#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTR2	10097	genome.wustl.edu	37	2	65480893	65480893	+	Silent	SNP	A	A	G			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:65480893A>G	ENST00000260641.5	+	5	637	c.480A>G	c.(478-480)ggA>ggG	p.G160G	ACTR2_ENST00000542850.1_Silent_p.G105G|ACTR2_ENST00000377982.4_Silent_p.G165G	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	160					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TAGACTCTGGAGATGGTGTGA	0.418																																						dbGAP											0													182.0	170.0	174.0					2																	65480893		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.480A>G	2.37:g.65480893A>G			B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G165	ENST00000260641.5	37	c.495	CCDS1881.1	2																																																																																			ACTR2	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000138071		0.418	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	277	0.36	1	A	NM_001005386		65480893	65480893	+1	no_errors	ENST00000377982	ensembl	human	known	69_37n	silent	225	18.77	52	SNP	0.994	G
AIM1	202	genome.wustl.edu	37	6	106968546	106968546	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr6:106968546A>T	ENST00000369066.3	+	2	2726	c.2239A>T	c.(2239-2241)Aaa>Taa	p.K747*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTTTGATCCCAAAGTGTTTAC	0.448																																						dbGAP											0													63.0	66.0	65.0					6																	106968546		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2239A>T	6.37:g.106968546A>T	ENSP00000358062:p.Lys747*		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.K747*	ENST00000369066.3	37	c.2239	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	A	45	11.496485	0.99568	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	6.16	6.16	0.99307	.	0.550372	0.19089	N	0.123020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	11.0377	0.47811	0.9314:0.0:0.0686:0.0	.	.	.	.	X	1155;747	.	ENSP00000285105:K1155X	K	+	1	0	AIM1	107075239	0.975000	0.34042	0.782000	0.31804	0.870000	0.49936	4.673000	0.61604	2.367000	0.80283	0.528000	0.53228	AAA	AIM1	-	NULL	ENSG00000112297		0.448	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	45	0.00	0	A			106968546	106968546	+1	no_errors	ENST00000369066	ensembl	human	known	69_37n	nonsense	73	14.12	12	SNP	0.652	T
ANKRD30BL	554226	genome.wustl.edu	37	2	133015485	133015485	+	5'UTR	SNP	C	C	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:133015485C>A	ENST00000470729.1	-	0	57				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						AACCCACACACAACCTGTCGG	0.697																																						dbGAP											0													58.0	58.0	58.0					2																	133015485		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1368G>T	2.37:g.133015485C>A			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.697	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	26	0.00	0	C	NR_027019		133015485	133015485	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	166	10.75	20	SNP	0.001	A
C4orf50	389197	genome.wustl.edu	37	4	5982066	5982066	+	Splice_Site	SNP	C	C	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr4:5982066C>A	ENST00000324058.5	-	2	93		c.e2-1		C4orf50_ENST00000531445.1_Splice_Site			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGTCCCGGAGCTGCGGAAATC	0.542																																						dbGAP											0													20.0	24.0	23.0					4																	5982066		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.4-1G>T	4.37:g.5982066C>A				Splice_Site	SNP	-	e2-1	ENST00000324058.5	37	c.1426-1		4	.	.	.	.	.	.	.	.	.	.	C	8.238	0.806241	0.16467	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	.	.	.	3.7	2.82	0.32997	.	.	.	.	.	.	.	.	.	.	.	0.36266	D	0.85484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0092	0.36131	0.0:0.7729:0.2271:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C4orf50	6032967	0.302000	0.24454	0.027000	0.17364	0.006000	0.05464	0.679000	0.25291	0.866000	0.35629	0.655000	0.94253	.	C4orf50	-	-	ENSG00000181215		0.542	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		62	0.00	0	C	NM_207405	Intron	5982066	5982066	-1	no_errors	ENST00000531445	ensembl	human	known	69_37n	splice_site	16	30.43	7	SNP	0.091	A
