#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALCAM	214	genome.wustl.edu	37	3	105253613	105253613	+	Silent	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr3:105253613C>T	ENST00000306107.5	+	6	1154	c.654C>T	c.(652-654)ttC>ttT	p.F218F	ALCAM_ENST00000486979.2_Silent_p.F167F|ALCAM_ENST00000389927.4_Silent_p.F27F|ALCAM_ENST00000472644.2_Silent_p.F218F|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	218	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAATGCCATTCACCTGCTCGG	0.373																																						dbGAP											0													135.0	129.0	131.0					3																	105253613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.654C>T	3.37:g.105253613C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.H66Y	ENST00000306107.5	37	c.196	CCDS33810.1	3	.	.	.	.	.	.	.	.	.	.	C	8.612	0.889349	0.17540	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.54	0.689	0.18033	.	.	.	.	.	T	0.58963	0.2159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53899	-0.8373	4	.	.	.	-18.1924	11.2527	0.49034	0.0:0.613:0.0:0.387	.	.	.	.	Y	66	.	.	H	+	1	0	ALCAM	106736303	0.963000	0.33076	0.999000	0.59377	0.892000	0.51952	0.021000	0.13489	0.121000	0.18284	0.650000	0.86243	CAC	ALCAM	-	pfam_CD80_C2-set,pfscan_Ig-like	ENSG00000170017		0.373	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	233	0.00	0	C	NM_001627		105253613	105253613	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465413	ensembl	human	novel	69_37n	missense	123	13.38	19	SNP	0.998	T
ALCAM	214	genome.wustl.edu	37	3	105253613	105253613	+	Silent	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr3:105253613C>T	ENST00000306107.5	+	6	1154	c.654C>T	c.(652-654)ttC>ttT	p.F218F	ALCAM_ENST00000486979.2_Silent_p.F167F|ALCAM_ENST00000389927.4_Silent_p.F27F|ALCAM_ENST00000472644.2_Silent_p.F218F|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	218	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAATGCCATTCACCTGCTCGG	0.373																																						dbGAP											0													135.0	129.0	131.0					3																	105253613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.654C>T	3.37:g.105253613C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.H66Y	ENST00000306107.5	37	c.196	CCDS33810.1	3	.	.	.	.	.	.	.	.	.	.	C	8.612	0.889349	0.17540	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.54	0.689	0.18033	.	.	.	.	.	T	0.58963	0.2159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53899	-0.8373	4	.	.	.	-18.1924	11.2527	0.49034	0.0:0.613:0.0:0.387	.	.	.	.	Y	66	.	.	H	+	1	0	ALCAM	106736303	0.963000	0.33076	0.999000	0.59377	0.892000	0.51952	0.021000	0.13489	0.121000	0.18284	0.650000	0.86243	CAC	ALCAM	-	pfam_CD80_C2-set,pfscan_Ig-like	ENSG00000170017		0.373	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	138	0.00	0	C	NM_001627		105253613	105253613	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000465413	ensembl	human	novel	69_37n	missense	123	13.38	19	SNP	0.998	T
ALMS1P	200420	genome.wustl.edu	37	2	73900111	73900111	+	RNA	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr2:73900111C>T	ENST00000450720.1	+	0	671					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												GTCGGGGCTACCTGGCAGGCC	0.587																																						dbGAP											0													51.0	66.0	61.0					2																	73900111		692	1591	2283	-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73900111C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.587	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	116	0.00	0	C	NR_003683		73900111	73900111	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	83	14.43	14	SNP	0.000	T
ALMS1P	200420	genome.wustl.edu	37	2	73900111	73900111	+	RNA	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr2:73900111C>T	ENST00000450720.1	+	0	671					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												GTCGGGGCTACCTGGCAGGCC	0.587																																						dbGAP											0													51.0	66.0	61.0					2																	73900111		692	1591	2283	-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73900111C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.587	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	89	0.00	0	C	NR_003683		73900111	73900111	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	83	14.43	14	SNP	0.000	T
BMPER	168667	genome.wustl.edu	37	7	34125684	34125684	+	Silent	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr7:34125684G>A	ENST00000297161.2	+	14	2099	c.1725G>A	c.(1723-1725)gtG>gtA	p.V575V	BMPER_ENST00000426693.1_Silent_p.V575V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	575					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACTCGACTGTGGACTACGCCA	0.488																																						dbGAP											0													63.0	65.0	64.0					7																	34125684		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1725G>A	7.37:g.34125684G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1P8|Q8TF36	Silent	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.V575	ENST00000297161.2	37	c.1725	CCDS5442.1	7																																																																																			BMPER	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000164619		0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	115	0.00	0	G	NM_133468		34125684	34125684	+1	no_errors	ENST00000297161	ensembl	human	known	69_37n	silent	103	25.18	35	SNP	0.997	A
CR2	1380	genome.wustl.edu	37	1	207644142	207644142	+	Missense_Mutation	SNP	G	G	C	rs183067414	byFrequency	TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr1:207644142G>C	ENST00000367058.3	+	7	1472	c.1283G>C	c.(1282-1284)cGc>cCc	p.R428P	CR2_ENST00000367057.3_Missense_Mutation_p.R428P|CR2_ENST00000458541.2_Missense_Mutation_p.R428P|CR2_ENST00000367059.3_Missense_Mutation_p.R428P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	428	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACATGGTCCGCTTTGACCCT	0.453																																						dbGAP											0													85.0	84.0	85.0					1																	207644142		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1283G>C	1.37:g.207644142G>C	ENSP00000356025:p.Arg428Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R428P	ENST00000367058.3	37	c.1283	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.927940	0.18056	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.57	-0.802	0.10889	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.63745	0.2537	L	0.32530	0.975	0.09310	N	0.99999	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.67725	0.953;0.951;0.946	T	0.55244	-0.8171	9	0.49607	T	0.09	.	8.0768	0.30720	0.48:0.0:0.52:0.0	.	428;428;428	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	P	428	ENSP00000356025:R428P;ENSP00000356024:R428P;ENSP00000356026:R428P;ENSP00000404222:R428P	ENSP00000356024:R428P	R	+	2	0	CR2	205710765	0.001000	0.12720	0.124000	0.21820	0.035000	0.12851	-0.548000	0.06048	-0.243000	0.09653	-0.793000	0.03317	CGC	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	282	0.00	0	G	NM_001877		207644142	207644142	+1	no_errors	ENST00000367057	ensembl	human	known	69_37n	missense	205	10.43	24	SNP	0.142	C
