#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
ANKRD24	170961	genome.wustl.edu	37	19	4212477	4212477	+	Silent	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr19:4212477G>A	ENST00000600132.1	+	14	1341	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	ANKRD24_ENST00000318934.4_Silent_p.P355P|ANKRD24_ENST00000262970.5_Silent_p.P445P|ANKRD24_ENST00000595096.1_3'UTR	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	355								p.P355P(1)|p.P445P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GTCAGTCCCCGGAGGCCAGCT	0.632																																						dbGAP											2	Substitution - coding silent(2)	breast(2)																																								-	-	-	SO:0001819	synonymous_variant	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1065G>A	19.37:g.4212477G>A			O75268|O95781	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P445	ENST00000600132.1	37	c.1335	CCDS45925.1	19																																																																																			ANKRD24	-	NULL	ENSG00000089847		0.632	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	368	0.00	0	G	XM_114000		4212477	4212477	+1	no_errors	ENST00000262970	ensembl	human	known	69_37n	silent	290	15.20	52	SNP	0.017	A
AP4E1	23431	genome.wustl.edu	37	15	51223146	51223146	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr15:51223146C>T	ENST00000261842.5	+	7	953	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	AP4E1_ENST00000560508.1_Missense_Mutation_p.L208F	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	283					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.L283F(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATACTGGGACTTCTAGGAAA	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											109.0	110.0	110.0					15																	51223146		2196	4294	6490	-	-	-	SO:0001583	missense	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.847C>T	15.37:g.51223146C>T	ENSP00000261842:p.Leu283Phe		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.L283F	ENST00000261842.5	37	c.847	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625100	0.46840	.	.	ENSG00000081014	ENST00000261842	T	0.26067	1.76	6.02	6.02	0.97574	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.063941	0.64402	D	0.000005	T	0.38026	0.1025	M	0.76574	2.34	0.80722	D	1	B;P	0.38978	0.046;0.652	B;P	0.44897	0.066;0.463	T	0.13045	-1.0524	10	0.54805	T	0.06	-14.929	12.7863	0.57507	0.0:0.9261:0.0:0.0739	.	283;283	B4DM48;Q9UPM8	.;AP4E1_HUMAN	F	283	ENSP00000261842:L283F	ENSP00000261842:L283F	L	+	1	0	AP4E1	49010438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.088000	0.41663	2.865000	0.98341	0.655000	0.94253	CTT	AP4E1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.388	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	169	0.00	0	C			51223146	51223146	+1	no_errors	ENST00000261842	ensembl	human	known	69_37n	missense	84	26.32	30	SNP	1.000	T
ATG2B	55102	genome.wustl.edu	37	14	96773188	96773188	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr14:96773188C>T	ENST00000359933.4	-	30	5262	c.4369G>A	c.(4369-4371)Gag>Aag	p.E1457K	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1457					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E1457K(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCCCACTCTCGTCAGGAAAC	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	66.0	68.0					14																	96773188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4369G>A	14.37:g.96773188C>T	ENSP00000353010:p.Glu1457Lys		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E1457K	ENST00000359933.4	37	c.4369	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	36	5.696945	0.96802	.	.	ENSG00000066739	ENST00000359933	T	0.64991	-0.13	5.59	5.59	0.84812	.	0.301944	0.35179	N	0.003395	T	0.76572	0.4006	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	P	0.55222	0.771	T	0.79581	-0.1744	10	0.72032	D	0.01	.	19.607	0.95585	0.0:1.0:0.0:0.0	.	1457	Q96BY7	ATG2B_HUMAN	K	1457	ENSP00000353010:E1457K	ENSP00000261834:E101K	E	-	1	0	ATG2B	95842941	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.184000	0.77705	2.630000	0.89119	0.514000	0.50259	GAG	ATG2B	-	NULL	ENSG00000066739		0.443	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	139	0.00	0	C	NM_018036		96773188	96773188	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	missense	137	15.95	26	SNP	1.000	T
ATP6V1B1	525	genome.wustl.edu	37	2	71170640	71170640	+	Intron	SNP	G	G	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr2:71170640G>T	ENST00000234396.4	+	2	191				AC007040.7_ENST00000447639.1_RNA|ATP6V1B1_ENST00000412314.1_Intron|AC007040.11_ENST00000606025.1_Intron|AC007040.7_ENST00000422761.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1						ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						AGCAATGGTGGCTGGCCCTGT	0.662																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.119-148G>T	2.37:g.71170640G>T			Q53FY0|Q6P4H6	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_ATPase_F1/A1-cplx_a/bsu_N	p.A8S	ENST00000234396.4	37	c.22	CCDS1912.1	2	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052951	0.19907	.	.	ENSG00000116039	ENST00000454446	D	0.87179	-2.22	4.14	2.24	0.28232	.	.	.	.	.	T	0.81235	0.4780	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69483	-0.5133	6	0.17832	T	0.49	.	6.0132	0.19588	0.2551:0.0:0.7449:0.0	.	.	.	.	S	8	ENSP00000408361:A8S	ENSP00000408361:A8S	A	+	1	0	ATP6V1B1	71024148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.050000	0.41297	0.466000	0.27193	0.555000	0.69702	GCT	ATP6V1B1	-	NULL	ENSG00000116039		0.662	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	57	0.00	0	G	NM_001692		71170640	71170640	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000454446	ensembl	human	novel	69_37n	missense	25	60.32	38	SNP	1.000	T
CFP	5199	genome.wustl.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chrX:47485822C>T	ENST00000396992.3	-	7	1157	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_ENST00000377005.2_Missense_Mutation_p.R346H|CFP_ENST00000247153.3_Missense_Mutation_p.R346H|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	346	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R346H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	45.0	48.0					X																	47485822		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1037G>A	X.37:g.47485822C>T	ENSP00000380189:p.Arg346His		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R346H	ENST00000396992.3	37	c.1037	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596291	0.66332	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.80824	-1.42;-1.42;-1.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	M	0.92026	3.265	0.44337	D	0.997221	D;D	0.89917	1.0;0.976	D;P	0.87578	0.998;0.873	D	0.92844	0.6291	10	0.87932	D	0	.	13.2457	0.60022	0.0:1.0:0.0:0.0	.	282;346	B3KVK6;P27918	.;PROP_HUMAN	H	346	ENSP00000380189:R346H;ENSP00000247153:R346H;ENSP00000366204:R346H	ENSP00000247153:R346H	R	-	2	0	CFP	47370766	0.997000	0.39634	0.150000	0.22450	0.883000	0.51084	4.904000	0.63279	2.279000	0.76181	0.468000	0.43344	CGC	CFP	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000126759		0.622	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	179	0.00	0	C	NM_002621		47485822	47485822	-1	no_errors	ENST00000247153	ensembl	human	known	69_37n	missense	121	13.57	19	SNP	0.467	T
COG5	10466	genome.wustl.edu	37	7	106898812	106898812	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr7:106898812T>C	ENST00000347053.3	-	15	1735	c.1685A>G	c.(1684-1686)gAt>gGt	p.D562G	COG5_ENST00000297135.3_Missense_Mutation_p.D562G|COG5_ENST00000393603.2_Missense_Mutation_p.D562G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	562					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.D562G(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTGACTTGCATCTCCTTGTGT	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											174.0	159.0	164.0					7																	106898812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1685A>G	7.37:g.106898812T>C	ENSP00000334703:p.Asp562Gly		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.D562G	ENST00000347053.3	37	c.1685	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624859	0.66901	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.57752	0.38;0.38;0.38	5.84	5.84	0.93424	.	0.096494	0.64402	D	0.000001	T	0.56659	0.2000	M	0.74881	2.28	0.80722	D	1	B;P	0.40660	0.418;0.726	B;B	0.41174	0.134;0.349	T	0.57871	-0.7736	10	0.33141	T	0.24	-19.313	15.2128	0.73238	0.0:0.0:0.0:1.0	.	562;562	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	562	ENSP00000334703:D562G;ENSP00000297135:D562G;ENSP00000377228:D562G	ENSP00000297135:D562G	D	-	2	0	COG5	106686048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.769000	0.74985	2.228000	0.72767	0.533000	0.62120	GAT	COG5	-	NULL	ENSG00000164597		0.403	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	369	0.00	0	T			106898812	106898812	-1	no_errors	ENST00000297135	ensembl	human	known	69_37n	missense	142	52.49	158	SNP	1.000	C
