102.0					16																	1370473		2199	4300	6499	SO:0001583	missense	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1370473C>T	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.368C>T	16.37:g.1370473C>T	ENSP00000348056:p.Pro123Leu		Somatic				UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L	p.P123L	NM_194260.2	NP_919236.1	WXS	Illumina GAIIx	Phase_I	P63279	UBC9_HUMAN			6	919	+		Hepatocellular(780;0.00369)	123					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	ENST00000355803.4	37	c.368C>T	CCDS10433.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294575	0.81025	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.13	4.18	0.49190	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80093	0.4560	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85305	0.1075	10	0.87932	D	0	.	11.3829	0.49768	0.0:0.9123:0.0:0.0877	.	123;123	B0QYN7;P63279	.;UBC9_HUMAN	L	123	ENSP00000324897:P123L;ENSP00000348056:P123L;ENSP00000380649:P123L;ENSP00000380650:P123L;ENSP00000384568:P123L;ENSP00000385009:P123L;ENSP00000384361:P123L	ENSP00000324897:P123L	P	+	2	0	UBE2I	1310474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.606000	0.82863	1.409000	0.46915	0.561000	0.74099	CCA		0.532	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345		6	93	6	93	---	---	---	---
PLEKHH3	79990	broad.mit.edu	37	17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:40821536T>A	ENST00000591022.1	-	12	2504	c.2117A>T	c.(2116-2118)tAt>tTt	p.Y706F	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.Y703F|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(2107-2109)tAt>tTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							29.0	31.0	30.0					17																	40821536		2203	4299	6502	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40821536T>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.2117A>T	17.37:g.40821536T>A	ENSP00000468678:p.Tyr706Phe		Somatic				PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F	p.Y703F			WXS	Illumina GAIIx	Phase_I	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	12	2538	-		Breast(137;0.00116)	706			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.2108A>T	CCDS11434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.573084|4.573084	0.86542|0.86542	.|.	.|.	ENSG00000068137|ENSG00000068137	ENST00000456950|ENST00000293349;ENST00000412503	.|D	.|0.91792	.|-2.91	4.43|4.43	4.43|4.43	0.53597|0.53597	.|FERM domain (1);	.|0.000000	.|0.38058	.|N	.|0.001834	D|D	0.94427|0.94427	0.8207|0.8207	M|M	0.62723|0.62723	1.935|1.935	0.30999|0.30999	N|N	0.720491|0.720491	.|D	.|0.67145	.|0.996	.|D	.|0.70227	.|0.968	D|D	0.92608|0.92608	0.6097|0.6097	6|10	0.02654|0.40728	T|T	1|0.16	-4.7659|-4.7659	13.3337|13.3337	0.60505|0.60505	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|706	.|Q7Z736	.|PKHH3_HUMAN	L|F	357|706;529	.|ENSP00000411885:Y529F	ENSP00000394251:M357L|ENSP00000293349:Y706F	M|Y	-|-	1|2	0|0	PLEKHH3|PLEKHH3	38075062|38075062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.171000|3.171000	0.50824|0.50824	1.996000|1.996000	0.58369|0.58369	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.667	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		4	38	4	38	---	---	---	---
METTL23	124512	broad.mit.edu	37	17	74729679	74729679	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:74729679G>A	ENST00000341249.6	+	5	816	c.484G>A	c.(484-486)Gca>Aca	p.A162T	METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'Flank|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|MFSD11_ENST00000586622.1_5'Flank|MIR636_ENST00000384825.1_RNA|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586738.1_3'UTR	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	162						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						GTCTTTTGATGCAGACAAAGA	0.373																																						ENST00000341249.6																			0				large_intestine(2)|lung(1)	3						c.(484-486)Gca>Aca		methyltransferase like 23							178.0	178.0	178.0					17																	74729679		1882	4104	5986	SO:0001583	missense	124512					integral to membrane	methyltransferase activity	g.chr17:74729679G>A		CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.484G>A	17.37:g.74729679G>A	ENSP00000341543:p.Ala162Thr		Somatic				RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR	p.A162T	NM_001206984.1	NP_001193913.1	WXS	Illumina GAIIx	Phase_I	Q86XA0	MET23_HUMAN			5	816	+			162					H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	37	c.484G>A	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204291	0.95033	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.23147	1.92	5.93	5.93	0.95920	.	0.105676	0.64402	D	0.000005	T	0.48205	0.1487	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09509	-1.0671	10	0.35671	T	0.21	-19.3633	20.3539	0.98825	0.0:0.0:1.0:0.0	.	162	Q86XA0	MET23_HUMAN	T	241;162	ENSP00000341543:A162T	ENSP00000316862:A241T	A	+	1	0	METTL23	72241274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.294000	0.96088	2.826000	0.97356	0.655000	0.94253	GCA		0.373	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510		54	119	54	119	---	---	---	---