CR2	1380	genome.wustl.edu	37	1	207644142	207644142	+	Missense_Mutation	SNP	G	G	C	rs183067414	byFrequency	TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr1:207644142G>C	ENST00000367058.3	+	7	1472	c.1283G>C	c.(1282-1284)cGc>cCc	p.R428P	CR2_ENST00000367057.3_Missense_Mutation_p.R428P|CR2_ENST00000458541.2_Missense_Mutation_p.R428P|CR2_ENST00000367059.3_Missense_Mutation_p.R428P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	428	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACATGGTCCGCTTTGACCCT	0.453																																						dbGAP											0													85.0	84.0	85.0					1																	207644142		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1283G>C	1.37:g.207644142G>C	ENSP00000356025:p.Arg428Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R428P	ENST00000367058.3	37	c.1283	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.927940	0.18056	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.57	-0.802	0.10889	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.63745	0.2537	L	0.32530	0.975	0.09310	N	0.99999	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.67725	0.953;0.951;0.946	T	0.55244	-0.8171	9	0.49607	T	0.09	.	8.0768	0.30720	0.48:0.0:0.52:0.0	.	428;428;428	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	P	428	ENSP00000356025:R428P;ENSP00000356024:R428P;ENSP00000356026:R428P;ENSP00000404222:R428P	ENSP00000356024:R428P	R	+	2	0	CR2	205710765	0.001000	0.12720	0.124000	0.21820	0.035000	0.12851	-0.548000	0.06048	-0.243000	0.09653	-0.793000	0.03317	CGC	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	182	0.00	0	G	NM_001877		207644142	207644142	+1	no_errors	ENST00000367057	ensembl	human	known	69_37n	missense	205	10.43	24	SNP	0.142	C
DNAH1	25981	genome.wustl.edu	37	3	52402833	52402833	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr3:52402833G>A	ENST00000420323.2	+	37	6103	c.5842G>A	c.(5842-5844)Gat>Aat	p.D1948N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1948	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTACATGTTCGATGGGCCGGT	0.572																																						dbGAP											0													143.0	148.0	146.0					3																	52402833		2086	4231	6317	-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5842G>A	3.37:g.52402833G>A	ENSP00000401514:p.Asp1948Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.D1948N	ENST00000420323.2	37	c.5842	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.458028	0.96240	.	.	ENSG00000114841	ENST00000420323	T	0.74947	-0.89	4.93	4.93	0.64822	.	0.000000	0.45867	D	0.000332	D	0.91720	0.7382	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94727	0.7906	10	0.87932	D	0	.	18.3341	0.90282	0.0:0.0:1.0:0.0	.	1948	C9JXH6	.	N	1948	ENSP00000401514:D1948N	ENSP00000401514:D1948N	D	+	1	0	DNAH1	52377873	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	9.538000	0.98072	2.567000	0.86603	0.563000	0.77884	GAT	DNAH1	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000114841		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	154	0.00	0	G	NM_015512		52402833	52402833	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	1.000	A
DNAH1	25981	genome.wustl.edu	37	3	52402833	52402833	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr3:52402833G>A	ENST00000420323.2	+	37	6103	c.5842G>A	c.(5842-5844)Gat>Aat	p.D1948N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1948	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTACATGTTCGATGGGCCGGT	0.572																																						dbGAP											0													143.0	148.0	146.0					3																	52402833		2086	4231	6317	-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5842G>A	3.37:g.52402833G>A	ENSP00000401514:p.Asp1948Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.D1948N	ENST00000420323.2	37	c.5842	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.458028	0.96240	.	.	ENSG00000114841	ENST00000420323	T	0.74947	-0.89	4.93	4.93	0.64822	.	0.000000	0.45867	D	0.000332	D	0.91720	0.7382	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94727	0.7906	10	0.87932	D	0	.	18.3341	0.90282	0.0:0.0:1.0:0.0	.	1948	C9JXH6	.	N	1948	ENSP00000401514:D1948N	ENSP00000401514:D1948N	D	+	1	0	DNAH1	52377873	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	9.538000	0.98072	2.567000	0.86603	0.563000	0.77884	GAT	DNAH1	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000114841		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	79	0.00	0	G	NM_015512		52402833	52402833	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	1.000	A
DSCAML1	57453	genome.wustl.edu	37	11	117351189	117351189	+	Silent	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr11:117351189C>T	ENST00000321322.6	-	14	2935	c.2934G>A	c.(2932-2934)acG>acA	p.T978T	DSCAML1_ENST00000527706.1_Silent_p.T708T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	918	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGTCGAAGCCCGTGATGATGC	0.627																																						dbGAP											0													75.0	79.0	77.0					11																	117351189		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2934G>A	11.37:g.117351189C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T978	ENST00000321322.6	37	c.2934	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	134	0.00	0	C	NM_020693		117351189	117351189	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	silent	80	19.19	19	SNP	0.738	T
DSCAML1	57453	genome.wustl.edu	37	11	117351189	117351189	+	Silent	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr11:117351189C>T	ENST00000321322.6	-	14	2935	c.2934G>A	c.(2932-2934)acG>acA	p.T978T	DSCAML1_ENST00000527706.1_Silent_p.T708T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	918	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGTCGAAGCCCGTGATGATGC	0.627																																						dbGAP											0													75.0	79.0	77.0					11																	117351189		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2934G>A	11.37:g.117351189C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T978	ENST00000321322.6	37	c.2934	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	89	0.00	0	C	NM_020693		117351189	117351189	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	silent	80	19.19	19	SNP	0.738	T