COMP	1311	genome.wustl.edu	37	19	18898318	18898318	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr19:18898318C>T	ENST00000222271.2	-	10	1161	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	COMP_ENST00000542601.2_Missense_Mutation_p.D340N|COMP_ENST00000425807.1_Missense_Mutation_p.D320N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	373					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.D373N(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCGATGTCGTCGTCGCACGCA	0.697																																						dbGAP											1	Substitution - Missense(1)	breast(1)											136.0	118.0	124.0					19																	18898318		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1117G>A	19.37:g.18898318C>T	ENSP00000222271:p.Asp373Asn		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D373N	ENST00000222271.2	37	c.1117	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480474	0.26598	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98178	-4.77;-4.77;-4.77	3.33	3.33	0.38152	.	0.329641	0.27052	U	0.021163	D	0.95519	0.8544	L	0.53671	1.685	0.49299	D	0.999779	B;B	0.14805	0.002;0.011	B;B	0.20577	0.006;0.03	D	0.91616	0.5307	10	0.15952	T	0.53	-19.6518	7.9053	0.29759	0.0:0.8798:0.0:0.1202	.	320;373	B4DKJ3;P49747	.;COMP_HUMAN	N	340;373;320;360	ENSP00000439156:D340N;ENSP00000222271:D373N;ENSP00000403792:D320N	ENSP00000222271:D373N	D	-	1	0	COMP	18759318	0.998000	0.40836	1.000000	0.80357	0.834000	0.47266	2.971000	0.49248	1.874000	0.54306	0.313000	0.20887	GAC	COMP	-	pfam_Thrombospondin_3-like_rpt	ENSG00000105664		0.697	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	36	0.00	0	C	NM_000095		18898318	18898318	-1	no_errors	ENST00000222271	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	T
CUL7	9820	genome.wustl.edu	37	6	43005481	43005481	+	Missense_Mutation	SNP	C	C	T	rs35893653		TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr6:43005481C>T	ENST00000265348.3	-	26	5127	c.5042G>A	c.(5041-5043)cGg>cAg	p.R1681Q	CUL7_ENST00000535468.1_Missense_Mutation_p.R1765Q|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1681					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R1681Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCACACCCCGGGAGCGAAT	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											30.0	29.0	29.0					6																	43005481		2201	4295	6496	-	-	-	SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.5042G>A	6.37:g.43005481C>T	ENSP00000265348:p.Arg1681Gln		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R1765Q	ENST00000265348.3	37	c.5294	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570761	0.86542	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80123	-1.32;-1.34	5.44	5.44	0.79542	.	0.730458	0.12586	N	0.455985	T	0.77974	0.4211	L	0.44542	1.39	0.33588	D	0.600697	P;P;P;D	0.89917	0.887;0.921;0.921;1.0	B;B;B;P	0.58820	0.219;0.153;0.153;0.846	T	0.78054	-0.2354	10	0.72032	D	0.01	-9.7989	9.1479	0.36944	0.0:0.8711:0.0:0.1289	.	1765;1681;1765;1681	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	Q	1681;1765	ENSP00000265348:R1681Q;ENSP00000438788:R1765Q	ENSP00000265348:R1681Q	R	-	2	0	CUL7	43113459	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.439000	0.52878	2.723000	0.93209	0.655000	0.94253	CGG	CUL7	-	NULL	ENSG00000044090		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	158	0.00	0	C	NM_014780		43005481	43005481	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	missense	114	13.53	18	SNP	0.931	T
CYB5R2	51700	genome.wustl.edu	37	11	7694105	7694105	+	5'UTR	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr11:7694105C>T	ENST00000533558.1	-	0	508				CYB5R2_ENST00000524790.1_5'UTR|CYB5R2_ENST00000299498.6_5'UTR|CYB5R2_ENST00000299497.9_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2						oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGATGGTCAGGAGCAGGG	0.597																																						dbGAP											0													88.0	71.0	77.0					11																	7694105		2201	4296	6497	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.-49G>A	11.37:g.7694105C>T			Q9BVA3|Q9UF68|Q9UHJ0	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase	p.L44	ENST00000533558.1	37	c.132	CCDS7780.1	11																																																																																			CYB5R2	-	NULL	ENSG00000166394		0.597	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	115	0.00	0	C	NM_016229		7694105	7694105	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000524608	ensembl	human	putative	69_37n	silent	52	37.35	31	SNP	0.011	T
DMBT1	1755	genome.wustl.edu	37	10	124377690	124377690	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr10:124377690G>T	ENST00000338354.3	+	38	4768	c.4662G>T	c.(4660-4662)tgG>tgT	p.W1554C	DMBT1_ENST00000368909.3_Missense_Mutation_p.W1554C|DMBT1_ENST00000368955.3_Missense_Mutation_p.W1544C|DMBT1_ENST00000330163.4_Missense_Mutation_p.W926C|DMBT1_ENST00000368956.2_Missense_Mutation_p.W926C|DMBT1_ENST00000344338.3_Missense_Mutation_p.W1544C|DMBT1_ENST00000359586.6_Missense_Mutation_p.W405C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1554	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.W1554C(2)|p.W1683C(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGTGGCTGGGCCATGTCAG	0.597																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											3	Substitution - Missense(3)	breast(3)											188.0	196.0	193.0					10																	124377690		2005	4201	6206	-	-	-	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4662G>T	10.37:g.124377690G>T	ENSP00000342210:p.Trp1554Cys		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.W1683C	ENST00000338354.3	37	c.5049		10	.	.	.	.	.	.	.	.	.	.	G	5.443	0.266880	0.10294	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.12	-0.435	0.12279	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.506690	0.05666	U	0.587765	T	0.54631	0.1870	L	0.48986	1.54	0.22127	N	0.999349	P;D;D;D;P;D	0.89917	0.948;1.0;1.0;1.0;0.948;1.0	P;D;D;D;P;D	0.91635	0.613;0.992;0.999;0.992;0.613;0.997	T	0.44452	-0.9327	10	0.52906	T	0.07	.	5.6194	0.17450	0.1652:0.0:0.4015:0.4333	.	405;803;1683;926;1544;1554	F8WEF7;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	1554;1683;1554;1554;1554;1554;926;1544;926;926;1554;1544;926;405	ENSP00000342210:W1554C;ENSP00000343175:W1544C;ENSP00000327747:W926C;ENSP00000357905:W1554C;ENSP00000357951:W1544C;ENSP00000357952:W926C;ENSP00000352593:W405C	ENSP00000331522:W926C	W	+	3	0	DMBT1	124367680	0.000000	0.05858	0.428000	0.26697	0.265000	0.26407	-1.198000	0.03035	0.292000	0.22492	0.549000	0.68633	TGG	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000187908		0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	304	0.00	0	G	NM_004406		124377690	124377690	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	missense	170	14.57	29	SNP	0.001	T
DNAH10	196385	genome.wustl.edu	37	12	124341720	124341720	+	Missense_Mutation	SNP	G	G	A	rs557513283		TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr12:124341720G>A	ENST00000409039.3	+	36	6227	c.6202G>A	c.(6202-6204)Gtc>Atc	p.V2068I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2068					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2068I(1)|p.V660I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGCCCTCGCGTCCGCTACCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		13626	0.0		0.0	False		,,,				2504	0.001					dbGAP											2	Substitution - Missense(2)	breast(2)											135.0	138.0	137.0					12																	124341720		2078	4205	6283	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6202G>A	12.37:g.124341720G>A	ENSP00000386770:p.Val2068Ile		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.V2068I	ENST00000409039.3	37	c.6202	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883920	0.33255	.	.	ENSG00000197653	ENST00000409039	T	0.22134	1.97	5.75	5.75	0.90469	.	0.000000	0.64402	U	0.000007	T	0.33789	0.0875	L	0.50919	1.6	0.80722	D	1	D	0.65815	0.995	P	0.52159	0.691	T	0.00555	-1.1673	10	0.33940	T	0.23	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	2068	Q8IVF4	DYH10_HUMAN	I	2068	ENSP00000386770:V2068I	ENSP00000386770:V2068I	V	+	1	0	DNAH10	122907673	1.000000	0.71417	0.763000	0.31416	0.165000	0.22458	9.725000	0.98778	2.725000	0.93324	0.655000	0.94253	GTC	DNAH10	-	NULL	ENSG00000197653		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	98	0.00	0	G			124341720	124341720	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	61	32.22	29	SNP	1.000	A
DOCK1	1793	genome.wustl.edu	37	10	128908590	128908590	+	Silent	SNP	C	C	T	rs35102871		TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr10:128908590C>T	ENST00000280333.6	+	25	2641	c.2532C>T	c.(2530-2532)atC>atT	p.I844I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	844					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGATCGAAATCGTCCACAGTG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		21641	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													83.0	78.0	80.0					10																	128908590		1922	4148	6070	-	-	-	SO:0001819	synonymous_variant	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2532C>T	10.37:g.128908590C>T			A9Z1Z5	Silent	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.I844	ENST00000280333.6	37	c.2532		10																																																																																			DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.428	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	178	0.00	0	C	NM_001380		128908590	128908590	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	silent	76	12.64	11	SNP	0.991	T