ZNF324	25799	broad.mit.edu	37	19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(589-591)cCa>cTa		zinc finger protein 324							36.0	43.0	40.0					19																	58982449		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982449C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.590C>T	19.37:g.58982449C>T	ENSP00000444812:p.Pro197Leu		Somatic				ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR	p.P197L			WXS	Illumina GAIIx	Phase_I	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1299	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	197					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.590C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006909	0.35415	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06218	3.33;3.33	3.4	-1.46	0.08800	.	1.075970	0.07388	N	0.888548	T	0.04407	0.0121	L	0.34521	1.04	0.18873	N	0.999984	P	0.43094	0.799	B	0.35859	0.212	T	0.40270	-0.9572	10	0.39692	T	0.17	.	4.9405	0.13963	0.0:0.5455:0.1583:0.2962	.	197	O75467	Z324A_HUMAN	L	197;197;197;187	ENSP00000196482:P197L;ENSP00000444812:P197L	ENSP00000196482:P197L	P	+	2	0	ZNF324	63674261	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.802000	0.27069	-0.147000	0.11254	0.455000	0.32223	CCA		0.647	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	48	3	48	---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1210-1212)Gcc>Tcc		junctophilin 2							97.0	98.0	98.0					20																	42747223		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42747223C>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1210G>T	20.37:g.42747223C>A	ENSP00000362071:p.Ala404Ser		Somatic					p.A404S	NM_020433.4	NP_065166.2	WXS	Illumina GAIIx	Phase_I	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	2082	-		Myeloproliferative disorder(115;0.0122)	404			Ala-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1210G>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895190	0.91962	.	.	ENSG00000149596	ENST00000372980	T	0.69040	-0.37	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.74467	2.265	0.80722	D	1	D	0.62365	0.991	P	0.57204	0.815	T	0.81602	-0.0858	10	0.62326	D	0.03	.	16.6039	0.84823	0.0:1.0:0.0:0.0	.	404	Q9BR39	JPH2_HUMAN	S	404	ENSP00000362071:A404S	ENSP00000362071:A404S	A	-	1	0	JPH2	42180637	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.974000	0.76122	2.198000	0.70561	0.561000	0.74099	GCC		0.607	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			9	169	9	169	---	---	---	---
MSN	4478	broad.mit.edu	37	X	64949442	64949442	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:64949442A>C	ENST00000360270.5	+	4	507	c.335A>C	c.(334-336)aAt>aCt	p.N112T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	112	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGCATTCTCAATGATGATATT	0.498			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(334-336)aAt>aCt		moesin							110.0	83.0	92.0					X																	64949442		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949442A>C	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.335A>C	X.37:g.64949442A>C	ENSP00000353408:p.Asn112Thr		Somatic					p.N112T	NM_002444.2	NP_002435.1	WXS	Illumina GAIIx	Phase_I	P26038	MOES_HUMAN			4	507	+			112			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.335A>C	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306036	0.40795	.	.	ENSG00000147065	ENST00000360270	T	0.78246	-1.16	5.99	3.63	0.41609	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.125030	0.64402	D	0.000001	T	0.54615	0.1869	N	0.05608	-0.01	0.54753	D	0.999987	B	0.09022	0.002	B	0.12156	0.007	T	0.40515	-0.9559	10	0.18276	T	0.48	.	8.3864	0.32503	0.8385:0.0:0.1615:0.0	.	112	P26038	MOES_HUMAN	T	112	ENSP00000353408:N112T	ENSP00000353408:N112T	N	+	2	0	MSN	64866167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.027000	0.49697	0.867000	0.35654	0.486000	0.48141	AAT		0.498	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		17	14	17	14	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123839059	123839059	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:123839059G>A	ENST00000371130.3	-	5	882	c.819C>T	c.(817-819)ttC>ttT	p.F273F	TENM1_ENST00000422452.2_Silent_p.F273F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	273	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGCTGCACTGAAGATCGCAG	0.493																																						ENST00000422452.2																			0											c.(817-819)ttC>ttT		teneurin transmembrane protein 1							110.0	96.0	101.0					X																	123839059		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123839059G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.819C>T	X.37:g.123839059G>A			Somatic				TENM1_ENST00000371130.3_Silent_p.F273F	p.F273F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					5	882	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.819C>T	CCDS14609.1																																																																																				0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		45	25	45	25	---	---	---	---