CDH1	999	genome.wustl.edu	37	16	68844104	68844105	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr16:68844104_68844105delTC	ENST00000261769.5	+	6	883_884	c.692_693delTC	c.(691-693)ttcfs	p.F231fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.F231fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	231	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TTTCAGCTCTTCTCTCACGCTG	0.535			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(4)	breast(4)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.692_693delTC	16.37:g.68844108_68844109delTC	ENSP00000261769:p.Phe231fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H233fs	ENST00000261769.5	37	c.692_693	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.535	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	150	0.00	0	TC	NM_004360		68844104	68844105	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	55	46.30	50	DEL	0.001:0.001	-
DNAH6	1768	genome.wustl.edu	37	2	85046494	85046494	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:85046494G>A	ENST00000237449.6	+	76	12447	c.12439G>A	c.(12439-12441)Gcc>Acc	p.A4147T	TRABD2A_ENST00000479944.1_5'Flank|DNAH6_ENST00000389394.3_Missense_Mutation_p.A4147T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	4147					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTACTGGATTGCCAAGGGATC	0.453																																						dbGAP											0													109.0	100.0	103.0					2																	85046494		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.12439G>A	2.37:g.85046494G>A	ENSP00000237449:p.Ala4147Thr		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A4147T	ENST00000237449.6	37	c.12439	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146918	0.57151	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.41758	0.99;0.99	5.58	4.7	0.59300	Dynein heavy chain (1);	0.446577	0.17275	N	0.180215	T	0.27524	0.0676	N	0.19112	0.55	0.80722	D	1	B	0.13594	0.008	B	0.19946	0.027	T	0.05241	-1.0897	10	0.14252	T	0.57	.	11.6843	0.51476	0.0:0.0:0.6804:0.3195	.	4147	Q9C0G6	DYH6_HUMAN	T	4147	ENSP00000374045:A4147T;ENSP00000237449:A4147T	ENSP00000237449:A4147T	A	+	1	0	DNAH6	84900005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.773000	0.47686	1.336000	0.45506	0.655000	0.94253	GCC	DNAH6	-	pfam_Dynein_heavy	ENSG00000115423		0.453	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	222	0.00	0	G	NM_001370		85046494	85046494	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	115	18.44	26	SNP	0.998	A
FAM160B2	64760	genome.wustl.edu	37	8	21957342	21957342	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr8:21957342G>A	ENST00000289921.7	+	10	1325	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	427										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGAAGCCCCCGGGGACAACCC	0.647																																						dbGAP											0													33.0	39.0	37.0					8																	21957342		1973	4134	6107	-	-	-	SO:0001583	missense	0			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1279G>A	8.37:g.21957342G>A	ENSP00000289921:p.Gly427Arg		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.G427R	ENST00000289921.7	37	c.1279	CCDS6021.2	8	.	.	.	.	.	.	.	.	.	.	.	1.406	-0.576722	0.03854	.	.	ENSG00000158863	ENST00000289921	T	0.26810	1.71	5.64	3.73	0.42828	.	0.669254	0.14996	N	0.286409	T	0.17408	0.0418	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.19128	-1.0315	10	0.29301	T	0.29	-6.1987	11.0463	0.47861	0.0753:0.0:0.795:0.1297	.	427	Q86V87	F16B2_HUMAN	R	427	ENSP00000289921:G427R	ENSP00000289921:G427R	G	+	1	0	FAM160B2	22013287	0.010000	0.17322	0.005000	0.12908	0.002000	0.02628	1.055000	0.30467	0.758000	0.33059	-0.797000	0.03246	GGG	FAM160B2	-	pfam_RetinoicA-induced_16-like	ENSG00000158863		0.647	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	35	0.00	0	G			21957342	21957342	+1	no_errors	ENST00000289921	ensembl	human	known	69_37n	missense	25	35.00	14	SNP	0.007	A