EPS15L1	58513	genome.wustl.edu	37	19	16514562	16514562	+	Silent	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr19:16514562C>T	ENST00000248070.6	-	15	1747	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	EPS15L1_ENST00000594975.1_Silent_p.T536T|EPS15L1_ENST00000597937.1_Silent_p.T536T|EPS15L1_ENST00000455140.2_Silent_p.T536T|EPS15L1_ENST00000535753.2_Silent_p.T536T|EPS15L1_ENST00000602009.1_Silent_p.T382T	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	536					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T536T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTCGTCTTGCGTTGACTTCA	0.587																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											149.0	127.0	135.0					19																	16514562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1608G>A	19.37:g.16514562C>T			A2RRF3|A5PL29|B4DKA3	Silent	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.T536	ENST00000248070.6	37	c.1608	CCDS32944.1	19																																																																																			EPS15L1	-	NULL	ENSG00000127527		0.587	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	121	0.00	0	C	NM_021235		16514562	16514562	-1	no_errors	ENST00000455140	ensembl	human	known	69_37n	silent	98	12.50	14	SNP	0.049	T
EVPL	2125	genome.wustl.edu	37	17	74004932	74004932	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr17:74004932G>A	ENST00000301607.3	-	22	4607	c.4354C>T	c.(4354-4356)Cgg>Tgg	p.R1452W	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.R1474W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1452	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.R1452W(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTGGGAGGCCGCTTCTCGAGC	0.637																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	95.0	95.0					17																	74004932		2203	4300	6503	-	-	-	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4354C>T	17.37:g.74004932G>A	ENSP00000301607:p.Arg1452Trp		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1452W	ENST00000301607.3	37	c.4354	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435556	0.43224	.	.	ENSG00000167880	ENST00000301607	T	0.47869	0.83	5.1	4.12	0.48240	.	0.147648	0.46145	D	0.000319	T	0.60222	0.2252	M	0.72118	2.19	0.31539	N	0.660217	D;D	0.71674	0.996;0.998	P;P	0.56648	0.803;0.727	T	0.69383	-0.5160	10	0.66056	D	0.02	-46.4501	12.2023	0.54333	0.0:0.0:0.4936:0.5064	.	1474;1452	B7ZLH8;Q92817	.;EVPL_HUMAN	W	1452	ENSP00000301607:R1452W	ENSP00000301607:R1452W	R	-	1	2	EVPL	71516527	1.000000	0.71417	0.865000	0.33974	0.627000	0.37826	3.558000	0.53749	1.100000	0.41517	0.655000	0.94253	CGG	EVPL	-	NULL	ENSG00000167880		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	91	0.00	0	G	NM_001988		74004932	74004932	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	missense	56	55.38	72	SNP	0.963	A
FAT3	120114	genome.wustl.edu	37	11	92616055	92616055	+	Missense_Mutation	SNP	G	G	A	rs553837148	byFrequency	TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr11:92616055G>A	ENST00000298047.6	+	23	12450	c.12433G>A	c.(12433-12435)Gct>Act	p.A4145T	FAT3_ENST00000525166.1_Missense_Mutation_p.A3995T|FAT3_ENST00000533797.1_Missense_Mutation_p.A480T|FAT3_ENST00000409404.2_Missense_Mutation_p.A4145T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4145					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A4145T(2)|p.A720T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATATCCAGGCTGGCCACTC	0.607										TCGA Ovarian(4;0.039)			G|||	2	0.000399361	0.0	0.0	5008	,	,		14935	0.0		0.0	False		,,,				2504	0.002					dbGAP											3	Substitution - Missense(3)	breast(3)											62.0	82.0	75.0					11																	92616055		2057	4196	6253	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12433G>A	11.37:g.92616055G>A	ENSP00000298047:p.Ala4145Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.A4145T	ENST00000298047.6	37	c.12433		11	.	.	.	.	.	.	.	.	.	.	G	31	5.067544	0.93898	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86030	-0.88;-0.89;-0.88;-2.06	5.85	5.85	0.93711	.	.	.	.	.	T	0.78381	0.4274	L	0.31420	0.93	0.80722	D	1	P;P	0.46784	0.884;0.76	B;B	0.39152	0.292;0.269	T	0.75714	-0.3221	9	0.17369	T	0.5	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4145;4145	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4145;4145;3995;480	ENSP00000298047:A4145T;ENSP00000387040:A4145T;ENSP00000432586:A3995T;ENSP00000436399:A480T	ENSP00000298047:A4145T	A	+	1	0	FAT3	92255703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.431000	0.66507	2.770000	0.95276	0.655000	0.94253	GCT	FAT3	-	NULL	ENSG00000165323		0.607	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		108	0.00	0	G	NM_001008781		92616055	92616055	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	72	12.20	10	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8111513	8111514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr10:8111513_8111514insG	ENST00000346208.3	+	5	1454_1455	c.999_1000insG	c.(1000-1002)gggfs	p.G334fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.G335fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	334					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N334fs*19(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGAATGCCAATGGGGACCCTGT	0.569			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1003dupG	10.37:g.8111517_8111517dupG	ENSP00000341619:p.Gly334fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.D335fs	ENST00000346208.3	37	c.1002_1003	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.569	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	158	0.00	0	-	NM_001002295		8111513	8111514	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	254	24.85	84	INS	0.859:1.000	G
GPR114	221188	genome.wustl.edu	37	16	57597859	57597859	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr16:57597859T>A	ENST00000340339.4	+	5	920	c.397T>A	c.(397-399)Tgt>Agt	p.C133S	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.C133S	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	133					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C133S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCGGCTCATCTGTATCTACTT	0.647																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	72.0	71.0					16																	57597859		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.397T>A	16.37:g.57597859T>A	ENSP00000342981:p.Cys133Ser		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.C133S	ENST00000340339.4	37	c.397	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	T	16.60	3.169638	0.57584	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.28454	1.61;1.61	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000014	T	0.51568	0.1682	M	0.66939	2.045	0.48185	D	0.999606	D;D	0.89917	0.993;1.0	D;D	0.83275	0.928;0.996	T	0.53844	-0.8381	10	0.62326	D	0.03	.	11.1319	0.48351	0.0:0.0:0.0:1.0	.	133;133	B4E148;Q8IZF4	.;GP114_HUMAN	S	133	ENSP00000342981:C133S;ENSP00000290823:C133S	ENSP00000342981:C133S	C	+	1	0	GPR114	56155360	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	3.942000	0.56614	1.886000	0.54624	0.402000	0.26972	TGT	GPR114	-	NULL	ENSG00000159618		0.647	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	68	0.00	0	T	NM_153837		57597859	57597859	+1	no_errors	ENST00000340339	ensembl	human	known	69_37n	missense	27	52.63	30	SNP	1.000	A
GRSF1	2926	genome.wustl.edu	37	4	71697363	71697363	+	Silent	SNP	C	C	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr4:71697363C>A	ENST00000254799.6	-	5	960	c.843G>T	c.(841-843)gtG>gtT	p.V281V	GRSF1_ENST00000502323.1_Silent_p.V119V|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Silent_p.V163V|GRSF1_ENST00000439371.1_Silent_p.V119V	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	281	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V281V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TATAGTCCATCACAAAAGTAA	0.398																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											103.0	96.0	98.0					4																	71697363		1842	4089	5931	-	-	-	SO:0001819	synonymous_variant	0			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.843G>T	4.37:g.71697363C>A			B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Nonstop_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.*218L	ENST00000254799.6	37	c.653	CCDS47069.1	4	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117203	0.20795	.	.	ENSG00000132463	ENST00000514161	.	.	.	5.19	-1.95	0.07548	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999881	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.7333	1.2686	0.02016	0.2141:0.3561:0.1982:0.2316	.	.	.	.	L	218	.	.	X	-	2	2	GRSF1	71916227	0.006000	0.16342	0.983000	0.44433	0.994000	0.84299	-1.100000	0.03339	-0.386000	0.07821	0.591000	0.81541	TGA	GRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000132463		0.398	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GRSF1	HGNC	protein_coding	OTTHUMT00000362642.1	164	0.00	0	C	NM_002092		71697363	71697363	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000514161	ensembl	human	putative	69_37n	nonstop	189	10.43	22	SNP	0.543	A