DSG3	1830	genome.wustl.edu	37	18	29041208	29041208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr18:29041208G>T	ENST00000257189.4	+	8	915	c.832G>T	c.(832-834)Gaa>Taa	p.E278*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACGTATTGAAGAAAATATTTT	0.333																																						dbGAP											0													47.0	47.0	47.0					18																	29041208		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.832G>T	18.37:g.29041208G>T	ENSP00000257189:p.Glu278*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.E278*	ENST00000257189.4	37	c.832	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243903	0.79912	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.31	4.43	0.53597	.	0.000000	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.2099	0.65756	0.0739:0.0:0.9261:0.0	.	.	.	.	X	278	.	ENSP00000257189:E278X	E	+	1	0	DSG3	27295206	1.000000	0.71417	0.527000	0.27925	0.124000	0.20399	6.563000	0.73964	1.356000	0.45884	0.655000	0.94253	GAA	DSG3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000134757		0.333	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	174	0.00	0	G	NM_001944		29041208	29041208	+1	no_errors	ENST00000257189	ensembl	human	known	69_37n	nonsense	74	16.85	15	SNP	0.950	T
DSG3	1830	genome.wustl.edu	37	18	29041208	29041208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr18:29041208G>T	ENST00000257189.4	+	8	915	c.832G>T	c.(832-834)Gaa>Taa	p.E278*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACGTATTGAAGAAAATATTTT	0.333																																						dbGAP											0													47.0	47.0	47.0					18																	29041208		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.832G>T	18.37:g.29041208G>T	ENSP00000257189:p.Glu278*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.E278*	ENST00000257189.4	37	c.832	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243903	0.79912	.	.	ENSG00000134757	ENST00000257189	.	.	.	5.31	4.43	0.53597	.	0.000000	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.2099	0.65756	0.0739:0.0:0.9261:0.0	.	.	.	.	X	278	.	ENSP00000257189:E278X	E	+	1	0	DSG3	27295206	1.000000	0.71417	0.527000	0.27925	0.124000	0.20399	6.563000	0.73964	1.356000	0.45884	0.655000	0.94253	GAA	DSG3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000134757		0.333	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	137	0.00	0	G	NM_001944		29041208	29041208	+1	no_errors	ENST00000257189	ensembl	human	known	69_37n	nonsense	74	16.85	15	SNP	0.950	T
FBN3	84467	genome.wustl.edu	37	19	8201277	8201277	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr19:8201277C>T	ENST00000600128.1	-	11	1754	c.1340G>A	c.(1339-1341)tGc>tAc	p.C447Y	FBN3_ENST00000270509.2_Missense_Mutation_p.C447Y|FBN3_ENST00000601739.1_Missense_Mutation_p.C447Y			Q75N90	FBN3_HUMAN	fibrillin 3	447	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCACCAATGCACTCGCCGCG	0.647																																						dbGAP											0													66.0	62.0	63.0					19																	8201277		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1340G>A	19.37:g.8201277C>T	ENSP00000470498:p.Cys447Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.C447Y	ENST00000600128.1	37	c.1340	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	c	15.60	2.882450	0.51908	.	.	ENSG00000142449	ENST00000270509	D	0.92911	-3.13	4.4	4.4	0.53042	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.97291	0.9114	H	0.95611	3.695	0.53688	D	0.999978	D	0.89917	1.0	D	0.85130	0.997	D	0.98917	1.0782	10	0.87932	D	0	.	16.9807	0.86326	0.0:1.0:0.0:0.0	.	447	Q75N90	FBN3_HUMAN	Y	447	ENSP00000270509:C447Y	ENSP00000270509:C447Y	C	-	2	0	FBN3	8107277	1.000000	0.71417	0.091000	0.20842	0.009000	0.06853	7.044000	0.76578	1.997000	0.58415	0.462000	0.41574	TGC	FBN3	-	smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin	ENSG00000142449		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	43	0.00	0	C	NM_032447		8201277	8201277	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	1.000	T
GRIN2B	2904	genome.wustl.edu	37	12	13716941	13716941	+	Silent	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr12:13716941G>A	ENST00000609686.1	-	13	3440	c.3231C>T	c.(3229-3231)gcC>gcT	p.A1077A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1077					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCTCTTGGCGGCATTGCCCT	0.587																																						dbGAP											0													57.0	50.0	52.0					12																	13716941		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3231C>T	12.37:g.13716941G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A1077	ENST00000609686.1	37	c.3231	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_NMDAR2_C	ENSG00000150086		0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	147	0.00	0	G			13716941	13716941	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	silent	101	22.31	29	SNP	0.015	A
HSPBP1	23640	genome.wustl.edu	37	19	55790902	55790902	+	Silent	SNP	C	C	G			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr19:55790902C>G	ENST00000255631.5	-	3	385	c.75G>C	c.(73-75)ggG>ggC	p.G25G	HSPBP1_ENST00000587922.1_Silent_p.G25G|BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000433386.2_Silent_p.G25G|HSPBP1_ENST00000376343.3_Silent_p.G25G	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	25	Gly-rich.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9830037, ECO:0000269|Ref.3, ECO:0000269|Ref.6}.		negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGCCGCCGCCCCCTGAAGAGC	0.692																																						dbGAP											0													7.0	10.0	9.0					19																	55790902		1738	3706	5444	-	-	-	SO:0001819	synonymous_variant	0				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.75G>C	19.37:g.55790902C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	superfamily_ARM-type_fold	p.G25	ENST00000255631.5	37	c.75	CCDS33111.1	19																																																																																			HSPBP1	-	NULL	ENSG00000133265		0.692	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	HGNC	protein_coding	OTTHUMT00000452670.1	10	0.00	0	C	NM_012267		55790902	55790902	-1	no_errors	ENST00000255631	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	0.327	G