NUTM2B	729262	genome.wustl.edu	37	10	81465798	81465798	+	Splice_Site	SNP	C	C	T	rs529986700	byFrequency	TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr10:81465798C>T	ENST00000429828.1	+	2	766	c.383C>T	c.(382-384)gCa>gTa	p.A128V	RP11-119F19.2_ENST00000601369.1_RNA|NUTM2B_ENST00000448135.1_Splice_Site_p.A128V|NUTM2B_ENST00000372321.1_Splice_Site_p.A61V|RP11-119F19.2_ENST00000600376.1_RNA|RP11-119F19.2_ENST00000596088.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	128																	GTCTCCACAGCATACCCAGTG	0.617													N|||	659	0.131589	0.1112	0.1311	5008	,	,		19252	0.256		0.1213	False		,,,				2504	0.0419					dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.383-1C>T	10.37:g.81465798C>T			A6NM73	Missense_Mutation	SNP	NULL	p.A128V	ENST00000429828.1	37	c.383		10	.	.	.	.	.	.	.	.	.	.	.	12.43	1.937068	0.34189	.	.	ENSG00000188199	ENST00000448135;ENST00000429828;ENST00000372321	T;T;T	0.34072	1.38;2.16;1.43	1.56	0.567	0.17325	.	.	.	.	.	T	0.26738	0.0654	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.33214	-0.9877	4	.	.	.	.	5.1855	0.15182	0.3429:0.6571:0.0:0.0	.	.	.	.	V	128;128;61	ENSP00000391631:A128V;ENSP00000394623:A128V;ENSP00000361396:A61V	.	A	+	2	0	FAM22B	81135804	0.812000	0.29077	0.255000	0.24374	0.576000	0.36127	1.917000	0.39996	0.279000	0.22186	0.391000	0.25812	GCA	FAM22B	-	NULL	ENSG00000188199		0.617	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	FAM22B	HGNC	protein_coding		18	0.00	0	C	NG_012780	Missense_Mutation	81465798	81465798	+1	no_errors	ENST00000429828	ensembl	human	known	69_37n	missense	6	33.33	3	SNP	0.326	T
FCN1	2219	genome.wustl.edu	37	9	137809681	137809681	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr9:137809681C>T	ENST00000371806.3	-	1	128	c.37G>A	c.(37-39)Gct>Act	p.A13T		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	13					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AGCAGGACAGCGAGCCCCCGG	0.582																																						dbGAP											0													89.0	86.0	87.0					9																	137809681		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.37G>A	9.37:g.137809681C>T	ENSP00000360871:p.Ala13Thr		Q5VYV5|Q92596	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.A13T	ENST00000371806.3	37	c.37	CCDS6985.1	9	.	.	.	.	.	.	.	.	.	.	C	7.154	0.584406	0.13749	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.82893	-1.66	4.07	-5.4	0.02656	.	.	.	.	.	T	0.62356	0.2421	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.45293	-0.9271	9	0.26408	T	0.33	.	1.8334	0.03134	0.137:0.2719:0.1347:0.4563	.	13	O00602	FCN1_HUMAN	T	13	ENSP00000360871:A13T	ENSP00000308877:A13T	A	-	1	0	FCN1	136949502	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.978000	0.00664	-1.720000	0.01380	-0.233000	0.12211	GCT	FCN1	-	NULL	ENSG00000085265		0.582	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN1	HGNC	protein_coding	OTTHUMT00000054963.1	48	0.00	0	C	NM_002003		137809681	137809681	-1	no_errors	ENST00000371806	ensembl	human	known	69_37n	missense	49	19.67	12	SNP	0.000	T
FICD	11153	genome.wustl.edu	37	12	108913081	108913081	+	Silent	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr12:108913081G>A	ENST00000552695.1	+	3	1441	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	402	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						ACTACCACGTGTTGGAAGCTG	0.592																																						dbGAP											0													99.0	94.0	95.0					12																	108913081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1206G>A	12.37:g.108913081G>A			O75406	Silent	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V402	ENST00000552695.1	37	c.1206	CCDS9116.1	12																																																																																			FICD	-	superfamily_Fido	ENSG00000198855		0.592	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1	104	0.00	0	G	NM_007076		108913081	108913081	+1	no_errors	ENST00000552695	ensembl	human	known	69_37n	silent	88	12.00	12	SNP	0.222	A
FOLR3	2352	genome.wustl.edu	37	11	71847146	71847146	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr11:71847146G>A	ENST00000445078.2	+	2	213	c.142G>A	c.(142-144)Gag>Aag	p.E48K	FOLR3_ENST00000456237.1_Missense_Mutation_p.E50K|FOLR3_ENST00000442948.2_Missense_Mutation_p.E50K			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	48					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GCCCAGCCCCGAGGACGAGCT	0.637																																						dbGAP											0													93.0	97.0	95.0					11																	71847146		2200	4293	6493	-	-	-	SO:0001583	missense	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.142G>A	11.37:g.71847146G>A	ENSP00000390338:p.Glu48Lys		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.E50K	ENST00000445078.2	37	c.148		11	.	