#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								11352	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0G>A			11352		Missense_Mutation	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.A198T		37	c.592		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND4			G			11352	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	missense	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								11497	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0T>C			11497		Missense_Mutation	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.L246P		37	c.737		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND4			T			11497	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	missense	SNP	NULL	C
C17orf97	400566	genome.wustl.edu	37	17	263682	263682	+	Missense_Mutation	SNP	G	G	A	rs181299622		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr17:263682G>A	ENST00000360127.6	+	2	1064	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	380	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.687																																																0			17											16.0	22.0	20.0					17																	263682		1742	3568	5310	264028	SO:0001583	missense	0			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1048G>A	17.37:g.263682G>A	ENSP00000353245:p.Glu350Lys		264028	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	NULL	p.E360K	ENST00000360127.6	37	c.1078	CCDS32519.2	17	49	0.022435897435897436	17	0.034552845528455285	7	0.019337016574585635	14	0.024475524475524476	11	0.014511873350923483	G	0.012	-1.652098	0.00785	.	.	ENSG00000187624	ENST00000360127	T	0.31247	1.5	2.05	-4.1	0.03940	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.06405	0.002	T	0.18304	-1.0341	9	0.06891	T	0.86	.	1.6079	0.02687	0.4397:0.2798:0.1518:0.1287	.	350	Q6ZQX7-4	.	K	350	ENSP00000353245:E350K	ENSP00000353245:E350K	E	+	1	0	C17orf97	264028	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.613000	0.02059	-2.563000	0.00472	-0.974000	0.02594	GAG	-	NULL		0.687	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf97	protein_coding	OTTHUMT00000255648.4	G	NM_001013672		264028	+1	no_errors	NM_001013672	genbank	human	validated	54_36p	missense	SNP	0.000	A
MIDN	90007	genome.wustl.edu	37	19	1257190	1257190	+	Silent	SNP	C	C	T	rs150148017	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:1257190C>T	ENST00000591446.2	+	7	1735	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	MIDN_ENST00000300952.2_Silent_p.S442S|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	442						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGGCCTCCGGCTTGGGCC	0.682													c|||	2	0.000399361	0.0	0.0	5008	,	,		11646	0.0		0.001	False		,,,				2504	0.001															0			19								2,4402		0,2,2200	31.0	34.0	33.0		1326	-4.8	0.0	19	dbSNP_134	33	10,8580		0,10,4285	no	coding-synonymous	MIDN	NM_177401.4		0,12,6485	TT,TC,CC		0.1164,0.0454,0.0924		442/469	1257190	12,12982	2202	4295	6497	1208190	SO:0001819	synonymous_variant	90007			AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1326C>T	19.37:g.1257190C>T			1208190	Q96BW8	Silent	SNP	superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin	p.S442	ENST00000591446.2	37	c.1326	CCDS32864.1	19																																																																																			-	NULL		0.682	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIDN	protein_coding	OTTHUMT00000449965.2	C			1208190	+1	no_errors	NM_177401	genbank	human	validated	54_36p	silent	SNP	0.922	T
OR51B6	390058	genome.wustl.edu	37	11	5373332	5373332	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr11:5373332G>A	ENST00000380219.1	+	1	595	c.595G>A	c.(595-597)Gta>Ata	p.V199I	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	199					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATCCAGTTGTAGTTTTATT	0.433																																																0			11											240.0	215.0	224.0					11																	5373332		2201	4297	6498	5329908	SO:0001583	missense	390058				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.595G>A	11.37:g.5373332G>A	ENSP00000369568:p.Val199Ile		5329908		Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.V199I	ENST00000380219.1	37	c.595	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	G	0.265	-0.997175	0.02145	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00174	8.62	5.15	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.286793	0.24669	N	0.036568	T	0.00109	0.0003	N	0.12502	0.225	0.09310	N	1	B	0.15473	0.013	B	0.24269	0.052	T	0.06862	-1.0803	10	0.20519	T	0.43	.	7.6733	0.28471	0.0912:0.0:0.7487:0.1601	.	199	Q9H340	O51B6_HUMAN	I	198;199	ENSP00000369568:V199I	ENSP00000369568:V199I	V	+	1	0	OR51B6	5329908	0.000000	0.05858	0.974000	0.42286	0.318000	0.28184	0.605000	0.24179	1.330000	0.45394	0.557000	0.71058	GTA	-	superfamily_SSF81321,HMMPfam_7tm_1		0.433	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	protein_coding	OTTHUMT00000142960.1	G	NM_001004750		5329908	+1	no_errors	NM_001004750	genbank	human	provisional	54_36p	missense	SNP	0.017	A
CD70	970	genome.wustl.edu	37	19	6593972	6593972	+	5'Flank	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:6593972G>T	ENST00000245903.3	-	0	0				CD70_ENST00000423145.3_5'Flank	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TCTTCTCCATGAGGCAGAATG	0.448																																					Pancreas(183;2617 2876 10173 34193)											0			19																																								6544972	SO:0001631	upstream_gene_variant	729449			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970			19.37:g.6593972G>T	Exception_encountered		6544972	B4DPR8|Q53XX4|Q96J57	RNA	SNP	-	NULL	ENST00000245903.3	37	NULL	CCDS12170.1	19																																																																																			-	-		0.448	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729449	protein_coding	OTTHUMT00000457860.1	G			6544972	+1	pseudogene	XR_038133	genbank	human	model	54_36p	rna	SNP	0.998	T
TP53	7157	genome.wustl.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790|rs137852791		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr17:7578478G>C	ENST00000269305.4	-	5	641	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000420246.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGGGCGGGGGTGTGGAATC	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(1)	17											54.0	55.0	55.0					17																	7578478		2203	4300	6503	7519203	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.452C>G	17.37:g.7578478G>C	ENSP00000269305:p.Pro151Arg		7519203	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.P151R	ENST00000269305.4	37	c.452	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749177	0.49257	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.991;0.997;0.997;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151R;ENSP00000352610:P151R;ENSP00000269305:P151R;ENSP00000398846:P151R;ENSP00000391127:P151R;ENSP00000391478:P151R;ENSP00000425104:P19R;ENSP00000423862:P58R;ENSP00000424104:P151R	ENSP00000269305:P151R	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519203	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.998	C
CA6	765	genome.wustl.edu	37	1	9034433	9034433	+	Intron	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:9034433G>A	ENST00000377443.2	+	8	848				CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Missense_Mutation_p.R291K	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	CATCGTGGGAGAAGCCAAAAT	0.507																																																0			1											10.0	9.0	9.0					1																	9034433		871	1985	2856	8957020	SO:0001627	intron_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.845-248G>A	1.37:g.9034433G>A			8957020	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1	p.R291K	ENST00000377443.2	37	c.872	CCDS30578.1	1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684022	0.29872	.	.	ENSG00000131686	ENST00000377436	T	0.69306	-0.39	2.86	1.93	0.25924	.	7739.210000	0.00757	N	0.001119	T	0.41673	0.1169	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.43877	-0.9364	7	0.07175	T	0.84	.	5.9959	0.19493	0.1471:0.0:0.8529:0.0	.	.	.	.	K	291	ENSP00000366654:R291K	ENSP00000366654:R291K	R	+	2	0	CA6	8957020	0.787000	0.28750	0.052000	0.19188	0.031000	0.12232	1.256000	0.32921	0.746000	0.32786	0.563000	0.77884	AGA	-	NULL		0.507	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	protein_coding	OTTHUMT00000004911.1	G			8957020	+1	no_errors	ENST00000377436	ensembl	human	known	54_36p	missense	SNP	0.141	A
TPTE	7179	genome.wustl.edu	37	21	10944720	10944720	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr21:10944720C>A	ENST00000361285.4	-	11	843	c.514G>T	c.(514-516)Gtt>Ttt	p.V172F	TPTE_ENST00000342420.5_Missense_Mutation_p.V134F|TPTE_ENST00000298232.7_Missense_Mutation_p.V154F|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	172					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACGACATCAACCAGCAGAAGA	0.284																																																0			21											168.0	176.0	173.0					21																	10944720		2203	4299	6502	9966591	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.514G>T	21.37:g.10944720C>A	ENSP00000355208:p.Val172Phe		9966591	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.V172F	ENST00000361285.4	37	c.514	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	10.36	1.329277	0.24167	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98792	-5.14;-5.14;-5.14	2.31	-3.47	0.04753	Ion transport (1);	0.261021	0.33110	U	0.005273	D	0.97579	0.9207	L	0.39245	1.2	0.27008	N	0.964766	D;P;P	0.59357	0.985;0.69;0.934	D;B;P	0.64237	0.923;0.316;0.583	D	0.95154	0.8275	10	0.87932	D	0	-11.8245	9.4071	0.38469	0.0:0.772:0.0:0.228	.	134;154;172	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	154;172;134	ENSP00000298232:V154F;ENSP00000355208:V172F;ENSP00000344441:V134F	ENSP00000298232:V154F	V	-	1	0	TPTE	9966591	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.509000	0.00447	-1.239000	0.02532	-1.050000	0.02344	GTT	-	superfamily_Voltage-gated potassium channels		0.284	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	C			9966591	-1	no_errors	NM_199261	genbank	human	validated	54_36p	missense	SNP	0.001	A
ELOVL2	54898	genome.wustl.edu	37	6	10990048	10990048	+	Missense_Mutation	SNP	G	G	A	rs554486961		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:10990048G>A	ENST00000354666.3	-	7	736	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	218					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CATGGTGTGCGTGATGGTGAG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17242	0.001		0.0	False		,,,				2504	0.0															0			6											97.0	83.0	88.0					6																	10990048		2203	4300	6503	11098034	SO:0001583	missense	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.653C>T	6.37:g.10990048G>A	ENSP00000346693:p.Thr218Met		11098034	Q6P9E1|Q86W94	Missense_Mutation	SNP	HMMPfam_ELO,PatternScan_ELO	p.T218M	ENST00000354666.3	37	c.653	CCDS4518.1	6	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402113	0.62288	.	.	ENSG00000197977	ENST00000354666	T	0.21734	1.99	5.69	5.69	0.88448	.	0.378221	0.25178	N	0.032557	T	0.23410	0.0566	M	0.64080	1.96	0.29950	N	0.820345	D	0.55605	0.972	P	0.55055	0.767	T	0.04153	-1.0973	10	0.36615	T	0.2	-22.8475	13.4966	0.61430	0.0805:0.0:0.9195:0.0	.	218	Q9NXB9	ELOV2_HUMAN	M	218	ENSP00000346693:T218M	ENSP00000346693:T218M	T	-	2	0	ELOVL2	11098034	0.317000	0.24589	0.972000	0.41901	0.954000	0.61252	2.173000	0.42472	2.677000	0.91161	0.655000	0.94253	ACG	-	HMMPfam_ELO		0.537	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	protein_coding	OTTHUMT00000039849.1	G			11098034	-1	no_errors	NM_017770	genbank	human	validated	54_36p	missense	SNP	0.522	A
MAST1	22983	genome.wustl.edu	37	19	12958127	12958127	+	Silent	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:12958127C>T	ENST00000251472.4	+	5	390	c.351C>T	c.(349-351)cgC>cgT	p.R117R	MAST1_ENST00000591495.1_Silent_p.R113R	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCCAGGAGCGCCTTCACCAGC	0.667											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											57.0	53.0	54.0					19																	12958127		2203	4300	6503	12819127	SO:0001819	synonymous_variant	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.351C>T	19.37:g.12958127C>T		683	12819127		Silent	SNP	PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ	p.R117	ENST00000251472.4	37	c.351	CCDS32921.1	19																																																																																			-	HMMPfam_DUF1908		0.667	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	protein_coding	OTTHUMT00000451733.2	C	NM_014975		12819127	+1	no_errors	NM_014975	genbank	human	provisional	54_36p	silent	SNP	1.000	T
HSFY1P1	27437	genome.wustl.edu	37	22	17309625	17309625	+	RNA	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr22:17309625A>C	ENST00000425038.1	+	0	781					NR_003607.1				heat shock transcription factor, Y-linked 1 pseudogene 1																		AAGAAAGTTCATTTTCAACAT	0.378																																																0			22																																								15689625			27437			AY026053		22q11.2	2010-08-04	2010-08-04	2010-08-04	ENSG00000229027	ENSG00000229027			1846	pseudogene	pseudogene			"""cat eye syndrome chromosome region, candidate 8"", ""cat eye syndrome chromosome region, candidate 8 (non-protein coding)"""	CECR8		11381032	Standard	NR_003607		Approved	HSFYP1, HSFYL1	uc010gqr.1		OTTHUMG00000143727		22.37:g.17309625A>C			15689625		RNA	SNP	-	NULL	ENST00000425038.1	37	NULL		22																																																																																			-	-		0.378	HSFY1P1-002	KNOWN	basic	processed_transcript	CECR8	pseudogene	OTTHUMT00000289790.2	A	NR_003607		15689625	+1	pseudogene	NR_003607	genbank	human	provisional	54_36p	rna	SNP	0.133	C
IGSF21	84966	genome.wustl.edu	37	1	18691778	18691778	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:18691778C>T	ENST00000251296.1	+	6	985	c.602C>T	c.(601-603)gCg>gTg	p.A201V		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	201						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCACCAGCTGCGAGCTCCGGC	0.572																																																0			1											50.0	55.0	53.0					1																	18691778		2203	4300	6503	18564365	SO:0001583	missense	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.602C>T	1.37:g.18691778C>T	ENSP00000251296:p.Ala201Val		18564365	Q8NBR8	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG	p.A201V	ENST00000251296.1	37	c.602	CCDS184.1	1	.	.	.	.	.	.	.	.	.	.	C	5.529	0.282591	0.10458	.	.	ENSG00000117154	ENST00000251296	T	0.30981	1.51	4.76	2.58	0.30949	.	0.669254	0.15349	N	0.267067	T	0.17365	0.0417	N	0.12182	0.205	0.23314	N	0.997927	P	0.45126	0.851	B	0.42882	0.401	T	0.09037	-1.0693	10	0.16896	T	0.51	-15.2744	10.4679	0.44618	0.1305:0.6775:0.192:0.0	.	201	Q96ID5	IGS21_HUMAN	V	201	ENSP00000251296:A201V	ENSP00000251296:A201V	A	+	2	0	IGSF21	18564365	0.001000	0.12720	0.015000	0.15790	0.735000	0.41995	0.558000	0.23469	1.078000	0.41014	0.561000	0.74099	GCG	-	superfamily_SSF48726		0.572	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF21	protein_coding	OTTHUMT00000006924.1	C	NM_032880		18564365	+1	no_errors	NM_032880	genbank	human	provisional	54_36p	missense	SNP	0.578	T