IFT172	26160	genome.wustl.edu	37	2	27667302	27667302	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr2:27667302C>A	ENST00000260570.3	-	48	5350	c.5247G>T	c.(5245-5247)caG>caT	p.Q1749H	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1749					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTACCAACTACTGAAAGGAAA	0.478																																						dbGAP											0													42.0	45.0	44.0					2																	27667302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.5247G>T	2.37:g.27667302C>A	ENSP00000260570:p.Gln1749His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.Q1749H	ENST00000260570.3	37	c.5247	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904424	0.33628	.	.	ENSG00000138002	ENST00000260570	T	0.48836	0.8	5.37	3.56	0.40772	.	0.330370	0.32343	N	0.006224	T	0.30166	0.0756	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.05666	-1.0871	10	0.31617	T	0.26	-7.3948	7.867	0.29543	0.1593:0.7575:0.0:0.0832	.	1749	Q9UG01	IF172_HUMAN	H	1749	ENSP00000260570:Q1749H	ENSP00000260570:Q1749H	Q	-	3	2	IFT172	27520806	1.000000	0.71417	0.987000	0.45799	0.851000	0.48451	1.510000	0.35790	0.642000	0.30620	0.555000	0.69702	CAG	IFT172	-	NULL	ENSG00000138002		0.478	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	99	0.99	1	C	NM_015662		27667302	27667302	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	A
IFT172	26160	genome.wustl.edu	37	2	27667302	27667302	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr2:27667302C>A	ENST00000260570.3	-	48	5350	c.5247G>T	c.(5245-5247)caG>caT	p.Q1749H	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1749					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTACCAACTACTGAAAGGAAA	0.478																																						dbGAP											0													42.0	45.0	44.0					2																	27667302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.5247G>T	2.37:g.27667302C>A	ENSP00000260570:p.Gln1749His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.Q1749H	ENST00000260570.3	37	c.5247	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904424	0.33628	.	.	ENSG00000138002	ENST00000260570	T	0.48836	0.8	5.37	3.56	0.40772	.	0.330370	0.32343	N	0.006224	T	0.30166	0.0756	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.05666	-1.0871	10	0.31617	T	0.26	-7.3948	7.867	0.29543	0.1593:0.7575:0.0:0.0832	.	1749	Q9UG01	IF172_HUMAN	H	1749	ENSP00000260570:Q1749H	ENSP00000260570:Q1749H	Q	-	3	2	IFT172	27520806	1.000000	0.71417	0.987000	0.45799	0.851000	0.48451	1.510000	0.35790	0.642000	0.30620	0.555000	0.69702	CAG	IFT172	-	NULL	ENSG00000138002		0.478	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	70	0.00	0	C	NM_015662		27667302	27667302	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	A
NTNG1	22854	genome.wustl.edu	37	1	107691296	107691296	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr1:107691296G>T	ENST00000370068.1	+	2	927	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NTNG1_ENST00000542803.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370066.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370073.2_Missense_Mutation_p.W27C|NTNG1_ENST00000370071.2_Missense_Mutation_p.W27C|NTNG1_ENST00000370061.3_Missense_Mutation_p.W27C|NTNG1_ENST00000370072.3_Missense_Mutation_p.W27C|NTNG1_ENST00000370067.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370065.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370074.4_Missense_Mutation_p.W27C|NTNG1_ENST00000370070.2_Missense_Mutation_p.W27C			Q9Y2I2	NTNG1_HUMAN	netrin G1	27					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTTTGGTTTGGGGACATTATG	0.438																																						dbGAP											0													186.0	173.0	178.0					1																	107691296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.81G>T	1.37:g.107691296G>T	ENSP00000359085:p.Trp27Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.W27C	ENST00000370068.1	37	c.81	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108351	0.77096	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.73575	0.83;-0.33;0.79;0.17;0.13;-0.5;-0.76;0.83;-0.5;-0.33;0.21	5.18	5.18	0.71444	.	0.000000	0.49916	D	0.000135	T	0.73837	0.3638	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.989	D;D;D;D;D	0.91635	0.999;0.998;0.957;0.997;0.936	T	0.74160	-0.3755	10	0.38643	T	0.18	.	17.2189	0.86952	0.0:0.0:1.0:0.0	.	27;27;27;27;27	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	C	27	ENSP00000359090:W27C;ENSP00000359088:W27C;ENSP00000440561:W27C;ENSP00000359078:W27C;ENSP00000359089:W27C;ENSP00000359087:W27C;ENSP00000359091:W27C;ENSP00000359085:W27C;ENSP00000359084:W27C;ENSP00000359083:W27C;ENSP00000359082:W27C	ENSP00000294649:W27C	W	+	3	0	NTNG1	107492819	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.047000	0.93823	2.562000	0.86427	0.491000	0.48974	TGG	NTNG1	-	NULL	ENSG00000162631		0.438	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	486	0.00	0	G	NM_014917		107691296	107691296	+1	no_errors	ENST00000370068	ensembl	human	known	69_37n	missense	254	18.59	58	SNP	1.000	T
NTNG1	22854	genome.wustl.edu	37	1	107691296	107691296	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr1:107691296G>T	ENST00000370068.1	+	2	927	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NTNG1_ENST00000542803.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370066.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370073.2_Missense_Mutation_p.W27C|NTNG1_ENST00000370071.2_Missense_Mutation_p.W27C|NTNG1_ENST00000370061.3_Missense_Mutation_p.W27C|NTNG1_ENST00000370072.3_Missense_Mutation_p.W27C|NTNG1_ENST00000370067.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370065.1_Missense_Mutation_p.W27C|NTNG1_ENST00000370074.4_Missense_Mutation_p.W27C|NTNG1_ENST00000370070.2_Missense_Mutation_p.W27C			Q9Y2I2	NTNG1_HUMAN	netrin G1	27					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTTTGGTTTGGGGACATTATG	0.438																																						dbGAP											0													186.0	173.0	178.0					1																	107691296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.81G>T	1.37:g.107691296G>T	ENSP00000359085:p.Trp27Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.W27C	ENST00000370068.1	37	c.81	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108351	0.77096	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.73575	0.83;-0.33;0.79;0.17;0.13;-0.5;-0.76;0.83;-0.5;-0.33;0.21	5.18	5.18	0.71444	.	0.000000	0.49916	D	0.000135	T	0.73837	0.3638	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.989	D;D;D;D;D	0.91635	0.999;0.998;0.957;0.997;0.936	T	0.74160	-0.3755	10	0.38643	T	0.18	.	17.2189	0.86952	0.0:0.0:1.0:0.0	.	27;27;27;27;27	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	C	27	ENSP00000359090:W27C;ENSP00000359088:W27C;ENSP00000440561:W27C;ENSP00000359078:W27C;ENSP00000359089:W27C;ENSP00000359087:W27C;ENSP00000359091:W27C;ENSP00000359085:W27C;ENSP00000359084:W27C;ENSP00000359083:W27C;ENSP00000359082:W27C	ENSP00000294649:W27C	W	+	3	0	NTNG1	107492819	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.047000	0.93823	2.562000	0.86427	0.491000	0.48974	TGG	NTNG1	-	NULL	ENSG00000162631		0.438	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	279	0.00	0	G	NM_014917		107691296	107691296	+1	no_errors	ENST00000370068	ensembl	human	known	69_37n	missense	254	18.59	58	SNP	1.000	T