HSPG2	3339	genome.wustl.edu	37	1	22174253	22174253	+	Missense_Mutation	SNP	C	C	T	rs190732238		TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr1:22174253C>T	ENST00000374695.3	-	61	8033	c.7954G>A	c.(7954-7956)Gtg>Atg	p.V2652M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2652	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.V2652M(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGCGACCACGCAGTTCAGA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19077	0.0		0.001	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	prostate(1)|breast(1)											50.0	49.0	49.0					1																	22174253		2203	4300	6503	-	-	-	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7954G>A	1.37:g.22174253C>T	ENSP00000363827:p.Val2652Met		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.V2652M	ENST00000374695.3	37	c.7954	CCDS30625.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.27	2.187583	0.38609	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.67171	-0.25;-0.25	5.13	3.08	0.35506	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33127	N	0.005259	T	0.60932	0.2307	L	0.61036	1.89	0.33718	D	0.616654	B;B	0.26602	0.027;0.154	B;B	0.32090	0.041;0.14	T	0.68534	-0.5383	10	0.48119	T	0.1	.	7.1718	0.25722	0.0:0.6175:0.2886:0.0939	.	592;2652	Q59EG0;P98160	.;PGBM_HUMAN	M	2652;67	ENSP00000363827:V2652M;ENSP00000396310:V67M	ENSP00000363827:V2652M	V	-	1	0	HSPG2	22046840	0.000000	0.05858	0.859000	0.33776	0.825000	0.46686	-0.831000	0.04405	2.389000	0.81357	0.655000	0.94253	GTG	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000142798		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	46	0.00	0	C	NM_005529		22174253	22174253	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	missense	53	10.17	6	SNP	0.717	T
ISL1	3670	genome.wustl.edu	37	5	50689391	50689391	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr5:50689391T>C	ENST00000230658.7	+	6	1582	c.997T>C	c.(997-999)Tct>Cct	p.S333P	ISL1_ENST00000511384.1_Missense_Mutation_p.S310P	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	333	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.S333P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ATCAATGTCCTCTCAACTTCC	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	109.0	110.0					5																	50689391		1889	4107	5996	-	-	-	SO:0001583	missense	0			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.997T>C	5.37:g.50689391T>C	ENSP00000230658:p.Ser333Pro		P20663|P47894	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.S333P	ENST00000230658.7	37	c.997	CCDS43314.1	5	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613707	0.66672	.	.	ENSG00000016082	ENST00000230658;ENST00000511384	D;D	0.86297	-2.1;-2.03	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92971	0.7763	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.93192	0.6584	10	0.54805	T	0.06	.	16.2628	0.82557	0.0:0.0:0.0:1.0	.	333	P61371	ISL1_HUMAN	P	333;310	ENSP00000230658:S333P;ENSP00000422676:S310P	ENSP00000230658:S333P	S	+	1	0	ISL1	50725148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.983000	0.88140	2.233000	0.73108	0.482000	0.46254	TCT	ISL1	-	NULL	ENSG00000016082		0.428	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	309	0.00	0	T	NM_002202		50689391	50689391	+1	no_errors	ENST00000230658	ensembl	human	known	69_37n	missense	159	18.88	37	SNP	1.000	C
KIAA1211L	343990	genome.wustl.edu	37	2	99438563	99438564	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr2:99438563_99438564insA	ENST00000397899.2	-	7	2503_2504	c.2172_2173insT	c.(2170-2175)aaggagfs	p.E725fs		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	725																	CACTTCTCCTCCTTCGGGAGCA	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2172_2173insT	2.37:g.99438563_99438564insA	ENSP00000380996:p.Glu725fs			Frame_Shift_Ins	INS	NULL	p.E724fs	ENST00000397899.2	37	c.2173_2172	CCDS42720.1	2																																																																																			KIAA1211L	-	NULL	ENSG00000196872		0.663	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	16	0.00	0	-	NM_207362		99438563	99438564	-1	no_errors	ENST00000397899	ensembl	human	known	69_37n	frame_shift_ins	9	66.67	18	INS	0.064:0.004	A
KRTAP19-6	337973	genome.wustl.edu	37	21	31914098	31914098	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr21:31914098C>T	ENST00000334046.5	-	1	85	c.55G>A	c.(55-57)Ggt>Agt	p.G19S		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	19						intermediate filament (GO:0005882)		p.G19S(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						CCCAGACCACCAAAGCCTCCA	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											106.0	111.0	109.0					21																	31914098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.55G>A	21.37:g.31914098C>T	ENSP00000375107:p.Gly19Ser		Q3LI71	Missense_Mutation	SNP	pfam_KRTAP	p.G19S	ENST00000334046.5	37	c.55	CCDS13598.1	21	.	.	.	.	.	.	.	.	.	.	c	9.127	1.010535	0.19277	.	.	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.33654	1.4	4.55	-5.9	0.02275	.	0.346542	0.20330	N	0.094453	T	0.19525	0.0469	.	.	.	0.09310	N	1	B	0.21071	0.051	B	0.24541	0.054	T	0.10800	-1.0614	9	0.87932	D	0	.	2.6937	0.05128	0.1168:0.306:0.1154:0.4619	.	19	Q3LI70	KR196_HUMAN	S	19	ENSP00000375107:G19S	ENSP00000375107:G19S	G	-	1	0	KRTAP19-6	30835969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.223000	0.09177	-1.042000	0.03262	-1.128000	0.01989	GGT	KRTAP19-6	-	pfam_KRTAP	ENSG00000186925		0.517	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-6	HGNC	protein_coding	OTTHUMT00000128231.4	447	0.00	0	C			31914098	31914098	-1	no_errors	ENST00000334046	ensembl	human	known	69_37n	missense	255	21.88	72	SNP	0.000	T
LZTS1	11178	genome.wustl.edu	37	8	20112587	20112587	+	Missense_Mutation	SNP	G	G	A	rs201531859		TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr8:20112587G>A	ENST00000381569.1	-	2	463	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R36W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R36W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	36					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R36W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCGGAATACCGGTTGAGCTTC	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											78.0	79.0	79.0					8																	20112587		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.106C>T	8.37:g.20112587G>A	ENSP00000370981:p.Arg36Trp		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	pfam_Fez1	p.R36W	ENST00000381569.1	37	c.106	CCDS6015.1	8	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301402	0.60195	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248;ENST00000334294	T;T;T	0.28454	1.95;1.95;1.61	5.98	3.99	0.46301	.	0.055986	0.64402	D	0.000001	T	0.45836	0.1362	L	0.42245	1.32	0.28659	N	0.906235	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.928	T	0.39522	-0.9610	10	0.87932	D	0	-39.7233	13.1494	0.59480	0.0:0.0:0.6378:0.3622	.	36;36	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	36	ENSP00000370981:R36W;ENSP00000265801:R36W;ENSP00000429263:R36W	ENSP00000265801:R36W	R	-	1	2	LZTS1	20156867	1.000000	0.71417	0.246000	0.24233	0.702000	0.40608	1.903000	0.39858	1.484000	0.48361	0.650000	0.86243	CGG	LZTS1	-	NULL	ENSG00000061337		0.577	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	111	0.00	0	G	NM_021020		20112587	20112587	-1	no_errors	ENST00000265801	ensembl	human	known	69_37n	missense	15	67.39	31	SNP	0.385	A
MAST4	375449	genome.wustl.edu	37	5	66438047	66438047	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr5:66438047G>A	ENST00000403625.2	+	20	2894	c.2599G>A	c.(2599-2601)Gac>Aac	p.D867N	MAST4_ENST00000403666.1_Missense_Mutation_p.D678N|MAST4_ENST00000404260.3_Missense_Mutation_p.D870N|MAST4_ENST00000261569.7_Missense_Mutation_p.D673N|MAST4_ENST00000405643.1_Missense_Mutation_p.D688N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	870	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D870N(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATCTGAGGATGACACAAGTTA	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											106.0	101.0	103.0					5																	66438047		1870	4101	5971	-	-	-	SO:0001583	missense	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2599G>A	5.37:g.66438047G>A	ENSP00000385727:p.Asp867Asn		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.D870N	ENST00000403625.2	37	c.2608	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.173293	0.94807	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.42	5.42	0.78866	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.987;0.996;0.996	T	0.75491	-0.3299	10	0.87932	D	0	-31.5599	19.5705	0.95413	0.0:0.0:1.0:0.0	.	688;870;673;678	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	N	870;867;678;688;688;673;673	ENSP00000385048:D870N;ENSP00000385727:D867N;ENSP00000384313:D678N;ENSP00000384099:D688N;ENSP00000261569:D673N	ENSP00000261569:D673N	D	+	1	0	MAST4	66473803	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.715000	0.92844	0.655000	0.94253	GAC	MAST4	-	superfamily_Kinase-like_dom	ENSG00000069020		0.353	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	196	0.00	0	G			66438047	66438047	+1	no_errors	ENST00000404260	ensembl	human	known	69_37n	missense	82	16.33	16	SNP	1.000	A