TEP1	7011	genome.wustl.edu	37	14	20851397	20851397	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr14:20851397C>T	ENST00000262715.5	-	27	4023	c.3983G>A	c.(3982-3984)cGg>cAg	p.R1328Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1220Q|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1328	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTCACCAGCCGGGCCCGAGC	0.657																																																0			14											29.0	33.0	32.0					14																	20851397		2203	4299	6502	19921237	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3983G>A	14.37:g.20851397C>T	ENSP00000262715:p.Arg1328Gln		19921237	A0AUV9	Missense_Mutation	SNP	HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.R1328Q	ENST00000262715.5	37	c.3983	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	5.849	0.340761	0.11069	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.80033	-1.33;-1.33	5.63	-5.09	0.02920	NACHT nucleoside triphosphatase (1);	0.664088	0.15411	N	0.263781	T	0.49508	0.1561	N	0.03177	-0.4	0.80722	D	1	B;B;B	0.14438	0.008;0.003;0.01	B;B;B	0.09377	0.002;0.002;0.004	T	0.45396	-0.9264	10	0.05833	T	0.94	-2.8632	11.0611	0.47948	0.0:0.2166:0.088:0.6954	.	1220;678;1328	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	Q	1328;1328;1220	ENSP00000262715:R1328Q;ENSP00000452574:R1220Q	ENSP00000262715:R1328Q	R	-	2	0	TEP1	19921237	0.342000	0.24809	0.954000	0.39281	0.956000	0.61745	-0.671000	0.05250	-0.820000	0.04318	-0.302000	0.09304	CGG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT		0.657	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	C	NM_007110		19921237	-1	no_errors	NM_007110	genbank	human	reviewed	54_36p	missense	SNP	0.975	T
DOK2	9046	genome.wustl.edu	37	8	21767223	21767223	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr8:21767223G>T	ENST00000276420.4	-	5	1096	c.838C>A	c.(838-840)Ccg>Acg	p.P280T	DOK2_ENST00000544659.1_Missense_Mutation_p.P126T	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	280	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGTGAAGGCGGCGGCAGTGAG	0.687																																																0			8											43.0	50.0	48.0					8																	21767223		2203	4299	6502	21823169	SO:0001583	missense	9046			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.838C>A	8.37:g.21767223G>T	ENSP00000276420:p.Pro280Thr		21823169	Q8N5A4	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI	p.P280T	ENST00000276420.4	37	c.838	CCDS6016.1	8	.	.	.	.	.	.	.	.	.	.	G	7.096	0.573043	0.13623	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.44881	1.84;1.41;0.91	5.42	3.14	0.36123	.	0.069184	0.56097	D	0.000027	T	0.36220	0.0959	M	0.68317	2.08	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.16289	0.015;0.015	T	0.35992	-0.9766	10	0.48119	T	0.1	-17.876	4.354	0.11169	0.2453:0.1769:0.5778:0.0	.	280;280	O60496;A8K7W1	DOK2_HUMAN;.	T	280;126;126	ENSP00000276420:P280T;ENSP00000443602:P126T;ENSP00000430729:P126T	ENSP00000276420:P280T	P	-	1	0	DOK2	21823169	0.691000	0.27709	0.000000	0.03702	0.002000	0.02628	2.488000	0.45276	0.377000	0.24735	0.655000	0.94253	CCG	-	NULL		0.687	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	protein_coding	OTTHUMT00000253735.3	G	NM_003974		21823169	-1	no_errors	NM_003974	genbank	human	reviewed	54_36p	missense	SNP	0.025	T
C9orf72	203228	genome.wustl.edu	37	9	27548644	27548644	+	Silent	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr9:27548644G>A	ENST00000380003.3	-	10	1233	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	390					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGAGAGATAAGCCAGGTTTCA	0.393																																																0			9											81.0	78.0	79.0					9																	27548644		2203	4300	6503	27538644	SO:0001819	synonymous_variant	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.1170C>T	9.37:g.27548644G>A			27538644	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	NULL	p.G390	ENST00000380003.3	37	c.1170	CCDS6522.1	9																																																																																			-	NULL		0.393	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	protein_coding	OTTHUMT00000051969.1	G	NM_018325		27538644	-1	no_errors	NM_018325	genbank	human	validated	54_36p	silent	SNP	0.959	A
CCDC178	374864	genome.wustl.edu	37	18	30825301	30825301	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr18:30825301C>G	ENST00000383096.3	-	15	1683	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	CCDC178_ENST00000300227.8_Missense_Mutation_p.E501Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.E501Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E501Q			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	501																	CGATAAGCCTCCTTATAGATG	0.318																																																0			18											241.0	196.0	211.0					18																	30825301		2203	4300	6503	29079299	SO:0001583	missense	374864			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1501G>C	18.37:g.30825301C>G	ENSP00000372576:p.Glu501Gln		29079299	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.E501Q	ENST00000383096.3	37	c.1501	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	5.779	0.328005	0.10956	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.75	1.86	0.25419	.	.	.	.	.	T	0.19046	0.0457	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.28998	0.23;0.23;0.23;0.23;0.23	B;B;B;B;B	0.27170	0.077;0.077;0.077;0.045;0.045	T	0.25606	-1.0127	9	0.21014	T	0.42	-3.6388	6.7318	0.23387	0.0:0.5389:0.3631:0.098	.	501;501;501;501;501	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	Q	501	ENSP00000385591:E501Q;ENSP00000372576:E501Q;ENSP00000300227:E501Q;ENSP00000385867:E501Q;ENSP00000385234:E501Q	ENSP00000300227:E501Q	E	-	1	0	C18orf34	29079299	0.003000	0.15002	0.011000	0.14972	0.008000	0.06430	0.347000	0.20014	0.272000	0.22027	0.563000	0.77884	GAG	-	NULL		0.318	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf34	protein_coding	OTTHUMT00000255373.2	C	NM_198995		29079299	-1	no_errors	NM_001105528	genbank	human	validated	54_36p	missense	SNP	0.001	G
PDS5B	23047	genome.wustl.edu	37	13	33344523	33344523	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr13:33344523C>G	ENST00000315596.10	+	32	4075	c.3889C>G	c.(3889-3891)Ctt>Gtt	p.L1297V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1297					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACCAAAACCTCTTGGTGGAGG	0.423																																																0			13											49.0	49.0	49.0					13																	33344523		1823	4070	5893	32242523	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3889C>G	13.37:g.33344523C>G	ENSP00000313851:p.Leu1297Val		32242523	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_AT_hook	p.L1297V	ENST00000315596.10	37	c.3889	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	8.868	0.948477	0.18356	.	.	ENSG00000083642	ENST00000315596;ENST00000447833	.	.	.	6.08	3.11	0.35812	AT hook, DNA-binding motif (1);	0.492316	0.20955	N	0.082678	T	0.21590	0.0520	N	0.08118	0	0.24636	N	0.993593	B	0.16802	0.019	B	0.17722	0.019	T	0.14227	-1.0480	9	0.29301	T	0.29	-1.036	9.912	0.41411	0.2104:0.3089:0.4807:0.0	.	1297	Q9NTI5	PDS5B_HUMAN	V	1297;249	.	ENSP00000313851:L1297V	L	+	1	0	PDS5B	32242523	0.996000	0.38824	0.941000	0.38009	0.934000	0.57294	1.505000	0.35736	1.537000	0.49254	0.591000	0.81541	CTT	-	NULL		0.423	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	protein_coding	OTTHUMT00000044428.3	C	NM_015032		32242523	+1	no_errors	NM_015032	genbank	human	validated	54_36p	missense	SNP	0.950	G
FHOD3	80206	genome.wustl.edu	37	18	34289151	34289151	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr18:34289151C>A	ENST00000359247.4	+	14	1754	c.1754C>A	c.(1753-1755)gCc>gAc	p.A585D	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.A602D|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.A777D|FHOD3_ENST00000445677.1_Missense_Mutation_p.A564D	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	585					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGGACATAGCCTCTGCCCAC	0.607																																																0			18											68.0	80.0	76.0					18																	34289151		2203	4300	6503	32543149	SO:0001583	missense	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1754C>A	18.37:g.34289151C>A	ENSP00000352186:p.Ala585Asp		32543149	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2	p.A602D	ENST00000359247.4	37	c.1805		18	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879638	0.51801	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.31247	1.5;1.97;1.97	5.84	3.91	0.45181	.	0.545165	0.18745	N	0.132348	T	0.20292	0.0488	L	0.36672	1.1	0.24654	N	0.993506	P;P;P;P	0.48764	0.465;0.915;0.465;0.79	B;B;B;B	0.39339	0.232;0.297;0.232;0.231	T	0.11842	-1.0571	10	0.38643	T	0.18	.	7.0336	0.24980	0.235:0.6801:0.0:0.0849	.	564;585;602;777	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	D	602;585;564	ENSP00000257209:A602D;ENSP00000352186:A585D;ENSP00000411430:A564D	ENSP00000257209:A602D	A	+	2	0	FHOD3	32543149	0.929000	0.31497	0.549000	0.28204	0.216000	0.24613	1.816000	0.38992	2.760000	0.94817	0.655000	0.94253	GCC	-	NULL		0.607	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	protein_coding	OTTHUMT00000460884.1	C	XM_371114		32543149	+1	no_errors	NM_025135	genbank	human	validated	54_36p	missense	SNP	0.812	A
DLGAP4	22839	genome.wustl.edu	37	20	35128054	35128054	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr20:35128054G>A	ENST00000373907.2	+	8	2273	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G692R|DLGAP4_ENST00000340491.4_Missense_Mutation_p.G153R|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	692					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGTCCATCGGGGTTCAGGT	0.592																																																0			20											71.0	65.0	67.0					20																	35128054		2203	4300	6503	34561468	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2074G>A	20.37:g.35128054G>A	ENSP00000363014:p.Gly692Arg		34561468	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	HMMPfam_GKAP	p.G153R	ENST00000373907.2	37	c.457		20	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192937	0.78902	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.30714	1.52;1.52;1.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	.	.	.	0.80722	D	1	P	0.41420	0.749	P	0.48488	0.579	T	0.45279	-0.9272	9	0.87932	D	0	.	17.8279	0.88671	0.0:0.0:1.0:0.0	.	153	Q9Y2H0-3	.	R	692;692;153	ENSP00000363014:G692R;ENSP00000341633:G692R;ENSP00000345700:G153R	ENSP00000341633:G692R	G	+	1	0	DLGAP4	34561468	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.864000	0.99589	2.449000	0.82847	0.650000	0.86243	GGG	-	HMMPfam_GKAP		0.592	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	protein_coding	OTTHUMT00000079025.2	G	NM_014902		34561468	+1	no_errors	NM_183006	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GJB4	127534	genome.wustl.edu	37	1	35226950	35226950	+	Missense_Mutation	SNP	G	G	A	rs148686980		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:35226950G>A	ENST00000339480.1	+	2	465	c.95G>A	c.(94-96)cGt>cAt	p.R32H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	32					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TTCATCTTTCGTGTGCTGGTG	0.582																																																0			1						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	227.0	157.0	180.0		95	5.5	0.9	1	dbSNP_134	180	0,8600		0,0,4300	no	missense	GJB4	NM_153212.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	32/267	35226950	1,13005	2203	4300	6503	34999537	SO:0001583	missense	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.95G>A	1.37:g.35226950G>A	ENSP00000345868:p.Arg32His		34999537	B3KQ82	Missense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2	p.R32H	ENST00000339480.1	37	c.95	CCDS383.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340106	0.81911	2.27E-4	0.0	ENSG00000189433	ENST00000339480	D	0.99688	-6.41	5.5	5.5	0.81552	Connexin, N-terminal (1);	0.060228	0.64402	D	0.000004	D	0.99854	0.9932	H	0.97465	4.01	0.48185	D	0.999602	D	0.89917	1.0	D	0.97110	1.0	D	0.96682	0.9504	10	0.87932	D	0	.	18.9965	0.92815	0.0:0.0:1.0:0.0	.	32	Q9NTQ9	CXB4_HUMAN	H	32	ENSP00000345868:R32H	ENSP00000345868:R32H	R	+	2	0	GJB4	34999537	1.000000	0.71417	0.941000	0.38009	0.336000	0.28762	7.959000	0.87885	2.604000	0.88044	0.655000	0.94253	CGT	-	HMMPfam_Connexin		0.582	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB4	protein_coding	OTTHUMT00000011560.1	G	NM_153212		34999537	+1	no_errors	NM_153212	genbank	human	validated	54_36p	missense	SNP	0.998	A
C6orf222	389384	genome.wustl.edu	37	6	36298059	36298059	+	Missense_Mutation	SNP	C	C	T	rs74693071	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:36298059C>T	ENST00000437635.2	-	2	586	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	137										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTGCTGCTTCCAGGGGCTCC	0.617													C|||	192	0.0383387	0.0023	0.2118	5008	,	,		17707	0.0397		0.002	False		,,,				2504	0.0															0			6						C	LYS/GLU	9,4397	15.5+/-35.6	0,9,2194	73.0	65.0	68.0		409	4.4	0.0	6	dbSNP_131	68	12,8588	8.4+/-32.0	0,12,4288	yes	missense	C6orf222	NM_001010903.4	56	0,21,6482	TT,TC,CC		0.1395,0.2043,0.1615	probably-damaging	137/653	36298059	21,12985	2203	4300	6503	36406037	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.409G>A	6.37:g.36298059C>T	ENSP00000418983:p.Glu137Lys		36406037	B2RTY8	Missense_Mutation	SNP	NULL	p.E137K	ENST00000437635.2	37	c.409	CCDS34439.1	6	116	0.05311355311355311	3	0.006097560975609756	80	0.22099447513812154	31	0.05419580419580419	2	0.002638522427440633	C	9.909	1.209077	0.22205	0.002043	0.001395	ENSG00000189325	ENST00000437635	T	0.60920	0.15	4.41	4.41	0.53225	.	0.597834	0.13888	N	0.355817	T	0.66557	0.2801	M	0.75264	2.295	0.80722	P	0.0	D	0.71674	0.998	D	0.64321	0.924	T	0.69621	-0.5096	9	0.66056	D	0.02	-53.333	12.67	0.56862	0.0:1.0:0.0:0.0	.	137	P0C671	CF222_HUMAN	K	137	ENSP00000418983:E137K	ENSP00000418983:E137K	E	-	1	0	C6orf222	36406037	0.009000	0.17119	0.005000	0.12908	0.027000	0.11550	3.032000	0.49736	2.452000	0.82932	0.289000	0.19496	GAA	-	NULL		0.617	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	protein_coding	OTTHUMT00000040338.2	C	NM_001010903		36406037	-1	no_errors	NM_001010903	genbank	human	predicted	54_36p	missense	SNP	0.002	T