PKNOX2	63876	genome.wustl.edu	37	11	125237868	125237868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr11:125237868C>T	ENST00000298282.9	+	5	485	c.214C>T	c.(214-216)Cga>Tga	p.R72*	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	72					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGCTGACAAGCGAGCTGTATA	0.617																																						dbGAP											0													49.0	56.0	54.0					11																	125237868		2032	4175	6207	-	-	-	SO:0001587	stop_gained	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.214C>T	11.37:g.125237868C>T	ENSP00000298282:p.Arg72*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R72*	ENST00000298282.9	37	c.214	CCDS41730.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.421256	0.96111	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000535518	.	.	.	5.49	2.48	0.30137	.	0.062202	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-6.7789	13.6319	0.62200	0.4271:0.5729:0.0:0.0	.	.	.	.	X	43;43;72;60	.	ENSP00000298282:R72X	R	+	1	2	PKNOX2	124743078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.478000	0.35442	0.227000	0.20999	0.563000	0.77884	CGA	PKNOX2	-	NULL	ENSG00000165495		0.617	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3	99	0.00	0	C			125237868	125237868	+1	no_errors	ENST00000298282	ensembl	human	known	69_37n	nonsense	62	25.30	21	SNP	1.000	T
PKNOX2	63876	genome.wustl.edu	37	11	125237868	125237868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr11:125237868C>T	ENST00000298282.9	+	5	485	c.214C>T	c.(214-216)Cga>Tga	p.R72*	PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	72					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGCTGACAAGCGAGCTGTATA	0.617																																						dbGAP											0													49.0	56.0	54.0					11																	125237868		2032	4175	6207	-	-	-	SO:0001587	stop_gained	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.214C>T	11.37:g.125237868C>T	ENSP00000298282:p.Arg72*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R72*	ENST00000298282.9	37	c.214	CCDS41730.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.421256	0.96111	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000535518	.	.	.	5.49	2.48	0.30137	.	0.062202	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-6.7789	13.6319	0.62200	0.4271:0.5729:0.0:0.0	.	.	.	.	X	43;43;72;60	.	ENSP00000298282:R72X	R	+	1	2	PKNOX2	124743078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.478000	0.35442	0.227000	0.20999	0.563000	0.77884	CGA	PKNOX2	-	NULL	ENSG00000165495		0.617	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3	78	0.00	0	C			125237868	125237868	+1	no_errors	ENST00000298282	ensembl	human	known	69_37n	nonsense	62	25.30	21	SNP	1.000	T
POM121	9883	genome.wustl.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765|rs148686669	byFrequency	TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr7:72413723_72413724insCTC	ENST00000434423.2	+	11	3191_3192	c.3191_3192insCTC	c.(3190-3195)ttcttc>ttCTCcttc	p.1064_1065FF>FSF	POM121_ENST00000446813.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000257622.4_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000358357.3_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000395270.1_In_Frame_Ins_p.799_800FF>FSF			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	Exception_encountered	7.37:g.72413723_72413724insCTC	ENSP00000405562:p.Phe1064_Phe1065insSer	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	In_Frame_Ins	INS	NULL	p.1065in_frame_insS	ENST00000434423.2	37	c.3191_3192		7																																																																																			POM121	-	NULL	ENSG00000196313		0.663	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	32	0.00	0	-			72413723	72413724	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	in_frame_ins	42	12.50	6	INS	0.980:0.870	CTC
SLC27A5	10998	genome.wustl.edu	37	19	59010502	59010502	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr19:59010502C>T	ENST00000263093.2	-	8	1862	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Missense_Mutation_p.V501M|SLC27A5_ENST00000594786.1_De_novo_Start_InFrame	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	585					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGCACGCACACGCCATACACG	0.557																																						dbGAP											0													101.0	91.0	95.0					19																	59010502		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1753G>A	19.37:g.59010502C>T	ENSP00000263093:p.Val585Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V585M	ENST00000263093.2	37	c.1753	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025587	0.93518	.	.	ENSG00000083807	ENST00000263093	T	0.61980	0.06	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.92833	3.35	0.46396	D	0.999029	D	0.89917	1.0	D	0.83275	0.996	D	0.87015	0.2125	10	0.87932	D	0	-28.7467	13.9757	0.64271	0.0:1.0:0.0:0.0	.	585	Q9Y2P5	S27A5_HUMAN	M	585	ENSP00000263093:V585M	ENSP00000263093:V585M	V	-	1	0	SLC27A5	63702314	0.998000	0.40836	0.910000	0.35882	0.903000	0.53119	4.202000	0.58446	2.435000	0.82474	0.563000	0.77884	GTG	SLC27A5	-	NULL	ENSG00000083807		0.557	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	57	0.00	0	C	NM_012254		59010502	59010502	-1	no_errors	ENST00000263093	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	0.988	T
SLC45A1	50651	genome.wustl.edu	37	1	8390663	8390663	+	Silent	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr1:8390663G>A	ENST00000471889.1	+	5	1495	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.T404T|SLC45A1_ENST00000289877.8_Silent_p.T370T|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	370					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTGGCACGGCCAACATAG	0.652																																						dbGAP											0													59.0	58.0	58.0					1																	8390663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1110G>A	1.37:g.8390663G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T404	ENST00000471889.1	37	c.1212	CCDS30577.1	1																																																																																			SLC45A1	-	NULL	ENSG00000162426		0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	58	0.00	0	G			8390663	8390663	+1	no_errors	ENST00000377479	ensembl	human	known	69_37n	silent	45	13.46	7	SNP	0.941	A