MGAT4B	11282	genome.wustl.edu	37	5	179225212	179225212	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr5:179225212G>A	ENST00000292591.7	-	14	1926	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	MGAT4B_ENST00000337755.5_Missense_Mutation_p.R541C|MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	526					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R541C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCGAGAGGCGCAGTGCTTCC	0.662																																					GBM(13;414 434 4098 22176 23230)	dbGAP											1	Substitution - Missense(1)	breast(1)											27.0	28.0	28.0					5																	179225212		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1576C>T	5.37:g.179225212G>A	ENSP00000292591:p.Arg526Cys		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.R541C	ENST00000292591.7	37	c.1621	CCDS4448.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.517360|3.517360	0.64634|0.64634	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000520875|ENST00000337755;ENST00000292591;ENST00000519836	.|T;T	.|0.51325	.|0.71;0.74	4.87|4.87	4.0|4.0	0.46444|0.46444	.|.	.|0.061437	.|0.64402	.|N	.|0.000003	T|T	0.49609|0.49609	0.1567|0.1567	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23128	.|0.013;0.08;0.056	.|B;B;B	.|0.17722	.|0.008;0.019;0.012	T|T	0.54248|0.54248	-0.8322|-0.8322	5|10	.|0.87932	.|D	.|0	-20.0261|-20.0261	9.6347|9.6347	0.39800|0.39800	0.0756:0.0:0.7835:0.1409|0.0756:0.0:0.7835:0.1409	.|.	.|526;541;525	.|Q9UQ53;A8MPR0;Q9UQ53-2	.|MGT4B_HUMAN;.;.	V|C	350;306|541;526;394	.|ENSP00000338487:R541C;ENSP00000292591:R526C	.|ENSP00000292591:R526C	A|R	-|-	2|1	0|0	MGAT4B|MGAT4B	179157818|179157818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.457000|0.457000	0.32468|0.32468	7.812000|7.812000	0.86109|0.86109	1.185000|1.185000	0.42971|0.42971	0.561000|0.561000	0.74099|0.74099	GCG|CGC	MGAT4B	-	NULL	ENSG00000161013		0.662	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4B	HGNC	protein_coding	OTTHUMT00000253503.3	13	0.00	0	G	NM_014275		179225212	179225212	-1	no_errors	ENST00000337755	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	1.000	A
MYBBP1A	10514	genome.wustl.edu	37	17	4448343	4448343	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr17:4448343A>G	ENST00000254718.4	-	17	2594	c.2288T>C	c.(2287-2289)gTg>gCg	p.V763A	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.V763A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	763	Glu-rich.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.V763A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGCCTGCAGCACGGTCATCAG	0.692																																						dbGAP											1	Substitution - Missense(1)	breast(1)											142.0	102.0	115.0					17																	4448343		2136	4208	6344	-	-	-	SO:0001583	missense	0			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2288T>C	17.37:g.4448343A>G	ENSP00000254718:p.Val763Ala		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.V763A	ENST00000254718.4	37	c.2288	CCDS11046.1	17	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234144	0.79688	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.51817	0.69;0.69	5.22	5.22	0.72569	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.39898	1.24	0.54753	D	0.999985	D;D	0.57899	0.981;0.977	D;D	0.66716	0.946;0.911	T	0.49447	-0.8939	10	0.02654	T	1	-37.4196	12.7771	0.57455	1.0:0.0:0.0:0.0	.	763;763	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	A	763	ENSP00000370968:V763A;ENSP00000254718:V763A	ENSP00000254718:V763A	V	-	2	0	MYBBP1A	4395092	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	6.100000	0.71473	2.106000	0.64143	0.443000	0.29094	GTG	MYBBP1A	-	pfam_DNA_pol_V,superfamily_ARM-type_fold	ENSG00000132382		0.692	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2	49	0.00	0	A	NM_014520		4448343	4448343	-1	no_errors	ENST00000381556	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	G
MYBPC2	4606	genome.wustl.edu	37	19	50957393	50957393	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr19:50957393C>A	ENST00000357701.5	+	17	1917	c.1866C>A	c.(1864-1866)aaC>aaA	p.N622K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	622	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.N622K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTCACCAACCCCGTCGGCG	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											35.0	40.0	38.0					19																	50957393		2115	4207	6322	-	-	-	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1866C>A	19.37:g.50957393C>A	ENSP00000350332:p.Asn622Lys		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N622K	ENST00000357701.5	37	c.1866	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	15.16	2.751239	0.49257	.	.	ENSG00000086967	ENST00000357701	T	0.59638	0.25	3.26	1.04	0.20106	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37219	U	0.002185	D	0.82939	0.5146	H	0.99642	4.675	0.38017	D	0.934733	D	0.67145	0.996	D	0.68039	0.955	T	0.83306	-0.0025	10	0.87932	D	0	.	7.5417	0.27742	0.0:0.7664:0.0:0.2336	.	622	Q14324	MYPC2_HUMAN	K	622	ENSP00000350332:N622K	ENSP00000350332:N622K	N	+	3	2	MYBPC2	55649205	1.000000	0.71417	0.965000	0.40720	0.480000	0.33159	1.941000	0.40233	0.221000	0.20879	0.394000	0.25966	AAC	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000086967		0.627	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	121	0.82	1	C	NM_004533		50957393	50957393	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	missense	123	19.61	30	SNP	1.000	A
N4BP2	55728	genome.wustl.edu	37	4	40104400	40104400	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr4:40104400C>T	ENST00000261435.6	+	4	1351	c.935C>T	c.(934-936)aCt>aTt	p.T312I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	312					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)	p.T312I(1)		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						CAGAAATCTACTCGGGTCTCT	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											73.0	75.0	74.0					4																	40104400		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.935C>T	4.37:g.40104400C>T	ENSP00000261435:p.Thr312Ile		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.T312I	ENST00000261435.6	37	c.935	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	C	4.462	0.085641	0.08583	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.18657	2.2	5.57	1.72	0.24424	.	0.596299	0.15246	N	0.272636	T	0.13713	0.0332	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.21895	-1.0232	10	0.72032	D	0.01	0.0022	6.6937	0.23187	0.0:0.6151:0.0:0.3849	.	312;312	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	I	312;232	ENSP00000261435:T312I	ENSP00000261435:T312I	T	+	2	0	N4BP2	39780795	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.136000	0.15974	0.473000	0.27368	0.650000	0.86243	ACT	N4BP2	-	NULL	ENSG00000078177		0.483	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	160	0.00	0	C	NM_018177		40104400	40104400	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	missense	116	29.27	48	SNP	0.000	T
NELL2	4753	genome.wustl.edu	37	12	45105162	45105162	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr12:45105162G>A	ENST00000429094.2	-	11	1606	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	NELL2_ENST00000333837.4_Missense_Mutation_p.L391F|NELL2_ENST00000551601.1_Missense_Mutation_p.L367F|NELL2_ENST00000437801.2_Missense_Mutation_p.L418F|NELL2_ENST00000452445.2_Missense_Mutation_p.L368F|NELL2_ENST00000549027.1_Missense_Mutation_p.L367F|NELL2_ENST00000395487.2_Missense_Mutation_p.L367F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	368						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L418F(1)|p.L368F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTCTCAACAAGTTTCATGGTC	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(2)											113.0	99.0	104.0					12																	45105162		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1102C>T	12.37:g.45105162G>A	ENSP00000390680:p.Leu368Phe		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.L418F	ENST00000429094.2	37	c.1252	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680827	0.29872	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.27	4.3	0.51218	.	0.558488	0.17776	N	0.162408	T	0.41673	0.1169	N	0.08118	0	0.33626	D	0.605367	B;B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.001;0.001	B;B;B;B;B;B	0.11329	0.002;0.003;0.006;0.001;0.002;0.002	T	0.45542	-0.9254	10	0.23302	T	0.38	-14.1875	14.4674	0.67492	0.0808:0.0:0.9192:0.0	.	391;418;367;368;368;367	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	F	367;368;367;368;367;391;418;367	ENSP00000378866:L367F;ENSP00000390680:L368F;ENSP00000449332:L367F;ENSP00000394612:L368F;ENSP00000447927:L367F;ENSP00000327988:L391F;ENSP00000416341:L418F	ENSP00000327988:L391F	L	-	1	0	NELL2	43391429	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	4.665000	0.61547	2.722000	0.93159	0.655000	0.94253	CTT	NELL2	-	NULL	ENSG00000184613		0.398	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	195	0.00	0	G	NM_006159		45105162	45105162	-1	no_errors	ENST00000437801	ensembl	human	known	69_37n	missense	173	11.28	22	SNP	1.000	A