PIK3C3	5289	genome.wustl.edu	37	18	39623721	39623721	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr18:39623721A>G	ENST00000262039.4	+	20	2214	c.2128A>G	c.(2128-2130)Agt>Ggt	p.S710G	PIK3C3_ENST00000587402.1_Missense_Mutation_p.S57G|PIK3C3_ENST00000398870.3_Missense_Mutation_p.S647G|PIK3C3_ENST00000589056.1_Missense_Mutation_p.S57G|PIK3C3_ENST00000593098.1_Missense_Mutation_p.S195G	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	710	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATATGCACCAAGTGAGAATGG	0.323										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)											0			18											149.0	139.0	142.0					18																	39623721		2203	4300	6503	37877719	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2128A>G	18.37:g.39623721A>G	ENSP00000262039:p.Ser710Gly		37877719	Q15134	Missense_Mutation	SNP	HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.S710G	ENST00000262039.4	37	c.2128	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735218	0.48939	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81908	-1.55;-1.55	5.22	5.22	0.72569	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.197794	0.51477	D	0.000083	T	0.79215	0.4408	L	0.41236	1.265	0.80722	D	1	B;B;P	0.35307	0.016;0.412;0.494	B;B;B	0.39339	0.11;0.257;0.297	T	0.76798	-0.2826	9	.	.	.	.	15.4058	0.74877	1.0:0.0:0.0:0.0	.	647;647;710	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	G	710;647	ENSP00000262039:S710G;ENSP00000381845:S647G	.	S	+	1	0	PIK3C3	37877719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.787000	0.91830	2.105000	0.64084	0.528000	0.53228	AGT	-	superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc		0.323	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	protein_coding	OTTHUMT00000255804.1	A	NM_002647		37877719	+1	no_errors	NM_002647	genbank	human	validated	54_36p	missense	SNP	1.000	G
PDIA3	2923	genome.wustl.edu	37	15	44037367	44037367	+	5'Flank	SNP	T	T	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr15:44037367T>G	ENST00000300289.5	+	0	0				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CGGCCATGTCTGCTAAGAAAA	0.488																																																0			15																																								41824659	SO:0001631	upstream_gene_variant	440278				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44037367T>G	Exception_encountered		41824659	Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	-	NULL	ENST00000300289.5	37	NULL	CCDS10101.1	15																																																																																			-	-		0.488	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER2P1	protein_coding	OTTHUMT00000103532.3	T	NM_005313		41824659	-1	pseudogene	NR_002318	genbank	human	validated	54_36p	rna	SNP	0.990	G
GATM	2628	genome.wustl.edu	37	15	45658648	45658648	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr15:45658648A>G	ENST00000396659.3	-	5	1073	c.734T>C	c.(733-735)gTg>gCg	p.V245A	GATM_ENST00000558336.1_Missense_Mutation_p.V245A	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	245					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	CTCAGTTGTCACAAATTTTCC	0.448																																																0			15											82.0	77.0	78.0					15																	45658648		2198	4298	6496	43445940	SO:0001583	missense	2628			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.734T>C	15.37:g.45658648A>G	ENSP00000379895:p.Val245Ala		43445940	B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	PatternScan_TONB_DEPENDENT_REC_1,superfamily_Pentein,HMMPfam_Amidinotransf	p.V245A	ENST00000396659.3	37	c.734	CCDS10122.1	15	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320584	0.81469	.	.	ENSG00000171766	ENST00000396659	T	0.42513	0.97	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70487	0.969;0.932	T	0.52873	-0.8517	10	0.41790	T	0.15	-13.2087	13.7457	0.62874	1.0:0.0:0.0:0.0	.	245;245	P50440-3;P50440	.;GATM_HUMAN	A	245	ENSP00000379895:V245A	ENSP00000379895:V245A	V	-	2	0	GATM	43445940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.619000	0.90938	2.126000	0.65437	0.533000	0.62120	GTG	-	superfamily_Pentein,HMMPfam_Amidinotransf		0.448	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATM	protein_coding	OTTHUMT00000254220.2	A	NM_001482		43445940	-1	no_errors	NM_001482	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RYR1	6261	genome.wustl.edu	37	19	38980880	38980880	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:38980880A>T	ENST00000359596.3	+	36	5979	c.5979A>T	c.(5977-5979)agA>agT	p.R1993S	RYR1_ENST00000360985.3_Missense_Mutation_p.R1993S|RYR1_ENST00000355481.4_Missense_Mutation_p.R1993S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1993	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGACTGCAAGACGTACCCGCG	0.582																																																0			19											55.0	52.0	53.0					19																	38980880		2203	4300	6503	43672720	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5979A>T	19.37:g.38980880A>T	ENSP00000352608:p.Arg1993Ser		43672720	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.R1993S	ENST00000359596.3	37	c.5979	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	A	8.974	0.973582	0.18736	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71579	-0.58;-0.58;-0.58	4.57	-8.63	0.00878	.	0.082818	0.43110	U	0.000603	T	0.65471	0.2694	M	0.85299	2.745	0.22896	N	0.998597	B;B	0.30686	0.29;0.191	B;B	0.32864	0.154;0.073	T	0.56774	-0.7923	10	0.87932	D	0	.	9.6695	0.40004	0.1071:0.192:0.6056:0.0953	.	1993;1993	P21817-2;P21817	.;RYR1_HUMAN	S	1993	ENSP00000352608:R1993S;ENSP00000347667:R1993S;ENSP00000354254:R1993S	ENSP00000347667:R1993S	R	+	3	2	RYR1	43672720	0.000000	0.05858	0.182000	0.23118	0.060000	0.15804	-1.753000	0.01818	-2.058000	0.00895	-0.394000	0.06481	AGA	-	NULL		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	A			43672720	+1	no_errors	NM_000540	genbank	human	reviewed	54_36p	missense	SNP	0.874	T
TBRG4	9238	genome.wustl.edu	37	7	45141202	45141202	+	Missense_Mutation	SNP	G	G	T	rs368230316		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr7:45141202G>T	ENST00000258770.3	-	9	1700	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M	TBRG4_ENST00000395655.4_Missense_Mutation_p.L417M|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Missense_Mutation_p.L417M|TBRG4_ENST00000494076.1_Missense_Mutation_p.L527M	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	527					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTGTCCAGCAGCACCTCAGCA	0.582																																																0			7											50.0	48.0	49.0					7																	45141202		2203	4300	6503	45107727	SO:0001583	missense	9238			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1579C>A	7.37:g.45141202G>T	ENSP00000258770:p.Leu527Met		45107727	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP	p.L527M	ENST00000258770.3	37	c.1579	CCDS5501.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.776802|3.776802	0.70107|0.70107	.|.	.|.	ENSG00000136270|ENSG00000136270	ENST00000483615|ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9	4.79|4.79	1.77|1.77	0.24775|0.24775	.|FAST kinase-like protein, subdomain 2 (1);	.|0.153604	.|0.42964	.|D	.|0.000625	T|T	0.53769|0.53769	0.1817|0.1817	L|L	0.57536|0.57536	1.79|1.79	0.36725|0.36725	D|D	0.881387|0.881387	.|D;D;P	.|0.59357	.|0.975;0.985;0.722	.|P;P;P	.|0.61397	.|0.888;0.822;0.497	T|T	0.59144|0.59144	-0.7509|-0.7509	5|10	.|0.27082	.|T	.|0.32	.|.	14.5985|14.5985	0.68424|0.68424	0.0:0.6437:0.3563:0.0|0.0:0.6437:0.3563:0.0	.|.	.|538;417;527	.|B4DU42;Q969Z0-2;Q969Z0	.|.;.;TBRG4_HUMAN	D|M	241|527;417;417;527	.|ENSP00000258770:L527M;ENSP00000354992:L417M;ENSP00000379016:L417M;ENSP00000420597:L527M	.|ENSP00000258770:L527M	A|L	-|-	2|1	0|2	TBRG4|TBRG4	45107727|45107727	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.448000|0.448000	0.21726|0.21726	0.579000|0.579000	0.29504|0.29504	0.591000|0.591000	0.81541|0.81541	GCT|CTG	-	HMMPfam_FAST_2		0.582	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	protein_coding	OTTHUMT00000251351.1	G	NM_030900		45107727	-1	no_errors	NM_004749	genbank	human	validated	54_36p	missense	SNP	1.000	T
CCR9	10803	genome.wustl.edu	37	3	45943015	45943015	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:45943015G>T	ENST00000357632.2	+	3	915	c.735G>T	c.(733-735)aaG>aaT	p.K245N	Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.K233N|CCR9_ENST00000355983.2_Missense_Mutation_p.K233N|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	245					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.K245N(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TACAAGCCAAGAAGTCTTCCA	0.483																																																1	Substitution - Missense(1)	large_intestine(1)	3											215.0	180.0	191.0					3																	45943015		2203	4300	6503	45918019	SO:0001583	missense	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.735G>T	3.37:g.45943015G>T	ENSP00000350256:p.Lys245Asn		45918019	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.K245N	ENST00000357632.2	37	c.735	CCDS2732.1	3	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463270	0.63513	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37584	1.19;1.19;1.19	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.332930	0.30920	N	0.008601	T	0.48874	0.1524	M	0.66439	2.03	0.46185	D	0.998911	P	0.42620	0.785	P	0.55455	0.776	T	0.52283	-0.8596	10	0.72032	D	0.01	.	6.4459	0.21875	0.2285:0.0:0.7715:0.0	.	245	P51686	CCR9_HUMAN	N	245;233;233	ENSP00000350256:K245N;ENSP00000379292:K233N;ENSP00000348260:K233N	ENSP00000348260:K233N	K	+	3	2	CCR9	45918019	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.117000	0.50407	2.289000	0.77006	0.563000	0.77884	AAG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.483	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR9	protein_coding	OTTHUMT00000257323.2	G			45918019	+1	no_errors	NM_031200	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SYT15	83849	genome.wustl.edu	37	10	46968665	46968665	+	Silent	SNP	G	G	A	rs200814731	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr10:46968665G>A	ENST00000374321.4	-	3	337	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	SYT15_ENST00000374325.3_Silent_p.L91L|SYT15_ENST00000503753.1_Silent_p.L91L|SYT15_ENST00000374323.4_Silent_p.L144L|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCACTGTGCAGGGGCACCCAA	0.632													G|||	469	0.0936502	0.1051	0.0764	5008	,	,		35813	0.0496		0.1282	False		,,,				2504	0.1002				Ovarian(57;1152 1428 19651 37745)											0			10						G	,	277,3977		0,277,1850	55.0	65.0	62.0		271,271	2.7	0.2	10	dbSNP_132	62	613,7885		0,613,3636	no	coding-synonymous,coding-synonymous	SYT15	NM_031912.4,NM_181519.2	,	0,890,5486	AA,AG,GG		7.2135,6.5115,6.9793	,	91/422,91/391	46968665	890,11862	2127	4249	6376	46388671	SO:0001819	synonymous_variant	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.271C>T	10.37:g.46968665G>A			46388671	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	PatternScan_CNMP_BINDING_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.L91	ENST00000374321.4	37	c.271	CCDS44376.1	10																																																																																			-	NULL		0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT15	protein_coding	OTTHUMT00000367008.1	G	NM_031912		46388671	-1	no_errors	NM_031912	genbank	human	reviewed	54_36p	silent	SNP	0.005	A
ABCC11	85320	genome.wustl.edu	37	16	48264374	48264374	+	Silent	SNP	G	G	A	rs368116218		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr16:48264374G>A	ENST00000394747.1	-	2	559	c.210C>T	c.(208-210)acC>acT	p.T70T	ABCC11_ENST00000353782.5_Silent_p.T70T|ABCC11_ENST00000537808.1_Silent_p.T70T|ABCC11_ENST00000394748.1_Silent_p.T70T|ABCC11_ENST00000356608.2_Silent_p.T70T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	70					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGGGAATCATGGTTCTCAAGG	0.592																																																0			16											96.0	86.0	90.0					16																	48264374		2200	4300	6500	46821875	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.210C>T	16.37:g.48264374G>A			46821875	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.T70	ENST00000394747.1	37	c.210	CCDS10732.1	16																																																																																			-	NULL		0.592	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	protein_coding	OTTHUMT00000429984.1	G	NM_032583		46821875	-1	no_errors	NM_032583	genbank	human	reviewed	54_36p	silent	SNP	0.926	A
LIPE-AS1	100996307	genome.wustl.edu	37	19	42989786	42989786	+	RNA	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:42989786A>C	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000596116.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NR_073179.1				LIPE antisense RNA 1																		AACACATTCCATTTGTCCTAG	0.493																																																0			19																																								47681626			732229			AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.42989786A>C			47681626		RNA	SNP	-	NULL	ENST00000594688.1	37	NULL		19																																																																																			-	-		0.493	LIPE-AS1-004	KNOWN	basic	antisense	LOC732229	antisense	OTTHUMT00000464099.1	A	NR_073179		47681626	-1	pseudogene	XR_038811	genbank	human	model	54_36p	rna	SNP	1.000	C
ABCA13	154664	genome.wustl.edu	37	7	48315557	48315557	+	Silent	SNP	T	T	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr7:48315557T>G	ENST00000435803.1	+	17	6318	c.6294T>G	c.(6292-6294)acT>acG	p.T2098T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2098					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGATAACTTTGCAGTTTG	0.353																																																0			7											38.0	37.0	37.0					7																	48315557		1806	4057	5863	48286103	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6294T>G	7.37:g.48315557T>G			48286103	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	PatternScan_SERPIN	p.L2044R	ENST00000435803.1	37	c.6131	CCDS47584.1	7																																																																																			-	NULL		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	T	NM_152701		48286103	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_152701	genbank	human	reviewed	54_36p	missense	SNP	0.000	G