SLC45A1	50651	genome.wustl.edu	37	1	8390663	8390663	+	Silent	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr1:8390663G>A	ENST00000471889.1	+	5	1495	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.T404T|SLC45A1_ENST00000289877.8_Silent_p.T370T|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	370					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTGGCACGGCCAACATAG	0.652																																						dbGAP											0													59.0	58.0	58.0					1																	8390663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1110G>A	1.37:g.8390663G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T404	ENST00000471889.1	37	c.1212	CCDS30577.1	1																																																																																			SLC45A1	-	NULL	ENSG00000162426		0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	28	0.00	0	G			8390663	8390663	+1	no_errors	ENST00000377479	ensembl	human	known	69_37n	silent	45	13.46	7	SNP	0.941	A
SUSD4	55061	genome.wustl.edu	37	1	223400952	223400952	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr1:223400952C>T	ENST00000343846.3	-	6	1678	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	SUSD4_ENST00000454695.2_Missense_Mutation_p.A189T|SUSD4_ENST00000484758.2_Missense_Mutation_p.A280T|SUSD4_ENST00000494793.2_Missense_Mutation_p.A349T|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.A349T			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	349						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGAAAGTGGGCCTTGAACTTG	0.567																																						dbGAP											0													58.0	66.0	64.0					1																	223400952		2158	4263	6421	-	-	-	SO:0001583	missense	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1045G>A	1.37:g.223400952C>T	ENSP00000344219:p.Ala349Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A349T	ENST00000343846.3	37	c.1045	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528556	0.27299	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.41065	1.01;1.01;1.01	5.26	4.24	0.50183	.	0.268086	0.26911	N	0.021868	T	0.15825	0.0381	N	0.04959	-0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.11182	T	0.66	-24.6159	2.6896	0.05117	0.0:0.4556:0.296:0.2484	.	349	Q5VX71	SUSD4_HUMAN	T	349;349;280;189	ENSP00000344219:A349T;ENSP00000355843:A349T;ENSP00000399288:A189T	ENSP00000344219:A349T	A	-	1	0	SUSD4	221467575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.914000	0.28624	2.463000	0.83235	0.655000	0.94253	GCC	SUSD4	-	NULL	ENSG00000143502		0.567	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	93	0.00	0	C	NM_017982		223400952	223400952	-1	no_errors	ENST00000343846	ensembl	human	known	69_37n	missense	120	11.51	16	SNP	1.000	T
TCTN1	79600	genome.wustl.edu	37	12	111064227	111064227	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr12:111064227C>A	ENST00000551590.1	+	3	558	c.402C>A	c.(400-402)aaC>aaA	p.N134K	TCTN1_ENST00000550703.2_Missense_Mutation_p.N134K|TCTN1_ENST00000397659.4_Missense_Mutation_p.N134K|TCTN1_ENST00000397655.3_Missense_Mutation_p.N134K|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000551555.2_3'UTR|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000471804.2_Missense_Mutation_p.N134K			Q2MV58	TECT1_HUMAN	tectonic family member 1	134					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTACAGCAAACCCACCTCAAA	0.303																																						dbGAP											0													75.0	71.0	72.0					12																	111064227		1805	4074	5879	-	-	-	SO:0001583	missense	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.402C>A	12.37:g.111064227C>A	ENSP00000448735:p.Asn134Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	pfam_DUF1619	p.N134K	ENST00000551590.1	37	c.402	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795959	0.31777	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000548095;ENST00000397659;ENST00000397652	T;T;T	0.77620	-1.08;-1.11;-1.07	5.17	2.05	0.26809	Domain of unknown function DUF1619 (1);	0.967538	0.08452	U	0.943780	T	0.71937	0.3399	L	0.43152	1.355	0.80722	D	1	P;P;P;P;P;P;P	0.45283	0.855;0.728;0.646;0.496;0.525;0.551;0.855	B;B;B;B;B;B;P	0.47015	0.396;0.245;0.164;0.117;0.245;0.187;0.534	T	0.59542	-0.7435	10	0.14252	T	0.57	-9.4158	6.7892	0.23689	0.0:0.5017:0.0:0.4983	.	134;134;134;134;74;78;78	B4DIB9;Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4;Q05BR9	.;TECT1_HUMAN;.;.;.;.;.	K	74;134;134;134;134;78	ENSP00000448735:N134K;ENSP00000380775:N134K;ENSP00000380779:N134K	ENSP00000380771:N74K	N	+	3	2	TCTN1	109548610	0.741000	0.28217	0.975000	0.42487	0.888000	0.51559	0.033000	0.13754	0.157000	0.19338	-0.262000	0.10625	AAC	TCTN1	-	pfam_DUF1619	ENSG00000204852		0.303	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	251	0.00	0	C	NM_024549		111064227	111064227	+1	no_errors	ENST00000397659	ensembl	human	known	69_37n	missense	94	14.55	16	SNP	0.967	A
TCTN1	79600	genome.wustl.edu	37	12	111064227	111064227	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr12:111064227C>A	ENST00000551590.1	+	3	558	c.402C>A	c.(400-402)aaC>aaA	p.N134K	TCTN1_ENST00000550703.2_Missense_Mutation_p.N134K|TCTN1_ENST00000397659.4_Missense_Mutation_p.N134K|TCTN1_ENST00000397655.3_Missense_Mutation_p.N134K|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000551555.2_3'UTR|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000471804.2_Missense_Mutation_p.N134K			Q2MV58	TECT1_HUMAN	tectonic family member 1	134					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTACAGCAAACCCACCTCAAA	0.303																																						dbGAP											0													75.0	71.0	72.0					12																	111064227		1805	4074	5879	-	-	-	SO:0001583	missense	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.402C>A	12.37:g.111064227C>A	ENSP00000448735:p.Asn134Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	pfam_DUF1619	p.N134K	ENST00000551590.1	37	c.402	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795959	0.31777	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000548095;ENST00000397659;ENST00000397652	T;T;T	0.77620	-1.08;-1.11;-1.07	5.17	2.05	0.26809	Domain of unknown function DUF1619 (1);	0.967538	0.08452	U	0.943780	T	0.71937	0.3399	L	0.43152	1.355	0.80722	D	1	P;P;P;P;P;P;P	0.45283	0.855;0.728;0.646;0.496;0.525;0.551;0.855	B;B;B;B;B;B;P	0.47015	0.396;0.245;0.164;0.117;0.245;0.187;0.534	T	0.59542	-0.7435	10	0.14252	T	0.57	-9.4158	6.7892	0.23689	0.0:0.5017:0.0:0.4983	.	134;134;134;134;74;78;78	B4DIB9;Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4;Q05BR9	.;TECT1_HUMAN;.;.;.;.;.	K	74;134;134;134;134;78	ENSP00000448735:N134K;ENSP00000380775:N134K;ENSP00000380779:N134K	ENSP00000380771:N74K	N	+	3	2	TCTN1	109548610	0.741000	0.28217	0.975000	0.42487	0.888000	0.51559	0.033000	0.13754	0.157000	0.19338	-0.262000	0.10625	AAC	TCTN1	-	pfam_DUF1619	ENSG00000204852		0.303	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	230	0.00	0	C	NM_024549		111064227	111064227	+1	no_errors	ENST00000397659	ensembl	human	known	69_37n	missense	94	14.55	16	SNP	0.967	A