OPRM1	4988	genome.wustl.edu	37	6	154412313	154412313	+	Silent	SNP	G	G	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr6:154412313G>T	ENST00000330432.7	+	3	1107	c.870G>T	c.(868-870)gtG>gtT	p.V290V	OPRM1_ENST00000428397.2_Silent_p.V290V|OPRM1_ENST00000434900.2_Silent_p.V383V|OPRM1_ENST00000360422.4_Silent_p.V290V|OPRM1_ENST00000524163.1_Silent_p.V290V|OPRM1_ENST00000452687.2_Silent_p.V290V|OPRM1_ENST00000518759.1_Silent_p.V209V|OPRM1_ENST00000419506.2_Silent_p.V290V|OPRM1_ENST00000229768.5_Silent_p.V290V|OPRM1_ENST00000522236.1_Silent_p.V190V|OPRM1_ENST00000520708.1_Silent_p.V190V|OPRM1_ENST00000522555.1_Silent_p.V190V|OPRM1_ENST00000435918.2_Silent_p.V290V|OPRM1_ENST00000414028.2_Silent_p.V290V|OPRM1_ENST00000337049.4_Silent_p.V290V	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	290					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.V290V(2)|p.V383V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGGTGGCTGTGTTCATCGTCT	0.493																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											156.0	171.0	166.0					6																	154412313		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.870G>T	6.37:g.154412313G>T			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	prints_Mu_opioid_rcpt	p.V173F	ENST00000330432.7	37	c.517	CCDS55070.1	6																																																																																			OPRM1	-	NULL	ENSG00000112038		0.493	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	353	0.56	2	G	NM_000914		154412313	154412313	+1	no_errors	ENST00000524150	ensembl	human	known	69_37n	missense	280	12.50	40	SNP	1.000	T
OR5D18	219438	genome.wustl.edu	37	11	55587367	55587367	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr11:55587367G>T	ENST00000333976.4	+	1	282	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V88F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAACCTTGTTGTCAAAGACAG	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											233.0	226.0	228.0					11																	55587367		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.262G>T	11.37:g.55587367G>T	ENSP00000335025:p.Val88Phe		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V88F	ENST00000333976.4	37	c.262	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	2.843	-0.240066	0.05944	.	.	ENSG00000186119	ENST00000333976	T	0.01335	5.0	4.94	-1.79	0.07932	GPCR, rhodopsin-like superfamily (1);	1.071490	0.07431	N	0.895604	T	0.01320	0.0043	L	0.38692	1.165	0.09310	N	1	B	0.19200	0.034	B	0.23574	0.047	T	0.49615	-0.8921	10	0.12430	T	0.62	0.5046	5.5836	0.17262	0.4731:0.0:0.3949:0.132	.	88	Q8NGL1	OR5DI_HUMAN	F	88	ENSP00000335025:V88F	ENSP00000335025:V88F	V	+	1	0	OR5D18	55343943	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-5.375000	0.00127	0.011000	0.14865	-0.162000	0.13425	GTC	OR5D18	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186119		0.408	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	716	0.00	0	G	NM_001001952		55587367	55587367	+1	no_errors	ENST00000333976	ensembl	human	known	69_37n	missense	318	18.67	73	SNP	0.000	T
OR6C6	283365	genome.wustl.edu	37	12	55688683	55688683	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr12:55688683G>A	ENST00000358433.2	-	1	333	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L112F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCAGCCAGGAGGTAAAACTCA	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	54.0	54.0					12																	55688683		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.334C>T	12.37:g.55688683G>A	ENSP00000351211:p.Leu112Phe			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L112F	ENST00000358433.2	37	c.334	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	12.47	1.947928	0.34377	.	.	ENSG00000188324	ENST00000358433	T	0.13307	2.6	4.24	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000407	T	0.19565	0.0470	M	0.83692	2.655	0.27395	N	0.955012	B	0.18166	0.026	B	0.20384	0.029	T	0.17107	-1.0380	10	0.72032	D	0.01	.	9.6865	0.40103	0.1739:0.0:0.8261:0.0	.	112	A6NF89	OR6C6_HUMAN	F	112	ENSP00000351211:L112F	ENSP00000351211:L112F	L	-	1	0	OR6C6	53974950	0.004000	0.15560	0.993000	0.49108	0.880000	0.50808	0.314000	0.19432	0.545000	0.28902	0.580000	0.79431	CTC	OR6C6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000188324		0.388	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	178	0.00	0	G			55688683	55688683	-1	no_errors	ENST00000358433	ensembl	human	known	69_37n	missense	107	21.32	29	SNP	0.670	A
OS9	10956	genome.wustl.edu	37	12	58114298	58114298	+	Silent	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr12:58114298C>T	ENST00000315970.7	+	14	1916	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	OS9_ENST00000552285.1_Silent_p.I570I|OS9_ENST00000257966.8_Silent_p.I571I|OS9_ENST00000389146.6_Silent_p.I610I|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Silent_p.I518I|OS9_ENST00000439210.2_Silent_p.I496I|OS9_ENST00000413095.2_Silent_p.I364I|OS9_ENST00000551035.1_Silent_p.I538I|OS9_ENST00000389142.5_Silent_p.I555I	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	625					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.I625I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTTCAATATCTTGGTAAGAG	0.567																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											69.0	70.0	69.0					12																	58114298		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1875C>T	12.37:g.58114298C>T			A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.I625	ENST00000315970.7	37	c.1875	CCDS31843.1	12																																																																																			OS9	-	NULL	ENSG00000135506		0.567	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	190	0.00	0	C	NM_006812		58114298	58114298	+1	no_errors	ENST00000315970	ensembl	human	known	69_37n	silent	282	11.60	37	SNP	1.000	T
PGM1	5236	genome.wustl.edu	37	1	64097433	64097433	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr1:64097433G>A	ENST00000371084.3	+	4	875	c.662G>A	c.(661-663)cGt>cAt	p.R221H	PGM1_ENST00000371083.4_Missense_Mutation_p.R239H|PGM1_ENST00000540265.1_Missense_Mutation_p.R24H	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	221			R -> C (in allele PGM1*2+, allele PGM1*2-, allele PGM1*3+ and allele PGM1*3-; dbSNP:rs1126728). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7902567, ECO:0000269|PubMed:7902568, ECO:0000269|Ref.2}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)	p.R221H(1)|p.R239H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGAAGATCCGTATTGATGCT	0.413																																						dbGAP											2	Substitution - Missense(2)	breast(2)											196.0	169.0	178.0					1																	64097433		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.662G>A	1.37:g.64097433G>A	ENSP00000360125:p.Arg221His		B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.R239H	ENST00000371084.3	37	c.716	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751352	0.69533	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.62639	0.01;0.01;0.01	5.75	5.75	0.90469	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	L	0.56340	1.77	0.58432	D	0.999996	P;P	0.34757	0.455;0.467	B;B	0.26517	0.021;0.07	T	0.45086	-0.9285	10	0.15066	T	0.55	-0.1816	20.327	0.98704	0.0:0.0:1.0:0.0	.	239;221	P36871-2;P36871	.;PGM1_HUMAN	H	197;221;24;239	ENSP00000360125:R221H;ENSP00000443449:R24H;ENSP00000360124:R239H	ENSP00000360124:R239H	R	+	2	0	PGM1	63870021	1.000000	0.71417	0.985000	0.45067	0.881000	0.50899	7.960000	0.87893	2.885000	0.99019	0.655000	0.94253	CGT	PGM1	-	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	ENSG00000079739		0.413	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	99	0.00	0	G	NM_002633		64097433	64097433	+1	no_errors	ENST00000371083	ensembl	human	known	69_37n	missense	83	33.60	42	SNP	1.000	A