NCKAP1L	3071	genome.wustl.edu	37	12	54893228	54893228	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:54893228C>A	ENST00000293373.6	+	2	271	c.192C>A	c.(190-192)aaC>aaA	p.N64K	RP11-753H16.3_ENST00000550474.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N14K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	64					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTTCCCAACATAGATGTCC	0.423																																																0			12											125.0	118.0	120.0					12																	54893228		2203	4300	6503	53179495	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.192C>A	12.37:g.54893228C>A	ENSP00000293373:p.Asn64Lys		53179495	B4DUT5|Q52LW0	Missense_Mutation	SNP	HMMPfam_Nckap1	p.N64K	ENST00000293373.6	37	c.192	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111416	0.56398	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.27557	1.66;1.66	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.74881	2.28	0.46376	D	0.99901	P	0.48089	0.905	P	0.47118	0.538	T	0.13308	-1.0514	10	0.20046	T	0.44	-11.4592	10.0394	0.42148	0.0:0.9086:0.0:0.0914	.	64	P55160	NCKPL_HUMAN	K	64;14	ENSP00000293373:N64K;ENSP00000445596:N14K	ENSP00000293373:N64K	N	+	3	2	NCKAP1L	53179495	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.183000	0.50918	2.500000	0.84329	0.467000	0.42956	AAC	-	HMMPfam_Nckap1		0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	protein_coding	OTTHUMT00000406195.1	C	NM_005337		53179495	+1	no_errors	NM_005337	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PLA2G4C	8605	genome.wustl.edu	37	19	48556303	48556303	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr19:48556303C>T	ENST00000599921.1	-	16	1888	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V511I|AC010458.1_ENST00000408668.1_RNA|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.V511I|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V521I			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	511	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTTTCCCTGACATTCTTCTTG	0.468																																																0			19											225.0	175.0	192.0					19																	48556303		2203	4300	6503	53248115	SO:0001583	missense	8605			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1531G>A	19.37:g.48556303C>T	ENSP00000469473:p.Val511Ile		53248115	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase,HMMPfam_PLA2_B	p.V511I	ENST00000599921.1	37	c.1531	CCDS12710.1	19	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415024	0.25552	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04360	3.64;3.64	2.99	1.94	0.25998	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.270289	0.26927	U	0.021793	T	0.05640	0.0148	L	0.31065	0.9	0.09310	N	1	P;P	0.48503	0.911;0.888	B;P	0.56612	0.432;0.802	T	0.12041	-1.0563	10	0.02654	T	1	-20.3259	5.9107	0.19027	0.0:0.8464:0.0:0.1536	.	521;511	B4DI40;Q9UP65	.;PA24C_HUMAN	I	511	ENSP00000346228:V511I;ENSP00000400036:V511I	ENSP00000346228:V511I	V	-	1	0	PLA2G4C	53248115	0.195000	0.23338	0.010000	0.14722	0.009000	0.06853	1.150000	0.31639	0.582000	0.29556	0.404000	0.27445	GTC	-	superfamily_Acyl_Trfase/lysoPlipase		0.468	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	protein_coding	OTTHUMT00000465551.1	C			53248115	-1	no_errors	NM_003706	genbank	human	provisional	54_36p	missense	SNP	0.004	T
MROH7	374977	genome.wustl.edu	37	1	55145093	55145093	+	Missense_Mutation	SNP	G	G	T	rs374825894		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:55145093G>T	ENST00000421030.2	+	12	2492	c.2207G>T	c.(2206-2208)cGc>cTc	p.R736L	MROH7_ENST00000545244.1_Missense_Mutation_p.R304L|MROH7_ENST00000454855.2_Missense_Mutation_p.R254L|MROH7_ENST00000395690.2_Missense_Mutation_p.R736L|MROH7_ENST00000339553.5_Missense_Mutation_p.R736L|MROH7_ENST00000409996.1_Missense_Mutation_p.R304L|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R736L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	736						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAGTGGTACCGCCACAGGGCG	0.662																																																0			1											27.0	35.0	32.0					1																	55145093		2088	4223	6311	54917681	SO:0001583	missense	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2207G>T	1.37:g.55145093G>T	ENSP00000396622:p.Arg736Leu		54917681	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM repeat	p.R736L	ENST00000421030.2	37	c.2207	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932292	0.52866	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.94	1.85	0.25348	.	0.623793	0.13198	N	0.406192	T	0.35480	0.0933	L	0.60455	1.87	0.22684	N	0.998857	D;P;P	0.56035	0.974;0.955;0.785	P;P;B	0.52856	0.625;0.711;0.095	T	0.13388	-1.0511	10	0.42905	T	0.14	-0.1619	3.9737	0.09465	0.1985:0.0:0.6152:0.1863	.	736;736;304	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	L	736;304;765;736;304;254;736	ENSP00000396622:R736L;ENSP00000442333:R304L;ENSP00000343211:R736L;ENSP00000387048:R304L;ENSP00000401130:R254L;ENSP00000379044:R736L	ENSP00000343211:R736L	R	+	2	0	HEATR8	54917681	0.991000	0.36638	0.998000	0.56505	0.914000	0.54420	0.944000	0.29043	0.498000	0.27948	-0.259000	0.10710	CGC	-	superfamily_ARM repeat		0.662	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf175	protein_coding	OTTHUMT00000346978.1	G	NM_198547		54917681	+1	no_errors	NM_001039464	genbank	human	validated	54_36p	missense	SNP	0.989	T
DST	667	genome.wustl.edu	37	6	56399919	56399919	+	Splice_Site	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:56399919C>A	ENST00000361203.3	-	59	16316		c.e59+1		DST_ENST00000421834.2_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000370754.5_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000340834.4_Splice_Site|DST_ENST00000312431.6_Splice_Site			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACTAACTTACCTTTTGTTCT	0.398																																																0			6											160.0	162.0	162.0					6																	56399919		1861	4104	5965	56507878	SO:0001630	splice_region_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16308+1G>T	6.37:g.56399919C>A			56507878	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	-	e54+1	ENST00000361203.3	37	c.10050+1		6	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746418	0.89663	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DST	56507878	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.783000	0.85696	2.814000	0.96858	0.650000	0.86243	.	-	-		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	C	NM_001723	Intron	56507878	-1	no_errors	NM_183380	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56504106	56504106	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:56504106A>G	ENST00000361203.3	-	18	2289	c.2282T>C	c.(2281-2283)aTa>aCa	p.I761T	DST_ENST00000421834.2_Missense_Mutation_p.I761T|DST_ENST00000370769.4_Missense_Mutation_p.I761T|DST_ENST00000370754.5_Missense_Mutation_p.I939T|DST_ENST00000518935.1_Missense_Mutation_p.I435T|DST_ENST00000244364.6_Missense_Mutation_p.I435T|DST_ENST00000446842.2_Missense_Mutation_p.I435T|DST_ENST00000370788.2_Missense_Mutation_p.I761T|DST_ENST00000312431.6_Missense_Mutation_p.I761T|DST_ENST00000370765.6_Missense_Mutation_p.I435T			Q03001	DYST_HUMAN	dystonin	761					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTCTGCTATCTCCTGAAC	0.318																																																0			6											126.0	117.0	120.0					6																	56504106		2203	4300	6503	56612065	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2282T>C	6.37:g.56504106A>G	ENSP00000354508:p.Ile761Thr		56612065	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243	p.I761T	ENST00000361203.3	37	c.2282		6	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918767	0.33908	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.62	4.46	0.54185	.	0.000000	0.56097	D	0.000025	T	0.62600	0.2441	N	0.00746	-1.225	0.33464	D	0.585359	P;B;D;B;P;B;B;B;B;B	0.59357	0.455;0.0;0.985;0.001;0.944;0.012;0.031;0.044;0.0;0.004	B;B;P;B;P;B;B;B;B;B	0.57101	0.12;0.008;0.813;0.008;0.585;0.035;0.038;0.194;0.002;0.021	T	0.70963	-0.4729	9	0.02654	T	1	.	11.6183	0.51102	0.9302:0.0:0.0698:0.0	.	790;761;761;939;877;435;435;435;761;435	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	T	435;939;761;761;435;761;761;761;435;801;435;435	ENSP00000244364:I435T;ENSP00000359790:I939T;ENSP00000359805:I761T;ENSP00000400883:I761T;ENSP00000393645:I435T;ENSP00000307959:I761T;ENSP00000359824:I761T;ENSP00000354508:I761T;ENSP00000404924:I435T;ENSP00000431030:I801T;ENSP00000359801:I435T;ENSP00000431003:I435T	ENSP00000244364:I435T	I	-	2	0	DST	56612065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.466000	0.60148	1.062000	0.40625	0.477000	0.44152	ATA	-	HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	A	NM_001723		56612065	-1	no_errors	NM_183380	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SLC43A3	29015	genome.wustl.edu	37	11	57193099	57193099	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr11:57193099C>T	ENST00000395123.2	-	4	533	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Missense_Mutation_p.G77R|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G77R|SLC43A3_ENST00000533524.1_Missense_Mutation_p.G90R|SLC43A3_ENST00000395124.1_Missense_Mutation_p.G77R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	77					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGAAGGACCCCAGGGTGAAG	0.522																																																0			11											113.0	101.0	105.0					11																	57193099		2201	4296	6497	56949675	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.229G>A	11.37:g.57193099C>T	ENSP00000378555:p.Gly77Arg		56949675	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter	p.G77R	ENST00000395123.2	37	c.229	CCDS7956.1	11	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827242	0.71143	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000529113;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494;ENST00000533245;ENST00000533235;ENST00000524863;ENST00000532795;ENST00000533051	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);	0.202813	0.41294	D	0.000905	D	0.83188	0.5200	M	0.64997	1.995	0.45415	D	0.998393	P;P;P	0.40619	0.687;0.589;0.724	P;P;P	0.46275	0.51;0.46;0.46	D	0.85335	0.1092	10	0.72032	D	0.01	-6.9785	16.4528	0.83997	0.0:1.0:0.0:0.0	.	77;90;77	B4DV87;E7EQD2;Q8NBI5	.;.;S43A3_HUMAN	R	77;77;77;77;90;77;24;77;77;90;77;77;77;77;77;77	ENSP00000378555:G77R;ENSP00000378556:G77R;ENSP00000337561:G77R;ENSP00000436254:G77R;ENSP00000434515:G90R;ENSP00000435893:G77R;ENSP00000434293:G24R;ENSP00000436055:G77R;ENSP00000434913:G77R;ENSP00000435273:G90R;ENSP00000433974:G77R;ENSP00000431762:G77R;ENSP00000435156:G77R;ENSP00000434569:G77R;ENSP00000435109:G77R;ENSP00000435490:G77R	ENSP00000337561:G77R	G	-	1	0	SLC43A3	56949675	1.000000	0.71417	0.972000	0.41901	0.129000	0.20672	6.202000	0.72131	2.405000	0.81733	0.561000	0.74099	GGG	-	superfamily_MFS_gen_substrate_transporter		0.522	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC43A3	protein_coding	OTTHUMT00000393057.1	C	NM_017611		56949675	-1	no_errors	NM_014096	genbank	human	validated	54_36p	missense	SNP	1.000	T
OTX1	5013	genome.wustl.edu	37	2	63282935	63282935	+	Silent	SNP	G	G	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:63282935G>C	ENST00000282549.2	+	5	825	c.549G>C	c.(547-549)tcG>tcC	p.S183S	OTX1_ENST00000366671.3_Silent_p.S183S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	183					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCTCCATCTCGCCAGGCTCAG	0.706																																																0			2											12.0	14.0	13.0					2																	63282935		2188	4284	6472	63136439	SO:0001819	synonymous_variant	5013				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.549G>C	2.37:g.63282935G>C			63136439	A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_TF_Otx	p.S183	ENST00000282549.2	37	c.549	CCDS1873.1	2																																																																																			-	NULL		0.706	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX1	protein_coding	OTTHUMT00000251617.1	G			63136439	+1	no_errors	NM_014562	genbank	human	reviewed	54_36p	silent	SNP	0.621	C
NRXN2	9379	genome.wustl.edu	37	11	64428402	64428402	+	Missense_Mutation	SNP	G	G	T	rs576418675	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr11:64428402G>T	ENST00000377551.1	-	9	2219	c.2008C>A	c.(2008-2010)Ctc>Atc	p.L670I	NRXN2_ENST00000377559.3_Missense_Mutation_p.L639I|NRXN2_ENST00000265459.6_Missense_Mutation_p.L670I|NRXN2_ENST00000409571.1_Missense_Mutation_p.L663I|NRXN2_ENST00000496291.1_5'UTR|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	670	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGGCCCCGGAGGTCTCGGCTA	0.682													G|||	2	0.000399361	0.0	0.0	5008	,	,		17359	0.0		0.0	False		,,,				2504	0.002															0			11											37.0	37.0	37.0					11																	64428402		2201	4297	6498	64184978	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2008C>A	11.37:g.64428402G>T	ENSP00000366774:p.Leu670Ile		64184978	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294	p.L670I	ENST00000377551.1	37	c.2008	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	2.883	-0.231336	0.05983	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.186657	0.23517	U	0.047339	T	0.49201	0.1543	N	0.11106	0.095	0.37290	D	0.908215	B;B;B	0.15930	0.002;0.015;0.009	B;B;B	0.15484	0.013;0.01;0.009	T	0.49418	-0.8942	10	0.02654	T	1	.	9.9422	0.41587	0.0:0.0:0.7974:0.2026	.	639;670;416	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	I	670;639;670;639;663	ENSP00000366774:L670I;ENSP00000366782:L639I;ENSP00000265459:L670I;ENSP00000386416:L663I	ENSP00000265459:L670I	L	-	1	0	NRXN2	64184978	0.995000	0.38212	0.999000	0.59377	0.962000	0.63368	0.351000	0.20096	2.355000	0.79922	0.555000	0.69702	CTC	-	superfamily_Concanavalin A-like lectins/glucanases		0.682	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	protein_coding	OTTHUMT00000104967.3	G	NM_015080		64184978	-1	no_errors	NM_015080	genbank	human	reviewed	54_36p	missense	SNP	0.489	T
Unknown	0	genome.wustl.edu	37	9	68357169	68357169	+	IGR	SNP	G	G	A	rs200208002		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr9:68357169G>A								RP11-149F8.5 (16525 upstream) : RP11-764K9.1 (40708 downstream)																							TCCACAGGCTGTCGATCTCTG	0.358																																																0			9																																								67846989	SO:0001628	intergenic_variant	0																															9.37:g.68357169G>A			67846989		RNA	SNP	-	NULL		37	NULL		9																																																																																			-	-	0	0.358					LOC441442			G			67846989	-1	pseudogene	XR_037084	genbank	human	model	54_36p	rna	SNP	0.336	A
ZNF366	167465	genome.wustl.edu	37	5	71739940	71739940	+	Nonsense_Mutation	SNP	G	G	T	rs373642159		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr5:71739940G>T	ENST00000318442.5	-	5	2368	c.1878C>A	c.(1876-1878)taC>taA	p.Y626*	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	626	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTCCACCTCGTAGCAGTTAT	0.667																																																0			5											94.0	108.0	103.0					5																	71739940		2203	4300	6503	71775696	SO:0001587	stop_gained	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1878C>A	5.37:g.71739940G>T	ENSP00000313158:p.Tyr626*		71775696	Q5HYI9|Q7RTV4	Nonsense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Y626*	ENST00000318442.5	37	c.1878	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.313387	0.98203	.	.	ENSG00000178175	ENST00000318442	.	.	.	5.78	-7.21	0.01490	.	0.868154	0.10255	N	0.696665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.173	17.8813	0.88841	0.6695:0.0:0.3305:0.0	.	.	.	.	X	626	.	ENSP00000313158:Y626X	Y	-	3	2	ZNF366	71775696	0.385000	0.25172	0.000000	0.03702	0.206000	0.24218	-0.180000	0.09754	-1.491000	0.01840	-0.136000	0.14681	TAC	-	NULL		0.667	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	protein_coding	OTTHUMT00000218574.3	G			71775696	-1	no_errors	NM_152625	genbank	human	provisional	54_36p	nonsense	SNP	0.032	T