.	.	.	.	.	.	.	.	.	N	22.2	4.263526	0.80358	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948;ENST00000546166	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	3.57	3.57	0.40892	Folate receptor-like (1);	0.000000	0.64402	U	0.000005	T	0.78786	0.4338	.	.	.	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.82633	-0.0361	9	0.87932	D	0	.	13.7298	0.62781	0.0:0.0:1.0:0.0	.	50;48	E9PGT2;P41439	.;FOLR3_HUMAN	K	48;50;50;48	ENSP00000390338:E48K;ENSP00000399235:E50K;ENSP00000411161:E50K;ENSP00000446279:E48K	ENSP00000325032:E48K	E	+	1	0	FOLR3	71524794	1.000000	0.71417	0.047000	0.18901	0.008000	0.06430	4.225000	0.58600	1.533000	0.49186	0.491000	0.48974	GAG	FOLR3	-	NULL	ENSG00000110203		0.637	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	126	0.00	0	G	NM_000804		71847146	71847146	+1	no_errors	ENST00000456237	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.994	A
FOXI3	344167	genome.wustl.edu	37	2	88747939	88747939	+	RNA	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:88747939G>A	ENST00000398142.3	-	0	1126							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						AGAACACGCCGCTGGAGGGCA	0.617																																					Pancreas(81;472 1448 16397 17495 22123)	dbGAP											0													42.0	44.0	43.0					2																	88747939		692	1591	2283	-	-	-			0			BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88747939G>A			B5RI09	RNA	SNP	-	NULL	ENST00000398142.3	37	NULL		2																																																																																			FOXI3	-	-	ENSG00000214336		0.617	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	FOXI3	HGNC	processed_transcript	OTTHUMT00000338241.2	85	0.00	0	G	NM_001135649		88747939	88747939	-1	no_errors	ENST00000398142	ensembl	human	known	69_37n	rna	82	14.58	14	SNP	0.031	A
MAGIX	79917	genome.wustl.edu	37	X	49021699	49021699	+	Splice_Site	DEL	G	G	-			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chrX:49021699delG	ENST00000412696.2	+	5	679	c.679delG	c.(679-681)gtc>tc	p.V227fs	MAGIX_ENST00000376339.1_Splice_Site_p.D168fs|MAGIX_ENST00000425661.2_Splice_Site_p.V151fs|MAGIX_ENST00000376338.3_Splice_Site_p.V168fs|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	227																	AAAAGGAGTTGGTGGGTTTCC	0.597																																						dbGAP											0													8.0	8.0	8.0					X																	49021699		1867	4041	5908	-	-	-	SO:0001630	splice_region_variant	0			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.679+1G>-	X.37:g.49021699delG			A6XND4|A8MSX9|B7WP26|Q14C81	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V227fs	ENST00000412696.2	37	c.679	CCDS48106.1	X																																																																																			MAGIX	-	NULL	ENSG00000017621		0.597	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	37	0.00	0	G	NM_024859	Frame_Shift_Del	49021699	49021699	+1	no_errors	ENST00000412696	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	0.009	-
MAGEA10	4109	genome.wustl.edu	37	X	151303750	151303750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chrX:151303750C>A	ENST00000370323.4	-	4	659	c.343G>T	c.(343-345)Gag>Tag	p.E115*	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Nonsense_Mutation_p.E115*	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	115						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGACTCTCCTCCTTTTGG	0.512																																						dbGAP											0													159.0	156.0	157.0					X																	151303750		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.343G>T	X.37:g.151303750C>A	ENSP00000359347:p.Glu115*			Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E115*	ENST00000370323.4	37	c.343	CCDS14705.1	X	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617607	0.46736	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	.	.	.	2.33	1.44	0.22558	.	0.237175	0.43110	D	0.000609	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.4215	0.11482	0.0:0.7966:0.0:0.2034	.	.	.	.	X	115	.	ENSP00000244096:E115X	E	-	1	0	MAGEA10	151054406	0.003000	0.15002	0.002000	0.10522	0.074000	0.17049	0.559000	0.23485	0.414000	0.25790	0.292000	0.19580	GAG	MAGEA10	-	pfam_Melanoma_ass_antigen_N	ENSG00000124260		0.512	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGEA10	HGNC	protein_coding	OTTHUMT00000060916.3	123	0.00	0	C	NM_021048		151303750	151303750	-1	no_errors	ENST00000244096	ensembl	human	known	69_37n	nonsense	196	27.68	75	SNP	0.002	A