PSMD4	5710	genome.wustl.edu	37	1	151239784	151239784	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr1:151239784G>A	ENST00000368884.3	+	10	1179	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	PSMD4_ENST00000368881.4_Missense_Mutation_p.G370S	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	367					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.G367S(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCAAGGACGGCAAGAAGGA	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	92.0	97.0					1																	151239784		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.1099G>A	1.37:g.151239784G>A	ENSP00000357879:p.Gly367Ser		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A	p.G367S	ENST00000368884.3	37	c.1099	CCDS991.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.31|13.31	2.199494|2.199494	0.38806|0.38806	.|.	.|.	ENSG00000159352|ENSG00000159352	ENST00000368884;ENST00000368881|ENST00000445776	.|.	.|.	.|.	5.64|5.64	1.82|1.82	0.25136|0.25136	.|.	0.623087|.	0.16469|.	N|.	0.213052|.	T|T	0.04588|0.04588	0.0125|0.0125	N|N	0.02830|0.02830	-0.485|-0.485	0.29400|0.29400	N|N	0.862024|0.862024	B;B|.	0.19200|.	0.034;0.034|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.43426|0.43426	-0.9392|-0.9392	9|5	0.12766|.	T|.	0.61|.	-15.7699|-15.7699	8.5927|8.5927	0.33697|0.33697	0.364:0.0:0.636:0.0|0.364:0.0:0.636:0.0	.|.	370;367|.	Q5VWC4;P55036|.	.;PSMD4_HUMAN|.	S|Q	367;370|182	.|.	ENSP00000357876:G370S|.	G|R	+|+	1|2	0|0	PSMD4|PSMD4	149506408|149506408	0.055000|0.055000	0.20627|0.20627	0.992000|0.992000	0.48379|0.48379	0.468000|0.468000	0.32798|0.32798	0.580000|0.580000	0.23803|0.23803	0.203000|0.203000	0.20529|0.20529	-0.759000|-0.759000	0.03464|0.03464	GGC|CGG	PSMD4	-	NULL	ENSG00000159352		0.537	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD4	HGNC	protein_coding	OTTHUMT00000034409.3	359	0.28	1	G	NM_002810		151239784	151239784	+1	no_errors	ENST00000368884	ensembl	human	known	69_37n	missense	166	53.76	193	SNP	0.821	A
PTPRD	5789	genome.wustl.edu	37	9	8504363	8504363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr9:8504363C>A	ENST00000381196.4	-	20	2263	c.1720G>T	c.(1720-1722)Gga>Tga	p.G574*	PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G564*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G574*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G574*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G574*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G564*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G571*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G571*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G561*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G561*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G574*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	574	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G574*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTTTCAGTCCTTGCAGCCTA	0.443										TSP Lung(15;0.13)																												dbGAP											4	Substitution - Nonsense(4)	breast(4)											299.0	253.0	269.0					9																	8504363		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1720G>T	9.37:g.8504363C>A	ENSP00000370593:p.Gly574*		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G574*	ENST00000381196.4	37	c.1720	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	40	7.996108	0.98602	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.53	5.53	0.82687	.	0.217258	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	.	.	.	X	574;574;561;561;574;564;571;571;574;574;574;564	.	.	G	-	1	0	PTPRD	8494363	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.724000	0.54962	2.602000	0.87976	0.467000	0.42956	GGA	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	560	0.00	0	C			8504363	8504363	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	nonsense	545	14.69	94	SNP	1.000	A
SEPHS2	22928	genome.wustl.edu	37	16	30455839	30455839	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr16:30455839C>T	ENST00000478753.2	-	1	1663	c.1210G>A	c.(1210-1212)Gtt>Att	p.V404I	SEPHS2_ENST00000542752.1_Missense_Mutation_p.V347I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.V404I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	404					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.V404I(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACAATGCCAACGATCCACGCT	0.537																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	77.0	76.0					16																	30455839		1963	4155	6118	-	-	-	SO:0001583	missense	0			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1210G>A	16.37:g.30455839C>T	ENSP00000418669:p.Val404Ile		Q9BUQ2	Missense_Mutation	SNP	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.V347I	ENST00000478753.2	37	c.1039		16	.	.	.	.	.	.	.	.	.	.	C	1.680	-0.506658	0.04231	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.26810	1.71;1.71;1.71	5.28	2.92	0.33932	AIR synthase-related protein, C-terminal (2);	0.064986	0.64402	D	0.000011	T	0.05731	0.0150	N	0.01140	-0.99	0.80722	D	1	B;B	0.25486	0.127;0.026	B;B	0.25614	0.062;0.012	T	0.28554	-1.0040	10	0.02654	T	1	-12.3939	3.0002	0.06011	0.2391:0.5565:0.0:0.2043	.	404;347	Q99611;F5H8F9	SPS2_HUMAN;.	I	404;347;355;404	ENSP00000418669:V404I;ENSP00000443601:V347I;ENSP00000426234:V404I	ENSP00000390233:V355I	V	-	1	0	SEPHS2	30363340	1.000000	0.71417	0.853000	0.33588	0.544000	0.35116	6.143000	0.71756	1.360000	0.45960	-0.181000	0.13052	GTT	SEPHS2	-	pfam_AIR_synth_C,superfamily_AIR_synth_C,pirsf_SelD,tigrfam_SelD	ENSG00000179918		0.537	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	130	0.00	0	C	NM_012248		30455839	30455839	-1	no_errors	ENST00000542752	ensembl	human	known	69_37n	missense	94	48.35	88	SNP	1.000	T
SGPL1	8879	genome.wustl.edu	37	10	72604349	72604349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr10:72604349G>A	ENST00000373202.3	+	3	347	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	49					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.W49*(1)		large_intestine(4)	4						GTGTCGTGTGGACCCTGCTGA	0.448																																					Colon(151;1054 2458 6676 40971)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											163.0	147.0	152.0					10																	72604349		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.147G>A	10.37:g.72604349G>A	ENSP00000362298:p.Trp49*		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Nonsense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.W49*	ENST00000373202.3	37	c.147	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.693022	0.96793	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	.	.	.	5.87	3.97	0.46021	.	0.453907	0.25032	N	0.033671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.593	8.6276	0.33899	0.0:0.1536:0.5405:0.3059	.	.	.	.	X	49;32	.	ENSP00000299297:W32X	W	+	3	0	SGPL1	72274355	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.314000	0.33597	0.762000	0.33152	0.650000	0.86243	TGG	SGPL1	-	NULL	ENSG00000166224		0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	222	0.00	0	G	NM_003901		72604349	72604349	+1	no_errors	ENST00000373202	ensembl	human	known	69_37n	nonsense	201	18.88	47	SNP	0.996	A
SLC32A1	140679	genome.wustl.edu	37	20	37356319	37356319	+	Silent	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr20:37356319G>A	ENST00000217420.1	+	2	878	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	205					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.V205V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCGGCCGAGTGGTGAACGTAG	0.637																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											92.0	73.0	80.0					20																	37356319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.615G>A	20.37:g.37356319G>A			Q8N489	Silent	SNP	pfam_AA_transpt_TM	p.V205	ENST00000217420.1	37	c.615	CCDS13307.1	20																																																																																			SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.637	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	64	0.00	0	G	NM_080552		37356319	37356319	+1	no_errors	ENST00000217420	ensembl	human	known	69_37n	silent	75	14.77	13	SNP	1.000	A
SLCO3A1	28232	genome.wustl.edu	37	15	92671615	92671615	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr15:92671615C>T	ENST00000318445.6	+	7	1622	c.1408C>T	c.(1408-1410)Ccc>Tcc	p.P470S	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P470S|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	470	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P470S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CCCCTACTCGCCCTGCAATAA	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											204.0	170.0	182.0					15																	92671615		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1408C>T	15.37:g.92671615C>T	ENSP00000320634:p.Pro470Ser		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.P470S	ENST00000318445.6	37	c.1408	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	3.217	-0.160449	0.06502	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.35789	1.29;1.29	5.46	-1.27	0.09347	Major facilitator superfamily domain, general substrate transporter (1);	3.620050	0.00654	N	0.000561	T	0.13841	0.0335	N	0.04203	-0.255	0.29563	N	0.85047	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.0;0.002;0.006	T	0.20009	-1.0288	10	0.07030	T	0.85	.	0.778	0.01036	0.2333:0.311:0.1137:0.342	.	412;470;470	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	470;470;189	ENSP00000320634:P470S;ENSP00000387846:P470S	ENSP00000320634:P470S	P	+	1	0	SLCO3A1	90472619	0.001000	0.12720	0.040000	0.18447	0.992000	0.81027	-0.050000	0.11904	-0.231000	0.09825	0.655000	0.94253	CCC	SLCO3A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.532	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	314	0.00	0	C	NM_013272		92671615	92671615	+1	no_errors	ENST00000318445	ensembl	human	known	69_37n	missense	285	11.76	38	SNP	0.001	T