UBE2O	63893	genome.wustl.edu	37	17	74394418	74394418	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr17:74394418T>G	ENST00000319380.7	-	12	2007	c.1943A>C	c.(1942-1944)cAc>cCc	p.H648P	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	648					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AAAGTCAGGGTGGTCAGCAAT	0.517											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											411.0	359.0	377.0					17																	74394418		2203	4300	6503	71906013	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1943A>C	17.37:g.74394418T>G	ENSP00000323687:p.His648Pro	1152	71906013	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con	p.H648P	ENST00000319380.7	37	c.1943	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	T	28.5	4.927665	0.92389	.	.	ENSG00000175931	ENST00000319380	T	0.79749	-1.3	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	M	0.77103	2.36	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	D	0.90890	0.4760	10	0.87932	D	0	-27.103	15.7888	0.78332	0.0:0.0:0.0:1.0	.	648	Q9C0C9	UBE2O_HUMAN	P	648	ENSP00000323687:H648P	ENSP00000323687:H648P	H	-	2	0	UBE2O	71906013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.008000	0.88588	2.144000	0.66660	0.460000	0.39030	CAC	-	NULL		0.517	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	protein_coding	OTTHUMT00000450123.1	T	NM_022066		71906013	-1	no_errors	NM_022066	genbank	human	validated	54_36p	missense	SNP	1.000	G
KIAA2022	340533	genome.wustl.edu	37	X	73960360	73960360	+	Silent	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:73960360G>T	ENST00000055682.6	-	3	4643	c.4032C>A	c.(4030-4032)ccC>ccA	p.P1344P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1344					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGTGCTCCATGGGTTCCCAAA	0.473																																																0			X											70.0	66.0	67.0					X																	73960360		2203	4300	6503	73877085	SO:0001819	synonymous_variant	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4032C>A	X.37:g.73960360G>T			73877085	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.P1344	ENST00000055682.6	37	c.4032	CCDS35337.1	X																																																																																			-	NULL		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	G	NM_001008537		73877085	-1	no_errors	NM_001008537	genbank	human	validated	54_36p	silent	SNP	1.000	T
STIP1P3	441505	genome.wustl.edu	37	X	85341092	85341092	+	IGR	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:85341092G>A								CHM (38526 upstream) : DACH2 (62369 downstream)																							ATCGGTTTAAGAACTCTAGAG	0.473																																																0			X																																								85227748	SO:0001628	intergenic_variant	441505																															X.37:g.85341092G>A			85227748		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.473					LOC441505			G			85227748	-1	pseudogene	XR_016229	genbank	human	model	54_36p	rna	SNP	1.000	A
RASA1	5921	genome.wustl.edu	37	5	86681167	86681167	+	Silent	SNP	T	T	G			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr5:86681167T>G	ENST00000274376.6	+	22	3372	c.2808T>G	c.(2806-2808)tcT>tcG	p.S936S	RASA1_ENST00000506290.1_Silent_p.S770S|RASA1_ENST00000512763.1_Silent_p.S769S|RASA1_ENST00000456692.2_Silent_p.S759S	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	936	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGGCTAAATCTGTGCAGAACT	0.363																																																0			5											120.0	107.0	111.0					5																	86681167		2203	4300	6503	86716923	SO:0001819	synonymous_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2808T>G	5.37:g.86681167T>G			86716923	B2R6W3|Q9UDI1	Silent	SNP	superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1	p.S936	ENST00000274376.6	37	c.2808	CCDS34200.1	5																																																																																			-	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	protein_coding	OTTHUMT00000369729.1	T	NM_002890		86716923	+1	no_errors	NM_002890	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
CEP290	80184	genome.wustl.edu	37	12	88456492	88456492	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:88456492G>A	ENST00000552810.1	-	46	6677	c.6334C>T	c.(6334-6336)Cgg>Tgg	p.R2112W	CEP290_ENST00000309041.7_Missense_Mutation_p.R2114W|CEP290_ENST00000397838.3_Missense_Mutation_p.R1172W|CEP290_ENST00000547691.2_Missense_Mutation_p.R1172W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2112					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCAAGTTTCCGCTGAACTTCT	0.328																																																0			12											126.0	114.0	118.0					12																	88456492		1863	4102	5965	86980623	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6334C>T	12.37:g.88456492G>A	ENSP00000448012:p.Arg2112Trp		86980623	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.R2112W	ENST00000552810.1	37	c.6334	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285700	0.59867	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.68624	0.29;-0.34;-0.34;0.29	5.93	1.54	0.23209	.	0.105906	0.64402	D	0.000012	T	0.75376	0.3841	L	0.57536	1.79	0.33573	D	0.598905	D	0.76494	0.999	P	0.61722	0.893	D	0.83514	0.0082	10	0.72032	D	0.01	.	15.6663	0.77234	0.0:0.0:0.5281:0.4719	.	2112	O15078	CE290_HUMAN	W	1172;2112;2114;1172	ENSP00000446905:R1172W;ENSP00000448012:R2112W;ENSP00000308021:R2114W;ENSP00000380938:R1172W	ENSP00000308021:R2114W	R	-	1	2	CEP290	86980623	0.606000	0.26949	0.927000	0.36925	0.791000	0.44710	0.800000	0.27042	0.381000	0.24851	-0.182000	0.12963	CGG	-	NULL		0.328	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114		86980623	-1	no_errors	NM_025114	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
BARHL2	343472	genome.wustl.edu	37	1	91180265	91180265	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:91180265G>C	ENST00000370445.4	-	2	715	c.674C>G	c.(673-675)cCc>cGc	p.P225R		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	225					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TCTCACAGGGGGACTCTCACG	0.547																																					GBM(199;3561 4100 22440)											0			1											156.0	155.0	155.0					1																	91180265		2203	4300	6503	90952853	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.674C>G	1.37:g.91180265G>C	ENSP00000359474:p.Pro225Arg		90952853	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.P225R	ENST00000370445.4	37	c.674	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720659	0.68959	.	.	ENSG00000143032	ENST00000370445	D	0.95588	-3.75	5.1	5.1	0.69264	Homeodomain-related (1);Homeodomain-like (1);	0.059845	0.64402	D	0.000002	D	0.94922	0.8358	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93721	0.7033	10	0.26408	T	0.33	.	17.1014	0.86651	0.0:0.0:1.0:0.0	.	225	Q9NY43	BARH2_HUMAN	R	225	ENSP00000359474:P225R	ENSP00000359474:P225R	P	-	2	0	BARHL2	90952853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.233000	0.95337	2.348000	0.79779	0.655000	0.94253	CCC	-	superfamily_Homeodomain_like		0.547	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	protein_coding	OTTHUMT00000027728.2	G			90952853	-1	no_errors	NM_020063	genbank	human	validated	54_36p	missense	SNP	1.000	C
SLC15A1	6564	genome.wustl.edu	37	13	99362120	99362120	+	Splice_Site	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr13:99362120C>T	ENST00000376503.5	-	12	1001		c.e12+1			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTCAAACTTACGATTTTCCCG	0.378																																																0			13											114.0	112.0	113.0					13																	99362120		2203	4300	6503	98160121	SO:0001630	splice_region_variant	6564			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.945+1G>A	13.37:g.99362120C>T			98160121	Q5VW82	Splice_Site	SNP	-	e12+1	ENST00000376503.5	37	c.945+1	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465195	0.63513	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2541	0.87050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98160121	1.000000	0.71417	0.999000	0.59377	0.524000	0.34500	6.970000	0.76099	2.667000	0.90743	0.561000	0.74099	.	-	-		0.378	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	protein_coding	OTTHUMT00000045560.3	C	NM_005073	Intron	98160121	-1	no_errors	NM_005073	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
SLC5A8	160728	genome.wustl.edu	37	12	101560305	101560305	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:101560305G>C	ENST00000536262.2	-	12	2051	c.1493C>G	c.(1492-1494)aCt>aGt	p.T498S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACACTAGTAGTAAATGGCAT	0.343																																					GBM(60;420 1056 13605 22380 47675)											0			12											107.0	101.0	103.0					12																	101560305		2203	4300	6503	100084436	SO:0001583	missense	160728			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1493C>G	12.37:g.101560305G>C	ENSP00000445340:p.Thr498Ser		100084436		Missense_Mutation	SNP	HMMPfam_SSF	p.T498S	ENST00000536262.2	37	c.1493	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.307449	0.01342	.	.	ENSG00000256870	ENST00000536262	D	0.85702	-2.02	5.24	3.36	0.38483	.	0.700866	0.13280	N	0.399811	T	0.64249	0.2581	N	0.04132	-0.27	0.28254	N	0.925146	B	0.02656	0.0	B	0.01281	0.0	T	0.52924	-0.8510	10	0.13108	T	0.6	.	5.6822	0.17782	0.0982:0.0:0.7063:0.1955	.	498	Q8N695	SC5A8_HUMAN	S	498	ENSP00000445340:T498S	ENSP00000445340:T498S	T	-	2	0	SLC5A8	100084436	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	2.372000	0.44257	1.162000	0.42619	0.655000	0.94253	ACT	-	NULL		0.343	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	protein_coding	OTTHUMT00000409401.1	G	NM_145913		100084436	-1	no_errors	NM_145913	genbank	human	validated	54_36p	missense	SNP	0.999	C
TCEAL4	79921	genome.wustl.edu	37	X	102841740	102841740	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:102841740A>C	ENST00000472745.1	+	3	689	c.137A>C	c.(136-138)aAg>aCg	p.K46T	TCEAL4_ENST00000415568.2_Missense_Mutation_p.K46T|TCEAL4_ENST00000372629.4_Missense_Mutation_p.K189T|TCEAL4_ENST00000468024.1_Missense_Mutation_p.K46T|TCEAL4_ENST00000494801.1_Missense_Mutation_p.K46T|TCEAL4_ENST00000472484.1_Missense_Mutation_p.K46T			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	46	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						aacgagggaaagacagaaaac	0.428																																																0			X											87.0	89.0	88.0					X																	102841740		2189	4288	6477	102728396	SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.137A>C	X.37:g.102841740A>C	ENSP00000424314:p.Lys46Thr		102728396	Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	HMMPfam_TFA	p.K46T	ENST00000472745.1	37	c.137	CCDS14510.2	X	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351510	0.41700	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000490644;ENST00000459722;ENST00000472745;ENST00000494801;ENST00000434216;ENST00000425011;ENST00000469586	T;T;T;T;T;T;T;T;T;T;T	0.59083	1.61;2.79;2.79;2.79;1.23;1.12;2.79;2.79;0.29;0.59;1.65	3.67	-0.465	0.12157	.	1.458850	0.04673	N	0.411022	T	0.63224	0.2493	M	0.65498	2.005	0.09310	N	1	D	0.56746	0.977	P	0.54060	0.741	T	0.49072	-0.8977	10	0.59425	D	0.04	.	2.4583	0.04535	0.4286:0.0:0.1372:0.4343	.	46	Q96EI5	TCAL4_HUMAN	T	189;46;46;46;46;46;46;46;46;46;46;46	ENSP00000361712:K189T;ENSP00000421857:K46T;ENSP00000421156:K46T;ENSP00000415564:K46T;ENSP00000425883:K46T;ENSP00000423723:K46T;ENSP00000424314:K46T;ENSP00000427494:K46T;ENSP00000411320:K46T;ENSP00000394029:K46T;ENSP00000427053:K46T	ENSP00000361712:K189T	K	+	2	0	TCEAL4	102728396	0.823000	0.29233	0.001000	0.08648	0.392000	0.30506	0.187000	0.16998	-0.155000	0.11098	0.427000	0.28365	AAG	-	HMMPfam_TFA		0.428	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCEAL4	protein_coding	OTTHUMT00000252339.2	A	NM_024863		102728396	+1	no_errors	NM_001006935	genbank	human	reviewed	54_36p	missense	SNP	0.014	C
CHST11	50515	genome.wustl.edu	37	12	104908072	104908072	+	Intron	SNP	T	T	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:104908072T>C	ENST00000303694.5	+	1	557				CHST11_ENST00000549260.1_Intron|CHST11_ENST00000546689.1_Intron|CHST11_ENST00000547956.1_Intron	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11						carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATTGGAGCGGTGTTTGGCAGC	0.557																																																0			12																																								103432202	SO:0001627	intron_variant	0			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.118+56765T>C	12.37:g.104908072T>C			103432202	A8K4F8|Q9NXY6|Q9NY36	RNA	SNP	-	NULL	ENST00000303694.5	37	NULL	CCDS9099.1	12																																																																																			-	-		0.557	CHST11-001	KNOWN	basic|CCDS	protein_coding	LOC100130492	protein_coding	OTTHUMT00000405960.2	T	NM_018413		103432202	+1	pseudogene	XR_038654	genbank	human	model	54_36p	rna	SNP	1.000	C
AK9	221264	genome.wustl.edu	37	6	109815288	109815288	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:109815288G>A	ENST00000424296.2	-	40	5505	c.5429C>T	c.(5428-5430)aCt>aTt	p.T1810I	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1810					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AATTAGAGAAGTTGCAATACC	0.373																																																0			6											54.0	56.0	56.0					6																	109815288		2203	4300	6503	109921981	SO:0001583	missense	222521			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5429C>T	6.37:g.109815288G>A	ENSP00000410186:p.Thr1810Ile		109921981	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	NULL	p.T209I	ENST00000424296.2	37	c.626	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.227|9.227	1.034949|1.034949	0.19590|0.19590	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000424296	.|T	.|0.65732	.|-0.17	5.49|5.49	4.6|4.6	0.57074|0.57074	.|.	.|0.592917	.|0.19374	.|N	.|0.115838	T|T	0.53318|0.53318	0.1789|0.1789	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46457	.|0.878;0.868	.|B;B	.|0.42112	.|0.376;0.307	T|T	0.59129|0.59129	-0.7512|-0.7512	5|9	.|.	.|.	.|.	.|.	15.4282|15.4282	0.75072|0.75072	0.0:0.0:0.86:0.14|0.0:0.0:0.86:0.14	.|.	.|195;1810	.|B7ZL24;Q5TCS8	.|.;AKD1_HUMAN	F|I	648|1810	.|ENSP00000410186:T1810I	.|.	L|T	-|-	1|2	0|0	AKD1|AKD1	109921981|109921981	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.235000|0.235000	0.25334|0.25334	3.259000|3.259000	0.51515|0.51515	1.270000|1.270000	0.44297|0.44297	0.650000|0.650000	0.86243|0.86243	CTT|ACT	-	NULL		0.373	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf224	protein_coding		G	NM_001145128		109921981	-1	no_errors	NM_173559	genbank	human	predicted	54_36p	missense	SNP	0.979	A