VPS13D	55187	genome.wustl.edu	37	1	12405462	12405462	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr1:12405462C>A	ENST00000358136.3	+	43	9047	c.8917C>A	c.(8917-8919)Caa>Aaa	p.Q2973K	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q2948K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCAACTGCAAGTGAGAGT	0.448																																						dbGAP											0													158.0	157.0	157.0					1																	12405462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8917C>A	1.37:g.12405462C>A	ENSP00000350854:p.Gln2973Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.C1794*	ENST00000358136.3	37	c.5382	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.38|19.38	3.817241|3.817241	0.70912|0.70912	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.37752	.|1.18;1.18	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.209202	.|0.44483	.|D	.|0.000449	.|T	.|0.23171	.|0.0560	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.32918	.|0.39;0.271	.|B;B	.|0.37780	.|0.258;0.132	.|T	.|0.07751	.|-1.0756	.|10	.|0.09338	.|T	.|0.73	.|.	17.5386|17.5386	0.87841|0.87841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2948;2972	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	X|K	1794|2948;2973	.|ENSP00000348666:Q2948K;ENSP00000350854:Q2973K	.|ENSP00000348666:Q2948K	C|Q	+|+	3|1	2|0	VPS13D|VPS13D	12328049|12328049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.349000|7.349000	0.79376|0.79376	2.585000|2.585000	0.87301|0.87301	0.655000|0.655000	0.94253|0.94253	TGC|CAA	VPS13D	-	NULL	ENSG00000048707		0.448	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	398	0.25	1	C	NM_015378		12405462	12405462	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000011700	ensembl	human	novel	69_37n	nonsense	192	19.33	46	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12405462	12405462	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr1:12405462C>A	ENST00000358136.3	+	43	9047	c.8917C>A	c.(8917-8919)Caa>Aaa	p.Q2973K	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q2948K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCAACTGCAAGTGAGAGT	0.448																																						dbGAP											0													158.0	157.0	157.0					1																	12405462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8917C>A	1.37:g.12405462C>A	ENSP00000350854:p.Gln2973Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.C1794*	ENST00000358136.3	37	c.5382	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.38|19.38	3.817241|3.817241	0.70912|0.70912	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.37752	.|1.18;1.18	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.209202	.|0.44483	.|D	.|0.000449	.|T	.|0.23171	.|0.0560	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.32918	.|0.39;0.271	.|B;B	.|0.37780	.|0.258;0.132	.|T	.|0.07751	.|-1.0756	.|10	.|0.09338	.|T	.|0.73	.|.	17.5386|17.5386	0.87841|0.87841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2948;2972	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	X|K	1794|2948;2973	.|ENSP00000348666:Q2948K;ENSP00000350854:Q2973K	.|ENSP00000348666:Q2948K	C|Q	+|+	3|1	2|0	VPS13D|VPS13D	12328049|12328049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.349000|7.349000	0.79376|0.79376	2.585000|2.585000	0.87301|0.87301	0.655000|0.655000	0.94253|0.94253	TGC|CAA	VPS13D	-	NULL	ENSG00000048707		0.448	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	224	0.00	0	C	NM_015378		12405462	12405462	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000011700	ensembl	human	novel	69_37n	nonsense	192	19.33	46	SNP	1.000	A
VPS4B	9525	genome.wustl.edu	37	18	61067316	61067316	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr18:61067316C>T	ENST00000238497.5	-	7	958	c.755G>A	c.(754-756)cGt>cAt	p.R252H	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	252					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTTAATTCTACGTGCGGCTTC	0.413																																						dbGAP											0													76.0	79.0	78.0					18																	61067316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.755G>A	18.37:g.61067316C>T	ENSP00000238497:p.Arg252His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.R252H	ENST00000238497.5	37	c.755	CCDS11983.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.562693	0.96527	.	.	ENSG00000119541	ENST00000238497	D	0.93488	-3.23	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.968;0.999	D	0.97075	0.9780	10	0.87932	D	0	-15.364	20.3465	0.98790	0.0:1.0:0.0:0.0	.	252;252;252	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	H	252	ENSP00000238497:R252H	ENSP00000238497:R252H	R	-	2	0	VPS4B	59218296	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	7.792000	0.85828	2.798000	0.96311	0.655000	0.94253	CGT	VPS4B	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	ENSG00000119541		0.413	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	172	0.58	1	C	NM_004869		61067316	61067316	-1	no_errors	ENST00000238497	ensembl	human	known	69_37n	missense	67	17.28	14	SNP	0.980	T
VPS4B	9525	genome.wustl.edu	37	18	61067316	61067316	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr18:61067316C>T	ENST00000238497.5	-	7	958	c.755G>A	c.(754-756)cGt>cAt	p.R252H	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	252					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTTAATTCTACGTGCGGCTTC	0.413																																						dbGAP											0													76.0	79.0	78.0					18																	61067316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.755G>A	18.37:g.61067316C>T	ENSP00000238497:p.Arg252His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.R252H	ENST00000238497.5	37	c.755	CCDS11983.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.562693	0.96527	.	.	ENSG00000119541	ENST00000238497	D	0.93488	-3.23	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.968;0.999	D	0.97075	0.9780	10	0.87932	D	0	-15.364	20.3465	0.98790	0.0:1.0:0.0:0.0	.	252;252;252	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	H	252	ENSP00000238497:R252H	ENSP00000238497:R252H	R	-	2	0	VPS4B	59218296	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	7.792000	0.85828	2.798000	0.96311	0.655000	0.94253	CGT	VPS4B	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	ENSG00000119541		0.413	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	139	0.00	0	C	NM_004869		61067316	61067316	-1	no_errors	ENST00000238497	ensembl	human	known	69_37n	missense	67	17.28	14	SNP	0.980	T