KMT2C	58508	genome.wustl.edu	37	7	151878506	151878506	+	Nonsense_Mutation	SNP	G	G	A	rs555421470		TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr7:151878506G>A	ENST00000262189.6	-	36	6657	c.6439C>T	c.(6439-6441)Caa>Taa	p.Q2147*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2147*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2147	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGAAGATTGGGAATAAGAA	0.512																																						dbGAP											0													109.0	117.0	115.0					7																	151878506		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6439C>T	7.37:g.151878506G>A	ENSP00000262189:p.Gln2147*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2147*	ENST00000262189.6	37	c.6439	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.014444	0.99775	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	18.1535	0.89684	0.0:0.0:1.0:0.0	.	.	.	.	X	2147	.	ENSP00000262189:Q2147X	Q	-	1	0	MLL3	151509439	1.000000	0.71417	0.953000	0.39169	0.792000	0.44763	8.479000	0.90431	2.513000	0.84729	0.655000	0.94253	CAA	MLL3	-	NULL	ENSG00000055609		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	403	0.00	0	G			151878506	151878506	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	239	18.71	55	SNP	0.997	A
MYO9A	4649	genome.wustl.edu	37	15	72252308	72252308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr15:72252308G>A	ENST00000356056.5	-	14	2588	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R706*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R687*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R706*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.R301*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	706	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAAAAAGCTCGGAGAATTGCC	0.423																																						dbGAP											0													78.0	75.0	76.0					15																	72252308		2199	4297	6496	-	-	-	SO:0001587	stop_gained	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2116C>T	15.37:g.72252308G>A	ENSP00000348349:p.Arg706*		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.R706*	ENST00000356056.5	37	c.2116	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	45	11.328800	0.99547	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	.	.	.	5.49	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9505	0.64113	0.0:0.0:0.5507:0.4493	.	.	.	.	X	706;706;687;687;706	.	ENSP00000261864:R687X	R	-	1	2	MYO9A	70039362	0.997000	0.39634	0.999000	0.59377	0.993000	0.82548	2.046000	0.41260	1.293000	0.44690	0.460000	0.39030	CGA	MYO9A	-	smart_Myosin_head_motor_dom	ENSG00000066933		0.423	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	115	0.00	0	G	NM_006901		72252308	72252308	-1	no_errors	ENST00000424560	ensembl	human	known	69_37n	nonsense	139	23.63	43	SNP	0.960	A
N4BP2	55728	genome.wustl.edu	37	4	40104198	40104198	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr4:40104198C>A	ENST00000261435.6	+	4	1149	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	245					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGATTCTCTTCTCAGTAGTTC	0.383																																						dbGAP											0													49.0	51.0	51.0					4																	40104198		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.733C>A	4.37:g.40104198C>A	ENSP00000261435:p.Leu245Ile		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.L245I	ENST00000261435.6	37	c.733	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959491	0.53400	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.79749	-1.3;0.82	5.53	4.67	0.58626	.	0.935645	0.09046	N	0.856514	T	0.68751	0.3035	L	0.32530	0.975	0.09310	N	1	P;P	0.42296	0.775;0.666	B;B	0.35655	0.207;0.102	T	0.54063	-0.8349	10	0.19590	T	0.45	-0.3681	9.4342	0.38628	0.1442:0.5424:0.3134:0.0	.	245;245	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	I	245;165;165	ENSP00000261435:L245I;ENSP00000422057:L165I	ENSP00000261435:L245I	L	+	1	0	N4BP2	39780593	0.003000	0.15002	0.969000	0.41365	0.884000	0.51177	0.857000	0.27831	1.512000	0.48834	0.650000	0.86243	CTC	N4BP2	-	NULL	ENSG00000078177		0.383	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	64	0.00	0	C	NM_018177		40104198	40104198	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	missense	62	36.73	36	SNP	0.123	A