TSPYL1	7259	genome.wustl.edu	37	6	116599937	116599937	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:116599937T>A	ENST00000368608.3	-	1	1129	c.1057A>T	c.(1057-1059)Act>Tct	p.T353S	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000540275.1_Intron|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	353					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ATAATTGGAGTAGAAAGAGAC	0.468																																																0			6											98.0	105.0	102.0					6																	116599937		2203	4300	6503	116706630	SO:0001583	missense	7259			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.1057A>T	6.37:g.116599937T>A	ENSP00000357597:p.Thr353Ser		116706630	O75885|Q5TFE6	Missense_Mutation	SNP	HMMPfam_NAP	p.T353S	ENST00000368608.3	37	c.1057	CCDS34518.1	6	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184718	0.78677	.	.	ENSG00000189241	ENST00000368608	T	0.35973	1.28	4.32	4.32	0.51571	.	0.000000	0.38111	N	0.001817	T	0.36963	0.0986	L	0.60012	1.86	0.43226	D	0.995118	P	0.41597	0.756	P	0.53988	0.739	T	0.22452	-1.0216	10	0.56958	D	0.05	-14.2794	10.1619	0.42858	0.0:0.0:0.0:1.0	.	353	Q9H0U9	TSYL1_HUMAN	S	353	ENSP00000357597:T353S	ENSP00000357597:T353S	T	-	1	0	TSPYL1	116706630	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	3.946000	0.56644	2.175000	0.68902	0.459000	0.35465	ACT	-	HMMPfam_NAP		0.468	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL1	protein_coding	OTTHUMT00000041929.1	T			116706630	-1	no_errors	NM_003309	genbank	human	validated	54_36p	missense	SNP	0.998	A
TBX15	6913	genome.wustl.edu	37	1	119427800	119427800	+	Missense_Mutation	SNP	G	G	A	rs141953431		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:119427800G>A	ENST00000369429.3	-	8	1373	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	TBX15_ENST00000207157.3_Missense_Mutation_p.S349L			Q96SF7	TBX15_HUMAN	T-box 15	455					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S349L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GCCAGGCAACGAGGGAGGAGT	0.562																																																1	Substitution - Missense(1)	skin(1)	1						G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	72.0	65.0	68.0		1046	5.3	1.0	1	dbSNP_134	68	0,8600		0,0,4300	no	missense	TBX15	NM_152380.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	349/497	119427800	1,13005	2203	4300	6503	119229323	SO:0001583	missense	6913			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1364C>T	1.37:g.119427800G>A	ENSP00000358437:p.Ser455Leu		119229323	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2	p.S349L	ENST00000369429.3	37	c.1046		1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693546	0.68386	2.27E-4	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;T	0.88896	-2.44;-2.38;-1.39	5.31	5.31	0.75309	.	0.374925	0.27871	N	0.017511	D	0.90089	0.6904	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.56563	0.801;0.736	D	0.89836	0.3999	10	0.54805	T	0.06	.	19.1626	0.93539	0.0:0.0:1.0:0.0	.	252;455	E9PCG3;Q96SF7	.;TBX15_HUMAN	L	252;349;455;183;182	ENSP00000207157:S349L;ENSP00000358437:S455L;ENSP00000398625:S183L	ENSP00000207157:S349L	S	-	2	0	TBX15	119229323	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	6.320000	0.72876	2.768000	0.95171	0.561000	0.74099	TCG	-	NULL		0.562	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	protein_coding	OTTHUMT00000034351.1	G	NM_152380		119229323	-1	no_errors	NM_152380	genbank	human	validated	54_36p	missense	SNP	1.000	A
GSN	2934	genome.wustl.edu	37	9	124089748	124089748	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr9:124089748G>A	ENST00000373818.4	+	13	1972	c.1903G>A	c.(1903-1905)Ggc>Agc	p.G635S	GSN_ENST00000436847.1_Missense_Mutation_p.G595S|GSN_ENST00000412819.1_Missense_Mutation_p.G584S|GSN_ENST00000373807.1_Missense_Mutation_p.G366S|GSN_ENST00000341272.2_Missense_Mutation_p.G584S|GSN_ENST00000545652.1_Missense_Mutation_p.G592S|GSN_ENST00000449733.1_Missense_Mutation_p.G584S|GSN_ENST00000373808.2_Missense_Mutation_p.G584S|GSN_ENST00000373806.1_Missense_Mutation_p.G60S|GSN_ENST00000394353.2_Missense_Mutation_p.G595S|GSN_ENST00000373823.3_Missense_Mutation_p.G584S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	635	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTGGCAGAAGGCAGCGAGCC	0.647																																																0			9											11.0	13.0	13.0					9																	124089748		2196	4282	6478	123129569	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1903G>A	9.37:g.124089748G>A	ENSP00000362924:p.Gly635Ser		123129569	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin	p.G635S	ENST00000373818.4	37	c.1903	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.193452	0.94960	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.86	4.97	0.65823	Gelsolin domain (1);	0.046742	0.85682	D	0.000000	T	0.72104	0.3419	M	0.90922	3.16	0.80722	D	1	D;D;D;P;D	0.89917	0.981;0.999;0.999;0.824;1.0	D;D;D;P;D	0.91635	0.912;0.999;0.994;0.53;0.999	T	0.79722	-0.1684	10	0.59425	D	0.04	-34.4765	16.6754	0.85277	0.0:0.1295:0.8705:0.0	.	608;592;595;366;635	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	S	584;595;595;584;584;584;584;568;558;592;635;366;60;60	ENSP00000362929:G584S;ENSP00000411293:G595S;ENSP00000377882:G595S;ENSP00000409358:G584S;ENSP00000416586:G584S;ENSP00000340888:G584S;ENSP00000362914:G584S;ENSP00000445823:G592S;ENSP00000362924:G635S;ENSP00000362913:G366S;ENSP00000362912:G60S	ENSP00000340888:G584S	G	+	1	0	GSN	123129569	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.974000	0.76122	1.635000	0.50512	-0.133000	0.14855	GGC	-	superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin		0.647	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	protein_coding	OTTHUMT00000053861.1	G	NM_000177		123129569	+1	no_errors	NM_000177	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NEK11	79858	genome.wustl.edu	37	3	130748709	130748709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:130748709C>T	ENST00000510769.1	+	2	410	c.157C>T	c.(157-159)Cga>Tga	p.R53*	NEK11_ENST00000356918.4_Nonsense_Mutation_p.R53*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.R53*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.R53*|NEK11_ENST00000383366.4_Nonsense_Mutation_p.R53*|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000507910.1_Nonsense_Mutation_p.R53*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.R53*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.R53*					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GAAAGCCAAACGAGGAGAGGA	0.413																																																0			3											110.0	107.0	108.0					3																	130748709		2203	4300	6503	132231399	SO:0001587	stop_gained	79858			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.157C>T	3.37:g.130748709C>T	ENSP00000421549:p.Arg53*		132231399		Nonsense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.R53*	ENST00000510769.1	37	c.157		3	.	.	.	.	.	.	.	.	.	.	C	34	5.412624	0.96072	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	.	.	.	5.65	3.84	0.44239	.	0.682591	0.12665	N	0.449241	.	.	.	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	11.6802	0.51453	0.1284:0.5001:0.3715:0.0	.	.	.	.	X	53	.	ENSP00000349389:R53X	R	+	1	2	NEK11	132231399	0.693000	0.27728	0.039000	0.18376	0.851000	0.48451	0.456000	0.21859	0.724000	0.32296	0.655000	0.94253	CGA	-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.413	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	protein_coding	OTTHUMT00000356757.1	C	NM_024800		132231399	+1	no_errors	NM_024800	genbank	human	reviewed	54_36p	nonsense	SNP	0.939	T
WDR91	29062	genome.wustl.edu	37	7	134893552	134893552	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr7:134893552G>T	ENST00000354475.4	-	3	533	c.502C>A	c.(502-504)Cag>Aag	p.Q168K	WDR91_ENST00000423565.1_Missense_Mutation_p.Q133K|WDR91_ENST00000344400.5_Missense_Mutation_p.Q168K|WDR91_ENST00000485942.1_5'Flank	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	168										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCATGCACTGAAACAGGACG	0.562																																																0			7											79.0	66.0	71.0					7																	134893552		2203	4300	6503	134544092	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.502C>A	7.37:g.134893552G>T	ENSP00000346466:p.Gln168Lys		134544092	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.Q168K	ENST00000354475.4	37	c.502	CCDS34758.1	7	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538817	0.65085	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91686	-2.89;-2.89;-2.89	5.77	4.88	0.63580	.	0.338611	0.36482	N	0.002561	D	0.90903	0.7141	L	0.61387	1.9	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	D	0.87676	0.2544	10	0.38643	T	0.18	-12.8573	17.3249	0.87244	0.0:0.1251:0.8749:0.0	.	168	A4D1P6	WDR91_HUMAN	K	168;168;133	ENSP00000340877:Q168K;ENSP00000346466:Q168K;ENSP00000392555:Q133K	ENSP00000340877:Q168K	Q	-	1	0	WDR91	134544092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.898000	0.87363	1.552000	0.49463	0.650000	0.86243	CAG	-	NULL		0.562	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	protein_coding	OTTHUMT00000340019.1	G	NM_014149		134544092	-1	no_errors	NM_014149	genbank	human	validated	54_36p	missense	SNP	1.000	T
TRIM24	8805	genome.wustl.edu	37	7	138145908	138145908	+	Intron	SNP	T	T	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr7:138145908T>C	ENST00000343526.4	+	1	579				TRIM24_ENST00000415680.2_Intron|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24						calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGCTCCGCATTCTCAACAGCC	0.692																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											0			7											9.0	10.0	10.0					7																	138145908		866	1981	2847	137796448	SO:0001627	intron_variant	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.364+251T>C	7.37:g.138145908T>C			137796448	A4D1R7|A4D1R8|O95854	Silent	SNP	HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502	p.I33	ENST00000343526.4	37	c.99	CCDS5847.1	7																																																																																			-	NULL		0.692	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	protein_coding	OTTHUMT00000341814.1	T	NM_015905		137796448	+1	no_errors	ENST00000378381	ensembl	human	known	54_36p	silent	SNP	0.000	C
SLC35G2	80723	genome.wustl.edu	37	3	136573405	136573405	+	Missense_Mutation	SNP	G	G	A	rs150150766		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:136573405G>A	ENST00000446465.2	+	2	731	c.103G>A	c.(103-105)Gat>Aat	p.D35N	SLC35G2_ENST00000393079.3_Missense_Mutation_p.D35N|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		CCAGCCTGGCGATGATGGATA	0.383																																																0			3						G	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	144.0	160.0	155.0		103,103,103	5.5	1.0	3	dbSNP_134	155	3,8593	3.0+/-9.4	0,3,4295	no	missense,missense,missense	TMEM22	NM_001097599.1,NM_001097600.1,NM_025246.2	23,23,23	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	35/413,35/413,35/413	136573405	3,12999	2203	4298	6501	138056095	SO:0001583	missense	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.103G>A	3.37:g.136573405G>A	ENSP00000400839:p.Asp35Asn		138056095		Missense_Mutation	SNP	HMMPfam_DUF6,superfamily_SSF103481	p.D35N	ENST00000446465.2	37	c.103	CCDS3091.1	3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382122	0.61845	0.0	3.49E-4	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.31769	1.48;1.48	5.46	5.46	0.80206	.	0.202922	0.50627	D	0.000117	T	0.28928	0.0718	L	0.46157	1.445	0.58432	D	0.999999	P	0.51653	0.947	B	0.37508	0.252	T	0.16778	-1.0391	10	0.72032	D	0.01	.	17.8606	0.88780	0.0:0.0:1.0:0.0	.	35	Q8TBE7	TMM22_HUMAN	N	35	ENSP00000400839:D35N;ENSP00000376794:D35N	ENSP00000376794:D35N	D	+	1	0	TMEM22	138056095	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.356000	0.79445	2.567000	0.86603	0.491000	0.48974	GAT	-	NULL		0.383	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM22	protein_coding	OTTHUMT00000357317.1	G	NM_025246		138056095	+1	no_errors	NM_001097599	genbank	human	validated	54_36p	missense	SNP	1.000	A
CEP70	80321	genome.wustl.edu	37	3	138213919	138213919	+	Splice_Site	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:138213919C>T	ENST00000264982.3	-	18	1999		c.e18-1		CEP70_ENST00000489254.1_Splice_Site|CEP70_ENST00000484888.1_Splice_Site|CEP70_ENST00000542237.1_Splice_Site	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCATCAATTTCTGTAATACAA	0.294																																																0			3											45.0	47.0	47.0					3																	138213919		2199	4290	6489	139696609	SO:0001630	splice_region_variant	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1733-1G>A	3.37:g.138213919C>T			139696609	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Splice_Site	SNP	-	e16-1	ENST00000264982.3	37	c.1733-1	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576400	0.65878	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2622	0.60111	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP70	139696609	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.058000	0.57463	2.578000	0.87016	0.650000	0.86243	.	-	-		0.294	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	protein_coding	OTTHUMT00000358001.1	C	NM_024491	Intron	139696609	-1	no_errors	NM_024491	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
IDS	3423	genome.wustl.edu	37	X	148584724	148584724	+	Intron	SNP	C	C	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:148584724C>T	ENST00000340855.6	-	3	628				IDS_ENST00000427113.2_Intron|IDS_ENST00000370443.4_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.R179H|IDS_ENST00000422081.2_Intron|IDS_ENST00000490775.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACTGACTAGCGAGGGACTCG	0.502																																																0			X																																								148392629	SO:0001627	intron_variant	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.418+117G>A	X.37:g.148584724C>T			148392629	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2	p.R179H	ENST00000340855.6	37	c.536	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	3.850	-0.032056	0.07543	.	.	ENSG00000010404	ENST00000428056	D	0.99436	-5.9	3.77	-7.55	0.01327	.	.	.	.	.	D	0.96491	0.8855	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.92232	0.5793	8	0.39692	T	0.17	.	2.6974	0.05138	0.1023:0.3635:0.275:0.2592	.	179	O60597	.	H	179	ENSP00000390241:R179H	ENSP00000390241:R179H	R	-	2	0	IDS	148392629	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.510000	0.00959	-1.682000	0.01446	-1.989000	0.00450	CGC	-	NULL		0.502	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	protein_coding	OTTHUMT00000058677.3	C			148392629	-1	no_errors	ENST00000370438	ensembl	human	known	54_36p	missense	SNP	0.000	T