SOX5	6660	genome.wustl.edu	37	12	23687456	23687457	+	Splice_Site	INS	-	-	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr12:23687456_23687457insA	ENST00000451604.2	-	15	2090	c.1989_1989insT	c.(1987-1989)ggg>ggTg	p.G663fs	SOX5_ENST00000546136.1_Splice_Site_p.G650fs|SOX5_ENST00000309359.1_Splice_Site_p.G650fs|SOX5_ENST00000545921.1_Splice_Site_p.G653fs|SOX5_ENST00000537393.1_Splice_Site_p.G628fs|SOX5_ENST00000396007.2_Splice_Site_p.G277fs|SOX5_ENST00000381381.2_Splice_Site_p.G542fs|SOX5_ENST00000541536.1_Splice_Site_p.G542fs			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	663					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTGCTTGTTGCCTGTCAAGAAA	0.48																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1989-1->T	12.37:g.23687456_23687457insA			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Frame_Shift_Ins	INS	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q665fs	ENST00000451604.2	37	c.1989_1990	CCDS8699.1	12																																																																																			SOX5	-	NULL	ENSG00000134532		0.480	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	139	0.00	0	-	NM_006940	Frame_Shift_Ins	23687456	23687457	-1	no_errors	ENST00000451604	ensembl	human	known	69_37n	frame_shift_ins	117	33.14	58	INS	1.000:1.000	A
TFRC	7037	genome.wustl.edu	37	3	195787076	195787076	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr3:195787076G>A	ENST00000360110.4	-	14	1680	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.T423M|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.T222M|TFRC_ENST00000392396.3_Missense_Mutation_p.T504M	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	504					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.T504M(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CTCAATAAGCGTATACAACAG	0.338			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	1	Substitution - Missense(1)	breast(1)											150.0	137.0	141.0					3																	195787076		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1511C>T	3.37:g.195787076G>A	ENSP00000353224:p.Thr504Met		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.T504M	ENST00000360110.4	37	c.1511	CCDS3312.1	3	.	.	.	.	.	.	.	.	.	.	G	7.085	0.570948	0.13623	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.72835	0.73;0.73;0.73;-0.69	5.44	1.39	0.22231	Peptidase M28 (1);	0.617748	0.18600	N	0.136477	T	0.55657	0.1934	L	0.49640	1.575	0.09310	N	0.999996	B	0.31503	0.326	B	0.26517	0.07	T	0.47837	-0.9086	10	0.46703	T	0.11	-2.4282	2.9491	0.05855	0.1372:0.109:0.4585:0.2953	.	504	P02786	TFR1_HUMAN	M	504;423;504;222	ENSP00000353224:T504M;ENSP00000390133:T423M;ENSP00000376197:T504M;ENSP00000437753:T222M	ENSP00000353224:T504M	T	-	2	0	TFRC	197271473	0.000000	0.05858	0.039000	0.18376	0.459000	0.32528	-0.043000	0.12043	-0.040000	0.13580	0.655000	0.94253	ACG	TFRC	-	pfam_Peptidase_M28	ENSG00000072274		0.338	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	HGNC	protein_coding	OTTHUMT00000341346.1	273	0.00	0	G			195787076	195787076	-1	no_errors	ENST00000360110	ensembl	human	known	69_37n	missense	207	24.73	68	SNP	0.008	A
TMC2	117532	genome.wustl.edu	37	20	2596835	2596835	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr20:2596835A>G	ENST00000358864.1	+	15	1940	c.1925A>G	c.(1924-1926)aAc>aGc	p.N642S	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	642					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.N642S(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGATCTTCAACCAAGGAATG	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											215.0	181.0	193.0					20																	2596835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1925A>G	20.37:g.2596835A>G	ENSP00000351732:p.Asn642Ser		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.N642S	ENST00000358864.1	37	c.1925	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819735	0.71028	.	.	ENSG00000149488	ENST00000358864	T	0.64260	-0.09	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	L	0.48986	1.54	0.58432	D	0.999995	B	0.21381	0.055	B	0.40228	0.323	T	0.63892	-0.6534	10	0.42905	T	0.14	-22.5093	13.786	0.63110	1.0:0.0:0.0:0.0	.	642	Q8TDI7	TMC2_HUMAN	S	642	ENSP00000351732:N642S	ENSP00000351732:N642S	N	+	2	0	TMC2	2544835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.407000	0.80029	2.220000	0.72140	0.533000	0.62120	AAC	TMC2	-	pfam_TMC	ENSG00000149488		0.433	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	225	0.00	0	A			2596835	2596835	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	missense	197	37.06	116	SNP	1.000	G
TRIB2	28951	genome.wustl.edu	37	2	12880596	12880596	+	Silent	SNP	C	C	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr2:12880596C>T	ENST00000155926.4	+	3	2127	c.708C>T	c.(706-708)gaC>gaT	p.D236D	TRIB2_ENST00000381465.2_Silent_p.D100D	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.D236D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGCAGCCGACGTGTGGAGCC	0.592																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											81.0	63.0	69.0					2																	12880596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.708C>T	2.37:g.12880596C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D236	ENST00000155926.4	37	c.708	CCDS1683.1	2																																																																																			TRIB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000071575		0.592	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2	80	0.00	0	C	NM_021643		12880596	12880596	+1	no_errors	ENST00000155926	ensembl	human	known	69_37n	silent	62	43.12	47	SNP	1.000	T
VNN2	8875	genome.wustl.edu	37	6	133072390	133072390	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr6:133072390A>T	ENST00000326499.6	-	5	1218	c.1094T>A	c.(1093-1095)cTt>cAt	p.L365H	VNN2_ENST00000525270.1_Missense_Mutation_p.L312H|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000526192.1_5'Flank	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	365					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.L365H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ATGACAGCAAAGCTCCTTTTG	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											121.0	124.0	123.0					6																	133072390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1094T>A	6.37:g.133072390A>T	ENSP00000322276:p.Leu365His		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.L365H	ENST00000326499.6	37	c.1094	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791340	0.90367	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.95918	-3.85;-3.85	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000019	D	0.98191	0.9402	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99075	1.0835	10	0.62326	D	0.03	-12.4347	16.1146	0.81295	1.0:0.0:0.0:0.0	.	365	O95498	VNN2_HUMAN	H	365;312	ENSP00000322276:L365H;ENSP00000436822:L312H	ENSP00000322276:L365H	L	-	2	0	VNN2	133114083	1.000000	0.71417	0.110000	0.21437	0.983000	0.72400	6.294000	0.72738	2.260000	0.74910	0.528000	0.53228	CTT	VNN2	-	pirsf_Biotinidase_euk	ENSG00000112303		0.388	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	378	0.00	0	A			133072390	133072390	-1	no_errors	ENST00000326499	ensembl	human	known	69_37n	missense	257	31.83	120	SNP	0.954	T
ZNF680	340252	genome.wustl.edu	37	7	63982642	63982642	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FZ-01A-11W-A050-09	TCGA-AN-A0FZ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d77f59f7-8cff-41f3-a1bb-0de14524d4f4	5605aad9-7f20-4db3-9ed8-cae136f5773b	g.chr7:63982642G>T	ENST00000309683.6	-	4	641	c.490C>A	c.(490-492)Cat>Aat	p.H164N	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H164N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAAAATTTATGAAAGACTTTC	0.303																																						dbGAP											1	Substitution - Missense(1)	breast(1)											38.0	38.0	38.0					7																	63982642		2202	4291	6493	-	-	-	SO:0001583	missense	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.490C>A	7.37:g.63982642G>T	ENSP00000309330:p.His164Asn		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H164N	ENST00000309683.6	37	c.490	CCDS34644.1	7	.	.	.	.	.	.	.	.	.	.	g	0.784	-0.761244	0.02996	.	.	ENSG00000173041	ENST00000309683	T	0.50001	0.76	1.09	-2.18	0.07037	.	.	.	.	.	T	0.21307	0.0513	N	0.17312	0.475	0.09310	N	0.999997	P	0.35328	0.495	B	0.25987	0.065	T	0.11991	-1.0565	9	0.25751	T	0.34	.	3.9891	0.09529	0.0:0.0:0.4009:0.5991	.	164	Q8NEM1	ZN680_HUMAN	N	164	ENSP00000309330:H164N	ENSP00000309330:H164N	H	-	1	0	ZNF680	63620077	.	.	0.007000	0.13788	0.006000	0.05464	.	.	-0.489000	0.06716	-0.500000	0.04577	CAT	ZNF680	-	NULL	ENSG00000173041		0.303	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	208	0.00	0	G	NM_178558		63982642	63982642	-1	no_errors	ENST00000309683	ensembl	human	known	69_37n	missense	104	16.13	20	SNP	0.001	T