PIK3CA	5290	genome.wustl.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	53	Substitution - Missense(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)											107.0	102.0	104.0					3																	178916876		1821	4078	5899	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R88Q	ENST00000263967.3	37	c.263	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom	ENSG00000121879		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	90	0.00	0	G			178916876	178916876	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	149	12.35	21	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	82	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	143	29.21	59	SNP	1.000	G
PRAF2	11230	genome.wustl.edu	37	X	48931491	48931491	+	Silent	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chrX:48931491G>A	ENST00000376390.4	-	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000376386.3_Silent_p.F52F|PRAF2_ENST00000491199.1_5'UTR	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	52					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GGCCGATGCCGAAGCAGAGAA	0.657																																						dbGAP											0													76.0	64.0	68.0					X																	48931491		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.156C>T	X.37:g.48931491G>A			B2RD20	Silent	SNP	pfam_Prenylated_rab_accept_PRA1	p.F52	ENST00000376390.4	37	c.156	CCDS14317.1	X																																																																																			PRAF2	-	pfam_Prenylated_rab_accept_PRA1	ENSG00000243279		0.657	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAF2	HGNC	protein_coding	OTTHUMT00000083415.2	76	0.00	0	G	NM_007213		48931491	48931491	-1	no_errors	ENST00000376390	ensembl	human	known	69_37n	silent	70	33.96	36	SNP	0.001	A
RETSAT	54884	genome.wustl.edu	37	2	85571790	85571790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:85571790G>A	ENST00000295802.4	-	7	1295	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	RETSAT_ENST00000263854.6_Nonsense_Mutation_p.R395*|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Nonsense_Mutation_p.R334*	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	395					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTGGTGCCTCGCAGGCAGATG	0.572																																						dbGAP											0													126.0	101.0	109.0					2																	85571790		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1183C>T	2.37:g.85571790G>A	ENSP00000295802:p.Arg395*		A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Nonsense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd	p.R395*	ENST00000295802.4	37	c.1183	CCDS1972.1	2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605364	0.46423	.	.	ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495	.	.	.	4.62	3.63	0.41609	.	0.841724	0.10749	N	0.638571	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.9348	10.1484	0.42778	0.0:0.0:0.5433:0.4567	.	.	.	.	X	395;395;334	.	ENSP00000263854:R395X	R	-	1	2	RETSAT	85425301	0.000000	0.05858	0.447000	0.26932	0.010000	0.07245	0.399000	0.20916	0.841000	0.35020	0.561000	0.74099	CGA	RETSAT	-	NULL	ENSG00000042445		0.572	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	HGNC	protein_coding	OTTHUMT00000252489.1	79	0.00	0	G	NM_017750		85571790	85571790	-1	no_errors	ENST00000295802	ensembl	human	known	69_37n	nonsense	52	16.13	10	SNP	0.003	A