GALNT5	11227	genome.wustl.edu	37	2	158115030	158115030	+	Missense_Mutation	SNP	G	G	A	rs112355701	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:158115030G>A	ENST00000259056.4	+	1	921	c.436G>A	c.(436-438)Ggg>Agg	p.G146R		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	146					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GAAGACAGACGGGAGAGGCAC	0.547													g|||	49	0.00978435	0.0348	0.0043	5008	,	,		17043	0.0		0.0	False		,,,				2504	0.0															0			2						A	ARG/GLY	106,4300	82.9+/-121.4	1,104,2098	65.0	67.0	66.0		436	2.8	0.0	2	dbSNP_132	66	0,8600		0,0,4300	yes	missense	GALNT5	NM_014568.1	125	1,104,6398	AA,AG,GG		0.0,2.4058,0.815	benign	146/941	158115030	106,12900	2203	4300	6503	157823276	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.436G>A	2.37:g.158115030G>A	ENSP00000259056:p.Gly146Arg		157823276	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	superfamily_Nucleotide-diphospho-sugar transferases,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin	p.G146R	ENST00000259056.4	37	c.436	CCDS2203.1	2	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	g	11.34	1.610893	0.28712	0.024058	0.0	ENSG00000136542	ENST00000259056	T	0.57907	0.37	5.51	2.78	0.32641	.	2.054810	0.01854	N	0.036128	T	0.24851	0.0603	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.14200	-1.0481	10	0.34782	T	0.22	.	5.5498	0.17083	0.2367:0.1425:0.6208:0.0	.	146	Q7Z7M9	GALT5_HUMAN	R	146	ENSP00000259056:G146R	ENSP00000259056:G146R	G	+	1	0	GALNT5	157823276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.148000	0.10219	0.398000	0.25338	-1.551000	0.00897	GGG	-	NULL		0.547	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	protein_coding	OTTHUMT00000254925.2	G	NM_014568		157823276	+1	no_errors	NM_014568	genbank	human	provisional	54_36p	missense	SNP	0.001	A
TIPARP	25976	genome.wustl.edu	37	3	156395504	156395504	+	Silent	SNP	C	C	T	rs190841318		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr3:156395504C>T	ENST00000461166.1	+	2	606	c.18C>T	c.(16-18)acC>acT	p.T6T	TIPARP_ENST00000295924.7_Silent_p.T6T|TIPARP_ENST00000486483.1_Silent_p.T6T|TIPARP_ENST00000542783.1_Silent_p.T6T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	6					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGAAACCACCGAACCTGAGC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		17793	0.001		0.0	False		,,,				2504	0.0				Ovarian(171;276 1987 3319 6837 11197)											0			3											92.0	94.0	93.0					3																	156395504		2203	4300	6503	157878198	SO:0001819	synonymous_variant	25976			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.18C>T	3.37:g.156395504C>T			157878198	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	HMMPfam_zf-CCCH,superfamily_SSF56399,HMMPfam_PARP	p.T6	ENST00000461166.1	37	c.18	CCDS3177.1	3																																																																																			-	NULL		0.448	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	protein_coding	OTTHUMT00000351618.1	C	NM_015508		157878198	+1	no_errors	NM_015508	genbank	human	provisional	54_36p	silent	SNP	0.585	T
LPA	4018	genome.wustl.edu	37	6	161027559	161027559	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr6:161027559G>A	ENST00000316300.5	-	17	2779	c.2735C>T	c.(2734-2736)gCg>gTg	p.A912V	LPA_ENST00000447678.1_Missense_Mutation_p.A912V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3420	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.A912V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTTGGAGGCGCGACGGCAGT	0.537																																																1	Substitution - Missense(1)	large_intestine(1)	6											101.0	105.0	104.0					6																	161027559		2051	4248	6299	160947549	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2735C>T	6.37:g.161027559G>A	ENSP00000321334:p.Ala912Val		160947549	Q5VTD7|Q9UD88	Missense_Mutation	SNP	superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.A912V	ENST00000316300.5	37	c.2735	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	10.17	1.276915	0.23307	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61274	0.12;0.12	2.18	-4.36	0.03645	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.18593	0.0446	L	0.42245	1.32	0.09310	N	1	D	0.58620	0.983	B	0.38985	0.287	T	0.08249	-1.0731	9	0.36615	T	0.2	.	4.1326	0.10156	0.0:0.2071:0.3159:0.4769	.	3420	P08519	APOA_HUMAN	V	912	ENSP00000321334:A912V;ENSP00000395608:A912V	ENSP00000321334:A912V	A	-	2	0	LPA	160947549	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.202000	0.03023	-1.481000	0.01863	0.184000	0.17185	GCG	-	superfamily_Kringle-like		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	protein_coding	OTTHUMT00000042957.1	G	NM_005577		160947549	-1	no_errors	NM_005577	genbank	human	validated	54_36p	missense	SNP	0.000	A
FIGN	55137	genome.wustl.edu	37	2	164468235	164468235	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:164468235G>T	ENST00000333129.3	-	3	421	c.107C>A	c.(106-108)gCc>gAc	p.A36D	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	36					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AACTTTGTGGGCAGGAGACCG	0.517																																																0			2											105.0	106.0	106.0					2																	164468235		2081	4231	6312	164176481	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.107C>A	2.37:g.164468235G>T	ENSP00000333836:p.Ala36Asp		164176481	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,PatternScan_AAA	p.A36D	ENST00000333129.3	37	c.107	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333599	0.81801	.	.	ENSG00000182263	ENST00000333129	T	0.32515	1.45	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	T	0.57814	0.2079	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.53121	-0.8483	10	0.59425	D	0.04	-12.6081	20.8794	0.99867	0.0:0.0:1.0:0.0	.	36	Q5HY92	FIGN_HUMAN	D	36	ENSP00000333836:A36D	ENSP00000333836:A36D	A	-	2	0	FIGN	164176481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCC	-	NULL		0.517	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	protein_coding	OTTHUMT00000157220.2	G	NM_018086		164176481	-1	no_errors	NM_018086	genbank	human	validated	54_36p	missense	SNP	1.000	T
KIF21B	23046	genome.wustl.edu	37	1	200954053	200954053	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:200954053G>A	ENST00000422435.2	-	27	4053	c.3737C>T	c.(3736-3738)cCc>cTc	p.P1246L	KIF21B_ENST00000461742.2_Missense_Mutation_p.P1246L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P1246L|KIF21B_ENST00000332129.2_Missense_Mutation_p.P1246L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1246					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTCATTGCGGGGCCGAGTGGG	0.622																																																0			1											94.0	87.0	89.0					1																	200954053		2203	4300	6503	199220676	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3737C>T	1.37:g.200954053G>A	ENSP00000411831:p.Pro1246Leu		199220676	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40_like,superfamily_Prefoldin,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.P1246L	ENST00000422435.2	37	c.3737	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276290	0.40294	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71698	-0.22;-0.54;-0.59;-0.28	5.55	5.55	0.83447	.	0.200952	0.43110	D	0.000618	T	0.66470	0.2792	L	0.47716	1.5	0.51012	D	0.999906	B;B;B;B	0.32245	0.22;0.22;0.361;0.328	B;B;B;B	0.30495	0.086;0.086;0.075;0.116	T	0.63422	-0.6641	10	0.32370	T	0.25	.	19.5116	0.95144	0.0:0.0:1.0:0.0	.	1246;1246;1246;1246	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	1246	ENSP00000328494:P1246L;ENSP00000353724:P1246L;ENSP00000433808:P1246L;ENSP00000411831:P1246L	ENSP00000328494:P1246L	P	-	2	0	KIF21B	199220676	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.833000	0.69349	2.615000	0.88500	0.561000	0.74099	CCC	-	superfamily_WD40_like		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	protein_coding	OTTHUMT00000382635.1	G	XM_371332		199220676	-1	no_errors	NM_017596	genbank	human	provisional	54_36p	missense	SNP	1.000	A
NAV1	89796	genome.wustl.edu	37	1	201777829	201777829	+	Splice_Site	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:201777829A>C	ENST00000367296.4	+	20	4458		c.e20-1		NAV1_ENST00000367297.4_Splice_Site|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Splice_Site|NAV1_ENST00000367300.3_Splice_Site|NAV1_ENST00000295624.6_Splice_Site|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Splice_Site	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCTTGCCACAGTTGGAGGTG	0.587																																																0			1											89.0	92.0	91.0					1																	201777829		2203	4300	6503	200044452	SO:0001630	splice_region_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4039-1A>C	1.37:g.201777829A>C			200044452	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Splice_Site	SNP	-	e19-2	ENST00000367296.4	37	c.4030-2	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	a	18.69	3.677761	0.68042	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5274	0.75923	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV1	200044452	1.000000	0.71417	0.952000	0.39060	0.867000	0.49689	9.083000	0.94067	2.156000	0.67533	0.441000	0.28932	.	-	-		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	protein_coding	OTTHUMT00000087013.1	A	NM_020443	Intron	200044452	+1	no_errors	NM_020443	genbank	human	reviewed	54_36p	splice_site	SNP	0.979	C
FAM71A	149647	genome.wustl.edu	37	1	212798351	212798351	+	Silent	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:212798351G>A	ENST00000294829.3	+	1	563	c.132G>A	c.(130-132)ccG>ccA	p.P44P	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	44						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGTATGCACCGATATTTGAGA	0.512																																																0			1											179.0	161.0	167.0					1																	212798351		2203	4300	6503	210864974	SO:0001819	synonymous_variant	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.132G>A	1.37:g.212798351G>A			210864974	Q5VTZ1	Silent	SNP	NULL	p.P44	ENST00000294829.3	37	c.132	CCDS1507.1	1																																																																																			-	NULL		0.512	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	protein_coding	OTTHUMT00000098529.1	G	NM_153606		210864974	+1	no_errors	NM_153606	genbank	human	predicted	54_36p	silent	SNP	0.001	A
SPHAR	10638	genome.wustl.edu	37	1	229441032	229441032	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:229441032A>C	ENST00000366688.3	+	1	904	c.151A>C	c.(151-153)Aat>Cat	p.N51H	RAB4A_ENST00000366690.4_3'UTR	NM_006542.3	NP_006533.1	Q15513	SPHAR_HUMAN	S-phase response (cyclin related)	51					DNA replication (GO:0006260)							Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TATTTTATTCAATGTCTCATT	0.318																																																0			1											54.0	56.0	55.0					1																	229441032		2201	4294	6495	227507655	SO:0001583	missense	10638			BC070287	CCDS1576.1	1q42.13	2009-03-11			ENSG00000213029	ENSG00000213029			16957	protein-coding gene	gene with protein product						7799938	Standard	NM_006542		Approved		uc001htk.4	Q15513	OTTHUMG00000058947	ENST00000366688.3:c.151A>C	1.37:g.229441032A>C	ENSP00000355649:p.Asn51His		227507655	Q4EW09|Q6NSB9	Missense_Mutation	SNP	NULL	p.N51H	ENST00000366688.3	37	c.151	CCDS1576.1	1	.	.	.	.	.	.	.	.	.	.	A	7.380	0.628618	0.14257	.	.	ENSG00000213029	ENST00000366688	.	.	.	4.9	-0.221	0.13126	.	.	.	.	.	T	0.47248	0.1435	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.53313	0.723	T	0.39099	-0.9630	7	0.87932	D	0	.	7.7272	0.28767	0.5811:0.0:0.4189:0.0	.	51	Q15513	SPHAR_HUMAN	H	51	.	ENSP00000355649:N51H	N	+	1	0	SPHAR	227507655	0.000000	0.05858	0.000000	0.03702	0.247000	0.25773	-0.048000	0.11944	0.041000	0.15688	0.533000	0.62120	AAT	-	NULL		0.318	SPHAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPHAR	protein_coding	OTTHUMT00000130347.1	A	NM_006542		227507655	+1	no_errors	NM_006542	genbank	human	validated	54_36p	missense	SNP	0.000	C
COL4A4	1286	genome.wustl.edu	37	2	227963503	227963503	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:227963503C>A	ENST00000396625.3	-	19	1318	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	COL4A4_ENST00000329662.7_Missense_Mutation_p.D371Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	371	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACCCTGGGTCCCCTGGTGGG	0.493																																																0			2											35.0	36.0	35.0					2																	227963503		1849	4089	5938	227671747	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1111G>T	2.37:g.227963503C>A	ENSP00000379866:p.Asp371Tyr		227671747	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like	p.D371Y	ENST00000396625.3	37	c.1111	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073359	0.55646	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94457	-3.43;-3.43	5.71	5.71	0.89125	.	.	.	.	.	D	0.95310	0.8478	L	0.32530	0.975	0.49213	D	0.999769	D	0.89917	1.0	D	0.91635	0.999	D	0.95457	0.8539	9	0.62326	D	0.03	.	15.3395	0.74284	0.0:1.0:0.0:0.0	.	371	P53420	CO4A4_HUMAN	Y	371	ENSP00000379866:D371Y;ENSP00000328553:D371Y	ENSP00000328553:D371Y	D	-	1	0	COL4A4	227671747	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.035000	0.57297	2.701000	0.92244	0.591000	0.81541	GAC	-	HMMPfam_Collagen		0.493	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	C	NM_000092		227671747	-1	no_errors	NM_000092	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ALPP	250	genome.wustl.edu	37	2	233246247	233246247	+	Missense_Mutation	SNP	C	C	G	rs140739243		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:233246247C>G	ENST00000392027.2	+	11	1619	c.1350C>G	c.(1348-1350)gaC>gaG	p.D450E	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	450					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCCCCTGGACGAAGAGACCC	0.652																																																0			2						C	GLU/ASP	0,4404		0,0,2202	28.0	32.0	31.0		1350	-4.7	0.0	2	dbSNP_134	31	7,8593	5.7+/-21.5	0,7,4293	no	missense	ALPP	NM_001632.3	45	0,7,6495	GG,GC,CC		0.0814,0.0,0.0538	benign	450/536	233246247	7,12997	2202	4300	6502	232954491	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1350C>G	2.37:g.233246247C>G	ENSP00000375881:p.Asp450Glu		232954491	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE	p.D450E	ENST00000392027.2	37	c.1350	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	C	4.625	0.116106	0.08831	0.0	8.14E-4	ENSG00000163283	ENST00000392027	D	0.95980	-3.87	2.35	-4.69	0.03299	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.646820	0.03459	N	0.211969	D	0.88168	0.6364	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.81634	-0.0844	10	0.02654	T	1	.	5.5086	0.16868	0.2128:0.1846:0.5216:0.0809	.	450	P05187	PPB1_HUMAN	E	450	ENSP00000375881:D450E	ENSP00000375881:D450E	D	+	3	2	ALPP	232954491	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-3.708000	0.00387	-2.678000	0.00410	-0.704000	0.03662	GAC	-	superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc		0.652	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	protein_coding	OTTHUMT00000257032.3	C	NM_001632		232954491	+1	no_errors	NM_001632	genbank	human	reviewed	54_36p	missense	SNP	0.000	G