CAPSL	133690	broad.mit.edu	37	5	35910128	35910128	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:35910128delT	ENST00000397367.2	-	4	491	c.365delA	c.(364-366)aagfs	p.K122fs	CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	122	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTGTCTAACTTTCTAAAAGC	0.388																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(364-366)aagfs		calcyphosine-like							142.0	137.0	139.0					5																	35910128		2203	4300	6503	SO:0001589	frameshift_variant	133690					cytoplasm	calcium ion binding	g.chr5:35910128delT	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.365delA	5.37:g.35910128delT	ENSP00000380524:p.Lys122fs		Somatic				CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	p.K122fs	NM_144647.3	NP_653248.3	WXS	Illumina GAIIx	Phase_I	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	491	-	all_lung(31;0.000268)		122			EF-hand 3.			Frame_Shift_Del	DEL	ENST00000397367.2	37	c.365delA	CCDS3912.2																																																																																				0.388	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		33	68	33	68	---	---	---	---
FABP4	2167	broad.mit.edu	37	8	82391107	82391107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:82391107delC	ENST00000256104.4	-	4	487	c.392delG	c.(391-393)agafs	p.R131fs	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	131					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GGCTTATGCTCTCTCATAAAC	0.383																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(391-393)agafs		fatty acid binding protein 4, adipocyte							191.0	159.0	170.0					8																	82391107		2203	4300	6503	SO:0001589	frameshift_variant	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82391107delC	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.392delG	8.37:g.82391107delC	ENSP00000256104:p.Arg131fs		Somatic				FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	p.R131fs	NM_001442.2	NP_001433.1	WXS	Illumina GAIIx	Phase_I	P15090	FABP4_HUMAN	Epithelial(68;0.213)		4	487	-			131					Q6IBA1	Frame_Shift_Del	DEL	ENST00000256104.4	37	c.392delG	CCDS6230.1																																																																																				0.383	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		18	59	18	59	---	---	---	---
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)agtfs	p.S163fs	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs|ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(487-489)agtfs		asporin							225.0	212.0	217.0					9																	95228754		2203	4300	6503	SO:0001589	frameshift_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95228754delT	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.487delA	9.37:g.95228754delT	ENSP00000364694:p.Ser163fs		Somatic				CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	p.S163fs	NM_017680.4	NP_060150	WXS	Illumina GAIIx	Phase_I	Q9BXN1	ASPN_HUMAN			4	730	-			163					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Frame_Shift_Del	DEL	ENST00000375544.3	37	c.487delA																																																																																					0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		22	110	22	110	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47692564	47692565	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr21:47692564_47692565delGT	ENST00000397708.1	-	9	2629_2630	c.2375_2376delAC	c.(2374-2376)gacfs	p.D792fs	MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	792	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTTTCTCAGGTCCTGGTACAT	0.5																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2374-2376)gacfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47692564_47692565delGT	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2375_2376delAC	21.37:g.47692564_47692565delGT	ENSP00000380820:p.Asp792fs		Somatic				MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs	p.D792fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			9	2629_2630	-	Breast(49;0.112)		792					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Del	DEL	ENST00000397708.1	37	c.2375_2376delAC	CCDS13734.1																																																																																				0.500	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		45	102	45	102	---	---	---	---