SHF	90525	genome.wustl.edu	37	15	45470457	45470457	+	Silent	SNP	A	A	G			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr15:45470457A>G	ENST00000560734.1	-	2	546	c.546T>C	c.(544-546)acT>acC	p.T182T	SHF_ENST00000561091.1_5'UTR|SHF_ENST00000290894.8_Silent_p.T117T|SHF_ENST00000560540.1_Silent_p.T182T|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000318390.6_Silent_p.T174T|SHF_ENST00000560471.1_Silent_p.T182T|RP11-519G16.2_ENST00000560034.1_RNA					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		AGCCTTCGCCAGTCTCCTGAA	0.547																																						dbGAP											0													67.0	64.0	65.0					15																	45470457		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.546T>C	15.37:g.45470457A>G				Missense_Mutation	SNP	pfam_SH2,pfscan_SH2,prints_SH2	p.L1P	ENST00000560734.1	37	c.2		15																																																																																			SHF	-	NULL	ENSG00000138606		0.547	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	SHF	HGNC	protein_coding	OTTHUMT00000416338.1	89	0.00	0	A	NM_138356		45470457	45470457	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559566	ensembl	human	putative	69_37n	missense	92	26.40	33	SNP	0.550	G
SLC23A3	151295	genome.wustl.edu	37	2	220034618	220034618	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:220034618T>A	ENST00000409878.3	-	1	121	c.89A>T	c.(88-90)aAt>aTt	p.N30I	SLC23A3_ENST00000396775.3_5'UTR|SLC23A3_ENST00000455516.2_Missense_Mutation_p.N30I|SLC23A3_ENST00000295738.7_Missense_Mutation_p.N30I	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	30					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAGGGATTCTGGGGAGC	0.622																																						dbGAP											0													80.0	89.0	86.0					2																	220034618		1991	4164	6155	-	-	-	SO:0001583	missense	0			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.89A>T	2.37:g.220034618T>A	ENSP00000386473:p.Asn30Ile		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.N30I	ENST00000409878.3	37	c.89	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	T	0.597	-0.830449	0.02734	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.5	-2.95	0.05564	.	1.231680	0.05856	N	0.622220	T	0.13970	0.0338	N	0.08118	0	0.09310	N	0.999998	P;B;B	0.39964	0.697;0.031;0.112	B;B;B	0.33042	0.157;0.004;0.028	T	0.10941	-1.0608	9	.	.	.	.	4.2547	0.10712	0.1438:0.5275:0.1462:0.1826	.	30;30;30	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	I	30	ENSP00000295738:N30I;ENSP00000386473:N30I;ENSP00000406546:N30I;ENSP00000386989:N30I;ENSP00000388907:N30I	.	N	-	2	0	SLC23A3	219742862	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.759000	0.04761	-0.620000	0.05641	-0.899000	0.02877	AAT	SLC23A3	-	NULL	ENSG00000213901		0.622	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	132	0.00	0	T	NM_144712		220034618	220034618	-1	no_errors	ENST00000455516	ensembl	human	known	69_37n	missense	159	13.11	24	SNP	0.000	A
TBC1D19	55296	genome.wustl.edu	37	4	26750062	26750062	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr4:26750062G>A	ENST00000264866.4	+	19	1627	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	TBC1D19_ENST00000511789.1_Missense_Mutation_p.R385Q	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	450	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGGATGGTTCGAGCTTTCTCT	0.348																																						dbGAP											0													148.0	147.0	147.0					4																	26750062		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1349G>A	4.37:g.26750062G>A	ENSP00000264866:p.Arg450Gln		B9A6M0|Q9NUX1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R450Q	ENST00000264866.4	37	c.1349	CCDS3439.1	4	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027884	0.93518	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.11169	2.8;2.8	5.83	5.83	0.93111	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.37507	1.11	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.72982	0.954;0.979;0.979	T	0.00221	-1.1905	10	0.54805	T	0.06	-9.7657	20.1099	0.97909	0.0:0.0:1.0:0.0	.	385;450;450	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	Q	450;385	ENSP00000264866:R450Q;ENSP00000425569:R385Q	ENSP00000264866:R450Q	R	+	2	0	TBC1D19	26359160	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.230000	0.95299	2.753000	0.94483	0.585000	0.79938	CGA	TBC1D19	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109680		0.348	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	162	0.00	0	G	NM_018317		26750062	26750062	+1	no_errors	ENST00000264866	ensembl	human	known	69_37n	missense	178	26.45	64	SNP	0.998	A