ACTN2	88	genome.wustl.edu	37	1	236918421	236918421	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:236918421G>A	ENST00000366578.4	+	17	2243	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	ACTN2_ENST00000546208.1_Missense_Mutation_p.D187N|ACTN2_ENST00000542672.1_Missense_Mutation_p.D693N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	693					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.D693N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAACAACATCGACAAGCTGGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											201.0	192.0	195.0					1																	236918421		2203	4300	6503	234985044	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2077G>A	1.37:g.236918421G>A	ENSP00000355537:p.Asp693Asn		234985044	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,HMMPfam_efhand_Ca_insen	p.D693N	ENST00000366578.4	37	c.2077	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574577	0.65878	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.51574	0.7;0.7;0.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.47716	1.5	0.80722	D	1	D;B;D;D	0.76494	0.999;0.028;0.999;0.995	D;B;D;D	0.87578	0.998;0.057;0.998;0.987	T	0.61168	-0.7117	10	0.36615	T	0.2	.	17.4718	0.87648	0.0:0.0:1.0:0.0	.	478;693;463;693	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	693;693;187;462	ENSP00000443495:D693N;ENSP00000355537:D693N;ENSP00000438384:D187N	ENSP00000355537:D693N	D	+	1	0	ACTN2	234985044	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	9.835000	0.99442	2.100000	0.63781	0.557000	0.71058	GAC	-	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	protein_coding	OTTHUMT00000096628.1	G	NM_001103		234985044	+1	no_errors	NM_001103	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238275606	238275606	+	Missense_Mutation	SNP	G	G	A	rs578249894		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr2:238275606G>A	ENST00000295550.4	-	11	5676	c.5224C>T	c.(5224-5226)Cgg>Tgg	p.R1742W	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1536W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1135W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1536W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1542W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1541W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1742	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGGGACCCGCTGGTCCAGG	0.592																																																0			2											59.0	59.0	59.0					2																	238275606		2203	4300	6503	237940345	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5224C>T	2.37:g.238275606G>A	ENSP00000295550:p.Arg1742Trp		237940345	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1	p.R1742W	ENST00000295550.4	37	c.5224	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755715	0.31046	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.56	-4.6	0.03390	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000054	D	0.83220	0.5207	M	0.69358	2.11	0.39974	D	0.974826	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.965	D	0.83613	0.0135	10	0.66056	D	0.02	.	13.8756	0.63651	0.0:0.061:0.585:0.354	.	1135;1536;1742	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	W	1742;1541;1536;1135;1536;1542	ENSP00000295550:R1742W;ENSP00000315609:R1541W;ENSP00000315873:R1536W;ENSP00000418285:R1135W;ENSP00000386844:R1536W;ENSP00000295546:R1542W	ENSP00000295550:R1742W	R	-	1	2	COL6A3	237940345	1.000000	0.71417	0.857000	0.33713	0.213000	0.24496	1.138000	0.31491	-0.504000	0.06577	-0.188000	0.12872	CGG	-	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	G	NM_004369		237940345	-1	no_errors	NM_004369	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
OR2M4	26245	genome.wustl.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0041															2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	1						T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131.0	113.0	119.0		800	1.4	0.0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	246469653	SO:0001583	missense	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met		246469653	Q15611|Q8NG82	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T267M	ENST00000306687.1	37	c.800	CCDS31108.1	1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	protein_coding	OTTHUMT00000097352.1	C	NM_017504		246469653	+1	no_errors	NM_017504	genbank	human	provisional	54_36p	missense	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	12	9446451	9446452	+	IGR	INS	-	-	GGTTACTCA	rs202210909		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr12:9446451_9446452insGGTTACTCA								SNORA75 (7033 upstream) : RP13-735L24.1 (73607 downstream)														p.Q116_F117insVTQ(2)									GAACCGGCCTGGGTTACTCAGT	0.579														1210	0.241613	0.118	0.245	5008	,	,		20715	0.3333		0.2893	False		,,,				2504	0.2628															2	Insertion - In frame(2)	breast(2)	12																																								9337719	SO:0001628	intergenic_variant	0																															12.37:g.9446452_9446460dupGGTTACTCA			9337718		In_Frame_Ins	INS	superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_DEAD_2,HMMSmart_HELICc2	p.117in_frame_insVTQ		37	c.338_339		12																																																																																			-	superfamily_SSF52540,HMMSmart_DEXDc2	0	0.579					ENSG00000111788			-			9337719	+1	no_errors	ENST00000341155	ensembl	human	known	54_36p	in_frame_ins	INS	1.000:1.000	GGTTACTCA
NF1	4763	genome.wustl.edu	37	17	29541474	29541475	+	Frame_Shift_Ins	INS	-	-	A			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr17:29541474_29541475insA	ENST00000358273.4	+	13	1781_1782	c.1398_1399insA	c.(1399-1401)acafs	p.T467fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.T467fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.T467fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	467					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTAGAGTCTTACATTTAAAGA	0.287			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	17	GRCh37	CI001015|CI031910	NF1	I																																				26565601	SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1399dupA	17.37:g.29541475_29541475dupA	ENSP00000351015:p.Thr467fs		26565600	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516	p.T466fs	ENST00000358273.4	37	c.1398_1399	CCDS42292.1	17																																																																																			-	NULL		0.287	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	-	NM_000267		26565601	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44937669	44937670	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	TT	TT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chrX:44937669_44937670delTT	ENST00000377967.4	+	19	2898_2899	c.2857_2858delTT	c.(2857-2859)tttfs	p.F953fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.F874fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.F960fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.F908fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	953	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGATGCTTTCTTTCCTCCATTA	0.312			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)	X																																								44822614	SO:0001589	frameshift_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2857_2858delTT	X.37:g.44937669_44937670delTT	ENSP00000367203:p.Phe953fs		44822613	Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,HMMSmart_JmjC,HMMPfam_JmjC	p.F953fs	ENST00000377967.4	37	c.2857_2858	CCDS14265.1	X																																																																																			(deletion:cds_exon[44822589,44822694])	NULL		0.312	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTX	protein_coding	OTTHUMT00000056324.1	TT	NM_021140		44822614	+1	no_errors	NM_021140	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000:1.000	-
B4GALT5	9334	genome.wustl.edu	37	20	48273140	48273146	+	Frame_Shift_Del	DEL	GCACTCC	GCACTCC	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	GCACTCC	GCACTCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr20:48273140_48273146delGCACTCC	ENST00000371711.4	-	2	396_402	c.209_215delGGAGTGC	c.(208-216)cggagtgctfs	p.RSA70fs		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	70					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTTGGCATAAGCACTCCGAAGCACCTG	0.464																																																0			20																																								47706553	SO:0001589	frameshift_variant	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.209_215delGGAGTGC	20.37:g.48273140_48273146delGCACTCC	ENSP00000360776:p.Arg70fs		47706547	E1P625|Q2M394|Q9UJQ8	Frame_Shift_Del	DEL	superfamily_SSF53448,HMMPfam_Galactosyl_T_2	p.R70fs	ENST00000371711.4	37	c.215_209	CCDS13420.1	20																																																																																			(deletion:cds_exon[47706512,47706646])	NULL		0.464	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	protein_coding	OTTHUMT00000080543.3	GCACTCC	NM_004776		47706553	-1	no_errors	NM_004776	genbank	human	validated	54_36p	frame_shift_del	DEL	0.997:1.000:1.000:1.000:1.000:0.996:1.000	-
TNFAIP8L3	388121	genome.wustl.edu	37	15	51350426	51350426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr15:51350426delC	ENST00000327536.5	-	3	630	c.531delG	c.(529-531)gggfs	p.G177fs	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	177										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGTAGAGGATCCCGATTTTGA	0.468																																																0			15											288.0	227.0	247.0					15																	51350426		2196	4293	6489	49137718	SO:0001589	frameshift_variant	388121			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.531delG	15.37:g.51350426delC	ENSP00000328016:p.Gly177fs		49137718	Q6ZWD1	Frame_Shift_Del	DEL	HMMPfam_DUF758	p.I178fs	ENST00000327536.5	37	c.531	CCDS32241.1	15																																																																																			(deletion:cds_exon[49137370,49137932])	HMMPfam_DUF758		0.468	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L3	protein_coding	OTTHUMT00000418661.1	C	NM_207381		49137718	-1	no_errors	NM_207381	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000	-
EVL	51466	genome.wustl.edu	37	14	100563987	100563989	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	AAG	AAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr14:100563987_100563989delAAG	ENST00000402714.2	+	3	948_950	c.344_346delAAG	c.(343-348)caagaa>caa	p.E116del	EVL_ENST00000544450.2_In_Frame_Del_p.E122del|EVL_ENST00000392920.3_In_Frame_Del_p.E118del|EVL_ENST00000555048.1_3'UTR			Q9UI08	EVL_HUMAN	Enah/Vasp-like	116					actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ATGAATTCCCAAGAAGGAGGTAA	0.522																																																0			14																																								99633742	SO:0001651	inframe_deletion	51466			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.344_346delAAG	14.37:g.100563990_100563992delAAG	ENSP00000384720:p.Glu116del		99633740	A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	In_Frame_Del	DEL	superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1,HMMPfam_VASP_tetra	p.E118in_frame_del	ENST00000402714.2	37	c.350_352		14																																																																																			(deletion:cds_exon[99633571,99633748])	superfamily_SSF50729		0.522	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	protein_coding	OTTHUMT00000413958.1	AAG			99633742	+1	no_errors	NM_016337	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:0.991:1.000	-
MROH5	389690	genome.wustl.edu	37	8	142446793	142446795	+	RNA	DEL	AAG	AAG	-	rs564410242		TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	AAG	AAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr8:142446793_142446795delAAG	ENST00000606664.1	+	0	2149_2151				MROH5_ENST00000430863.1_RNA																							CACGTCATTAAAGAAGGAGCGTG	0.655																																																0			8								2,4040		1,0,2020						-1.0	0.6			24	7,8037		1,5,4016	no	coding	FLJ43860	NM_207414.2		2,5,6036	A1A1,A1R,RR		0.087,0.0495,0.0745				9,12077				142515977			389690																															8.37:g.142446796_142446798delAAG			142515975		In_Frame_Del	DEL	superfamily_ARM repeat,HMMPfam_HEAT	p.F1131in_frame_del	ENST00000606664.1	37	c.3392_3390		8																																																																																			(deletion:cds_exon[142515968,142516144])	superfamily_ARM repeat		0.655	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	FLJ43860	antisense	OTTHUMT00000470872.1	AAG			142515977	-1	pseudogene	NM_207414	genbank	human	validated	54_36p	in_frame_del	DEL	0.986:0.986:0.974	-
TOR1AIP2	163590	genome.wustl.edu	37	1	179815640	179815641	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-30-1714-01A-02W-0633-09	TCGA-30-1714-10A-01W-0633-09	GA	GA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	eb2a14f5-3531-4ac2-857a-0a669371be62	64e6b0b5-cf9c-4872-be9f-867a0a40e8de	g.chr1:179815640_179815641delGA	ENST00000367612.3	-	6	1365_1366	c.978_979delTC	c.(976-981)tctcccfs	p.P327fs	TOR1AIP2_ENST00000609928.1_Frame_Shift_Del_p.P327fs	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						ATCTGAATGGGAGAGACTTTCT	0.54																																																0			1																																								178082264	SO:0001589	frameshift_variant	163590				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.978_979delTC	1.37:g.179815644_179815645delGA	ENSP00000356584:p.Pro327fs		178082263	Q05BU2	Frame_Shift_Del	DEL	HMMPfam_LAP1C	p.P327fs	ENST00000367612.3	37	c.979_978	CCDS1334.1	1																																																																																			(deletion:cds_exon[178081829,178082586])	HMMPfam_LAP1C		0.540	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	protein_coding	OTTHUMT00000085304.1	GA	NM_145034		178082264	-1	no_errors	NM_145034	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.977:0.981	-