WDPCP	51057	genome.wustl.edu	37	2	63714608	63714608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr2:63714608G>A	ENST00000272321.7	-	3	708	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	WDPCP_ENST00000409562.3_Nonsense_Mutation_p.Q61*|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	61					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCATAATACTGGTAGATCCCA	0.303																																						dbGAP											0													43.0	43.0	43.0					2																	63714608		1792	4052	5844	-	-	-	SO:0001587	stop_gained	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.181C>T	2.37:g.63714608G>A	ENSP00000272321:p.Gln61*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RW4|Q7Z2Z3	Nonsense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.Q61*	ENST00000272321.7	37	c.181	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.118763	0.94385	.	.	ENSG00000143951	ENST00000272321;ENST00000409562;ENST00000431065	.	.	.	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.7908	14.9489	0.71054	0.0686:0.0:0.9314:0.0	.	.	.	.	X	61	.	ENSP00000272321:Q61X	Q	-	1	0	WDPCP	63568112	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.635000	0.74295	1.572000	0.49736	0.650000	0.86243	CAG	WDPCP	-	NULL	ENSG00000143951		0.303	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	100	0.00	0	G	NM_015910		63714608	63714608	-1	no_errors	ENST00000272321	ensembl	human	known	69_37n	nonsense	38	20.83	10	SNP	1.000	A
WDPCP	51057	genome.wustl.edu	37	2	63714608	63714608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr2:63714608G>A	ENST00000272321.7	-	3	708	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	WDPCP_ENST00000409562.3_Nonsense_Mutation_p.Q61*|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	61					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCATAATACTGGTAGATCCCA	0.303																																						dbGAP											0													43.0	43.0	43.0					2																	63714608		1792	4052	5844	-	-	-	SO:0001587	stop_gained	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.181C>T	2.37:g.63714608G>A	ENSP00000272321:p.Gln61*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RW4|Q7Z2Z3	Nonsense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.Q61*	ENST00000272321.7	37	c.181	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.118763	0.94385	.	.	ENSG00000143951	ENST00000272321;ENST00000409562;ENST00000431065	.	.	.	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.7908	14.9489	0.71054	0.0686:0.0:0.9314:0.0	.	.	.	.	X	61	.	ENSP00000272321:Q61X	Q	-	1	0	WDPCP	63568112	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.635000	0.74295	1.572000	0.49736	0.650000	0.86243	CAG	WDPCP	-	NULL	ENSG00000143951		0.303	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	91	0.00	0	G	NM_015910		63714608	63714608	-1	no_errors	ENST00000272321	ensembl	human	known	69_37n	nonsense	38	20.83	10	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72923665	72923665	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-11A-33D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	828c2886-4775-457c-a276-b7825c65d67a	g.chr16:72923665A>T	ENST00000268489.5	-	4	4085	c.3413T>A	c.(3412-3414)aTc>aAc	p.I1138N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.I224N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1138					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GATGGTGAAGATCTGCCCCAG	0.642																																						dbGAP											0													58.0	53.0	55.0					16																	72923665		2198	4300	6498	-	-	-	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3413T>A	16.37:g.72923665A>T	ENSP00000268489:p.Ile1138Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.I1138N	ENST00000268489.5	37	c.3413	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923570	0.73213	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.54866	0.55;0.55	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000104	T	0.66607	0.2806	L	0.48642	1.525	0.80722	D	1	D	0.65815	0.995	D	0.76575	0.988	T	0.68089	-0.5501	10	0.56958	D	0.05	.	15.7115	0.77631	1.0:0.0:0.0:0.0	.	1138	Q15911	ZFHX3_HUMAN	N	1138;224	ENSP00000268489:I1138N;ENSP00000438926:I224N	ENSP00000268489:I1138N	I	-	2	0	ZFHX3	71481166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.893000	0.92498	2.178000	0.69098	0.418000	0.28097	ATC	ZFHX3	-	NULL	ENSG00000140836		0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	93	0.00	0	A	NM_006885		72923665	72923665	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	T
ZMYND8	23613	genome.wustl.edu	37	20	45867613	45867613	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BQ-01A-21D-A10Y-09	TCGA-BH-A0BQ-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17	27facd2e-781d-4772-bb8c-7a1bc664c53e	g.chr20:45867613A>C	ENST00000311275.7	-	15	2747	c.2494T>G	c.(2494-2496)Tgg>Ggg	p.W832G	ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000396281.4_Missense_Mutation_p.W832G|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.W859G|ZMYND8_ENST00000540497.1_Missense_Mutation_p.W780G|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.W852G|ZMYND8_ENST00000355972.4_Missense_Mutation_p.W832G|ZMYND8_ENST00000262975.4_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	832					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGCATGTGCCACTTTTGGGAG	0.557																																						dbGAP											0													53.0	60.0	58.0					20																	45867613		2171	4252	6423	-	-	-	SO:0001583	missense	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2494T>G	20.37:g.45867613A>C	ENSP00000312237:p.Trp832Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.W859G	ENST00000311275.7	37	c.2575		20	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763936	0.69878	.	.	ENSG00000101040	ENST00000311275;ENST00000471951;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000540497	D;D;D;D;D	0.93906	-2.68;-2.82;-2.75;-2.72;-3.31	5.71	4.6	0.57074	.	0.089901	0.49305	U	0.000146	D	0.93900	0.8048	.	.	.	0.80722	D	1	D;P;P;D;P;P;P	0.54964	0.969;0.948;0.948;0.969;0.948;0.935;0.935	P;P;P;P;P;P;P	0.55303	0.757;0.576;0.598;0.773;0.576;0.494;0.494	D	0.91547	0.5254	9	0.25751	T	0.34	-1.3506	12.134	0.53959	0.8714:0.0:0.0:0.1286	.	859;827;826;852;832;780;832	F5H0X3;Q2HXV7;Q5JV90;Q9ULU4-7;Q9ULU4;Q2HXV1;B7Z2A8	.;.;.;.;PKCB1_HUMAN;.;.	G	832;853;832;859;832;780	ENSP00000312237:W832G;ENSP00000379577:W832G;ENSP00000439800:W859G;ENSP00000348246:W832G;ENSP00000443086:W780G	ENSP00000312237:W832G	W	-	1	0	ZMYND8	45301020	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.237000	0.78164	0.966000	0.38159	-0.468000	0.05107	TGG	ZMYND8	-	NULL	ENSG00000101040		0.557	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	19	0.00	0	A	NM_183047		45867613	45867613	-1	no_errors	ENST00000536340	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	C