TMEM132A	54972	genome.wustl.edu	37	11	60699241	60699241	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr11:60699241C>T	ENST00000453848.2	+	6	1255	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P367L			Q24JP5	T132A_HUMAN	transmembrane protein 132A	366						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTCACTCGCCCCGTCACGTGG	0.587																																						dbGAP											0													111.0	108.0	109.0					11																	60699241		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1097C>T	11.37:g.60699241C>T	ENSP00000405823:p.Pro366Leu		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.P367L	ENST00000453848.2	37	c.1100	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643921	0.47258	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.13196	2.61;2.61	4.61	4.61	0.57282	.	0.120578	0.36740	N	0.002440	T	0.22437	0.0541	L	0.28274	0.84	0.47407	D	0.999414	D;D;D;D	0.67145	0.992;0.996;0.996;0.988	P;D;D;P	0.64877	0.826;0.922;0.93;0.889	T	0.01480	-1.1344	10	0.87932	D	0	.	13.2444	0.60016	0.0:0.8404:0.1596:0.0	.	355;117;366;367	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	L	117;366;367	ENSP00000405823:P366L;ENSP00000005286:P367L	ENSP00000005286:P367L	P	+	2	0	TMEM132A	60455817	0.008000	0.16893	1.000000	0.80357	0.992000	0.81027	0.656000	0.24948	2.290000	0.77057	0.455000	0.32223	CCC	TMEM132A	-	NULL	ENSG00000006118		0.587	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	52	0.00	0	C	NM_017870		60699241	60699241	+1	no_errors	ENST00000005286	ensembl	human	known	69_37n	missense	81	20.59	21	SNP	0.942	T
USP34	9736	genome.wustl.edu	37	2	61571086	61571087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:61571086_61571087insT	ENST00000398571.2	-	16	2439_2440	c.2363_2364insA	c.(2362-2364)aatfs	p.N788fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	788					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AATCAGCCATATTTTTTTCTGA	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2364dupA	2.37:g.61571093_61571093dupT	ENSP00000381577:p.Asn788fs		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Ins	INS	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.N788fs	ENST00000398571.2	37	c.2364_2363	CCDS42686.1	2																																																																																			USP34	-	NULL	ENSG00000115464		0.401	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	90	0.00	0	-			61571086	61571087	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	frame_shift_ins	187	17.98	41	INS	1.000:1.000	T
TTN	7273	genome.wustl.edu	37	2	179436055	179436055	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0IP-01A-11D-A045-09	TCGA-B6-A0IP-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	94250f1c-d514-4dd2-b488-a93fbf111784	bddb8485-8070-44ea-b360-acd8934b5a5d	g.chr2:179436055T>A	ENST00000591111.1	-	276	70105	c.69881A>T	c.(69880-69882)gAt>gTt	p.D23294V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15995V|TTN_ENST00000460472.2_Missense_Mutation_p.D15870V|TTN_ENST00000342992.6_Missense_Mutation_p.D22367V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16062V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D24935V			Q8WZ42	TITIN_HUMAN	titin	23294	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCCTCCATCACTGATTGG	0.448																																						dbGAP											0													132.0	125.0	127.0					2																	179436055		1944	4149	6093	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69881A>T	2.37:g.179436055T>A	ENSP00000465570:p.Asp23294Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D22367V	ENST00000591111.1	37	c.67100		2	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604349	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.39	5.39	0.77823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81079	0.4748	M	0.91768	3.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85746	0.1340	9	0.87932	D	0	.	15.6971	0.77509	0.0:0.0:0.0:1.0	.	15870;15995;16062;23294	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	22367;15870;16062;15995;15868	ENSP00000343764:D22367V;ENSP00000434586:D15870V;ENSP00000340554:D16062V;ENSP00000352154:D15995V	ENSP00000340554:D16062V	D	-	2	0	TTN	179144301	1.000000	0.71417	0.997000	0.53966	0.657000	0.38888	7.997000	0.88414	2.171000	0.68590	0.528000	0.53228	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	52	0.00	0	T	NM_133378		179436055	179436055	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	119	25.62	41	SNP	1.000	A
